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 TRHDE 29953 broad.mit.edu 37 12 72667201 72667201 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:72667201C>A ENST00000261180.4 + 1 739 c.643C>A c.(643-645)Cag>Aag p.Q215K TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 215 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CCCGCAAACCCAGGTCTTAGT 0.572000 28 34 1.75199e-13 2.56325e-13 0.007291 1 0 OGG1 4968 broad.mit.edu 37 3 9798304 9798304 + Splice_Site SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:9798304G>A ENST00000302036.7 + 5 1240 c.898_splice c.e5+1 p.L299_splice OGG1_ENST00000349503.5_Intron|OGG1_ENST00000344629.7_Splice_Site_p.L299_splice|OGG1_ENST00000339511.5_Splice_Site_p.L299_splice|OGG1_ENST00000449570.2_Splice_Site_p.L299_splice|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Splice_Site_p.L299_splice|OGG1_ENST00000302008.8_Splice_Site_p.L299_splice NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 299 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) ACAAGGAACTGGGTGAGGAAA 0.582000 Base excision repair (BER), DNA glycosylases 27 8 0 0 0.006320 0 0 GTF2H1 2965 broad.mit.edu 37 11 18369136 18369136 + Splice_Site SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:18369136G>T ENST00000265963.4 + 8 999 c.837_splice c.e8-1 p.G280_splice GTF2H1_ENST00000524753.4_Splice_Site_p.G76_splice|GTF2H1_ENST00000530496.2_5'UTR|GTF2H1_ENST00000534641.1_Splice_Site_p.G164_splice|GTF2H1_ENST00000453096.2_Splice_Site_p.G280_splice NM_005316.3 NP_005307.1 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 62kDa 280 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 ttCTCACAGGGCTATGGCATT 0.348000 Nucleotide excision repair (NER) 10 23 7.48243e-07 1.05321e-06 0.006214 1 0 MIOX 55586 broad.mit.edu 37 22 50926457 50926457 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:50926457G>A ENST00000395732.3 + 4 342 c.320G>A c.(319-321)cGg>cAg p.R107Q MIOX_ENST00000216075.6_Missense_Mutation_p.R107Q|MIOX_ENST00000395733.3_Missense_Mutation_p.R107Q Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 107 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GAGGGCATCCGGAAGGCCCAC 0.652000 15 46 0 0 0.003163 0 0 OR5W2 390148 broad.mit.edu 37 11 55681486 55681486 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:55681486A>T ENST00000344514.1 - 1 572 c.573T>A c.(571-573)gaT>gaA p.D191E NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGACCTGTGTATCTGAGCGAG 0.383000 10 68 0 0 0.008291 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29906732 29906732 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:29906732C>T ENST00000308713.5 - 5 1228 c.701G>A c.(700-702)gGt>gAt p.G234D SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G190D|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G164D NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 234 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGATCCCCCACCAGCCAGCAC 0.622000 34 50 0 0 0.002836 0 0 KIAA1033 23325 broad.mit.edu 37 12 105556620 105556620 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:105556620A>G ENST00000332180.5 + 30 3241 c.3154A>G c.(3154-3156)Atg>Gtg p.M1052V KIAA1033_ENST00000547171.1_3'UTR NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 1052 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TGGCTTTGCCATGGGTAAGCT 0.308000 4 16 0 0 0.000248 0 0 OR2G6 391211 broad.mit.edu 37 1 248684984 248684984 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:248684984C>G ENST00000343414.4 + 1 69 c.37C>G c.(37-39)Ctt>Gtt p.L13V NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAAGGGATTTCTTCTCCTGGG 0.423000 44 75 0 0 0.003610 0 0 SLC7A10 56301 broad.mit.edu 37 19 33699842 33699842 + Silent SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:33699842T>G ENST00000253188.3 - 11 1673 c.1527A>C c.(1525-1527)ccA>ccC p.P509P NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 509 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) GCAGGGAGGGTGGGCAGGGGC 0.547000 10 70 0 0 0.001523 0 0 CYP2F1 1572 broad.mit.edu 37 19 41630665 41630665 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:41630665C>T ENST00000331105.2 + 8 1078 c.1006C>T c.(1006-1008)Cgg>Tgg p.R336W NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 336 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 GGGACGCGCGCGGCTGCCGGC 0.677000 10 6 0 0 0.008291 0 0 CATSPER1 117144 broad.mit.edu 37 11 65792826 65792826 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:65792826G>T ENST00000312106.5 - 1 1162 c.1025C>A c.(1024-1026)gCt>gAt p.A342D NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 342 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 ACGAGAAGCAGCAGGGCCGGG 0.587000 30 44 1.30897e-18 1.93415e-18 0.001786 1 0 TNRC6A 27327 broad.mit.edu 37 16 24800634 24800634 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:24800634A>T ENST00000395799.3 + 6 800 c.671A>T c.(670-672)aAc>aTc p.N224I TNRC6A_ENST00000315183.7_Missense_Mutation_p.N224I NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 224 Ser-rich. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTAGCACAAACTGTAAGAAT 0.448000 47 62 0 0 0.003610 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306715 205306715 + Nonsense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:205306715G>A ENST00000367156.3 - 9 1681 c.865C>T c.(865-867)Caa>Taa p.Q289* KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.Q289*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.Q155*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.Q289*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.Q176* NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 289 p.Q289E(1) breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) ACAGTGGGTTGATTCCCTGAA 0.587000 45 51 0 0 0.002852 0 0 ARAP1 116985 broad.mit.edu 37 11 72415374 72415374 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:72415374G>C ENST00000359373.5 - 14 2666 c.1815C>G c.(1813-1815)ttC>ttG p.F605L ARAP1_ENST00000393605.3_Missense_Mutation_p.F365L|ARAP1_ENST00000334211.8_Missense_Mutation_p.F360L|ARAP1_ENST00000429686.1_Intron|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000426523.1_Missense_Mutation_p.F360L|ARAP1_ENST00000393609.3_Missense_Mutation_p.F605L|ARAP1_ENST00000455638.2_Missense_Mutation_p.F605L Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 605 Arf-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCAGCTGTAAGAAGAGCTGTG 0.667000 11 56 0 0 0.001368 0 0 POLQ 10721 broad.mit.edu 37 3 121202255 121202255 + Missense_Mutation SNP T T A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:121202255T>A ENST00000264233.5 - 18 6076 c.5948A>T c.(5947-5949)gAg>gTg p.E1983V NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1983 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ATAACTTTGCTCCAAGGAGAT 0.303000 DNA polymerases (catalytic subunits) 27 30 0 0 0.008361 0 0 MRPS9 64965 broad.mit.edu 37 2 105696507 105696507 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:105696507A>T ENST00000258455.3 + 5 586 c.476A>T c.(475-477)tAt>tTt p.Y159F NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 159 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 CAGTCATACTATTCATTAATG 0.333000 38 60 0 0 0.008740 0 0 KIAA0100 9703 broad.mit.edu 37 17 26962035 26962035 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:26962035G>T ENST00000528896.2 - 16 2644 c.2570C>A c.(2569-2571)gCt>gAt p.A857D KIAA0100_ENST00000544884.1_Missense_Mutation_p.A714D|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.A714D NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 857 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AGAGGCCCAAGCACGAGTCCC 0.483000 85 106 3.61627e-53 5.56493e-53 0.003610 1 0 MYO18B 84700 broad.mit.edu 37 22 26159338 26159338 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:26159338C>T ENST00000335473.7 + 3 430 c.180C>T c.(178-180)gtC>gtT p.V60V MYO18B_ENST00000407587.2_Silent_p.V60V|MYO18B_ENST00000536101.1_Silent_p.V60V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 60 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGTTAGCTGTCGCCTCTCCAG 0.512000 13 13 0 0 0.001855 0 0 CDK13 8621 broad.mit.edu 37 7 40027286 40027286 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:40027286C>T ENST00000181839.4 + 2 1905 c.1300C>T c.(1300-1302)Cgt>Tgt p.R434C CDK13_ENST00000340829.5_Missense_Mutation_p.R434C NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 434 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 ATCCAGAAGTCGTCATTCTAG 0.463000 25 33 0 0 0.006320 0 0 ZAN 7455 broad.mit.edu 37 7 100348484 100348484 + RNA SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:100348484G>A ENST00000542585.1 + 0 1634 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GAACACCTCCGTCACCGTCCC 0.632000 13 64 0 0 0.002450 0 0 DNAH14 127602 broad.mit.edu 37 1 225142660 225142660 + Splice_Site SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:225142660G>C ENST00000430092.1 + 3 292 c.e3-1 DNAH14_ENST00000400952.3_Splice_Site|DNAH14_ENST00000366848.1_Splice_Site|DNAH14_ENST00000498360.1_Splice_Site|DNAH14_ENST00000366849.1_Splice_Site|DNAH14_ENST00000439375.2_Splice_Site|DNAH14_ENST00000366850.3_Splice_Site NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 TTGTCATTTAGACTTTTAAGA 0.264000 27 61 0 0 0.006320 0 0 ZNF446 55663 broad.mit.edu 37 19 58988810 58988810 + Silent SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:58988810G>C ENST00000596341.1 + 2 2445 c.225G>C c.(223-225)ctG>ctC p.L75L ZNF446_ENST00000335841.4_Silent_p.L75L|ZNF446_ENST00000594369.1_Silent_p.L75L Q9NWS9 ZN446_HUMAN zinc finger protein 446 75 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGCAGTTCCTGGGCACACTGC 0.662000 28 45 0 0 0.006320 0 0 TECTA 7007 broad.mit.edu 37 11 121000847 121000847 + Silent SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:121000847T>G ENST00000392793.1 + 10 3139 c.2868T>G c.(2866-2868)tcT>tcG p.S956S TECTA_ENST00000264037.2_Silent_p.S956S O75443 TECTA_HUMAN tectorin alpha 956 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) TCTGTGACTCTGTGGCCCGGT 0.602000 21 43 0 0 0.001882 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412684 139412684 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:139412684C>T ENST00000277541.6 - 7 1235 c.1160G>A c.(1159-1161)tGc>tAc p.C387Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 387 EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTTGGTGTCGCAGTTGGAGCC 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 1 0 0 0.006214 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791426 50791426 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:50791426C>A ENST00000263046.4 + 3 581 c.415C>A c.(415-417)Ccc>Acc p.P139T TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P130T Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 130 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) GGCCGCCTTGCCCCAGCTCTC 0.721000 7 5 0.00307968 0.00417655 0.003080 1 0 IMPDH2 3615 broad.mit.edu 37 3 49064207 49064207 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:49064207C>T ENST00000326739.4 - 7 771 c.732G>A c.