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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 10 96 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4016903 4016903 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:4016903C>T ENST00000294016.3 - 11 3473 c.2935G>A c.(2935-2937)Ggc>Agc p.G979S NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 979 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 ACCTCCTGGCCGATGAGGCTG 0.582000 119 299 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971000 21971000 + Nonsense_Mutation SNP C C A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:21971000C>A ENST00000304494.5 - 2 628 c.358G>T c.(358-360)Gag>Tag p.E120* RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 120 E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGGCCCAGCTCCTCAGCCAGG 0.726000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 50 80 2.01872e-29 2.11965e-29 1 1 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 20 249 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 6 206 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 8 1230 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288916 74288916 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:74288916G>A ENST00000262765.5 - 4 1573 c.1394C>T c.(1393-1395)gCc>gTc p.A465V NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 465 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 accaggttgggccaaaccaga 0.557000 4 137 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 6 326 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51743211 51743211 + Missense_Mutation SNP G G A rs144180122 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:51743211G>A ENST00000395052.3 + 2 446 c.212G>A c.(211-213)cGc>cAc p.R71H GRM2_ENST00000442933.2_Missense_Mutation_p.R71H|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 71 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCACTGGACCGCATCAACCGT 0.632000 6 670 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr21:11058340A>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) GGGGTAAAGGAGAGAAATCTC 0.363000 25 538 0 0 1 0 0 IGHV3-21 0 broad.mit.edu 37 14 106691922 106691922 + RNA SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:106691922C>T ENST00000390607.2 - 0 180 TCAGGGACCCCCCAGGCTTGA 0.587000 9 709 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 5 98 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111746 57111746 + Missense_Mutation SNP A A G rs2958150 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:57111746A>G ENST00000454682.1 - 3 3849 c.3568T>C c.(3568-3570)Tcc>Ccc p.S1190P NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCTTTGGGGGATGGGGTAGCT 0.632000 T BCL6 NHL 14 553 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197393 39197393 + Missense_Mutation SNP T T C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:39197393T>C ENST00000306271.4 - 1 320 c.257A>G c.(256-258)tAc>tGc p.Y86C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 86 Missing (in allele KAP1.7). extracellular region|keratin filament p.Y86C(4) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGTCTGGTAGCAGCTTGG 0.587000 5 356 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362933 36362933 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:36362933G>A ENST00000221891.4 + 6 1037 c.845G>A c.(844-846)gGc>gAc p.G282D APLP1_ENST00000537454.2_Missense_Mutation_p.G243D|APLP1_ENST00000586861.1_Missense_Mutation_p.G276D NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 282 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 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) GCAGTGGTCGGCAAAGGTGAG 0.582000 6 727 0 0 1 0 0 PGBD5 79605 broad.mit.edu 37 1 230461101 230461101 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:230461101G>A ENST00000321327.2 - 8 1423 c.1424C>T c.(1423-1425)gCc>gTc p.A475V PGBD5_ENST00000525115.1_Missense_Mutation_p.A376V|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.A330V Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 376 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) CAGGTGAGCGGCAAACGCCTC 0.547000 6 711 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17405196 17405196 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:17405196G>A ENST00000247706.3 - 4 1289 c.1050C>T c.(1048-1050)ggC>ggT p.G350G MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 350 hydrolase activity p.G350G(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 AGACCTCGTCGCCCTCGGGCC 0.612000 119 166 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49232704 49232704 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:49232704G>A ENST00000222145.4 - 5 1527 c.1323C>T c.(1321-1323)cgC>cgT p.R441R NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 441 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CAGGGCCCGCGCGCACTGTGC 0.741000 5 25 0 0 1 0 0 MICU1 10367 broad.mit.edu 37 10 74310995 74310995 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr10:74310995C>T ENST00000398761.4 - 4 567 c.435G>A c.(433-435)gtG>gtA p.V145V MICU1_ENST00000401998.3_Silent_p.V145V|MICU1_ENST00000361114.5_Silent_p.V145V Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 145 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding GTGTCATAAACACTTCTGCTT 0.388000 56 69 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 7 279 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 5 250 0 0 1 0 0 ZNF772 400720 broad.mit.edu 37 19 57985198 57985198 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:57985198C>T ENST00000343280.4 - 5 1174 c.914G>A c.(913-915)cGc>cAc p.R305H ZNF772_ENST00000356584.3_Missense_Mutation_p.R264H|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R193H|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron NM_001024596.2 NP_001019767.1 Q68DY9 ZN772_HUMAN zinc finger protein 772 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3) 9 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) TATGGGTTTGCGGCTAAAGGT 0.458000 6 768 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642976 1642976 + Silent SNP A A G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:1642976A>G ENST00000399682.1 - 1 392 c.348T>C c.(346-348)ggT>ggC p.G116G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 116 9 X 4 AA repeats of C-C-X-P. keratin filament p.G116G(3) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCCTTGGAACCCCCACAGG 0.662000 15 369 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175612881 175612881 + Nonsense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:175612881G>A ENST00000348749.5 - 9 1422 c.1345C>T c.(1345-1347)Cga>Tga p.R449* CHRNA1_ENST00000261007.5_Nonsense_Mutation_p.R474*|CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.R367*|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.R369* NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 474 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 TCAATGAGTCGACCTGCAAAC 0.502000 4 244 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 422 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887403 9887403 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr18:9887403C>T ENST00000306084.6 + 2 1126 c.927C>T c.(925-927)ccC>ccT p.P309P TXNDC2_ENST00000357775.4_Silent_p.P242P|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 309 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCATCCAGCCCAAGGAGGGTG 0.607000 6 311 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112272 57112272 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:57112272C>T ENST00000454682.1 - 3 3323 c.3042G>A c.(3040-3042)gtG>gtA p.V1014V NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGGGAGGAGTCACAGCTGGGG 0.657000 T BCL6 NHL 5 282 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48411864 48411864 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:48411864G>A ENST00000435803.1 + 33 10927 c.10903G>A c.(10903-10905)Gtt>Att p.V3635I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3635 transport integral to membrane ATP binding|ATPase activity p.V3635I(1)|p.V3580I(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCTGGCCATCGTTCTGAAAAC 0.468000 110 292 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141767225 141767225 + Splice_Site SNP C C T rs7778384 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:141767225C>T ENST00000475668.2 + 42 5058 c.5004_splice c.e42+1 p.R1668_splice MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1668 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCCTGGAGCGCGTGAGTATGG 0.592000 6 269 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9609296 9609296 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:9609296G>A ENST00000310430.6 + 19 3036 c.3010G>A c.