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 PTENP1 0 broad.mit.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr9:33675379C>A ENST00000532280.1 - 0 2118 NR_023917.1 AAAAAGGTCCCTTTTCAGTTT 0.318000 5 230 1.23904e-05 1.36947e-05 1 1 0 OR2G6 391211 broad.mit.edu 37 1 248685682 248685682 + Silent SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:248685682G>A ENST00000343414.4 + 1 767 c.735G>A c.(733-735)ctG>ctA p.L245L NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGTCTCACCTGGTTGTGGTCA 0.438000 12 614 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108717235 108717235 + Silent SNP T T C TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr5:108717235T>C ENST00000361189.2 - 3 440 c.201A>G c.(199-201)gaA>gaG p.E67E PJA2_ENST00000361557.3_Silent_p.E67E|PJA2_ENST00000511624.1_5'UTR NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 67 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) CATCATCTAGTTCCAACACTT 0.323000 9 294 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 4 129 0.150653 0.155593 1 1 0 SFMBT1 51460 broad.mit.edu 37 3 52940182 52940182 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr3:52940182G>A ENST00000394752.3 - 20 2789 c.2407C>T c.(2407-2409)Cgg>Tgg p.R803W SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 803 SAM. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTGATGAACCGCACAACGTCT 0.418000 5 375 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 5 406 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140531966 140531966 + Missense_Mutation SNP C C T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr5:140531966C>T ENST00000231136.1 + 1 2128 c.2128C>T c.(2128-2130)Cgg>Tgg p.R710W PCDHB6_ENST00000543635.1_Missense_Mutation_p.R574W NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 710 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTGGCGGTGCGGCTGTGCAG 0.677000 8 947 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21051256 21051256 + Missense_Mutation SNP G G A rs141534193 byFrequency TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr16:21051256G>A ENST00000261383.3 - 33 4647 c.4648C>T c.(4648-4650)Cgg>Tgg p.R1550W DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1550 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R1550W(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCCACTGTCCGGAACAAGGCC 0.483000 7 326 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85942713 85942713 + Missense_Mutation SNP C C T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr16:85942713C>T ENST00000268638.5 + 3 714 c.292C>T c.(292-294)Cgg>Tgg p.R98W IRF8_ENST00000563180.1_Missense_Mutation_p.R98W NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 98 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) AGTGACGGACCGGTCCCAACT 0.458000 6 306 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807121 20807121 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr19:20807121G>A ENST00000601440.1 - 4 1708 c.1562C>T c.(1561-1563)cCt>cTt p.P521L CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TAAGGTGTGAGGACCGCTTGA 0.378000 6 404 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57484420 57484420 + Missense_Mutation SNP C C T rs11554273 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr20:57484420C>T ENST00000371100.4 + 8 3082 c.2530C>T c.(2530-2532)Cgt>Tgt p.R844C GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 201 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201C(228)|p.R844C(9)|p.R201S(5) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCTTCGCTGCCGTGTCCTGAC 0.428000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 5 305 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907820 12907820 + Missense_Mutation SNP G G T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:12907820G>T ENST00000317869.6 - 2 548 c.323C>A c.(322-324)tCt>tAt p.S108Y NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 CAAGTCAAAAGAGGAGCCGTA 0.493000 10 535 0.335167 0.340573 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V 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) 5 306 0.000602214 0.000654129 1 1 0 IPCEF1 26034 broad.mit.edu 37 6 154489200 154489200 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:154489200G>A ENST00000265198.4 - 11 1111 c.956C>T c.(955-957)tCa>tTa p.S319L IPCEF1_ENST00000519344.1_Missense_Mutation_p.S291L|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S320L|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S320L NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 TTGCTCTAATGATTTGTACAG 0.358000 17 1366 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494521 55494521 + Silent SNP C C T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr19:55494521C>T ENST00000543010.1 + 6 1598 c.1455C>T c.(1453-1455)gaC>gaT p.D485D NLRP2_ENST00000339757.7_Silent_p.D463D|NLRP2_ENST00000538819.1_Silent_p.D461D|NLRP2_ENST00000427260.2_Silent_p.D462D|NLRP2_ENST00000263437.6_Silent_p.D482D|NLRP2_ENST00000537859.1_Silent_p.D463D|NLRP2_ENST00000391721.4_Silent_p.D461D|NLRP2_ENST00000448584.2_Silent_p.D485D NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 485 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGTTCCTGGACGGAGACATCC 0.617000 5 274 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31712990 31712990 + Silent SNP C C T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr13:31712990C>T ENST00000320027.5 - 16 2480 c.2136G>A c.