(730-732)ctG>ctA p.L244L NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 244 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCCCACACAGCAGCTGTTTCT 0.517000 113 40 0 0 0.003610 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 44 0 0 0.000248 0 0 TP53 7157 broad.mit.edu 37 17 7578268 7578268 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:7578268A>G ENST00000420246.2 - 6 713 c.581T>C c.(580-582)cTt>cCt p.L194P TP53_ENST00000269305.4_Missense_Mutation_p.L194P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194P|TP53_ENST00000413465.2_Missense_Mutation_p.L194P|TP53_ENST00000455263.2_Missense_Mutation_p.L194P|TP53_ENST00000445888.2_Missense_Mutation_p.L194P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 194 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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) CACTCGGATAAGATGCTGAGG 0.552000 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) 26 12 0 0 0.007291 0 0 KIAA1432 57589 broad.mit.edu 37 9 5774097 5774097 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:5774097G>A ENST00000414202.2 + 26 4314 c.4123G>A c.(4123-4125)Gag>Aag p.E1375K KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1296K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1259K NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1375 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCCCCGGGCAGAGGAGAGCAG 0.557000 19 19 0 0 0.008871 0 0 LRP4 4038 broad.mit.edu 37 11 46900527 46900527 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:46900527G>C ENST00000378623.1 - 22 3309 c.3067C>G c.(3067-3069)Cca>Gca p.P1023A NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1023 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AATCCGCTTGGATTTGGGGAC 0.537000 117 125 0 0 0.003610 0 0 NHLRC3 387921 broad.mit.edu 37 13 39621219 39621219 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr13:39621219G>A ENST00000379600.3 + 6 1043 c.721G>A c.(721-723)Gat>Aat p.D241N NHLRC3_ENST00000470258.1_Missense_Mutation_p.D44N|NHLRC3_ENST00000379599.2_Missense_Mutation_p.D174N NM_001012754.2 NP_001012772.1 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 241 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) CCAAGTATTTGATAAAGACAC 0.363000 53 25 0 0 0.003610 0 0 MYO18B 84700 broad.mit.edu 37 22 26423316 26423316 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:26423316G>C ENST00000335473.7 + 43 7626 c.7376G>C c.(7375-7377)gGa>gCa p.G2459A MYO18B_ENST00000407587.2_Missense_Mutation_p.G2460A|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2459A NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2459 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TCCTTGGCTGGATCAGCCAAA 0.532000 56 83 0 0 0.003610 0 0 ABCG8 64241 broad.mit.edu 37 2 44079515 44079515 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:44079515T>C ENST00000272286.2 + 5 674 c.584T>C c.(583-585)cTg>cCg p.L195P NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 195 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATCGCGGAGCTGCGGCTTAGG 0.637000 24 31 0 0 0.002299 0 0 LYRM2 57226 broad.mit.edu 37 6 90347471 90347471 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:90347471G>A ENST00000523377.1 - 2 212 c.176C>T c.(175-177)gCc>gTc p.A59V LYRM2_ENST00000520318.1_Missense_Mutation_p.A59V|LYRM2_ENST00000517396.1_5'UTR|LYRM2_ENST00000520441.1_Missense_Mutation_p.A59V NM_020466.4 NP_065199.1 Q9NU23 LYRM2_HUMAN LYR motif containing 2 59 kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) CTCTTCGGTGGCACTTTTGTT 0.363000 5 221 0 0 0.000602 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580775 140580775 + Silent SNP A A C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:140580775A>C ENST00000354757.3 + 1 1428 c.1428A>C c.(1426-1428)acA>acC p.T476T PCDHB11_ENST00000536699.1_Silent_p.T111T NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 476 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAGCGCTACAGACAGAGACT 0.617000 41 207 0 0 0.008740 0 0 MED16 10025 broad.mit.edu 37 19 885883 885883 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:885883C>T ENST00000312090.6 - 5 916 c.766G>A c.(766-768)Gac>Aac p.D256N MED16_ENST00000395808.3_Missense_Mutation_p.D256N|MED16_ENST00000325464.1_Missense_Mutation_p.D256N|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.D256N|MED16_ENST00000269814.4_Missense_Mutation_p.D256N Q9Y2X0 MED16_HUMAN mediator complex subunit 16 256 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) ATCTCCGTGTCGATACGGCAC 0.647000 4 66 0 0 0.000248 0 0 DENND1A 57706 broad.mit.edu 37 9 126414381 126414381 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:126414381C>G ENST00000373624.2 - 9 730 c.529G>C c.(529-531)Gtg>Ctg p.V177L DENND1A_ENST00000373620.3_Missense_Mutation_p.V177L|DENND1A_ENST00000373618.1_Missense_Mutation_p.V145L|DENND1A_ENST00000394219.3_Missense_Mutation_p.V145L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.V147L NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 177 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 TCCACAGCCACAAAATATTCT 0.398000 16 45 0 0 0.004990 0 0 DUOX1 53905 broad.mit.edu 37 15 45434285 45434285 + Silent SNP C C T rs140249290 byFrequency TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:45434285C>T ENST00000321429.4 + 16 2204 c.1797C>T c.(1795-1797)atC>atT p.I599I DUOX1_ENST00000389037.3_Silent_p.I599I|DUOX1_ENST00000561166.1_Silent_p.I245I NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 599 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GGGTCACCATCGGGACCCTCT 0.557000 7 95 0 0 0.003080 0 0 ARAP3 64411 broad.mit.edu 37 5 141059694 141059694 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:141059694G>A ENST00000239440.4 - 2 425 c.360C>T c.(358-360)ctC>ctT p.L120L ARAP3_ENST00000508305.1_Silent_p.L42L NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 120 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CTGGTCCCCCGAGGGCTGGGC 0.652000 105 41 0 0 0.003610 0 0 XRN1 54464 broad.mit.edu 37 3 142048418 142048418 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:142048418T>C ENST00000264951.4 - 37 4376 c.4259A>G c.(4258-4260)cAt>cGt p.H1420R XRN1_ENST00000392981.2_Missense_Mutation_p.H1421R NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1420 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CTGAACATTATGGTACTCATT 0.383000 26 26 0 0 0.004656 0 0 SLC2A11 66035 broad.mit.edu 37 22 24224830 24224830 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:24224830C>T ENST00000345044.6 + 7 1138 c.870C>T c.(868-870)gaC>gaT p.D290D SLC2A11_ENST00000398356.2_Silent_p.D297D|SLC2A11_ENST00000316185.8_Silent_p.D293D|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Intron Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 290 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 GCGGGAATGACTCGGTGAGAC 0.687000 4 15 0 0 0.000248 0 0 CROCC 9696 broad.mit.edu 37 1 17275397 17275397 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:17275397C>T ENST00000375541.5 + 19 2881 c.2812C>T c.(2812-2814)Ctg>Ttg p.L938L CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 938 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) GCAGGCCCTGCTGCTGGCCAA 0.677000 5 67 0 0 0.003080 0 0 TLR3 7098 broad.mit.edu 37 4 187006008 187006008 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:187006008C>G ENST00000296795.2 + 5 2800 c.2696C>G c.(2695-2697)tCc>tGc p.S899C TLR3_ENST00000504367.1_Missense_Mutation_p.S622C NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 899 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) GCACTTGGATCCAAAAACTCT 0.328000 26 26 0 0 0.004656 0 0 GORAB 92344 broad.mit.edu 37 1 170508524 170508524 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:170508524C>A ENST00000367763.3 + 2 330 c.310C>A c.(310-312)Cct>Act p.P104T GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Missense_Mutation_p.P104T NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 104 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TCAAAAACCACCTTTTTCTTC 0.473000 16 43 0.000308642 0.000422427 0.003163 1 0 CMYA5 202333 broad.mit.edu 37 5 79033128 79033128 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:79033128C>G ENST00000446378.2 + 2 8571 c.8540C>G c.(8539-8541)aCa>aGa p.T2847R NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2847 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) GAAAGGCATACAGTTCATACT 0.423000 41 25 0 0 0.002522 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98165918 98165918 + RNA SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:98165918C>G ENST00000443455.1 - 0 1551 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B TTTTCTCTGGCTATATTCAAA 0.308000 3 36 0 0 0.000602 0 0 ACIN1 22985 broad.mit.edu 37 14 23547373 23547373 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:23547373T>C ENST00000262710.1 - 8 2611 c.2284A>G c.(2284-2286)Att>Gtt p.I762V ACIN1_ENST00000555053.1_Missense_Mutation_p.I762V|ACIN1_ENST00000457657.1_Missense_Mutation_p.I722V|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000605057.1_Missense_Mutation_p.I704V NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 762 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GTGTGATGAATTCTTTCTGAT 0.493000 68 106 0 0 0.003610 0 0 RGMB 285704 broad.mit.edu 37 5 98129212 98129212 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:98129212C>G ENST00000308234.7 + 5 1594 c.1192C>G c.(1192-1194)Caa>Gaa p.Q398E RGMB_ENST00000513185.1_Missense_Mutation_p.Q357E NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 357 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) TGCCAACACTCAATGCCATGA 0.587000 9 11 0 0 0.006214 0 0 COL4A4 1286 broad.mit.edu 37 2 227924929 227924929 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:227924929G>T ENST00000396625.3 - 27 2294 c.2087C>A c.(2086-2088)gCc>gAc p.A696D COL4A4_ENST00000329662.7_Missense_Mutation_p.A696D NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 696 Triple-helical region. 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) CAGCCCAGGGGCACCTTGGGG 0.428000 36 88 2.09667e-21 3.16096e-21 0.003755 1 0 TAF1D 79101 broad.mit.edu 37 11 93472441 93472441 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:93472441G>C ENST00000448108.2 - 2 680 c.30C>G c.(28-30)gaC>gaG p.D10E NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 ATGTCACATGGTCAAGAGAAT 0.308000 14 69 0 0 0.003163 0 0 RELA 5970 broad.mit.edu 37 11 65425831 65425831 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:65425831G>A ENST00000525693.1 - 8 866 c.804C>T c.