(3010-3012)Gta>Ata p.V1004I TNKS_ENST00000518281.1_Missense_Mutation_p.V767I NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1004 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AGAGTTGGCCGTAGGAGGAGC 0.542000 6 520 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61444872 61444872 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:61444872C>T ENST00000370461.1 + 5 4026 c.1749C>T c.(1747-1749)gcC>gcT p.A583A OGFR_ENST00000290291.6_Silent_p.A635A|OGFR_ENST00000370468.3_Intron Q9NZT2 OGFR_HUMAN opioid growth factor receptor 635 7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) ACGAGCCAGCCGAGAGCCCAT 0.736000 14 338 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 4 154 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466968 56466968 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:56466968C>T ENST00000291971.3 + 3 1615 c.1544C>T c.(1543-1545)gCg>gTg p.A515V NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 515 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAATTTTTTGCGGCCTTGTTT 0.468000 6 978 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 15 170 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28635275 28635275 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:28635275C>T ENST00000264716.4 + 4 1804 c.941C>T c.(940-942)tCa>tTa p.S314L FOSL2_ENST00000545753.1_Missense_Mutation_p.S275L|FOSL2_ENST00000379619.1_Missense_Mutation_p.S306L NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 314 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) GGGGACCAATCATCAGACTCC 0.622000 54 145 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429875 135429875 + Missense_Mutation SNP C C A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chrX:135429875C>A ENST00000394143.1 + 6 4301 c.4010C>A c.(4009-4011)aCa>aAa p.T1337K GPR112_ENST00000287534.4_Missense_Mutation_p.T1274K|GPR112_ENST00000394141.1_Missense_Mutation_p.T1132K|GPR112_ENST00000370652.1_Missense_Mutation_p.T1337K|GPR112_ENST00000412101.1_Missense_Mutation_p.T1132K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1337 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCTGGAAGCACACAGATTACA 0.463000 121 104 1.45844e-59 1.57512e-59 1 1 0 PKD1 5310 broad.mit.edu 37 16 2156826 2156826 + Missense_Mutation SNP T T C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:2156826T>C ENST00000262304.4 - 17 7397 c.7189A>G c.(7189-7191)Agc>Ggc p.S2397G PKD1_ENST00000423118.1_Missense_Mutation_p.S2397G NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2397 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GAGCCGCTGCTGCAATTGAGG 0.662000 7 71 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 127 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858795 149858795 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:149858795G>A ENST00000331380.2 + 1 271 c.271G>A c.(271-273)Gac>Aac p.D91N NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 91 nucleosome assembly nucleosome|nucleus DNA binding p.D91H(1) NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CATCCGCAACGACGAGGAACT 0.597000 5 548 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 7 289 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130910653 130910653 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:130910653C>T ENST00000409031.1 - 19 3382 c.2234G>A c.(2233-2235)cGc>cAc p.R745H SMPD4_ENST00000452225.2_Missense_Mutation_p.R486H|SMPD4_ENST00000443958.2_Missense_Mutation_p.R409H|SMPD4_ENST00000431183.2_Missense_Mutation_p.R643H|SMPD4_ENST00000453750.1_Missense_Mutation_p.R494H|SMPD4_ENST00000339679.7_Missense_Mutation_p.R603H|SMPD4_ENST00000351288.6_Missense_Mutation_p.R716H|SMPD4_ENST00000426662.2_Missense_Mutation_p.R381H NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 706 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) AAAGAGTGTGCGGACCAAGCT 0.582000 5 430 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 6 438 3.45872e-05 3.5527e-05 1 1 0 TP53 7157 broad.mit.edu 37 17 7579479 7579479 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:7579479C>T ENST00000420246.2 - 4 340 c.208G>A c.(208-210)Gct>Act p.A70T TP53_ENST00000359597.4_Missense_Mutation_p.A70T|TP53_ENST00000269305.4_Missense_Mutation_p.A70T|TP53_ENST00000413465.2_Missense_Mutation_p.A70T|TP53_ENST00000455263.2_Missense_Mutation_p.A70T|TP53_ENST00000445888.2_Missense_Mutation_p.A70T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 70 Interaction with HRMT1L2.|Interaction with WWOX. A -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G59fs*23(3)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A70T(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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) ACGGGGGGAGCAGCCTCTGGC 0.597000 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) 222 319 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80667586 80667586 + Missense_Mutation SNP A A G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:80667586A>G ENST00000307624.3 - 3 269 c.241T>C c.(241-243)Ttc>Ctc p.F81L ACOT12_ENST00000513751.1_Missense_Mutation_p.F81L NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 81 Acyl coenzyme A hydrolase 1. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CTTGTGCTGAATGCTCTAGTA 0.393000 64 176 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156256255 156256255 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:156256255C>T ENST00000405535.2 + 3 1133 c.962C>T c.(961-963)gCc>gTc p.A321V TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Silent_p.C82C|TMEM79_ENST00000295694.5_Missense_Mutation_p.A321V NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 321 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) GGTCTCTTTGCCGTCTCCCGG 0.562000 6 612 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7533314 7533314 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:7533314C>T ENST00000507866.2 + 3 715 c.606C>T c.(604-606)acC>acT p.T202T SORCS2_ENST00000329016.9_Silent_p.T30T|SORCS2_ENST00000511199.1_3'UTR NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 202 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GTGTCACCACCGTCATCGACA 0.602000 49 126 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34923961 34923961 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr21:34923961C>T ENST00000356577.4 + 3 2899 c.2424C>T c.(2422-2424)acC>acT p.T808T SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.T808T NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 808 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.T808T(2) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGTTAGCAACCAGCTCCATGG 0.512000 10 1015 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45105106 45105106 + Silent SNP G G T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:45105106G>T ENST00000429094.2 - 11 1662 c.1158C>A c.(1156-1158)acC>acA p.T386T NELL2_ENST00000333837.4_Silent_p.T409T|NELL2_ENST00000452445.2_Silent_p.T386T|NELL2_ENST00000395487.2_Silent_p.T385T|NELL2_ENST00000437801.2_Silent_p.T436T|NELL2_ENST00000551601.1_Silent_p.T385T|NELL2_ENST00000549027.1_Silent_p.T385T NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 386 VWFC 2. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TGTGAGACAAGGTTATCTGAT 0.398000 65 224 7.75977e-34 8.23931e-34 1 1 0 TYW1 55253 broad.mit.edu 37 7 66479413 66479413 + Silent SNP T T C rs145686658 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:66479413T>C ENST00000359626.5 + 5 599 c.435T>C c.(433-435)acT>acC p.T145T NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 145 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.T145T(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) GCCTACCAACTGAAAGTGCAG 0.428000 7 609 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88924443 88924443 + Missense_Mutation SNP G G A rs148815276 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:88924443G>A ENST00000263321.5 + 2 1395 c.893G>A c.(892-894)cGg>cAg p.R298Q TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 298 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GGACCTTTACGGCGTAATCCT 0.468000 149 352 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65180274 65180274 + Missense_Mutation SNP C C A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr18:65180274C>A ENST00000310045.7 - 2 3075 c.1602G>T c.(1600-1602)caG>caT p.Q534H CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 524 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) ACTTAAGCCACTGCGCACATT 0.512000 117 133 3.87673e-39 4.13956e-39 1 1 0 ATP10A 57194 broad.mit.edu 37 15 25953374 25953374 + Missense_Mutation SNP T T G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr15:25953374T>G ENST00000356865.6 - 11 2529 c.2418A>C c.