(2134-2136)cgG>cgA p.R712R HSPH1_ENST00000429785.2_Silent_p.R531R|HSPH1_ENST00000445273.2_Silent_p.R714R|HSPH1_ENST00000380405.4_Silent_p.R668R|HSPH1_ENST00000380406.5_Silent_p.R671R NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 712 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) ACATTTTTGGCCGTTCTTCAG 0.343000 7 640 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606551 84606551 + Missense_Mutation SNP T T C TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr9:84606551T>C ENST00000344803.2 + 4 1213 c.1166T>C c.(1165-1167)tTt>tCt p.F389S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCTGAGGCCTTTTTAGGGGGG 0.473000 7 224 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(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) ACTGGACGCAGGcagcagcag 0.657000 5 63 0 0 1 0 0 DNAJB1 3337 broad.mit.edu 37 19 14627503 14627503 + Silent SNP C C T rs146528791 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr19:14627503C>T ENST00000254322.2 - 2 637 c.567G>A c.(565-567)cgG>cgA p.R189R DNAJB1_ENST00000396969.4_Silent_p.R89R NM_006145.1 NP_006136.1 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 189 chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(1328;0.0476) CGGGGTTTAGCCGCTTGTGGG 0.493000 7 778 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27278809 27278809 + Silent SNP C C T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:27278809C>T ENST00000320567.5 - 2 151 c.63G>A c.(61-63)cgG>cgA p.R21R NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 21 Pro-rich. NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GCTCTGTTGGCCGCTCCCACG 0.647000 5 279 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 5 373 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154130395 154130395 + Missense_Mutation SNP G G A rs137852453 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chrX:154130395G>A ENST00000360256.4 - 19 6246 c.6046C>T c.(6046-6048)Cgg>Tgg p.R2016W NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2016 F5/8 type A 3.|Plastocyanin-like 6. R -> P (in HEMA; severe familial).|R -> W (in HEMA; severe/moderate/mild). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATTCCACCCGCCAAATTCCA 0.418000 7 425 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47891156 47891156 + Silent SNP T T C TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr3:47891156T>C ENST00000446256.2 + 22 3683 c.3111T>C c.(3109-3111)taT>taC p.Y1037Y DHX30_ENST00000457607.1_Silent_p.Y1104Y|DHX30_ENST00000445061.1_Silent_p.Y1076Y|DHX30_ENST00000348968.4_Silent_p.Y1048Y NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 1076 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GGCTGACGTATTTCATGGCAG 0.627000 13 283 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36046466 36046466 + Missense_Mutation SNP C C T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr19:36046466C>T ENST00000262623.3 - 14 2061 c.2033G>A c.(2032-2034)gGc>gAc p.G678D NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 678 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CAGCTGCATGCCATTGATCAC 0.652000 4 206 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80845046 80845046 + Silent SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr15:80845046G>A ENST00000533983.1 + 11 1326 c.987G>A c.(985-987)cgG>cgA p.R329R ARNT2_ENST00000527771.1_Silent_p.R329R|ARNT2_ENST00000303329.4_Silent_p.R340R Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 340 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TCTTATCCCGGCATAACTCCG 0.483000 5 378 0 0 1 0 0 SEPT3 55964 broad.mit.edu 37 22 42388741 42388741 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr22:42388741G>A ENST00000396425.3 + 8 970 c.839G>A c.(838-840)cGa>cAa p.R280Q SEPT3_ENST00000291236.11_Missense_Mutation_p.R216Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.R216Q|SEPT3_ENST00000396426.3_Missense_Mutation_p.R280Q NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 280 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GTCCTCGGCCGAAAAACTCCA 0.488000 3 62 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62130655 62130655 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr17:62130655G>A ENST00000433197.2 - 16 2125 c.2030C>T c.(2029-2031)gCc>gTc p.A677V NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 677 Protein kinase. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GTGGAGGTGGGCCAGGCCCGA 0.612000 4 174 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10523050 10523050 + Silent SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:10523050G>A ENST00000444303.2 + 11 1750 c.1278G>A c.(1276-1278)ccG>ccA p.P426P AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.P594P NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 585 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TGTTCCGGCCGCACTGTGGGG 0.632000 4 172 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:153907303C>T ENST00000361217.4 - 18 3124 c.2706G>A c.