(802-804)gtC>gtT p.V268V RELA_ENST00000406246.3_Silent_p.V268V|RELA_ENST00000308639.9_Silent_p.V265V Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 268 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GCTGCATGGAGACACGCACAG 0.627000 25 43 0 0 0.003330 0 0 STOX2 56977 broad.mit.edu 37 4 184931650 184931650 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:184931650G>T ENST00000308497.4 + 3 3094 c.1659G>T c.(1657-1659)gaG>gaT p.E553D STOX2_ENST00000438269.1_Missense_Mutation_p.E553D NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 553 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) GCTATAAAGAGGTGTGTATTC 0.522000 18 15 3.52763e-06 4.89583e-06 0.004990 1 0 PRSS58 136541 broad.mit.edu 37 7 141955074 141955074 + Silent SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:141955074C>A ENST00000552471.1 - 3 556 c.237G>T c.(235-237)ctG>ctT p.L79L PRSS58_ENST00000547058.2_Silent_p.L79L Q8IYP2 PRS58_HUMAN protease, serine, 58 79 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 CAATCACTTGCAGATGCTTTT 0.413000 36 16 3.76114e-14 5.52999e-14 0.004289 1 0 BPTF 2186 broad.mit.edu 37 17 65905793 65905793 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:65905793G>A ENST00000321892.4 + 12 3347 c.3286G>A c.(3286-3288)Gat>Aat p.D1096N BPTF_ENST00000306378.6_Missense_Mutation_p.D970N|BPTF_ENST00000335221.5_Missense_Mutation_p.D1096N|BPTF_ENST00000424123.3_Missense_Mutation_p.D957N Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1096 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTCTGAAAAAGATGAGGTAAA 0.343000 11 43 0 0 0.001368 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956491 16956491 + RNA SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:16956491C>G ENST00000412962.1 - 0 294 gatggggtttcgccatgttgg 0.577000 3 16 0 0 0.004672 0 0 GTF3C4 9329 broad.mit.edu 37 9 135546192 135546192 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:135546192G>A ENST00000372146.4 + 1 771 c.207G>A c.(205-207)ccG>ccA p.P69P GTF3C4_ENST00000483873.2_Silent_p.P69P NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 69 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GCCTGGAACCGCTGGCTTGGT 0.706000 4 4 0 0 0.000602 0 0 LILRB4 11006 broad.mit.edu 37 19 55179342 55179342 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:55179342C>T ENST00000391736.1 + 14 1534 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S 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 4 407 integral to membrane|plasma membrane antigen binding|receptor activity p.P407S(1) 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) ATCTGAAGCCCCCCAGGATGT 0.647000 4 98 0 0 0.003080 0 0 TAOK3 51347 broad.mit.edu 37 12 118650751 118650751 + Nonsense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:118650751G>A ENST00000392533.3 - 11 1277 c.787C>T c.(787-789)Cag>Tag p.Q263* TAOK3_ENST00000419821.2_Nonsense_Mutation_p.Q263* NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 263 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCCTTTCCTGAGGTATTTTC 0.348000 17 12 0 0 0.007413 0 0 FUT5 2527 broad.mit.edu 37 19 5867283 5867283 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:5867283A>G ENST00000252675.5 - 5 1016 c.454T>C c.(454-456)Tcc>Ccc p.S152P FUT5_ENST00000588525.1_Missense_Mutation_p.S152P Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 152 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 TTGCTGGGGGACTCCATGCTG 0.627000 7 30 0 0 0.003080 0 0 GPRC5B 51704 broad.mit.edu 37 16 19871853 19871853 + Missense_Mutation SNP G G A rs147744945 TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:19871853G>A ENST00000300571.2 - 4 1372 c.1181C>T c.(1180-1182)cCg>cTg p.P394L GPRC5B_ENST00000535671.1_Intron|GPRC5B_ENST00000537135.1_Missense_Mutation_p.P420L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.P394L|GPRC5B_ENST00000569847.1_Missense_Mutation_p.P394L NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 394 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GTGACTTGGCGGAGCAGTTGG 0.448000 14 23 0 0 0.002450 0 0 PCF11 51585 broad.mit.edu 37 11 82878338 82878338 + Silent SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:82878338A>G ENST00000298281.4 + 6 2441 c.1989A>G c.(1987-1989)gaA>gaG p.E663E NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 663 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GCAAAAGAGAATTACTTCAAA 0.313000 12 35 0 0 0.000978 0 0 WWP1 11059 broad.mit.edu 37 8 87414410 87414410 + Silent SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:87414410A>G ENST00000517970.1 + 8 1009 c.702A>G c.(700-702)gcA>gcG p.A234A WWP1_ENST00000341922.2_Intron|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Silent_p.A234A NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 234 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 AACCACTCGCATCTGAGCCTG 0.448000 15 27 0 0 0.004990 0 0 TANC1 85461 broad.mit.edu 37 2 160053172 160053172 + Silent SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:160053172G>T ENST00000263635.6 + 18 3270 c.3033G>T c.(3031-3033)cgG>cgT p.R1011R TANC1_ENST00000454300.1_Silent_p.R905R NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1011 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 GTGCCCTACGGGGCCACGGTG 0.622000 25 53 2.24059e-21 3.36089e-21 0.006320 1 0 IGHV2-5 28457 broad.mit.edu 37 14 106494249 106494249 + RNA SNP G G T rs148245067 by1000genomes TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:106494249G>T ENST00000390597.2 - 0 262 TCAGAGATGGGCTGTAGCGCT 0.532000 35 74 9.65963e-10 1.39864e-09 0.003271 1 0 TLR3 7098 broad.mit.edu 37 4 187004613 187004613 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:187004613C>T ENST00000296795.2 + 4 1877 c.1773C>T c.(1771-1773)atC>atT p.I591I TLR3_ENST00000504367.1_Silent_p.I314I NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 591 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TAAAGATCATCGATTTAGGAT 0.388000 30 45 0 0 0.007291 0 0 TTC27 55622 broad.mit.edu 37 2 32927945 32927945 + Silent SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:32927945A>G ENST00000317907.4 + 10 1422 c.1191A>G c.(1189-1191)aaA>aaG p.K397K NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 397 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 AACTTGAGAAAGGAAGTACTC 0.438000 50 102 0 0 0.003610 0 0 DGCR5 26220 broad.mit.edu 37 22 18979561 18979561 + RNA SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:18979561G>C ENST00000438934.1 + 0 2912 DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA CAGAGAACCCGCAGGGTTGTT 0.587000 3 19 0 0 0.004672 0 0 INTS7 25896 broad.mit.edu 37 1 212120048 212120048 + Splice_Site SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:212120048C>T ENST00000366994.3 - 18 2421 c.e18-1 INTS7_ENST00000440600.2_Splice_Site|INTS7_ENST00000469606.1_Splice_Site|INTS7_ENST00000366992.3_Intron|INTS7_ENST00000366993.3_Splice_Site NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) ATGCTGTGTGCTGGGGGAAAA 0.348000 3 58 0 0 0.000248 0 0 MAMSTR 284358 broad.mit.edu 37 19 49216571 49216571 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:49216571C>G ENST00000318083.6 - 10 1264 c.1201G>C c.(1201-1203)Gac>Cac p.D401H MAMSTR_ENST00000419611.1_Missense_Mutation_p.D298H|MAMSTR_ENST00000377367.3_Missense_Mutation_p.D233H|MAMSTR_ENST00000594582.1_Missense_Mutation_p.D233H|MAMSTR_ENST00000356751.4_Missense_Mutation_p.D298H Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 401 Ser-rich.|Transcription activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 CTGCTGGAGTCAGATAAGTCA 0.617000 OREG0025608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 17 0 0 0.001855 0 0 MDN1 23195 broad.mit.edu 37 6 90409446 90409446 + Splice_Site SNP T T A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:90409446T>A ENST00000369393.3 - 58 8986 c.8870_splice c.e58-1 p.R2957_splice MDN1_ENST00000428876.1_Splice_Site_p.R2957_splice Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2957 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTTGCTGCATCTGTTCCAAA 0.408000 31 38 0 0 0.002836 0 0 CEBPZ 10153 broad.mit.edu 37 2 37455847 37455847 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:37455847T>C ENST00000234170.5 - 2 634 c.489A>G c.(487-489)aaA>aaG p.K163K NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 163 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) AGATGTTCTGTTTATCTTTCT 0.373000 50 70 0 0 0.003610 0 0 ZDHHC11 79844 broad.mit.edu 37 5 837492 837492 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:837492T>C ENST00000283441.8 - 6 1271 c.888A>G c.(886-888)aaA>aaG p.K296K ZDHHC11_ENST00000424784.2_Silent_p.K296K|ZDHHC11_ENST00000503758.2_5'UTR NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 296 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GGAGAACTCCTTTGTCCATTT 0.478000 9 301 0 0 0.008291 0 0 OR51G1 79324 broad.mit.edu 37 11 4945555 4945555 + Silent SNP A A C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:4945555A>C ENST00000321961.2 - 1 82 c.15T>G c.(13-15)ctT>ctG p.L5L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTGCTATTAAGAAGAATTG 0.438000 31 12 0 0 0.001786 0 0 ZNF91 7644 broad.mit.edu 37 19 23544273 23544273 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:23544273G>A ENST00000300619.7 - 4 1713 c.1508C>T c.(1507-1509)tCa>tTa p.S503L ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S471L NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 503 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGTAAGGGTTGAGGATTGCCT 0.368000 11 31 0 0 0.008291 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr21:11058353T>C 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) GAAATCTCTTTATAAAACCTT 0.343000 5 106 0 0 0.001168 0 0 NCOR2 9612 broad.mit.edu 37 12 124821412 124821412 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:124821412G>C ENST00000356219.3 - 39 6178 c.6023C>G c.(6022-6024)cCt>cGt p.P2008R NCOR2_ENST00000404121.2_Missense_Mutation_p.P1562R|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1992R|NCOR2_ENST00000405201.1_Missense_Mutation_p.P2001R|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1991R|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1991R NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2012 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) GGCGTGGTGAGGTGCGAGGTT 0.687000 18 16 0 0 0.004990 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 75 0 0 0.000602 0 0 CDC25B 994 broad.mit.edu 37 20 3782640 3782640 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:3782640C>G ENST00000245960.5 + 10 1688 c.991C>G c.(991-993)Ccc>Gcc p.P331A CDC25B_ENST00000344256.6_Missense_Mutation_p.P267A|CDC25B_ENST00000340833.4_Missense_Mutation_p.P290A|CDC25B_ENST00000379598.5_Missense_Mutation_p.P240A|CDC25B_ENST00000439880.2_Missense_Mutation_p.P317A|CDC25B_ENST00000467519.1_3'UTR NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 331 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 CGTGATCCGGCCCATCCTCAA 0.652000 3 12 0 0 0.004672 0 0 SGMS1-AS1 104355295 broad.mit.edu 37 10 52390636 52390636 + RNA SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr10:52390636C>G ENST00000443374.1 + 0 1329 CAATCAAACTCTTCATCGTCA 0.443000 11 33 0 0 0.008291 0 0 TDRD6 221400 broad.mit.edu 37 6 46658086 46658086 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:46658086A>G ENST00000544460.1 + 1 2475 c.2221A>G c.