(2416-2418)gaA>gaC p.E806D NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 806 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGCGCAGGCCTTCCGCCGCAT 0.577000 100 294 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 5 161 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825946 102825946 + RNA SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:102825946C>T ENST00000312132.4 - 0 3751 GACAGCTTGACACTTGCCATT 0.373000 6 281 0 0 1 0 0 ELOVL2 54898 broad.mit.edu 37 6 10984107 10984107 + Missense_Mutation SNP C C A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:10984107C>A ENST00000354666.3 - 8 881 c.798G>T c.(796-798)atG>atT p.M266I NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 266 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) GTGGCTCTTGCATATCTTTCT 0.353000 64 186 6.00099e-30 6.33624e-30 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 11 284 0 0 1 0 0 C1orf43 25912 broad.mit.edu 37 1 154192337 154192337 + Missense_Mutation SNP A A T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:154192337A>T ENST00000368521.5 - 2 341 c.143T>A c.(142-144)gTc>gAc p.V48D C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000368519.1_Missense_Mutation_p.V48D|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.V48D NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 48 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) TCCCACAGGGACATGAGGTCC 0.428000 82 310 0 0 1 0 0 SSTR5 0 broad.mit.edu 37 16 1129924 1129924 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:1129924C>T ENST00000293897.4 + 1 1144 c.1056C>T c.(1054-1056)cgC>cgT p.R352R SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.R352R NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 352 PPAHR -> RPRT (in Ref. 1; AAA20828). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CCGCGCACCGCGCCGCAGCCA 0.711000 9 38 0 0 1 0 0 VPS33B 26276 broad.mit.edu 37 15 91557033 91557033 + Splice_Site SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr15:91557033C>T ENST00000333371.3 - 5 711 c.e5+1 VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site|VPS33B_ENST00000557358.1_Intron NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) TCCAAACTCACCTTTTGAGGG 0.522000 110 328 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783718 149783718 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:149783718C>T ENST00000427880.2 - 1 207 c.161G>A c.(160-162)gGc>gAc p.G54D HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 54 nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) GGACGAGATGCCGGTGTCGGG 0.597000 7 1268 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 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 4 251 0 0 1 0 0 IL26 55801 broad.mit.edu 37 12 68619408 68619408 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:68619408G>A ENST00000229134.4 - 1 193 c.129C>T c.(127-129)gaC>gaT p.D43D IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 43 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) TATAGAGAGCGTCAACAGCTT 0.438000 6 741 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50279783 50279783 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr22:50279783G>A ENST00000216268.4 + 2 2950 c.2473G>A c.(2473-2475)Gtg>Atg p.V825M NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 825 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCACTCGAGCGTGCAGTGCTT 0.627000 36 54 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195975170 195975170 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:195975170G>A ENST00000292823.2 - 5 414 c.242C>T c.(241-243)gCc>gTc p.A81V PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.A81V|PCYT1A_ENST00000419333.1_Missense_Mutation_p.A81V NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 81 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) TATTCCATCGGCATAAACTCT 0.383000 5 346 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170786732 170786732 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:170786732C>T ENST00000436636.2 - 30 3948 c.3604G>A c.(3604-3606)Ggt>Agt p.G1202S TNIK_ENST00000470834.1_Missense_Mutation_p.G1165S|TNIK_ENST00000460047.1_Missense_Mutation_p.G1139S|TNIK_ENST00000357327.5_Missense_Mutation_p.G1173S|TNIK_ENST00000341852.6_Missense_Mutation_p.G1118S|TNIK_ENST00000284483.8_Missense_Mutation_p.G1194S|TNIK_ENST00000369326.5_Missense_Mutation_p.G1180S|TNIK_ENST00000488470.1_Missense_Mutation_p.G1147S|TNIK_ENST00000475336.1_Missense_Mutation_p.G1110S|TNIK_ENST00000538048.1_Missense_Mutation_p.G1154S NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1202 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AATCTTTGACCTTCTTCTACC 0.388000 113 302 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 10 134 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128651 45128651 + RNA SNP G G T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:45128651G>T ENST00000575173.1 - 0 418 ttgtttttttgttttttttAG 0.299000 8 322 7.48243e-07 7.72775e-07 1 1 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 7 1086 0 0 1 0 0 PRH2 5555 broad.mit.edu 37 12 11083320 11083320 + Missense_Mutation SNP C C G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:11083320C>G ENST00000396400.3 + 3 198 c.160C>G c.(160-162)Cag>Gag p.Q54E PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.Q54E NM_001110213.1 NP_001103683.1 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 2 54 extracellular space protein binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 13 TTTGGGAGGACAGCAATCTCA 0.552000 8 550 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34901802 34901802 + Nonsense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr18:34901802G>A ENST00000420428.2 - 3 807 c.412C>T c.(412-414)Cga>Tga p.R138* CELF4_ENST00000588597.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000334919.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000591287.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000591282.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000361795.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000603232.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000601019.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.R138* NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 138 Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 CTACCTCCTCGGCTCTCGCTG 0.647000 OREG0024927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 82 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145311946 145311946 + Missense_Mutation SNP A A G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:145311946A>G ENST00000369338.1 + 10 1385 c.1195A>G c.(1195-1197)Att>Gtt p.I399V NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000342960.5_Intron|RP11-458D21.5_ENST00000468030.1_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 672 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGGCTTGGCTATTGACATGGA 0.458000 6 902 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 7049110 7049110 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:7049110C>T ENST00000381309.3 + 17 2899 c.2334C>T c.(2332-2334)tgC>tgT p.C778C KDM4C_ENST00000543771.1_Silent_p.C778C|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000381306.3_Silent_p.C778C|KDM4C_ENST00000535193.1_Silent_p.C800C|KDM4C_ENST00000428870.2_Silent_p.C465C|KDM4C_ENST00000442236.2_Silent_p.C523C NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 778 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 ATGTCATGTGCGCCGTTGCGG 0.433000 71 124 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121720701 121720701 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:121720701G>A ENST00000273691.3 - 4 495 c.390C>T c.(388-390)ctC>ctT p.L130L ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000462014.1_Silent_p.L142L|ILDR1_ENST00000344209.5_Silent_p.L130L NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 130 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CATTTATCACGAGATCTGCTC 0.517000 57 150 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8784181 8784181 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr18:8784181C>T ENST00000359865.3 + 6 1213 c.1071C>T c.(1069-1071)caC>caT p.H357H SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.H357H|SOGA2_ENST00000306329.11_Silent_p.H717H|SOGA2_ENST00000400050.3_Silent_p.H357H NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 708 AACTGCAGCACGAGAACCACG 0.677000 50 155 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871016 170871016 + Silent SNP G G A rs71792519 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:170871016G>A ENST00000392092.2 + 3 471 c.192G>A c.