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 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 7 181 0 0 1 0 0 HIST1H4C 8364 broad.mit.edu 37 6 26104424 26104424 + Silent SNP A A T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr6:26104424A>T ENST00000377803.2 + 1 321 c.249A>T c.(247-249)acA>acT p.T83T NM_003542.3 NP_003533.1 P62805 H4_HUMAN histone cluster 1, H4c 83 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 AAACTGTCACAGCCATGGATG 0.483000 17 63 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr17:7578272G>A ENST00000420246.2 - 6 709 c.577C>T c.(577-579)Cat>Tat p.H193Y TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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) CGGATAAGATGCTGAGGAGGG 0.557000 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) 16 22 0 0 1 0 0 FAM173B 134145 broad.mit.edu 37 5 10227588 10227588 + Missense_Mutation SNP T T G TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr5:10227588T>G ENST00000280330.8 - 6 781 c.175A>C c.(175-177)Aca>Cca p.T59P FAM173B_ENST00000511437.1_Missense_Mutation_p.T223P|FAM173B_ENST00000510047.1_Missense_Mutation_p.T206P Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 223 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 TGCATCGATGTACAGGGCCTC 0.478000 8 53 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834840 27834840 + Silent SNP C C A rs139479440 byFrequency TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr6:27834840C>A ENST00000331442.3 - 1 519 c.468G>T c.(466-468)ccG>ccT p.P156P NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 156 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TCGCCTTCTTCGGAGTCTTCT 0.602000 31 189 1.08312e-15 1.20574e-15 1 1 0 ASNS 440 broad.mit.edu 37 7 97488687 97488687 + Missense_Mutation SNP C C T rs149193118 TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr7:97488687C>T ENST00000175506.4 - 6 1039 c.511G>A c.(511-513)Gcg>Acg p.A171T ASNS_ENST00000455086.1_Missense_Mutation_p.A88T|ASNS_ENST00000394308.3_Missense_Mutation_p.A171T|ASNS_ENST00000437628.1_Missense_Mutation_p.A88T|ASNS_ENST00000444334.1_Missense_Mutation_p.A150T|ASNS_ENST00000422745.1_Missense_Mutation_p.A150T|ASNS_ENST00000394309.3_Missense_Mutation_p.A171T NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 171 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AAGGGAGTCGCGGAGTGCTTC 0.368000 13 36 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2032 2032 + RNA SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrM:2032G>A ENST00000387347.2 + 0 362 NR_039705.1 TTGTCCAAGATAGAATCTTAG 0.423000 105 42 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55524043 55524043 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr12:55524043G>A ENST00000305377.5 + 1 579 c.491G>A c.(490-492)cGt>cAt p.R164H NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 ATGTCCACACGTCTGTGTACT 0.468000 34 108 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129453154 129453154 + Silent SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr9:129453154C>T ENST00000355497.5 + 3 373 c.366C>T c.(364-366)atC>atT p.I122I LMX1B_ENST00000373474.4_Silent_p.I122I|LMX1B_ENST00000526117.1_Silent_p.I122I|LMX1B_ENST00000561065.1_Silent_p.I99I|LMX1B_ENST00000425646.2_Silent_p.I99I NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 99 LIM zinc-binding 2. dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 TGGAGAAGATCGCCCCCACCG 0.647000 Nail-Patella Syndrome 15 24 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_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) 7 9 0.00198382 0.00205343 1 1 0 ATP13A2 23400 broad.mit.edu 37 1 17320326 17320326 + Missense_Mutation SNP C C A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr1:17320326C>A ENST00000452699.1 - 16 1721 c.1532G>T c.(1531-1533)gGc>gTc p.G511V RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G511V|ATP13A2_ENST00000326735.8_Missense_Mutation_p.G516V NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 516 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGTGAGGGTGCCCGTCTGTGG 0.692000 3 9 0.004672 0.00475255 1 1 0 ABCA3 21 broad.mit.edu 37 16 2331468 2331468 + Missense_Mutation SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr16:2331468C>T ENST00000301732.5 - 27 4778 c.4078G>A c.(4078-4080)Gat>Aat p.D1360N ABCA3_ENST00000382381.3_Missense_Mutation_p.D1302N NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1360 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TCCGCTACATCTTGGTCCTCA 0.582000 10 98 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45003662 45003662 + Missense_Mutation SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr7:45003662C>T ENST00000258787.7 - 20 2867 c.2731G>A c.(2731-2733)Gtg>Atg p.V911M NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 911 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity p.V911L(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TCAAGGGGCACGGCCCGCATC 0.642000 3 11 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137717785 137717785 + Missense_Mutation SNP T T A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrX:137717785T>A ENST00000315930.6 - 4 1095 c.434A>T c.