(2221-2223)Aaa>Gaa p.K741E TDRD6_ENST00000316081.6_Missense_Mutation_p.K741E NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 741 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGTGCAGGAAAAAGTGAAAAG 0.393000 10 12 0 0 0.008291 0 0 AC112229.4 0 broad.mit.edu 37 2 111144370 111144370 + RNA SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:111144370T>C ENST00000606848.1 - 0 1370 GGCAGCACCATAGTGGCGGCC 0.622000 2 0 0 0 0.004672 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719966 140719966 + Silent SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:140719966C>A ENST00000394576.2 + 1 1428 c.1428C>A c.(1426-1428)gcC>gcA p.A476A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGACGGCCCATGACCCCG 0.542000 21 86 4.43304e-23 6.71741e-23 0.006320 1 0 ZFP42 132625 broad.mit.edu 37 4 188924382 188924382 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:188924382C>G ENST00000326866.4 + 4 829 c.421C>G c.(421-423)Ctt>Gtt p.L141V ZFP42_ENST00000509524.1_Missense_Mutation_p.L141V NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 141 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AGAGAATTCGCTTGAGTATTC 0.418000 50 88 0 0 0.003610 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 78 0 0 0.004672 0 0 PRDM2 7799 broad.mit.edu 37 1 14108768 14108768 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:14108768C>T ENST00000235372.7 + 8 5334 c.4478C>T c.(4477-4479)tCa>tTa p.S1493L PRDM2_ENST00000343137.4_Missense_Mutation_p.S1292L|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1493L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1292L NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1493 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTTTCTCATTCATCTAAGAAA 0.448000 56 161 0 0 0.003610 0 0 MAML3 55534 broad.mit.edu 37 4 140811147 140811147 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:140811147G>A ENST00000509479.2 - 2 2299 c.1443C>T c.(1441-1443)ctC>ctT p.L481L MAML3_ENST00000398940.1_Silent_p.L20L|MAML3_ENST00000327122.5_Silent_p.L325L NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 481 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) tctgctgcATGAGTTTGGCCC 0.577000 13 24 0 0 0.001855 0 0 DIS3L2 129563 broad.mit.edu 37 2 233075076 233075076 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:233075076G>T ENST00000325385.7 + 10 1441 c.1165G>T c.(1165-1167)Gac>Tac p.D389Y DIS3L2_ENST00000273009.6_Missense_Mutation_p.D389Y|DIS3L2_ENST00000409307.1_Missense_Mutation_p.D389Y NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 389 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AACCGCCCGAGACCTCGATGA 0.478000 16 75 6.49762e-13 9.45977e-13 0.006122 1 0 CTU2 348180 broad.mit.edu 37 16 88780121 88780121 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:88780121G>A ENST00000567949.1 + 9 1162 c.1153G>A c.(1153-1155)Gag>Aag p.E385K CTU2_ENST00000378384.3_Missense_Mutation_p.E227K|CTU2_ENST00000312060.5_Missense_Mutation_p.E314K|CTU2_ENST00000453996.2_Missense_Mutation_p.E314K Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) 314 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 CACCCTGAAGGAGGTCGCTTT 0.637000 44 106 0 0 0.002852 0 0 AEN 64782 broad.mit.edu 37 15 89173493 89173493 + Nonsense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:89173493G>T ENST00000332810.3 + 4 1097 c.946G>T c.(946-948)Gga>Tga p.G316* AEN_ENST00000379231.3_Intron NM_022767.3 NP_073604.3 Q8WTP8 AEN_HUMAN apoptosis enhancing nuclease 316 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding NS(1)|kidney(1)|large_intestine(1)|lung(4) 7 CAGCAGAGGAGGAGCCAGGGA 0.647000 8 9 0.00448238 0.00602383 0.004482 1 0 ARID1B 57492 broad.mit.edu 37 6 157522507 157522507 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:157522507C>T ENST00000346085.5 + 18 4780 c.4779C>T c.(4777-4779)acC>acT p.T1593T ARID1B_ENST00000367148.1_Silent_p.T1633T|ARID1B_ENST00000350026.5_Silent_p.T1580T|ARID1B_ENST00000275248.4_Silent_p.T1575T NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1580 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCCAGGTCACCGGGCCACCAC 0.547000 45 130 0 0 0.002852 0 0 LCOR 84458 broad.mit.edu 37 10 98714920 98714920 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr10:98714920G>C ENST00000540664.1 + 8 1086 c.543G>C c.(541-543)caG>caC p.Q181H LCOR_ENST00000371103.3_Missense_Mutation_p.Q181H|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.Q181H|LCOR_ENST00000371097.4_Missense_Mutation_p.Q181H NM_001170765.1|NM_001170766.1 NP_001164236.1|NP_001164237.1 ligand dependent nuclear receptor corepressor endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1) 13 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) CTGGATTACAGAATCATGGAC 0.478000 24 34 0 0 0.002780 0 0 EPHA6 285220 broad.mit.edu 37 3 97202882 97202882 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:97202882A>T ENST00000389672.5 + 10 2217 c.2179A>T c.(2179-2181)Att>Ttt p.I727F EPHA6_ENST00000514100.1_Missense_Mutation_p.I119F|EPHA6_ENST00000442602.2_Missense_Mutation_p.I93F|EPHA6_ENST00000502694.1_Missense_Mutation_p.I119F NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 632 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 AAGAATTCGTATTGAGAGAGT 0.358000 21 20 0 0 0.001882 0 0 SH2D7 646892 broad.mit.edu 37 15 78390796 78390796 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:78390796C>T ENST00000328828.5 + 4 503 c.503C>T c.(502-504)cCa>cTa p.P168L SH2D7_ENST00000409568.2_Missense_Mutation_p.P32L NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 168 endometrium(2)|kidney(2)|lung(3) 7 CCAGAAAACCCACCTGCCACG 0.607000 15 24 0 0 0.003163 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 6 176 0 0 0.003080 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574507 140574507 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:140574507C>T ENST00000239446.4 + 1 2566 c.2382C>T c.(2380-2382)agC>agT p.S794S NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 794 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCGAAATAGCTTTGGATTTA 0.368000 17 36 0 0 0.004990 0 0 PGR 5241 broad.mit.edu 37 11 100933383 100933383 + Silent SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:100933383T>G ENST00000325455.5 - 4 3460 c.2007A>C c.(2005-2007)ctA>ctC p.L669L PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Silent_p.L75L NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 669 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) ATCTCTGGCTTAGGGCTTGGC 0.443000 7 603 0 0 0.004482 0 0 ZNF91 7644 broad.mit.edu 37 19 23544197 23544197 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:23544197T>C ENST00000300619.7 - 4 1789 c.1584A>G c.(1582-1584)agA>agG p.R528R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.R496R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 528 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTAAGGATTGTCTAAAAGCTT 0.343000 9 20 0 0 0.004482 0 0 FRMPD4 9758 broad.mit.edu 37 X 12701691 12701691 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:12701691C>T ENST00000380682.1 + 6 1064 c.558C>T c.(556-558)atC>atT p.I186I NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 186 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGGTCATCATCAACGGCCAAG 0.443000 19 8 0 0 0.007413 0 0 JPH1 56704 broad.mit.edu 37 8 75233253 75233253 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:75233253G>C ENST00000342232.4 - 1 310 c.270C>G c.(268-270)ttC>ttG p.F90L NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 90 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) AGCGCCCCTTGAAACCATGTG 0.667000 9 52 0 0 0.001368 0 0 DHX38 9785 broad.mit.edu 37 16 72143370 72143370 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:72143370C>T ENST00000268482.3 + 25 3947 c.3438C>T c.(3436-3438)ccC>ccT p.P1146P DHX38_ENST00000536867.1_Silent_p.P458P NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1146 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) AGCTGGGCCCCATGTTCTATA 0.637000 8 23 0 0 0.004482 0 0 POLK 51426 broad.mit.edu 37 5 74865317 74865317 + Splice_Site SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:74865317G>T ENST00000241436.4 + 4 580 c.408_splice c.e4+1 p.L136_splice POLK_ENST00000380481.3_Splice_Site_p.L46_splice|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Splice_Site_p.L136_splice|POLK_ENST00000352007.5_Splice_Site_p.L136_splice|POLK_ENST00000508526.1_Splice_Site_p.L136_splice|POLK_ENST00000515295.1_Splice_Site_p.L136_splice NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 136 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TGAGTATGCTGGTAAGTAAAG 0.368000 DNA polymerases (catalytic subunits) 16 11 1.33834e-09 1.91099e-09 0.007413 1 0 CCDC57 284001 broad.mit.edu 37 17 80156247 80156247 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:80156247T>C ENST00000389641.4 - 3 495 c.459A>G c.(457-459)aaA>aaG p.K153K CCDC57_ENST00000392347.1_Silent_p.K153K|CCDC57_ENST00000392343.3_Silent_p.K153K Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 153 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CCAGTGTCCATTTTAGATTTT 0.478000 3 34 0 0 0.000248 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452572 130452572 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:130452572G>A ENST00000356763.3 - 4 1827 c.1270C>T c.(1270-1272)Cat>Tat p.H424Y NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 424 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 TTGCTGAAATGCAAAAGATAT 0.413000 43 45 0 0 0.008740 0 0 HPX 3263 broad.mit.edu 37 11 6453230 6453230 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:6453230G>C ENST00000265983.3 - 8 953 c.853C>G c.(853-855)Ctg>Gtg p.L285V NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 285 Hemopexin-like 4. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) CTGGTGTCCAGACGCCAGTAG 0.567000 66 31 0 0 0.003610 0 0 MROH9 80133 broad.mit.edu 37 1 170965783 170965783 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:170965783T>C ENST00000367759.4 + 14 1627 c.1473T>C c.(1471-1473)gcT>gcC p.A491A MROH9_ENST00000367758.3_Silent_p.A491A NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 GCTTTATTGCTAAGTAAGAAC 0.428000 4 136 0 0 0.000248 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135863925 135863925 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:135863925G>C ENST00000264977.3 + 14 3987 c.3370G>C c.(3370-3372)Gaa>Caa p.E1124Q PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E503Q|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E388Q NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 1124 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTCTCCCTCTGAATTTGGAAA 0.358000 3 44 0 0 0.000248 0 0 IRS4 8471 broad.mit.edu 37 X 107977584 107977584 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:107977584G>A ENST00000372129.2 - 1 2067 c.1991C>T c.