(190-192)caG>caA p.Q64Q TBP_ENST00000540980.1_Silent_p.Q44Q|TBP_ENST00000230354.6_Silent_p.Q64Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 64 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacaacaacagcagcagcagc 0.557000 5 167 0 0 1 0 0 A1BG 1 broad.mit.edu 37 19 58862886 58862886 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:58862886G>A ENST00000263100.3 - 5 842 c.781C>T c.(781-783)Cgc>Tgc p.R261C A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 261 Ig-like V-type 3. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) AAGAAGATGCGATCTGGGCTG 0.637000 81 242 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9583116 9583116 + Splice_Site SNP C C A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr18:9583116C>A ENST00000400556.3 - 9 990 c.918_splice c.e9+1 p.W306_splice PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Splice_Site_p.W289_splice NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 306 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 AAACCCTACCCAACGTGAAGG 0.328000 4 223 0.184627 0.185609 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 6 416 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276075 186276075 + Silent SNP T T C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:186276075T>C ENST00000445192.2 + 7 1269 c.1224T>C c.(1222-1224)acT>acC p.T408T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367485.4_Silent_p.T315T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 408 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T408T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.662000 27 463 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117848514 117848514 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:117848514C>T ENST00000350763.4 - 3 1907 c.1496G>A c.(1495-1497)cGc>cAc p.R499H TNC_ENST00000542877.1_Missense_Mutation_p.R499H|TNC_ENST00000340094.3_Missense_Mutation_p.R499H|TNC_ENST00000537320.1_Missense_Mutation_p.R499H|TNC_ENST00000345230.3_Missense_Mutation_p.R499H|TNC_ENST00000346706.3_Missense_Mutation_p.R499H|TNC_ENST00000423613.2_Missense_Mutation_p.R499H|TNC_ENST00000341037.4_Missense_Mutation_p.R499H|TNC_ENST00000535648.1_Missense_Mutation_p.R499H NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 499 EGF-like 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.R499H(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GGGGCATTGGCGATCCCGGCA 0.597000 6 560 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97400208 97400208 + Missense_Mutation SNP C C G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:97400208C>G ENST00000264963.4 - 3 384 c.362G>C c.(361-363)gGa>gCa p.G121A LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_Missense_Mutation_p.E4Q|LMAN2L_ENST00000426463.2_Missense_Mutation_p.E4Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.G121A NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 121 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 ATTCTTCTTTCCTTGTCCATG 0.468000 85 207 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 11 347 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48186036 48186036 + Missense_Mutation SNP G G T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:48186036G>T ENST00000418331.2 + 24 4176 c.3824G>T c.(3823-3825)cGa>cTa p.R1275L NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1275 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TATGACCTTCGAATGCATAGG 0.428000 4 259 1 1 1 1 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 5 242 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33374019 33374019 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:33374019G>A ENST00000428849.2 + 8 2033 c.1583G>A c.(1582-1584)cGc>cAc p.R528H NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 528 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GCTGTGGCCCGCACAGCCCAG 0.607000 6 719 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100405582 100405582 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:100405582G>A ENST00000262233.6 + 21 2379 c.2240G>A c.(2239-2241)cGg>cAg p.R747Q EML1_ENST00000334192.4_Missense_Mutation_p.R766Q|EML1_ENST00000327921.9_Missense_Mutation_p.R735Q NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 747 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding p.R766Q(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GCCGTCTGTCGGGCCCATGAG 0.552000 5 324 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62250746 62250746 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:62250746G>A ENST00000266068.1 - 1 483 c.5C>T c.(4-6)gCg>gTg p.A2V GMEB2_ENST00000370077.1_Missense_Mutation_p.A2V Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 2 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GTCGGGAGTCGCCATGGCTCA 0.632000 5 199 0 0 1 0 0 CERCAM 51148 broad.mit.edu 37 9 131193524 131193524 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:131193524G>A ENST00000372842.1 + 10 4055 c.911G>A c.(910-912)cGc>cAc p.R304H CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 382 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TACTCGGGCCGCACTCTGACC 0.627000 6 404 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 6 650 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94487297 94487297 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:94487297G>A ENST00000375708.3 - 9 1677 c.1479C>T c.(1477-1479)ttC>ttT p.F493F ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.F353F NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 493 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGGCAGGGCCGAACAGGTGAC 0.607000 7 1285 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 6 452 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 5 169 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65180275 65180275 + Missense_Mutation SNP T T A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr18:65180275T>A ENST00000310045.7 - 2 3074 c.1601A>T c.(1600-1602)cAg>cTg p.Q534L CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 524 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CTTAAGCCACTGCGCACATTC 0.517000 118 134 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 4 104 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. 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 p.V49V(2) 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 TCATCGCCGTGGGCTACGTGG 0.692000 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) 8 177 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90046453 90046453 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:90046453G>A ENST00000405460.2 + 53 11156 c.11060G>A c.(11059-11061)cGt>cAt p.R3687H NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3687 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACATATGGCCGTATAACCATA 0.343000 5 601 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 8 1580 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45665470 45665470 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:45665470G>A ENST00000267430.5 + 21 5521 c.5436G>A c.(5434-5436)ccG>ccA p.P1812P FANCM_ENST00000542564.2_Silent_p.P1786P NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1812 Interaction with FAAP24 and EME1. P -> A (in dbSNP:rs3736772). DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTAGACTTCCGCAGGAAGGAA 0.438000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 588 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792898 143792898 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:143792898G>A ENST00000408949.2 + 1 758 c.698G>A c.(697-699)cGc>cAc p.R233H NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R233L(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GGGGAGGGCCGCAGAAAGGCC 0.592000 7 954 0 0 1 0 0 LNPEP 4012 broad.mit.edu 37 5 96342191 96342191 + Silent SNP A A G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:96342191A>G ENST00000231368.5 + 11 2699 c.2007A>G c.(2005-2007)caA>caG p.Q669Q LNPEP_ENST00000395770.3_Silent_p.Q655Q NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 669 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) CAAAATATCAATCGGTATCAT 0.308000 101 271 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85774611 85774611 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:85774611C>T ENST00000521268.1 + 6 1599 c.494C>T c.