(2704-2706)caG>caA p.Q902Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.642000 6 248 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32706462 32706462 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr2:32706462G>A ENST00000421745.2 + 38 7617 c.7483G>A c.(7483-7485)Gac>Aac p.D2495N NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2495 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AATGGAAGTTGACATTGATCC 0.383000 5 266 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79387352 79387352 + Silent SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:79387352G>A ENST00000370742.3 - 9 1266 c.1203C>T c.(1201-1203)tgC>tgT p.C401C NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 401 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GATTACAGCGGCATGAGGTGT 0.413000 5 412 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190592627 190592627 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr2:190592627G>A ENST00000520309.1 + 13 2769 c.2681G>A c.(2680-2682)cGt>cAt p.R894H ANKAR_ENST00000438402.2_Missense_Mutation_p.R894H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R823H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R894H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R669H NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 894 integral to membrane binding p.R823H(1) breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GAGGTTGGGCGTGACAATAAG 0.373000 7 336 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116356341 116356341 + Missense_Mutation SNP C C A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr9:116356341C>A ENST00000462403.1 + 1 576 c.142C>A c.(142-144)Ctc>Atc p.L48I RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 0 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TCCGCTCCCCCTCCTGGTCCC 0.622000 18 823 6.49762e-13 7.44273e-13 1 1 0 KCNK5 8645 broad.mit.edu 37 6 39162508 39162508 + Silent SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:39162508G>A ENST00000359534.3 - 3 665 c.327C>T c.(325-327)ccC>ccT p.P109P NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 109 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GGCGACCGGCGGGGGTCTTGG 0.592000 8 368 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100057076 100057076 + Missense_Mutation SNP C C A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:100057076C>A ENST00000369214.1 + 3 581 c.320C>A c.(319-321)gCa>gAa p.A107E PRDM13_ENST00000369215.4_Missense_Mutation_p.A97E NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 97 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) TTCTACCGAGCATTGCGAGAC 0.507000 4 115 1 1 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 5 194 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca 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 4 160 0 0 1 0 0 HNRNPF 3185 broad.mit.edu 37 10 43883011 43883011 + Missense_Mutation SNP C C T TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr10:43883011C>T ENST00000443950.2 - 3 808 c.322G>A c.(322-324)Gcc>Acc p.A108T HNRNPF_ENST00000357065.4_Missense_Mutation_p.A108T|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A108T|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A108T|HNRNPF_ENST00000544000.1_Missense_Mutation_p.A108T NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 108 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 CCATCGTTGGCGCTGTCGGCA 0.522000 6 473 0 0 1 0 0 DHRS7 51635 broad.mit.edu 37 14 60620745 60620745 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr14:60620745G>A ENST00000216500.5 - 4 780 c.325C>T c.(325-327)Ccc>Tcc p.P109S DHRS7_ENST00000536410.2_Missense_Mutation_p.P59S|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.P109S Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 109 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) AGGTCAAGGGGCAAAACAAGT 0.398000 5 293 0 0 1 0 0 RAMP3 10268 broad.mit.edu 37 7 45222927 45222927 + Silent SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr7:45222927G>A ENST00000242249.4 + 3 401 c.363G>A c.(361-363)ccG>ccA p.P121P RAMP3_ENST00000496212.1_Silent_p.P121P|RAMP3_ENST00000481345.1_Silent_p.P121P NM_005856.2 NP_005847.1 O60896 RAMP3_HUMAN receptor (G protein-coupled) activity modifying protein 3 121 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) TTCTCATCCCGCTGATCGTTA 0.622000 11 636 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37978568 37978568 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr8:37978568G>A ENST00000343823.6 + 10 1375 c.1066G>A c.(1066-1068)Gag>Aag p.E356K ASH2L_ENST00000521652.1_Missense_Mutation_p.E262K|ASH2L_ENST00000428278.2_Missense_Mutation_p.E262K|ASH2L_ENST00000545394.1_Missense_Mutation_p.E217K|ASH2L_ENST00000250635.7_Missense_Mutation_p.E262K NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 356 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CCCTGACCCCGAGAAGCTGGA 0.532000 OREG0018719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 428 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46807563 46807563 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr22:46807563G>A ENST00000262738.3 - 6 4704 c.4705C>T c.