(1990-1992)aCg>aTg p.T664M NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 664 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GCATTCTTTCGTGGCTCCTCT 0.512000 219 77 0 0 0.003610 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843615 22843615 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:22843615G>T ENST00000360412.2 - 4 884 c.109C>A c.(109-111)Cat>Aat p.H37N ZNF280B_ENST00000406426.1_Missense_Mutation_p.H37N NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TCATTTACATGTTCCACACCA 0.418000 31 68 3.80469e-20 5.67836e-20 0.001786 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764911 77764911 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:77764911T>C ENST00000521891.2 + 10 6202 c.5754T>C c.(5752-5754)ttT>ttC p.F1918F ZFHX4_ENST00000455469.2_Silent_p.F1873F|ZFHX4_ENST00000518282.1_Silent_p.F1892F|ZFHX4_ENST00000050961.6_Silent_p.F1873F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1873 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) ACTTTGGTTTTGAACTGGTCA 0.448000 HNSCC(33;0.089) 13 47 0 0 0.001855 0 0 LRP1B 53353 broad.mit.edu 37 2 141128783 141128783 + Missense_Mutation SNP T T A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:141128783T>A ENST00000389484.3 - 70 11811 c.10840A>T c.(10840-10842)Aat>Tat p.N3614Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3614 LDL-receptor class A 28. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATTCTCCATTACATTTCAAA 0.299000 TSP Lung(27;0.18) 17 21 0 0 0.004990 0 0 PPM1D 8493 broad.mit.edu 37 17 58678140 58678140 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:58678140G>T ENST00000305921.3 + 1 597 c.365G>T c.(364-366)gGt>gTt p.G122V NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 122 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) CACTTGTGGGGTTTCATCAAG 0.637000 7 35 1.26484e-09 1.81478e-09 0.003080 1 0 FBXW7 55294 broad.mit.edu 37 4 153247297 153247297 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:153247297G>A ENST00000281708.4 - 10 2734 c.1505C>T c.(1504-1506)gCa>gTa p.A502V FBXW7_ENST00000393956.3_Missense_Mutation_p.A326V|FBXW7_ENST00000263981.5_Missense_Mutation_p.A422V|FBXW7_ENST00000603841.1_Missense_Mutation_p.A502V|FBXW7_ENST00000603548.1_Missense_Mutation_p.A502V|FBXW7_ENST00000296555.5_Missense_Mutation_p.A384V NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 502 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GCGGACTGCTGCAACATGACC 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 41 53 0 0 0.002522 0 0 TIAF1 9220 broad.mit.edu 37 17 27400997 27400997 + Missense_Mutation SNP T T C rs115510379 by1000genomes TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:27400997T>C ENST00000359450.6 - 1 4878 c.221A>G c.(220-222)aAt>aGt p.N74S MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.N74S|MYO18A_ENST00000533112.1_3'UTR NM_004740.3 NP_004731.2 O95411 TIAF1_HUMAN TGFB1-induced anti-apoptotic factor 1 74 anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade nucleus kidney(1)|lung(1)|urinary_tract(1) 3 Lung NSC(42;0.015) Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) AAATAGGTCATTGCACATAAC 0.552000 25 74 0 0 0.002780 0 0 LRP2 4036 broad.mit.edu 37 2 170129520 170129520 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:170129520T>C ENST00000263816.3 - 15 2318 c.2033A>G c.(2032-2034)cAc>cGc p.H678R LRP2_ENST00000443831.1_Missense_Mutation_p.H609R NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 678 EGF-like 3. 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) ATCTGTTCTGTGGCTGAGGAC 0.453000 57 100 0 0 0.003610 0 0 SLC45A2 51151 broad.mit.edu 37 5 33984637 33984637 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:33984637C>G ENST00000382102.3 - 1 109 c.52G>C c.(52-54)Gat>Cat p.D18H SLC45A2_ENST00000342059.3_Missense_Mutation_p.D18H|SLC45A2_ENST00000345083.5_Missense_Mutation_p.D18H|SLC45A2_ENST00000509381.1_Missense_Mutation_p.D18H|SLC45A2_ENST00000296589.4_Missense_Mutation_p.D18H NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 18 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 GGGCCATCATCAGCTAGGGAT 0.582000 18 58 0 0 0.004990 0 0 PRDM8 56978 broad.mit.edu 37 4 81123531 81123531 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:81123531C>T ENST00000339711.4 + 10 2146 c.915C>T c.(913-915)atC>atT p.I305I PRDM8_ENST00000504452.1_Silent_p.I305I|PRDM8_ENST00000415738.2_Silent_p.I305I NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 305 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 CCGACGGCATCGCCACGGGCG 0.746000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 5 0 0 0.000248 0 0 PDGFD 80310 broad.mit.edu 37 11 103870957 103870957 + Nonsense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:103870957G>A ENST00000302251.5 - 2 584 c.133C>T c.(133-135)Cga>Tga p.R45* PDGFD_ENST00000393158.2_Nonsense_Mutation_p.R51* NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 51 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TCATCTCTTCGGTACAAGTCT 0.458000 25 353 0 0 0.004656 0 0 C11orf84 144097 broad.mit.edu 37 11 63594564 63594564 + Missense_Mutation SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:63594564T>G ENST00000294244.4 + 6 1398 c.1099T>G c.(1099-1101)Tcc>Gcc p.S367A NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 367 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 TCTGTCAGAATCCAGCACCAC 0.617000 11 44 0 0 0.001368 0 0 KCNB2 9312 broad.mit.edu 37 8 73480238 73480238 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:73480238A>G ENST00000523207.1 + 2 857 c.269A>G c.(268-270)gAt>gGt p.D90G NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 90 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TATTTCTTTGATCGGCATCCA 0.493000 33 91 0 0 0.002445 0 0 STEAP2 261729 broad.mit.edu 37 7 89859238 89859238 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:89859238A>G ENST00000287908.3 + 4 1466 c.1073A>G c.(1072-1074)gAa>gGa p.E358G STEAP2_ENST00000394621.2_Missense_Mutation_p.E358G|STEAP2_ENST00000394626.1_Missense_Mutation_p.E358G|STEAP2_ENST00000402625.2_Missense_Mutation_p.E358G|STEAP2_ENST00000394632.1_Missense_Mutation_p.E358G|STEAP2_ENST00000394622.2_Missense_Mutation_p.E358G|STEAP2_ENST00000394629.2_Missense_Mutation_p.E358G NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 358 Ferric oxidoreductase. electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) TGGAGAATTGAAATGTATATC 0.373000 3 126 0 0 0.004672 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428349 170428349 + Nonsense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:170428349G>C ENST00000453153.2 - 2 537 c.191C>G c.(190-192)tCa>tGa p.S64* FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.S64* NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 64 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 TTGCTTTTCTGAAAGTATGGC 0.378000 30 46 0 0 0.002445 0 0 JAK3 3718 broad.mit.edu 37 19 17948809 17948809 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:17948809C>G ENST00000458235.1 - 12 1732 c.1633G>C c.(1633-1635)Gat>Cat p.D545H JAK3_ENST00000527670.1_Missense_Mutation_p.D545H|JAK3_ENST00000534444.1_Missense_Mutation_p.D545H NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 545 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GCCTCCCCATCCACCACCTCA 0.567000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 67 95 0 0 0.003610 0 0 HFE 3077 broad.mit.edu 37 6 26091716 26091716 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:26091716A>G ENST00000357618.5 + 3 637 c.515A>G c.(514-516)cAc>cGc p.H172R HFE_ENST00000352392.4_Intron|HFE_ENST00000349999.4_Missense_Mutation_p.H84R|HFE_ENST00000317896.7_Intron|HFE_ENST00000353147.5_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.H172R|HFE_ENST00000488199.1_Missense_Mutation_p.H84R|HFE_ENST00000397022.3_Missense_Mutation_p.H149R|HFE_ENST00000336625.8_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.H172R|HFE_ENST00000309234.6_Missense_Mutation_p.H172R NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis 172 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGGGAAAGGCACAAGATTCGG 0.597000 Hemochromatosis 12 33 0 0 0.001368 0 0 ZNF99 7652 broad.mit.edu 37 19 22942464 22942464 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:22942464G>C ENST00000397104.3 - 4 309 c.310C>G c.(310-312)Caa>Gaa p.Q104E ZNF99_ENST00000596209.1_Missense_Mutation_p.Q83E zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CAAAAGTCTTGTGTAAAATGA 0.279000 16 17 0 0 0.003163 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310543 57310543 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:57310543A>T ENST00000457912.1 + 2 482 c.482A>T c.(481-483)gAg>gTg p.E161V SMTNL1_ENST00000527972.1_Missense_Mutation_p.E143V|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E143V E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 143 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GAGGAGAAAGAGGCCAAACCT 0.532000 4 18 0 0 0.000602 0 0 PICALM 8301 broad.mit.edu 37 11 85718613 85718613 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:85718613T>C ENST00000526033.1 - 8 1095 c.779A>G c.(778-780)gAc>gGc p.D260G PICALM_ENST00000393346.3_Missense_Mutation_p.D260G|PICALM_ENST00000532317.1_Missense_Mutation_p.D260G|PICALM_ENST00000356360.5_Missense_Mutation_p.D260G|PICALM_ENST00000528398.1_Missense_Mutation_p.D209G NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 260 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) ATCACCTCTGTCAATTCCAAC 0.289000 T """MLLT10, MLL""" """TALL, AML, """ 3 96 0 0 0.004672 0 0 ENPP2 5168 broad.mit.edu 37 8 120596204 120596204 + Nonsense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:120596204G>A ENST00000427067.2 - 16 1621 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* ENPP2_ENST00000522826.1_Nonsense_Mutation_p.Q485*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.Q485*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.Q124*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.Q537* Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 485 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CATCATACCTGCATGCTGTTG 0.363000 81 249 0 0 0.003610 0 0 NAPRT1 93100 broad.mit.edu 37 8 144658617 144658617 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:144658617C>T ENST00000449291.2 - 7 1301 c.1007G>A c.(1006-1008)cGa>cAa p.R336Q NAPRT1_ENST00000435154.3_Missense_Mutation_p.R336Q|NAPRT1_ENST00000276844.7_Missense_Mutation_p.R336Q|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R336Q|RP11-661A12.9_ENST00000531730.1_RNA Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 336 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) TGCAGCAGCTCGGAAGACCTT 0.652000 18 40 0 0 0.006122 0 0 SPHAR 10638 broad.mit.edu 37 1 229440922 229440922 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:229440922A>G ENST00000366688.3 + 1 794 c.41A>G c.