(493-495)aCg>aTg p.T165M RALYL_ENST00000523850.1_Missense_Mutation_p.T92M|RALYL_ENST00000518566.1_Missense_Mutation_p.T154M|RALYL_ENST00000521695.1_Missense_Mutation_p.T165M|RALYL_ENST00000517638.1_Missense_Mutation_p.T178M|RALYL_ENST00000522455.1_Missense_Mutation_p.T165M|RALYL_ENST00000521376.1_Missense_Mutation_p.T76M NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 165 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GCAGTCACAACGACTCGCAGG 0.483000 36 88 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 417 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874291 24874291 + Missense_Mutation SNP C C T rs1143061 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr10:24874291C>T ENST00000396432.2 - 26 5413 c.4927G>A c.(4927-4929)Gtg>Atg p.V1643M NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1642 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTGGGGAACACGGGAAACTCG 0.532000 9 352 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72408662 72408662 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:72408662C>T ENST00000359373.5 - 20 3621 c.2770G>A c.(2770-2772)Gtg>Atg p.V924M ARAP1_ENST00000393605.3_Missense_Mutation_p.V684M|ARAP1_ENST00000455638.2_Missense_Mutation_p.V924M|ARAP1_ENST00000429686.1_Missense_Mutation_p.V618M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.V679M|ARAP1_ENST00000393609.3_Missense_Mutation_p.V924M|ARAP1_ENST00000334211.8_Missense_Mutation_p.V679M Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 924 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 TCCACCAGCACCAGCACCTGG 0.637000 81 255 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 7 206 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 6 410 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 72 223 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140181070 140181070 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:140181070C>T ENST00000522353.2 + 1 288 c.288C>T c.(286-288)tgC>tgT p.C96C PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.C96C|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAACTGTGCGGGCGGAGCG 0.552000 8 936 0 0 1 0 0 ITGA6 0 broad.mit.edu 37 2 173333951 173333951 + Missense_Mutation SNP G G T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:173333951G>T ENST00000375221.2 + 4 689 c.486G>T c.(484-486)agG>agT p.R162S ITGA6_ENST00000409532.1_Missense_Mutation_p.R48S|ITGA6_ENST00000409080.1_Missense_Mutation_p.R162S|ITGA6_ENST00000264106.6_Missense_Mutation_p.R162S|ITGA6_ENST00000343713.4_Missense_Mutation_p.R162S|ITGA6_ENST00000264107.7_Missense_Mutation_p.R162S P23229 ITA6_HUMAN integrin, alpha 6 162 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AGAATCTCAGGATTGAAGACG 0.473000 10 637 0.000673444 0.000684306 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 7 377 0 0 1 0 0 NMS 129521 broad.mit.edu 37 2 101089991 101089991 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:101089991G>A ENST00000376865.1 + 3 180 c.173G>A c.(172-174)cGc>cAc p.R58H NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 58 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 CCTCTTTCTCGCCAACCTAAG 0.343000 39 121 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79556050 79556050 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:79556050G>A ENST00000374747.5 - 12 1330 c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L NPLOC4_ENST00000539314.1_Silent_p.L240L|NPLOC4_ENST00000331134.6_Silent_p.L401L Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 401 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTGCATGGCAGCAAACACTCA 0.498000 5 324 0 0 1 0 0 FAM217B 63939 broad.mit.edu 37 20 58519968 58519968 + Nonsense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:58519968C>T ENST00000358293.3 + 5 1385 c.970C>T c.(970-972)Cga>Tga p.R324* FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Nonsense_Mutation_p.R324* NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 324 CGGTCACATTCGAGTTCCCAA 0.488000 54 154 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77282784 77282784 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:77282784G>A ENST00000376896.2 + 8 1690 c.1078G>A c.(1078-1080)Gct>Act p.A360T RORB_ENST00000396204.2_Missense_Mutation_p.A371T NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 371 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGAGGAGATCGCTTTGTTCTC 0.388000 150 379 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11337396 11337396 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:11337396G>A ENST00000315872.6 - 27 3806 c.3358C>T c.(3358-3360)Cgg>Tgg p.R1120W ROCK2_ENST00000401753.1_Missense_Mutation_p.R877W NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1120 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AGTTGTGACCGCAGCTGCTCA 0.438000 5 435 0 0 1 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054516 160054516 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:160054516C>T ENST00000368088.3 + 2 938 c.696C>T c.(694-696)ttC>ttT p.F232F NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 232 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCGTGGGCTTCGACACGGGAG 0.682000 3 52 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52555958 52555958 + Missense_Mutation SNP G G A rs144247661 byFrequency TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:52555958G>A ENST00000321725.6 + 58 6338 c.6262G>A c.(6262-6264)Gtg>Atg p.V2088M NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2088 EGF-like 14. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.V2088L(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGATGGCCGTGTGTGTACAGG 0.642000 63 167 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 6 422 0 0 1 0 0 HSDL1 83693 broad.mit.edu 37 16 84164829 84164829 + Missense_Mutation SNP G G A rs143907842 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:84164829G>A ENST00000219439.4 - 3 274 c.98C>T c.(97-99)aCg>aTg p.T33M HSDL1_ENST00000434463.3_Missense_Mutation_p.T33M NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 33 Required for mitochondria translocation. mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 TTTTCTGGCCGTATACCAGGC 0.493000 6 653 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 5 395 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31388677 31388677 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:31388677G>A ENST00000328111.2 + 18 2263 c.1942G>A c.(1942-1944)Gga>Aga p.G648R DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 648 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTGATTGGCGGAAGCCCATG 0.522000 5 803 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 33003024 33003024 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:33003024C>T ENST00000317907.4 + 14 1987 c.1756C>T c.(1756-1758)Cgc>Tgc p.R586C NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 586 R -> H (in dbSNP:rs17012268). 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 GGCATTTCAGCGCTGTGTGAC 0.438000 4 247 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 5 48 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274311 39274311 + Missense_Mutation SNP T T C rs425755 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:39274311T>C ENST00000391413.2 - 1 295 c.257A>G c.(256-258)aAg>aGg p.K86R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 86 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.K86R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCTTGCAGCAGCT 0.657000 6 189 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887452 9887452 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr18:9887452G>A ENST00000306084.6 + 2 1175 c.976G>A c.(976-978)Gag>Aag p.E326K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E259K|TXNDC2_ENST00000536353.2_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 326 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCAGCCCAAGGAGGGTGACAT 0.592000 5 265 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 10 1135 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133923730 133923730 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:133923730C>T ENST00000220616.4 + 19 4151 c.4111C>T c.(4111-4113)Cgg>Tgg p.R1371W TG_ENST00000377869.1_Missense_Mutation_p.R1371W NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1371 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATGGAAATCACGGCTTGAGGA 0.478000 9 613 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 5 337 0 0 1 0 0 COQ9 57017 broad.mit.edu 37 16 57486804 57486804 + Missense_Mutation SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:57486804C>T ENST00000262507.6 + 3 403 c.334C>T c.(334-336)Ccc>Tcc p.P112S COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 112 ubiquinone biosynthetic process mitochondrion p.P112S(2) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 TGAGTTTGTGCCCGCCCACGG 0.592000 5 425 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240504 39240504 + Missense_Mutation SNP A A G rs11655310 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:39240504A>G ENST00000391417.4 + 1 46 c.46A>G c.