(4705-4707)Cgc>Tgc p.R1569C NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1569 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TTTCCAAAGCGCACAGCCATG 0.617000 5 309 0 0 1 0 0 PDCL3 79031 broad.mit.edu 37 2 101188240 101188240 + Missense_Mutation SNP G G A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr2:101188240G>A ENST00000264254.6 + 5 935 c.557G>A c.(556-558)gGc>gAc p.G186D NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 186 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 GTGTTTGGCGGCATGAACCTG 0.498000 6 630 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 10 564 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52991403 52991403 + Frame_Shift_Del DEL T T - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:52991403delT ENST00000371544.3 - 2 812 c.550delA c.(550-552)ttfs p.I184fs ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 184 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GAGCTTGGAATTTTTTTTCCA 0.408 7 1193 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:54298190_54298192delTTA ENST00000371429.3 - 3 849_851 c.251_253delTAA c.(250-255)agt>a p.IS84del NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTGAAAATACTTATTATTATTAT 0.305 8 205 --- --- --- --- KIAA1324 57535 broad.mit.edu 37 1 109727724 109727725 + Frame_Shift_Del DEL AC AC - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:109727724_109727725delAC ENST00000369939.3 + 8 1193_1194 c.1010_1011delAC c.(1009-1011)tfs p.Y337fs KIAA1324_ENST00000529753.1_Intron NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 337 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.T340fs*21(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GATTATTTCTACACACACACGG 0.490 7 756 --- --- --- --- PMF1 11243 broad.mit.edu 37 1 156182850 156182850 + Frame_Shift_Del DEL A A - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:156182850delA ENST00000368277.3 + 1 53 c.44delA c.(43-45)gafs p.E15fs PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.E15fs|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000368279.3_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368273.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000565805.1_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.E15fs NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) GGCTGTGAGGAAAAAAGGCAT 0.572 7 344 --- --- --- --- ZC3H11A 9877 broad.mit.edu 37 1 203819140 203819140 + Frame_Shift_Del DEL A A - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr1:203819140delA ENST00000545588.1 + 14 5752 c.1925delA c.(1924-1926)gafs p.E642fs ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 642 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CAGACCTTGGAAAAAAGGGGT 0.418 7 409 --- --- --- --- RQCD1 9125 broad.mit.edu 37 2 219447753 219447754 + In_Frame_Ins INS - - ATT TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr2:219447753_219447754insATT ENST00000273064.6 + 3 639_640 c.264_265insATT c.(262-267)aagagt>aaATTgagt p.88_89KS>KLS RQCD1_ENST00000509807.2_In_Frame_Ins_p.88_89KS>KLS|RQCD1_ENST00000295701.5_In_Frame_Ins_p.88_89KS>KLS|RQCD1_ENST00000542068.1_In_Frame_Ins_p.88_89KS>KLS NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 88 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.N88K(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCAGTCTAACAGAGTTTGCAA 0.391 22 561 --- --- --- --- NGEF 25791 broad.mit.edu 37 2 233785144 233785146 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr2:233785144_233785146delCTC ENST00000264051.3 - 5 954_956 c.676_678delGAG c.(676-678)del p.E226del NGEF_ENST00000373552.4_In_Frame_Del_p.E134del|NGEF_ENST00000409079.1_In_Frame_Del_p.E134del NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 226 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGCTGGCCGGctcctcctcctcc 0.586 7 301 --- --- --- --- WHSC1 7468 broad.mit.edu 37 4 1980558 1980559 + Frame_Shift_Ins INS - - C TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr4:1980558_1980559insC ENST00000382895.3 + 24 4451_4452 c.4020_4021insC c.(4018-4023)aaccccfs p.NP1340fs WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.NP688fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.NP1340fs NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1340 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AGACTGAGAAGCCCCCCCCAGA 0.678 T IGH@ MM 7 165 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 8 352 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 8 592 --- --- --- --- LRBA 987 broad.mit.edu 37 4 151223826 151223827 + Frame_Shift_Ins INS - - A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr4:151223826_151223827insA ENST00000535741.1 - 53 8440_8441 c.7967_7968insT c.