(40-42)tAt>tGt p.Y14C RAB4A_ENST00000366690.4_3'UTR NM_006542.3 NP_006533.1 Q15513 SPHAR_HUMAN S-phase response (cyclin related) 14 DNA replication Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) TGTTTTAGATATTTTGAGTTT 0.299000 26 32 0 0 0.003330 0 0 RGL2 5863 broad.mit.edu 37 6 33264552 33264552 + Splice_Site SNP A A C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:33264552A>C ENST00000497454.1 - 4 737 c.240_splice c.e4-1 p.V81_splice RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_5'UTR|PFDN6_ENST00000463584.1_Intron NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 81 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 AGGCATAGGGACCTGGAGAAC 0.562000 21 31 0 0 0.008871 0 0 HEXIM1 10614 broad.mit.edu 37 17 43226879 43226879 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:43226879G>C ENST00000332499.2 + 1 2196 c.322G>C c.(322-324)Gaa>Caa p.E108Q NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 108 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCCGCCGGCAGAAGTGGAACC 0.677000 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 5 0 0 0.000602 0 0 CLEC18B 497190 broad.mit.edu 37 16 74455117 74455117 + Silent SNP G G A rs141907838 byFrequency TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:74455117G>A ENST00000339953.5 - 1 173 c.52C>T c.(52-54)Ctg>Ttg p.L18L NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 18 extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGGAGGGCCAGGAGCACAGCC 0.682000 24 99 0 0 0.008361 0 0 NOVA1 4857 broad.mit.edu 37 14 26949229 26949229 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:26949229C>A ENST00000539517.2 - 3 718 c.401G>T c.(400-402)aGc>aTc p.S134I NOVA1_ENST00000465357.2_Missense_Mutation_p.S134I|NOVA1_ENST00000547619.1_Missense_Mutation_p.S134I|NOVA1_ENST00000344429.5_Missense_Mutation_p.S134I|NOVA1_ENST00000574031.1_Missense_Mutation_p.S134I|NOVA1_ENST00000267422.7_Missense_Mutation_p.S12I NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 137 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TTGTAGAATGCTGACTGGTTC 0.418000 48 86 6.9144e-35 1.05312e-34 0.003610 1 0 DOCK7 85440 broad.mit.edu 37 1 63027299 63027299 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:63027299T>C ENST00000251157.5 - 19 2221 c.2188A>G c.(2188-2190)Atc>Gtc p.I730V DOCK7_ENST00000340370.5_Missense_Mutation_p.I730V NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 730 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TGTGTATGGATAGACGAAACA 0.294000 39 66 0 0 0.006999 0 0 LILRB4 11006 broad.mit.edu 37 19 55179390 55179390 + Missense_Mutation SNP A A G rs534751 TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:55179390A>G ENST00000391736.1 + 14 1582 c.1267A>G c.(1267-1269)Aag>Gag p.K423E LILRB4_ENST00000270452.2_Missense_Mutation_p.K423E|LILRB4_ENST00000391733.3_Missense_Mutation_p.K424E|LILRB4_ENST00000430952.2_Missense_Mutation_p.K422E|LILRB4_ENST00000391734.3_Missense_Mutation_p.K370E 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 4 423 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) CCTCAGACAGAAGGCAACTGA 0.622000 5 133 0 0 0.001168 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249107242 249107242 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:249107242G>A ENST00000366472.5 - 6 1886 c.657C>T c.(655-657)atC>atT p.I219I SH3BP5L_ENST00000411742.2_Silent_p.I187I|SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 219 p.I219I(2) endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGCTCTTGCCGATGGCCCTCC 0.652000 25 43 0 0 0.002096 0 0 FAM135B 51059 broad.mit.edu 37 8 139160898 139160898 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:139160898C>G ENST00000395297.1 - 14 3483 c.3313G>C c.(3313-3315)Gaa>Caa p.E1105Q NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1105 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATCTTCAGTTCTTTTTTAAAT 0.368000 HNSCC(54;0.14) 10 55 0 0 0.008291 0 0 VTN 7448 broad.mit.edu 37 17 26696658 26696658 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:26696658C>G ENST00000226218.4 - 3 1017 c.399G>C c.(397-399)gaG>gaC p.E133D SEBOX_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 133 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) AGTCTATCCCCTCAGGCTTAG 0.622000 17 21 0 0 0.004007 0 0 RUNX1T1 862 broad.mit.edu 37 8 92983007 92983007 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:92983007C>T ENST00000523629.1 - 11 1872 c.1418G>A c.(1417-1419)cGg>cAg p.R473Q RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R484Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R473Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R436Q NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 473 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTGGGCTTTCCGCTCCGCCTC 0.617000 27 29 0 0 0.004656 0 0 RFFL 117584 broad.mit.edu 37 17 33348470 33348470 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:33348470G>T ENST00000315249.7 - 3 733 c.511C>A c.(511-513)Cca>Aca p.P171T RFFL_ENST00000447669.2_Missense_Mutation_p.P171T|RFFL_ENST00000584655.1_Missense_Mutation_p.P171T|RFFL_ENST00000268850.7_Missense_Mutation_p.P171T|RFFL_ENST00000415395.2_Missense_Mutation_p.P171T|RFFL_ENST00000413582.2_Missense_Mutation_p.P171T|RFFL_ENST00000378516.2_Missense_Mutation_p.P171T|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000394597.2_Missense_Mutation_p.P171T Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 171 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) GAGGTAGGTGGAACCATGCTG 0.587000 13 19 2.27111e-07 3.212e-07 0.001368 1 0 KIFC2 90990 broad.mit.edu 37 8 145698668 145698668 + Silent SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:145698668G>T ENST00000301332.2 + 17 2729 c.2352G>T c.(2350-2352)ccG>ccT p.P784P KIFC2_ENST00000301331.5_3'UTR NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 784 Pro-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCCGCTCACCGGGACCCCCTG 0.741000 7 16 0.000157383 0.000216402 0.003080 1 0 CNTN5 53942 broad.mit.edu 37 11 99715973 99715973 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:99715973G>C ENST00000524871.1 + 6 846 c.556G>C c.(556-558)Gaa>Caa p.E186Q CNTN5_ENST00000528682.1_Missense_Mutation_p.E186Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.E186Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.E112Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.E186Q NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 186 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCTTAGTAGAGAAGCTACACT 0.338000 38 362 0 0 0.006230 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 119 0 0 0.000248 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597187 136597187 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:136597187T>C ENST00000531224.1 - 5 1728 c.1476A>G c.(1474-1476)aaA>aaG p.K492K BCLAF1_ENST00000527759.1_Silent_p.K490K|BCLAF1_ENST00000353331.4_Silent_p.K490K|BCLAF1_ENST00000527536.1_Silent_p.K492K|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Silent_p.K490K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 492 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.K492K(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTGAGTTTCTTTCTTTACTG 0.378000 31 201 0 0 0.008361 0 0 GPR64 10149 broad.mit.edu 37 X 19022962 19022962 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:19022962C>A ENST00000379878.3 - 22 2068 c.1827G>T c.(1825-1827)atG>atT p.M609I GPR64_ENST00000379869.3_Missense_Mutation_p.M625I|GPR64_ENST00000379876.1_Missense_Mutation_p.M601I|GPR64_ENST00000379873.2_Missense_Mutation_p.M625I|GPR64_ENST00000357544.3_Missense_Mutation_p.M595I|GPR64_ENST00000360279.4_Missense_Mutation_p.M603I|GPR64_ENST00000357991.3_Missense_Mutation_p.M622I|GPR64_ENST00000354791.3_Missense_Mutation_p.M609I|GPR64_ENST00000340581.3_Missense_Mutation_p.M506I|GPR64_ENST00000356606.4_Missense_Mutation_p.M611I NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 625 GPS. neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TCAGAGCCATCATTTGAGCAG 0.338000 84 31 1.79992e-35 2.75554e-35 0.003610 1 0 RASL12 51285 broad.mit.edu 37 15 65347288 65347288 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:65347288G>T ENST00000220062.4 - 5 1026 c.750C>A c.(748-750)agC>agA p.S250R RASL12_ENST00000434605.2_Missense_Mutation_p.S239R|RASL12_ENST00000421977.3_Missense_Mutation_p.S231R NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 250 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 CCTTGCGCTTGCTCTGGGCCC 0.627000 OREG0023189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 15 2.23348e-06 3.11429e-06 0.004007 1 0 ADCY9 115 broad.mit.edu 37 16 4165167 4165167 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:4165167G>A ENST00000294016.3 - 2 815 c.277C>T c.(277-279)Ccc>Tcc p.P93S NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 93 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TCGAACTTGGGGTCCCACCAG 0.706000 12 42 0 0 0.001368 0 0 PCIF1 63935 broad.mit.edu 37 20 44571864 44571864 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:44571864A>G ENST00000372409.3 + 8 1166 c.802A>G c.(802-804)Atg>Gtg p.M268V NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 268 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 TCGTGAAATCATGAACGACAT 0.537000 24 128 0 0 0.004656 0 0 SPATA18 132671 broad.mit.edu 37 4 52943055 52943055 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:52943055G>T ENST00000295213.4 + 7 1243 c.869G>T c.(868-870)cGc>cTc p.R290L SPATA18_ENST00000419395.2_Missense_Mutation_p.R258L NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 290 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TCCCCAAACCGCTCCAAGCTG 0.682000 15 28 0.000566183 0.00077136 0.004990 1 0 NPHS1 4868 broad.mit.edu 37 19 36335330 36335330 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:36335330C>T ENST00000378910.5 - 15 1961 c.1962G>A c.(1960-1962)ctG>ctA p.L654L NPHS1_ENST00000353632.6_Silent_p.L654L NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 654 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGGTCACCACCAGCACCTGCT 0.637000 3 3 0 0 0.004672 0 0 ABCC12 94160 broad.mit.edu 37 16 48138167 48138167 + Missense_Mutation SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:48138167T>G ENST00000311303.3 - 20 3131 c.2786A>C c.(2785-2787)aAc>aCc p.N929T ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 929 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CTGCAGAAAGTTCTCTGCGTG 0.493000 15 310 0 0 0.003163 0 0 FHOD3 80206 broad.mit.edu 37 18 34298136 34298136 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr18:34298136G>C ENST00000257209.4 + 16 2472 c.2350G>C c.