(46-48)Agc>Ggc p.S16G NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S16G(2) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCAGGGCTGCAGCCAAGACCT 0.607000 4 128 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 7 74 0 0 1 0 0 TAS1R1 0 broad.mit.edu 37 1 6638843 6638845 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:6638843_6638845delGCT ENST00000333172.6 + 6 1918_1920 c.1725_1727delGCT c.(1723-1728)acg>ac p.TL575del TAS1R1_ENST00000328191.4_In_Frame_Del_p.RC464del|TAS1R1_ENST00000351136.3_In_Frame_Del_p.TL321del NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 575 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CAGCTAACACgctgctgctgctg 0.611 7 178 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 26 323 --- --- --- --- EXOSC10 5394 broad.mit.edu 37 1 11128120 11128120 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:11128120delT ENST00000376936.4 - 24 2621 c.2572delA c.(2572-2574)ttfs p.I858fs EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.I833fs NM_001001998.1 NP_001001998.1 Q01780 EXOSX_HUMAN exosome component 10 858 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GACTGTTTAATTTTTTTGGCT 0.478 7 480 --- --- --- --- LDLRAP1 26119 broad.mit.edu 37 1 25889632 25889632 + Frame_Shift_Del DEL T T - rs6687605 byFrequency TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:25889632delT ENST00000374338.4 + 6 723 c.604delT c.(604-606)ccfs p.S202fs LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 202 S -> H (in ARH; Lebanon; requires 2 nucleotide substitutions).|S -> P (in dbSNP:rs6687605). amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) CTGCACCCCCTCCTTGAAGAG 0.637 7 262 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 8 982 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 8 387 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 17 339 --- --- --- --- LRP8 7804 broad.mit.edu 37 1 53728211 53728211 + Frame_Shift_Del DEL C C - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:53728211delC ENST00000306052.6 - 11 1782 c.1681delG c.(1681-1683)acfs p.D561fs LRP8_ENST00000354412.3_Frame_Shift_Del_p.D432fs|LRP8_ENST00000347547.2_Frame_Shift_Del_p.D391fs|LRP8_ENST00000465675.1_Frame_Shift_Del_p.D114fs|LRP8_ENST00000371454.2_Frame_Shift_Del_p.D561fs NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 561 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 TTGGCCTGGTCCCCCCAGTCA 0.512 8 1556 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 8 968 --- --- --- --- EPS8L3 79574 broad.mit.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:110300579_110300580insT ENST00000369805.3 - 9 1050_1051 c.821_822insA c.(820-822)aaafs p.K274fs EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 273 cytoplasm protein binding p.N274fs*33(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCTGGTCCTTGTTTTTTTTCCC 0.545 7 504 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 11 121 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 13 776 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 8 482 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 7 1207 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 21 1351 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576487 158576487 + Frame_Shift_Del DEL G G - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:158576487delG ENST00000361284.1 + 1 259 c.259delG c.(259-261)ggfs p.G88fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGGCCTGGCTGGGGGGGACCA 0.552 7 1190 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 7 275 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 15 532 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 11 526 --- --- --- --- DYRK3 8444 broad.mit.edu 37 1 206821441 206821441 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:206821441delA ENST00000367106.1 + 4 1311 c.838delA c.(838-840)aafs p.K281fs DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Frame_Shift_Del_p.K301fs|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.K281fs O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 301 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TGAGCTGATTAAAAAAAATAA 0.403 9 826 --- --- --- --- FLVCR1 28982 broad.mit.edu 37 1 213061902 213061903 + Frame_Shift_Ins INS - - TACT TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:213061902_213061903insTACT ENST00000366971.4 + 7 1577_1578 c.1379_1380insTACT c.(1378-1380)gacfs p.D460fs FLVCR1_ENST00000483790.1_3'UTR NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 460 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) GAATCTGAAGGTACTTCATCTG 0.361 82 437 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 11 321 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 8 330 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 11 734 --- --- --- --- LRPPRC 10128 broad.mit.edu 37 2 44145165 44145165 + Splice_Site DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:44145165delT ENST00000260665.7 - 29 3204 c.3148_splice c.e29+1 p.K1049_splice NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1049 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGTGCTTGCCTTTTTTTTGGT 0.453 10 255 --- --- --- --- MOGS 7841 broad.mit.edu 37 2 74690035 74690035 + Frame_Shift_Del DEL G G - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:74690035delG ENST00000233616.4 - 4 1043 c.881delC c.(880-882)ctfs p.P294fs MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 294 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GTAGCGTTCAGGGGGGGCCCC 0.587 8 846 --- --- --- --- SULT1C3 442038 broad.mit.edu 37 2 108863685 108863685 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:108863685delA ENST00000329106.2 + 1 35 c.35delA c.(34-36)gafs p.E12fs SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 12 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCCACGATGGAAAAAAAGCCA 0.353 8 511 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113147636 113147636 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:113147636delA ENST00000302558.3 - 20 3077 c.2886delT c.(2884-2886)ttfs p.F962fs RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 TTGTTTGGCCAAAAATCACAC 0.408 7 1857 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 9 72 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 214012404 214012405 + Frame_Shift_Del DEL AA AA - rs6738070 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:214012404_214012405delAA ENST00000442445.1 - 3 241_242 c.184_185delTT c.(184-186)gfs p.L62fs IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374319.4_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ACACACACACAAAAAAAAATCA 0.411 18 328 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 8 95 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 11 478 --- --- --- --- USP40 55230 broad.mit.edu 37 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr2:234394236_234394237insT ENST00000251722.6 - 30 3558_3559 c.3441_3442insA c.(3439-3444)aaaagafs p.R1148fs USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1148 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAATAATCTTGTTTTTTTTTCT 0.337 7 218 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 13 320 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 9 279 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122433231 122433232 + Frame_Shift_Ins INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:122433231_122433232insA ENST00000474629.2 + 12 4221_4222 c.3955_3956insA c.(3955-3957)aaafs p.K1319fs NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1319 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GCAGGAGTGTGAAAAAAAAAAT 0.421 8 195 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000475616.1_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 7 374 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 8 458 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:150877786delC ENST00000474524.1 + 7 1043 c.1005delC c.(1003-1005)ggfs p.G335fs MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGCCCTGGCCCCCCCGGCC 0.582 7 771 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 8 358 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186370137 186370137 + Frame_Shift_Del DEL C C - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr3:186370137delC ENST00000265029.3 + 7 967 c.866delC c.(865-867)acfs p.T289fs FETUB_ENST00000450521.1_Frame_Shift_Del_p.T289fs|FETUB_ENST00000539949.1_Frame_Shift_Del_p.T141fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.T224fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.T252fs|RP11-134F2.2_ENST00000455926.