(7966-7968)tctfs p.S2656fs LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Frame_Shift_Ins_p.S2656fs|LRBA_ENST00000357115.3_Frame_Shift_Ins_p.S2667fs P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2667 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AATACCACAGCAAAAGAGTTGC 0.416 10 542 --- --- --- --- AFF4 27125 broad.mit.edu 37 5 132232616 132232616 + Frame_Shift_Del DEL T T - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr5:132232616delT ENST00000265343.5 - 11 2085 c.1706delA c.(1705-1707)agfs p.K569fs AFF4_ENST00000378595.3_Frame_Shift_Del_p.K569fs NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 569 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) CTTCTCAGCCTTTTTGGGTTG 0.507 7 560 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 13 442 --- --- --- --- AK9 221264 broad.mit.edu 37 6 109980432 109980434 + Splice_Site DEL TCT TCT - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:109980432_109980434delTCT ENST00000424296.2 - 7 703_705 c.630_splice c.e7+1 p.EE209_splice AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Splice_Site_p.EE209_splice|AK9_ENST00000368948.2_Splice_Site_p.EE209_splice NM_001145128.2 NP_001138600.2 adenylate kinase 9 AGATATTACCtcttcttcttctt 0.350 8 518 --- --- --- --- IFNGR1 3459 broad.mit.edu 37 6 137519505 137519506 + Frame_Shift_Del DEL CT CT - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:137519505_137519506delCT ENST00000367739.4 - 7 1253_1254 c.1132_1133delAG c.(1132-1134)tfs p.S380fs IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 380 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) AGGTGAAGAACTCTCTCTCTCT 0.431 8 517 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755219 146755221 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:146755219_146755221delGAG ENST00000361719.2 + 9 3342_3344 c.2872_2874delGAG c.(2872-2874)del p.E961del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 961 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTACAACGTAGAGGAGGAGGAGG 0.586 7 826 --- --- --- --- SCAF8 22828 broad.mit.edu 37 6 155153620 155153620 + Frame_Shift_Del DEL T T - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:155153620delT ENST00000367178.3 + 20 3483 c.2907delT c.(2905-2907)ccfs p.P969fs SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 969 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CCCGTGGACCTTTTCCTCCAG 0.473 9 1016 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168317900 168317900 + Frame_Shift_Del DEL T T - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr6:168317900delT ENST00000366806.2 + 19 2818 c.2676delT c.(2674-2676)ccfs p.P892fs MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 892 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGATGAGCCTTTTATCCCAA 0.398 T MLL AL 7 791 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705665 24705666 + Frame_Shift_Ins INS - - A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr7:24705665_24705666insA ENST00000396475.2 + 9 1208_1209 c.909_910insA c.(907-912)agaaaafs p.RK303fs MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 303 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 CTATAAGTAGCAAAAAAAAGAA 0.302 7 840 --- --- --- --- RP11-555J4.4 0 broad.mit.edu 37 9 32635706 32635706 + RNA DEL T T - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr9:32635706delT ENST00000430787.1 + 0 1602 CCCGCAAAACttttttttttt 0.542 2 4 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 8 90 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron 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 9 240 --- --- --- --- DDX50 79009 broad.mit.edu 37 10 70666692 70666693 + Frame_Shift_Ins INS - - A TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr10:70666692_70666693insA ENST00000373585.3 + 2 420_421 c.313_314insA c.(313-315)aaafs p.K105fs NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 105 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 AGATGAATATGAAAAAAAATCA 0.307 7 767 --- --- --- --- TMEM254 80195 broad.mit.edu 37 10 81841638 81841639 + Frame_Shift_Ins INS - - G TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr10:81841638_81841639insG ENST00000372281.3 + 2 159_160 c.129_130insG c.(127-132)ctggccfs p.A44fs TMEM254_ENST00000372274.1_Frame_Shift_Ins_p.A44fs|TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372275.1_Frame_Shift_Ins_p.A44fs|TMEM254_ENST00000372277.3_Frame_Shift_Ins_p.A44fs NM_001270372.1|NM_025125.3 NP_001257301.1|NP_079401.2 transmembrane protein 254 ATCAGAACCTTGGGCCCCTGGG 0.505 8 696 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88764064 88764064 + RNA DEL T T - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr10:88764064delT ENST00000444431.1 + 0 2623 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TTGTTATGAATTTTTTTTCCT 0.378 7 826 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 18 450 --- --- --- --- RAB11FIP2 22841 broad.mit.edu 37 10 119798647 119798647 + Frame_Shift_Del DEL T T - rs35192242 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr10:119798647delT ENST00000355624.3 - 3 1540 c.1101delA c.