(2350-2352)Gag>Cag p.E784Q FHOD3_ENST00000445677.1_Missense_Mutation_p.E746Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.E959Q|FHOD3_ENST00000359247.4_Missense_Mutation_p.E767Q|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 767 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CCCTGATGCTGAGCCCAATGA 0.542000 41 249 0 0 0.003214 0 0 STX6 10228 broad.mit.edu 37 1 180959168 180959168 + Silent SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:180959168G>C ENST00000258301.5 - 5 678 c.441C>G c.(439-441)ctC>ctG p.L147L STX6_ENST00000542060.1_Silent_p.L46L NM_005819.4 NP_005810.1 O43752 STX6_HUMAN syntaxin 6 147 Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 TGGCTCTCTGGAGCTCTCGGT 0.557000 48 66 0 0 0.003610 0 0 TPTE 7179 broad.mit.edu 37 21 10933918 10933918 + Nonsense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr21:10933918C>A ENST00000298232.7 - 16 1274 c.907G>T c.(907-909)Gaa>Taa p.E303* TPTE_ENST00000342420.5_Nonsense_Mutation_p.E283*|TPTE_ENST00000361285.4_Nonsense_Mutation_p.E321*|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 321 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TCATTTACTTCCTTGGTGAAA 0.333000 51 315 1.48341e-19 2.20286e-19 0.003610 1 0 FGF5 2250 broad.mit.edu 37 4 81188009 81188009 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:81188009T>C ENST00000456523.3 + 1 217 c.31T>C c.(31-33)Ttc>Ctc p.F11L FGF5_ENST00000312465.7_Missense_Mutation_p.F11L NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 11 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 CCTCCTCTTCTTCAGCCACCT 0.622000 32 42 0 0 0.003755 0 0 CCT2 10576 broad.mit.edu 37 12 69986801 69986801 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:69986801G>C ENST00000543146.2 + 9 1137 c.655G>C c.(655-657)Gaa>Caa p.E219Q CCT2_ENST00000544368.2_Missense_Mutation_p.E266Q|CCT2_ENST00000299300.6_Missense_Mutation_p.E266Q NM_001198842.1 NP_001185771.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 266 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AAAGGTTGCAGAAATAGAACA 0.343000 13 35 0 0 0.004007 0 0 PCDH15 65217 broad.mit.edu 37 10 55568819 55568819 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr10:55568819C>G ENST00000395445.1 - 36 5385 c.4991G>C c.(4990-4992)aGa>aCa p.R1664T PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.R598T|PCDH15_ENST00000395446.1_Missense_Mutation_p.R860T|PCDH15_ENST00000395442.1_Missense_Mutation_p.R529T NM_001142769.1 NP_001136241.1 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) CATGGGCCTTCTTCTTGCAAG 0.463000 HNSCC(58;0.16) 11 25 0 0 0.008291 0 0 SYNE2 23224 broad.mit.edu 37 14 64494410 64494410 + Nonsense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:64494410C>T ENST00000358025.3 + 43 6843 c.6613C>T c.(6613-6615)Cag>Tag p.Q2205* SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q2205*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q2205*|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2205 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTTAAAATCTCAGGGAAACTA 0.403000 25 38 0 0 0.004656 0 0 OR2G3 81469 broad.mit.edu 37 1 247769130 247769130 + Silent SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:247769130C>G ENST00000320002.2 + 1 275 c.243C>G c.(241-243)acC>acG p.T81T RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTCCTCAGACCTTAGTTAACT 0.458000 120 194 0 0 0.003610 0 0 KMT2C 58508 broad.mit.edu 37 7 151921619 151921619 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:151921619C>A ENST00000355193.2 - 19 3277 c.3059G>T c.(3058-3060)gGa>gTa p.G1020V KMT2C_ENST00000262189.6_Missense_Mutation_p.G1020V lysine (K)-specific methyltransferase 2C CAGGAGTCTTCCTGGGTCAGT 0.488000 13 13 0.00400662 0.00540894 0.004007 1 0 FRG1BP 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 5 84 0 0 0.004482 0 0 SMG5 23381 broad.mit.edu 37 1 156243195 156243195 + Silent SNP G G A rs151161240 byFrequency TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:156243195G>A ENST00000361813.5 - 6 735 c.591C>T c.(589-591)gcC>gcT p.A197A SMG5_ENST00000368267.4_Silent_p.A197A NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 197 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) AAAATCTCTCGGCTAGCAGCT 0.468000 19 32 0 0 0.007413 0 0 TMEM117 84216 broad.mit.edu 37 12 44537363 44537363 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:44537363A>G ENST00000266534.3 + 4 573 c.446A>G c.(445-447)aAt>aGt p.N149S TMEM117_ENST00000536799.1_Intron|TMEM117_ENST00000551577.1_Missense_Mutation_p.N149S NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 149 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) GGCATCCGAAATGAAAGTTTC 0.408000 20 36 0 0 0.001882 0 0 SHANK2 22941 broad.mit.edu 37 11 70333469 70333469 + Missense_Mutation SNP A A C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:70333469A>C ENST00000338508.4 - 32 2931 c.2932T>G c.(2932-2934)Ttc>Gtc p.F978V SHANK2_ENST00000409161.1_Missense_Mutation_p.F381V|SHANK2_ENST00000449833.2_Missense_Mutation_p.F382V|SHANK2_ENST00000423696.2_Missense_Mutation_p.F598V Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 598 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTGTTGCGGAAGTTGGCTTGC 0.587000 51 799 0 0 0.003610 0 0 MXRA5 25878 broad.mit.edu 37 X 3241328 3241328 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:3241328C>T ENST00000217939.6 - 5 2552 c.2398G>A c.(2398-2400)Gaa>Aaa p.E800K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 800 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGGGGTACTTCTGTGCCCTTA 0.468000 27 16 0 0 0.006230 0 0 SH2B3 10019 broad.mit.edu 37 12 111886081 111886081 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:111886081T>C ENST00000341259.2 + 8 2060 c.1703T>C c.(1702-1704)aTa>aCa p.I568T SH2B3_ENST00000538307.1_Missense_Mutation_p.I366T NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 568 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 CTGCGGGCCATAGACAATCAG 0.562000 6 10 0 0 0.001984 0 0 PIK3C3 5289 broad.mit.edu 37 18 39629561 39629561 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr18:39629561C>G ENST00000262039.4 + 21 2341 c.2255C>G c.(2254-2256)aCa>aGa p.T752R PIK3C3_ENST00000398870.3_Missense_Mutation_p.T689R|PIK3C3_ENST00000593098.1_Missense_Mutation_p.T237R|PIK3C3_ENST00000589056.1_Missense_Mutation_p.T99R|PIK3C3_ENST00000587402.1_Missense_Mutation_p.T99R NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 752 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 CTTTTGCTAACAAAAACAGGT 0.378000 TSP Lung(28;0.18) 34 19 0 0 0.003271 0 0 SOX5 6660 broad.mit.edu 37 12 23716248 23716248 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:23716248C>G ENST00000546136.1 - 10 1395 c.1393G>C c.(1393-1395)Gat>Cat p.D465H SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.D443H|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.D468H|SOX5_ENST00000396007.2_Missense_Mutation_p.D92H|SOX5_ENST00000451604.2_Missense_Mutation_p.D478H|SOX5_ENST00000309359.1_Missense_Mutation_p.D465H P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 478 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 ACCTTCCCATCAAGCACCTGT 0.418000 38 49 0 0 0.006999 0 0 DSCAML1 57453 broad.mit.edu 37 11 117387378 117387378 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:117387378G>A ENST00000321322.6 - 8 1768 c.1767C>T c.(1765-1767)atC>atT p.I589I DSCAML1_ENST00000527706.1_Silent_p.I319I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 529 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGGATAGCCGATGACCCTGC 0.592000 7 23 0 0 0.003080 0 0 TRPM1 4308 broad.mit.edu 37 15 31294736 31294736 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:31294736T>C ENST00000542188.1 - 27 4531 c.4218A>G c.(4216-4218)agA>agG p.R1406R RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.R1389R|TRPM1_ENST00000397795.2_Silent_p.R1367R NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1367 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGTCTGTCTGTCTTTCATCAT 0.378000 64 66 0 0 0.003610 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110416786 110416786 + Nonsense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:110416786C>G ENST00000378402.5 + 15 1481 c.1377C>G c.(1375-1377)taC>taG p.Y459* NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 459 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) TTTCCAGATACTATATTGAAA 0.299000 HNSCC(38;0.096) 9 16 0 0 0.000978 0 0 AHCY 191 broad.mit.edu 37 20 32879320 32879320 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:32879320C>T ENST00000538132.1 - 5 765 c.379G>A c.(379-381)Gag>Aag p.E127K AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Missense_Mutation_p.E155K NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 155 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GTGGTCTCCTCAGAGATGCCT 0.527000 30 88 0 0 0.007291 0 0 SLC6A15 55117 broad.mit.edu 37 12 85266514 85266514 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:85266514G>A ENST00000266682.5 - 8 1710 c.1169C>T c.(1168-1170)cCc>cTc p.P390L SLC6A15_ENST00000309283.7_Missense_Mutation_p.P98L|SLC6A15_ENST00000552192.1_Missense_Mutation_p.P283L NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 390 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 GATATGATGGGGAATAATATC 0.323000 3 37 0 0 0.004672 0 0 COL11A1 1301 broad.mit.edu 37 1 103474059 103474059 + Nonsense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:103474059G>T ENST00000358392.2 - 15 1996 c.1679C>A c.(1678-1680)tCa>tAa p.S560* COL11A1_ENST00000512756.1_Nonsense_Mutation_p.S432*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.S509*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.S548* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 548 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGCCCCAGATGAACCAGGCCC 0.373000 14 36 1.3612e-06 1.90697e-06 0.003163 1 0 PRKDC 5591 broad.mit.edu 37 8 48697813 48697813 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:48697813G>A ENST00000314191.2 - 78 11021 c.10965C>T c.(10963-10965)ctC>ctT p.L3655L PRKDC_ENST00000338368.3_Silent_p.L3655L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3656 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGAAGTCACTGAGCTTCATTC 0.363000 Non-homologous end-joining 12 33 0 0 0.001368 0 0 PCNT 5116 broad.mit.edu 37 21 47817314 47817314 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr21:47817314G>A ENST00000359568.5 + 22 4459 c.4352G>A c.(4351-4353)cGc>cAc p.R1451H PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1451 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TCTCAGCATCGCGGGTGTGCC 0.567000 29 23 0 0 0.007291 0 0 INPP4B 8821 broad.mit.edu 37 4 143094803 143094803 + Missense_Mutation SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:143094803T>G ENST00000513000.1 - 17 1774 c.1341A>C c.