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 289 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAGAAAAACACCCCCCCAACA 0.498 7 987 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)gccfs p.A48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 16 1686 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 8 512 --- --- --- --- NDST4 64579 broad.mit.edu 37 4 115751026 115751026 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:115751026delA ENST00000264363.2 - 13 3097 c.2419delT c.(2419-2421)ggfs p.W807fs NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 807 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AATTGACACCAAAAACCCTTT 0.353 7 334 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126398522 126398522 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:126398522delA ENST00000335110.5 + 12 7295 c.7295delA c.(7294-7296)gafs p.E2432fs FAT4_ENST00000394329.3_Intron Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4185 Cadherin 23. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGTTTTAAAGAAAAAAAATGC 0.343 8 359 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 9 386 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 9 261 --- --- --- --- ZNF366 0 broad.mit.edu 37 5 71739906 71739906 + Frame_Shift_Del DEL G G - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:71739906delG ENST00000318442.5 - 5 2402 c.1912delC c.(1912-1914)agfs p.Q638fs NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGCTGGCTCTGGGGGGCCAGG 0.652 7 1019 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:79970915delA ENST00000265081.6 + 7 1221 c.1141delA c.(1141-1143)aafs p.K383fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 383 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTAGGGACAAAAAAAAGGG 0.348 Mismatch excision repair (MMR) 10 573 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 9 776 --- --- --- --- AFF4 27125 broad.mit.edu 37 5 132270259 132270259 + Frame_Shift_Del DEL T T - rs35626495 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr5:132270259delT ENST00000265343.5 - 3 877 c.498delA c.(496-498)aafs p.K166fs AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs|AFF4_ENST00000491831.1_5'UTR NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 166 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATGCTGGCCTTTTTTCCGGC 0.512 9 753 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 7 488 --- --- --- --- GABBR1 0 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.L783M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAAGATTCCCAGCAGCAGCAGC 0.512 10 468 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T rs17875385 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:29694802_29694803insT ENST00000259951.7 + 7 1235_1236 c.1179_1180insT c.(1177-1182)ttttttfs p.FF393fs HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron NM_001098479.1 NP_001091949.1 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGTGGATCTTGTTTTTTTTGTG 0.535 23 919 --- --- --- --- CDSN 1041 broad.mit.edu 37 6 31084964 31084966 + In_Frame_Del DEL TTT TTT - rs3130984 byFrequency TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:31084964_31084966delTTT ENST00000376288.2 - 2 452_454 c.426_428delAAA c.(424-429)ggc>gg p.GN142del PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 142 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 AGAGCCGCTGTTTCCCGAGTGAG 0.586 8 244 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000478221.1_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 12 710 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 8 648 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 8 328 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 13 900 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 19 474 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 8 303 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 8 343 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 12 376 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:65150713_65150714insA ENST00000430126.2 + 0 694_695 CATACCATGAGAAAATCTCTAA 0.436 12 127 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 11 404 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 15 584 --- --- --- --- EPHB6 0 broad.mit.edu 37 7 142562309 142562309 + Frame_Shift_Del DEL G G - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr7:142562309delG ENST00000392957.2 + 7 1538 c.751delG c.(751-753)ggfs p.G252fs EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 252 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682 8 655 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. 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) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 8 1414 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 9 1026 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 7 514 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:139809072delT ENST00000303045.6 - 12 2032 c.1586delA c.(1585-1587)agfs p.K529fs COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 529 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCACCCTTTTCCCCTTG 0.463 HNSCC(7;0.00092) 7 1073 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144621235 144621235 + Frame_Shift_Del DEL C C - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr8:144621235delC ENST00000262577.5 - 2 333 c.302delG c.(301-303)gcfs p.G101fs NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 101 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) AGGAGGCTGGCCCCCCCGGGC 0.632 8 482 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 7 229 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 9 549 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 9 284 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 5 9 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 7 250 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr10:63852298delA ENST00000279873.7 + 10 3486 c.3076delA c.(3076-3078)aafs p.K1027fs ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 7 436 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 7 340 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 9 585 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 11 153 --- --- --- --- MRVI1 10335 broad.mit.edu 37 11 10602017 10602017 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:10602017delT ENST00000547195.1 - 19 2707 c.2207delA c.(2206-2208)agfs p.K736fs MRVI1_ENST00000527509.2_Frame_Shift_Del_p.K736fs|MRVI1_ENST00000424001.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000545852.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000421747.1_Frame_Shift_Del_p.K818fs|MRVI1_ENST00000558540.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000436272.1_Frame_Shift_Del_p.K800fs|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Frame_Shift_Del_p.K736fs|MRVI1_ENST00000531107.1_Frame_Shift_Del_p.K819fs|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Frame_Shift_Del_p.K827fs|MRVI1_ENST00000541483.1_Frame_Shift_Del_p.K621fs|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000534266.2_Frame_Shift_Del_p.K512fs NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 800 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCTTGGGCCCTTTTCCTCTTC 0.463 7 1184 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 7 355 --- --- --- --- RARRES3 5920 broad.mit.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:63313709delA ENST00000255688.3 + 4 524 c.476delA c.(475-477)cafs p.Q159fs RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs NM_004585.3 NP_004576.2 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 159 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 AGGAGATACCAAAAAAAAGCG 0.537 8 741 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 11 235 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G rs139987150 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr11:118770651_118770652insG ENST00000334801.3 - 7 4344_4345 c.3380_3381insC c.(3379-3381)cccfs p.P1127fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1127 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCGGTGGTGGTGGGGGGGGCAG 0.703 7 148 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 601 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 8 983 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112605648 112605650 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:112605648_112605650delCAG ENST00000550722.1 - 71 12237_12239 c.11842_11844delCTG c.