(433-435)gAa>gTa p.E145V FGF13_ENST00000541469.1_Missense_Mutation_p.E99V|FGF13_ENST00000441825.2_Missense_Mutation_p.E126V|FGF13_ENST00000370603.3_Missense_Mutation_p.E155V|FGF13_ENST00000305414.4_Missense_Mutation_p.E92V NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 145 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) AAACACTGATTCTTTGAATTT 0.373000 14 35 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 12441 12441 + Silent SNP T T C TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrM:12441T>C ENST00000361567.2 + 1 105 c.105T>C c.(103-105)taT>taC p.Y35Y P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 35 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TACCCCCATTATGTAAAATCC 0.423000 21 150 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44976102 44976102 + Missense_Mutation SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr14:44976102C>T ENST00000340446.4 - 1 380 c.89G>A c.(88-90)cGt>cAt p.R30H NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 30 cilium p.R30H(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) ATTACCAATACGATGGGTAGC 0.428000 22 115 0 0 1 0 0 DERL1 79139 broad.mit.edu 37 8 124037229 124037229 + Silent SNP G G T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr8:124037229G>T ENST00000259512.4 - 3 627 c.327C>A c.(325-327)atC>atA p.I109I DERL1_ENST00000405944.3_Silent_p.I109I|DERL1_ENST00000523036.1_Silent_p.I9I|DERL1_ENST00000419562.2_Intron|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Silent_p.I9I NM_001134671.1|NM_024295.4 NP_001128143.1|NP_077271.1 Q9BUN8 DERL1_HUMAN derlin 1 109 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGGATACCACGATGCAAATCC 0.383000 5 30 0.000602214 0.000634476 1 1 0 RPTN 126638 broad.mit.edu 37 1 152128023 152128023 + Missense_Mutation SNP C C A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr1:152128023C>A ENST00000316073.3 - 3 1616 c.1552G>T c.(1552-1554)Ggc>Tgc p.G518C NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 518 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 AAACTCTGGCCTTGTCTGTCT 0.498000 379 665 1.76114e-179 2.0374e-179 1 1 0 ZNF585A 199704 broad.mit.edu 37 19 37643369 37643369 + Silent SNP G G T rs143272721 byFrequency TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr19:37643369G>T ENST00000356958.4 - 5 1690 c.1432C>A c.(1432-1434)Cgg>Agg p.R478R ZNF585A_ENST00000292841.5_Silent_p.R423R|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.R423R Q6P3V2 Z585A_HUMAN zinc finger protein 585A 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGATTTGACCGGTTGGTGAAT 0.403000 15 104 9.16793e-09 1.00168e-08 1 1 0 SLC6A3 6531 broad.mit.edu 37 5 1420693 1420693 + Silent SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr5:1420693G>A ENST00000270349.9 - 6 1045 c.918C>T c.(916-918)tgC>tgT p.C306C SLC6A3_ENST00000453492.2_Silent_p.C306C NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 306 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CAGACGCCTCGCAGAGCCGGT 0.592000 58 109 0 0 1 0 0 SAV1 60485 broad.mit.edu 37 14 51101951 51101951 + Nonsense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr14:51101951G>A ENST00000324679.4 - 5 1465 c.1102C>T c.(1102-1104)Cga>Tga p.R368* NM_021818.3 NP_068590.1 Q9H4B6 SAV1_HUMAN salvador homolog 1 (Drosophila) 368 SARAH. hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) CTCTGCTTTCGGTTTTCCAAC 0.343000 23 34 0 0 1 0 0 PJA1 64219 broad.mit.edu 37 X 68382933 68382933 + Missense_Mutation SNP G G A rs147196192 TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrX:68382933G>A ENST00000361478.1 - 2 526 c.149C>T c.(148-150)aCg>aTg p.T50M PJA1_ENST00000374571.4_De_novo_Start_InFrame|PJA1_ENST00000374583.1_Missense_Mutation_p.T50M|PJA1_ENST00000374584.3_Missense_Mutation_p.T50M|PJA1_ENST00000477231.1_5'UTR NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 50 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 TTCGGAGTTCGTCTTTCTCTG 0.537000 41 116 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91455346 91455346 + Missense_Mutation SNP G G A rs146996561 TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr15:91455346G>A ENST00000360468.3 + 14 2201 c.2183G>A c.(2182-2184)cGc>cAc p.R728H MAN2A2_ENST00000559717.1_Missense_Mutation_p.R728H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R236H NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 728 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GATGGGCACCGCACGCTGCCC 0.667000 56 58 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117067469 117067469 + Missense_Mutation SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr7:117067469C>T ENST00000284629.2 - 1 108 c.46G>A c.(46-48)Gag>Aag p.E16K NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 16 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity p.E16K(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCGCTACTCTCGCCTCCGCCA 0.667000 OREG0003439 type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 79 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50474960 50474960 + RNA SNP C C G TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr19:50474960C>G ENST00000602139.1 + 0 1035 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.A337G(1)|p.A299G(1) endometrium(2)|kidney(2)|lung(6) 10 GTTTCCCAAGCAAACAGGACA 0.597000 8 137 0 0 1 0 0 NCBP1 4686 broad.mit.edu 37 9 100403882 100403882 + Silent SNP T T A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr9:100403882T>A ENST00000375147.3 + 3 418 c.162T>A c.