(1339-1341)ttA>ttC p.L447F INPP4B_ENST00000262992.4_Missense_Mutation_p.L447F|INPP4B_ENST00000308502.4_Missense_Mutation_p.L447F|INPP4B_ENST00000509777.1_Missense_Mutation_p.L447F|INPP4B_ENST00000508116.1_Missense_Mutation_p.L447F NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 447 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) AAAGCATCTTTAAAGAATTCT 0.388000 26 60 0 0 0.001786 0 0 VWA8 23078 broad.mit.edu 37 13 42293870 42293870 + Silent SNP C C T rs140209374 TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr13:42293870C>T ENST00000379310.3 - 26 3041 c.2973G>A c.(2971-2973)ccG>ccA p.P991P VWA8_ENST00000281496.6_Silent_p.P991P NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 GACCTTCAGTCGGAAATTTCT 0.303000 28 14 0 0 0.005443 0 0 SDHAP1 255812 broad.mit.edu 37 3 195692347 195692347 + RNA SNP G G A rs62282794 by1000genomes TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:195692347G>A ENST00000427841.1 - 0 2155 NR_003264.2 TTCCTCCAGTGCTCCTCAAAG 0.572000 8 21 0 0 0.000978 0 0 ATP1A1 476 broad.mit.edu 37 1 116927412 116927412 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:116927412A>G ENST00000537345.1 + 3 494 c.131A>G c.(130-132)cAt>cGt p.H44R ATP1A1_ENST00000295598.5_Missense_Mutation_p.H44R|ATP1A1_ENST00000369496.4_Missense_Mutation_p.H13R NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 44 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TAGGATGATCATAAACTTAGC 0.313000 22 39 0 0 0.002780 0 0 KIF1B 23095 broad.mit.edu 37 1 10364177 10364177 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:10364177C>T ENST00000377093.4 + 21 3087 c.2934C>T c.(2932-2934)atC>atT p.I978I KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.I978I|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_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) GGACACATATCATCATAACAG 0.453000 55 67 0 0 0.003610 0 0 TMEM219 124446 broad.mit.edu 37 16 29979372 29979372 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:29979372A>T ENST00000566848.1 + 3 849 c.382A>T c.(382-384)Atc>Ttc p.I128F TMEM219_ENST00000279396.6_Missense_Mutation_p.I128F|TMEM219_ENST00000561899.2_Missense_Mutation_p.I128F|TMEM219_ENST00000414689.2_Missense_Mutation_p.I128F Q86XT9 TM219_HUMAN transmembrane protein 219 128 integral to membrane large_intestine(1)|lung(1)|prostate(2) 4 ACTGGTCCTTATCACAGCCAG 0.507000 61 101 0 0 0.003610 0 0 P2RY10 27334 broad.mit.edu 37 X 78216656 78216656 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:78216656C>T ENST00000171757.2 + 4 919 c.639C>T c.(637-639)atC>atT p.I213I P2RY10_ENST00000544091.1_Silent_p.I213I NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 213 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CAGTGATCATCATCGCATGGT 0.478000 38 13 0 0 0.006999 0 0 ZNF91 7644 broad.mit.edu 37 19 23544264 23544264 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:23544264G>T ENST00000300619.7 - 4 1722 c.1517C>A c.(1516-1518)aCt>aAt p.T506N ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.T474N NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 506 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTTATGTTTAGTAAGGGTTGA 0.363000 9 31 5.4927e-09 7.80542e-09 0.004482 1 0 MRPS10 55173 broad.mit.edu 37 6 42179587 42179587 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:42179587C>G ENST00000053468.3 - 4 270 c.255G>C c.(253-255)aaG>aaC p.K85N NM_018141.3 NP_060611.2 P82664 RT10_HUMAN mitochondrial ribosomal protein S10 85 translation actin cytoskeleton|mitochondrion|ribosome structural constituent of ribosome endometrium(1)|lung(1) 2 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528) CCAATACAGCCTTATCGTGAC 0.388000 11 31 0 0 0.008291 0 0 WDSUB1 151525 broad.mit.edu 37 2 160139519 160139519 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:160139519G>C ENST00000409990.3 - 2 318 c.62C>G c.(61-63)tCc>tGc p.S21C WDSUB1_ENST00000392796.3_Missense_Mutation_p.S21C|WDSUB1_ENST00000409124.1_Missense_Mutation_p.S21C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S21C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S21C NM_001128213.1 NP_001121685.1 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain containing 1 21 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3) 16 GAGGGAAAAGGAGAAGGCACA 0.413000 38 42 0 0 0.006230 0 0 C4orf36 132989 broad.mit.edu 37 4 87809368 87809368 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:87809368G>C ENST00000473559.1 - 6 789 c.126C>G c.(124-126)atC>atG p.I42M C4orf36_ENST00000295898.3_Missense_Mutation_p.I42M|C4orf36_ENST00000503001.1_5'UTR Q96KX1 CD036_HUMAN chromosome 4 open reading frame 36 42 breast(1)|kidney(1)|lung(1)|prostate(1) 4 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00141) AAGGCAACTTGATATTGGCTA 0.398000 24 29 0 0 0.004656 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415528 105415528 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:105415528T>C ENST00000333244.5 - 7 6379 c.6260A>G c.(6259-6261)aAg>aGg p.K2087R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2087 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGGGGGCCCTTGAGGTCCAC 0.612000 127 200 0 0 0.003610 0 0 MRPL41 64975 broad.mit.edu 37 9 140446808 140446808 + Missense_Mutation SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:140446808T>G ENST00000371443.5 + 2 1063 c.275T>G c.(274-276)tTc>tGc p.F92C NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 92 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) GCGCAGCTCTTCAGCGAAGCC 0.622000 13 29 0 0 0.003163 0 0 OTX1 5013 broad.mit.edu 37 2 63283274 63283274 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:63283274T>C ENST00000366671.3 + 5 1164 c.888T>C c.(886-888)caT>caC p.H296H OTX1_ENST00000282549.2_Silent_p.H296H NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 296 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) accaccaccatcaccaccacc 0.642000 3 61 0 0 0.004672 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83350560 83350560 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:83350560A>G ENST00000295470.5 - 1 459 c.284T>C c.(283-285)aTa>aCa p.I95T HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.I95T|HNRNPDL_ENST00000349655.4_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like GGAGCGTTGTATGGAGCTGGA 0.667000 19 50 0 0 0.008871 0 0 TFAP4 7023 broad.mit.edu 37 16 4308235 4308235 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:4308235C>T ENST00000204517.6 - 7 1166 c.838G>A c.(838-840)Gag>Aag p.E280K NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 280 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 TGGGTGCCCTCGATGTGCTGG 0.657000 18 30 0 0 0.007413 0 0 ZMYM6 9204 broad.mit.edu 37 1 35452758 35452759 + Frame_Shift_Ins INS - - A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:35452758_35452759insA ENST00000357182.4 - 16 4151_4152 c.3924_3925insT c.(3922-3927)ctcagtfs p.S1309fs ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 1309 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GATGTGACTGCAAGTCTTAGGG 0.366 27 55 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 2 4 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 2 4 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141122323 141122323 + Frame_Shift_Del DEL G G - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:141122323delG ENST00000389484.3 - 72 12009 c.11038delC c.(11038-11040)ttfs p.L3680fs NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3680 LDL-receptor class A 30. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTATTGCAAAGGAACTCATCA 0.403 TSP Lung(27;0.18) 46 112 --- --- --- --- HSPD1P6 645548 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 2 4 --- --- --- --- SHROOM1 134549 broad.mit.edu 37 5 132161695 132161695 + Frame_Shift_Del DEL G G - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:132161695delG ENST00000378679.3 - 4 942 c.138delC c.(136-138)cgfs p.R46fs SHROOM1_ENST00000319854.3_Frame_Shift_Del_p.R46fs|SHROOM1_ENST00000378676.1_Frame_Shift_Del_p.R46fs NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 46 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCGACTGCGTGCGCGGCTCGG 0.706 2 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 3 5 --- --- --- --- HLA-A 3105 broad.mit.edu 37 6 29911958 29911959 + Frame_Shift_Ins INS - - GC TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:29911958_29911959insGC ENST00000396634.1 + 6 1020_1021 c.679_680insGC c.(679-681)ctgfs p.L227fs HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.L227fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.L227fs|HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.L227fs P30443 1A01_HUMAN major histocompatibility complex, class I, A 227 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CACCCTGAGGTGCTGGGCCCTG 0.604 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 37 120 --- --- --- --- PLEKHG1 57480 broad.mit.edu 37 6 151162005 151162006 + Frame_Shift_Del DEL GT GT - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:151162005_151162006delGT ENST00000367328.1 + 17 4443_4444 c.4131_4132delGT c.(4129-4134)cagtfs p.QC1377fs PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.QC1377fs NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1377 Q -> P (in dbSNP:rs58786678). regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AAAAATTTCAGTGTCTCAGTTC 0.366 13 94 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 4 2 --- --- --- --- HEATR5A 25938 broad.mit.edu 37 14 31819914 31819915 + Frame_Shift_Ins INS - - A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:31819914_31819915insA ENST00000543095.2 - 17 2604_2605 c.2420_2421insT c.(2419-2421)attfs p.I807fs HEATR5A_ENST00000439727.1_Frame_Shift_Ins_p.I514fs|HEATR5A_ENST00000404677.3_Frame_Shift_Ins_p.I807fs|HEATR5A_ENST00000389961.3_Frame_Shift_Ins_p.I801fs|HEATR5A_ENST00000439348.1_Frame_Shift_Ins_p.I801fs NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 801 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) GCTGTTCCAATATAAGAAGCCT 0.351 6 10 --- --- --- --- CLK3 1198 broad.mit.edu 37 15 74919886 74919888 + In_Frame_Del DEL GAG GAG - rs149199059 TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:74919886_74919888delGAG ENST00000395066.3 + 9 1824_1826 c.1363_1365delGAG c.(1363-1365)del p.E456del CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_In_Frame_Del_p.E308del|CLK3_ENST00000352989.5_In_Frame_Del_p.E285del NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 456 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 TCAGAGCTGTGAGGAGAAGTCAG 0.576 54 54 --- --- --- --- LAMP5 24141 broad.mit.edu 37 20 9496163 9496180 + In_Frame_Del DEL CTGAAAAAGATATATTTG CTGAAAAAGATATATTTG - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:9496163_9496180delCTGAAAAAGATATATTTG ENST00000246070.2 + 2 620_637 c.128_145delCTGAAAAAGATATATTTG c.(127-147)ctg>c p.PEKDIFV43del LAMP5_ENST00000427562.2_In_Frame_Del_p.PEKDIFV43del NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 43 integral to membrane TCCACTAACCCTGAAAAAGATATATTTGTGGTGCGGGA 0.436 24 96 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 8 150 --- --- --- ---