(11842-11844)del p.L3948del HECTD4_ENST00000377560.5_In_Frame_Del_p.L3922del|HECTD4_ENST00000430131.2_In_Frame_Del_p.L3672del NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGCTGGGGCACAGCAGCAGCAGC 0.640 10 396 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 12 650 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25517701 25517702 + RNA INS - - T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr13:25517701_25517702insT ENST00000429698.1 - 0 374 ACCATTTGCTATTTTTTTTTCT 0.426 8 266 --- --- --- --- NBEA 26960 broad.mit.edu 37 13 35733662 35733663 + Frame_Shift_Ins INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr13:35733662_35733663insA ENST00000540320.1 + 22 3888_3889 c.3354_3355insA c.(3352-3357)ataaaafs p.IK1118fs NBEA_ENST00000400445.3_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000310336.4_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000379939.2_Frame_Shift_Ins_p.IK1118fs Q8NFP9 NBEA_HUMAN neurobeachin 1118 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTGGTATCATTAAAAAAAATGA 0.356 7 119 --- --- --- --- RP11-394A14.2 0 broad.mit.edu 37 13 64407210 64407211 + RNA INS - - TACTGTCAG TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr13:64407210_64407211insTACTGTCAG ENST00000607822.1 - 0 2159 AGACCTTTATATAATTGCCAAA 0.366 12 421 --- --- --- --- NALCN 259232 broad.mit.edu 37 13 101755524 101755524 + Splice_Site DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr13:101755524delA ENST00000251127.6 - 26 3137 c.3057_splice c.e26+1 p.L1019_splice NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1019 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTCACATACCAAAAAAATTTC 0.428 7 560 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 8 386 --- --- --- --- RALGAPA1 253959 broad.mit.edu 37 14 36194270 36194270 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:36194270delT ENST00000258840.6 - 14 2216 c.1826delA c.(1825-1827)atfs p.N609fs RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 609 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAGGTCATATTTTTTTTCCC 0.378 8 614 --- --- --- --- PLEKHG3 26030 broad.mit.edu 37 14 65207900 65207900 + Frame_Shift_Del DEL C C - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:65207900delC ENST00000247226.7 + 14 1805 c.1497delC c.(1495-1497)gafs p.D499fs PLEKHG3_ENST00000484731.2_Frame_Shift_Del_p.D60fs|PLEKHG3_ENST00000471182.2_Frame_Shift_Del_p.D88fs|PLEKHG3_ENST00000394691.1_Frame_Shift_Del_p.D555fs NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 555 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TGGGGATGGACCCCCCAGGTG 0.612 7 805 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 10 294 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 13 316 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691994 106691995 + RNA INS - - AC TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr14:106691994_106691995insAC ENST00000390607.2 - 0 125 ACAGAGAGACATTGGTCAGAAA 0.510 7 645 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 9 717 --- --- --- --- C15orf40 123207 broad.mit.edu 37 15 83674354 83674354 + Frame_Shift_Del DEL T T - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr15:83674354delT ENST00000304177.5 - 4 490 c.376delA c.(376-378)cafs p.T126fs C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Frame_Shift_Del_p.T68fs|C15orf40_ENST00000513601.2_Frame_Shift_Del_p.T153fs|RP11-382A20.5_ENST00000566841.1_RNA NM_001160114.1|NM_144597.2 NP_001153586.1|NP_653198.2 Q8WUR7 CO040_HUMAN chromosome 15 open reading frame 40 126 large_intestine(3)|lung(2)|skin(1) 6 TGCTTTTATGTTTTTTTGGCT 0.488 7 873 --- --- --- --- IQGAP1 8826 broad.mit.edu 37 15 91019925 91019925 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr15:91019925delA ENST00000268182.5 + 24 2939 c.2815delA c.(2815-2817)aafs p.K940fs IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 940 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAAACTTACCAAAAAAAATAA 0.363 9 479 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 7 88 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 15 977 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 7 195 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 5 11 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579471 7579471 + Frame_Shift_Del DEL G G - rs56275308 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:7579471delG ENST00000420246.2 - 4 348 c.216delC c.(214-216)ccfs p.P72fs TP53_ENST00000455263.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P72fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 72 Interaction with HRMT1L2.|Interaction with WWOX. P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522). 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.V73fs*76(11)|p.0?(8)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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) CAGGGGCCACGGGGGGAGCAG 0.602 111 """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) 194 339 --- --- --- --- NSRP1 84081 broad.mit.edu 37 17 28505166 28505167 + Frame_Shift_Ins INS - - A rs143842750 byFrequency TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:28505166_28505167insA ENST00000247026.5 + 4 312_313 c.249_250insA c.(247-252)caaaaafs p.QK83fs NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 83 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 ATGAAATGCAGAAAAAAAAGGA 0.332 7 409 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 7 354 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 7 135 --- --- --- --- SOST 50964 broad.mit.edu 37 17 41832881 41832882 + Frame_Shift_Del DEL GC GC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:41832881_41832882delGC ENST00000301691.2 - 2 516_517 c.470_471delGC c.(469-471)cfs p.R157fs NM_025237.2 NP_079513.1 Q9BQB4 SOST_HUMAN sclerostin 157 CTCK. negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway heparin binding|protein binding large_intestine(2)|lung(3)|prostate(1) 6 Breast(137;0.00725) UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741) GGCGCACCTTGCGCGCGCGCGG 0.713 7 238 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:67125767delA ENST00000284425.2 - 7 1091 c.917delT c.(916-918)tafs p.L306fs NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 306 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TAAGCCATATAAAAAAAAGAG 0.308 7 365 --- --- --- --- CDC42EP4 23580 broad.mit.edu 37 17 71281585 71281587 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr17:71281585_71281587delTCC ENST00000335793.3 - 2 1447_1449 c.1053_1055delGGA c.(1051-1056)gat>ga p.ED351del CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del|CDC42EP4_ENST00000581014.1_3'UTR Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 351 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ACGGATTTCATCCTCCTCCTCCT 0.640 8 535 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 13 1345 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 7 849 --- --- --- --- CCDC97 90324 broad.mit.edu 37 19 41825698 41825700 + In_Frame_Del DEL AGG AGG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:41825698_41825700delAGG ENST00000269967.3 + 3 844_846 c.722_724delAGG c.(721-726)cag>c p.QE241del NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 241 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 CTCCAACagcaggaggaggagga 0.635 7 217 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43428981 43428982 + RNA INS - - G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:43428981_43428982insG ENST00000406070.2 - 0 1340 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) tccagtctacagtggataataa 0.406 9 233 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 13 334 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 8 31 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 7 219 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 7 468 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 12 318 --- --- --- --- C21orf58 54058 broad.mit.edu 37 21 47721985 47721986 + In_Frame_Ins INS - - TGG rs144223236 by1000genomes TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr21:47721985_47721986insTGG ENST00000291691.7 - 8 2032_2033 c.896_897insCCA c.(895-897)cgc>cCCAgc p.299_299R>PS C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000472607.1_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 299 Poly-His. p.H299_A300insH(3) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) GCCACACAGCAtggtggtggtg 0.708 12 7 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 11 225 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 11 138 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 9 28 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 8 434 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 912bafe3-1218-44c3-ba4e-16aeac4f598e c7a38788-c7eb-42b3-a1f2-75d82c600d91 g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 7 150 --- --- --- ---