(1099-1101)aafs p.K367fs RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.K367fs NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 367 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) TTCTGCTATCTTTTTTTCCAG 0.343 7 861 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651116 1651127 + In_Frame_Del DEL GGCCGTGGCTCC GGCCGTGGCTCC - rs66665994 by1000genomes TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:1651116_1651127delGGCCGTGGCTCC ENST00000399676.2 + 1 84_95 c.46_57delGGCCGTGGCTCC c.(46-57)del p.GRGS16del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 16 keratin filament p.R17C(2)|p.R17L(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) cggctgtggaggccgtggctccggctgtgggg 0.693 12 754 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14101781 14101782 + RNA INS - - T rs72219431 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:14101781_14101782insT ENST00000310358.7 + 0 1211 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TAttttttttcttttttttttt 0.441 3 6 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 14 251 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60703785 60703787 + In_Frame_Del DEL GGA GGA - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:60703785_60703787delGGA ENST00000005286.4 + 11 2634_2636 c.2481_2483delGGA c.(2479-2484)agg>ag p.RE827del TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 826 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCGAAGCCAGggaggaggaggag 0.635 7 422 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000356000.3_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 9 319 --- --- --- --- PPFIA1 8500 broad.mit.edu 37 11 70194407 70194407 + Frame_Shift_Del DEL C C - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:70194407delC ENST00000253925.7 + 16 2259 c.2044delC c.(2044-2046)ccfs p.P683fs PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.P683fs|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 683 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GAGCTCCATTCCCCCCTACCC 0.557 7 1182 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 11 627 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr11:119210189_119210190insC ENST00000445041.2 - 15 3378_3379 c.583_584insG c.(583-585)catfs p.H195fs C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 147 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CCTCACCATGGCCCCCCCCGAG 0.589 7 326 --- --- --- --- VPS29 51699 broad.mit.edu 37 12 110930880 110930881 + Frame_Shift_Del DEL TG TG - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr12:110930880_110930881delTG ENST00000549578.1 - 3 416_417 c.351_352delCA c.(349-354)caaafs p.HK117fs VPS29_ENST00000546588.1_Frame_Shift_Del_p.HK149fs|VPS29_ENST00000447578.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000549970.1_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000552130.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000360579.7_Frame_Shift_Del_p.HK121fs NM_016226.3 NP_057310.1 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 homolog (S. cerevisiae) 117 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 GCTTCAAATTTGTGTGTGTGTC 0.421 8 374 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113707611 113707613 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr12:113707611_113707613delCTG ENST00000550785.1 + 8 1094_1096 c.925_927delCTG c.(925-927)del p.L312del TPCN1_ENST00000541517.1_In_Frame_Del_p.L312del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L240del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L172del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 240 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.L237L(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGACATCCTCCTGCTGCTGCTGT 0.601 7 545 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73574574 73574576 + In_Frame_Del DEL ATG ATG - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr14:73574574_73574576delATG ENST00000261973.7 + 13 1793_1795 c.1508_1510delATG c.(1507-1512)tat>t p.YD503del RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_In_Frame_Del_p.YD503del NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 503 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TTAGAAGACTATGATGATGATAG 0.330 8 1265 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141032 66141032 + RNA DEL C C - rs76883902 by1000genomes TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr17:66141032delC ENST00000590019.1 - 0 70 AAAAAAAAAACATAAGCCAAA 0.338 10 373 --- --- --- --- RP11-757O6.1 0 broad.mit.edu 37 18 14249254 14249254 + RNA DEL A A - rs71176025 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr18:14249254delA ENST00000580200.1 + 0 217 GTTTAAACACAATTAGAATTA 0.303 4 5 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 9 987 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 7 891 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15441192 15441193 + RNA INS - - T rs148464975 TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr21:15441192_15441193insT ENST00000428809.1 + 0 177 TGTATTTTGAATTCTTGGAATT 0.361 7 525 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29cf030b-07b7-46ad-afb0-d7bde31ef55c 299dc91a-7da5-4537-adb8-646b7b5b75ca g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 9 30 --- --- --- ---