(160-162)gcT>gcA p.A54A NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 54 MIF4G. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) AAGGCTTGGCTGGTGTTTTGG 0.373000 33 69 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29687566 29687566 + Missense_Mutation SNP C C G rs144178015 TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr17:29687566C>G ENST00000358273.4 + 57 8605 c.8222C>G c.(8221-8223)aCg>aGg p.T2741R NF1_ENST00000356175.3_Missense_Mutation_p.T2720R|NF1_ENST00000444181.2_Missense_Mutation_p.T534R|NF1_ENST00000417592.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2741 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTGATTGACACGTACCTGCCT 0.418000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 15 143 0 0 1 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14600 14600 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrM:14600G>A ENST00000361681.2 - 1 73 c.74C>T c.(73-75)cCt>cTt p.P25L mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 CCCCATAAATAGGAGAAGGCT 0.393000 28 81 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 7664 7664 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrM:7664G>A ENST00000361739.1 + 1 79 c.79G>A c.(79-81)Gcc>Acc p.A27T mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 TTCATGATCACGCCCTCATAA 0.413000 28 120 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109694600 109694600 + Silent SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr9:109694600C>T ENST00000457913.1 + 5 6355 c.6066C>T c.(6064-6066)gaC>gaT p.D2022D ZNF462_ENST00000277225.5_Intron|ZNF462_ENST00000441147.2_Silent_p.D868D|ZNF462_ENST00000497489.1_3'UTR NM_021224.4 NP_067047.4 Q96JM2 ZN462_HUMAN zinc finger protein 462 2011 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAGCCAAAGACGCCAGTGGCG 0.557000 4 6 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184019846 184019846 + Missense_Mutation SNP C C G TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr3:184019846C>G ENST00000310118.4 + 5 1249 c.691C>G c.(691-693)Ctt>Gtt p.L231V EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L101V|PSMD2_ENST00000435761.1_Missense_Mutation_p.L72V NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 231 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) AAAGGTCTGCCTTTATCTCAC 0.507000 33 54 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57114545 57114545 + Missense_Mutation SNP A A C TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr12:57114545A>C ENST00000454682.1 - 3 1050 c.769T>G c.(769-771)Tct>Gct p.S257A NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S257A|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_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 p.S257P(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TTTTGTGGAGAAATCAGAACT 0.512000 T BCL6 NHL 63 55 0 0 1 0 0 G3BP2 9908 broad.mit.edu 37 4 76571563 76571563 + Missense_Mutation SNP A A G TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr4:76571563A>G ENST00000359707.4 - 11 1920 c.1135T>C c.(1135-1137)Ttt>Ctt p.F379L G3BP2_ENST00000395719.3_Missense_Mutation_p.F379L|G3BP2_ENST00000357854.3_Missense_Mutation_p.F346L NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 379 RRM. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GAGTCATCAAAAACCACAAAA 0.328000 19 137 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 4113 4113 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrM:4113G>A ENST00000361390.2 + 1 807 c.807G>A c.(805-807)ctG>ctA p.269_269insL mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 CTAACCTCCCTGTTCTTATGA 0.443000 30 117 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23292319 23292319 + Silent SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr10:23292319C>T ENST00000298032.5 + 13 1791 c.1707C>T c.(1705-1707)aaC>aaT p.N569N ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409983.3_Silent_p.N569N NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 569 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACATAATTAACGATGGATTCT 0.323000 19 95 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21757423 21757423 + Silent SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr7:21757423G>A ENST00000328843.6 + 44 7066 c.7035G>A c.(7033-7035)cgG>cgA p.R2345R DNAH11_ENST00000409508.3_Silent_p.R2338R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2345 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACAGAAGGCGGCATCAATCAG 0.378000 Kartagener syndrome 9 45 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511815 195511815 + Silent SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr3:195511815G>A ENST00000463781.3 - 2 7095 c.6636C>T c.(6634-6636)acC>acT p.T2212T MUC4_ENST00000475231.1_Silent_p.T2212T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1001 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T2212T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGGGCTGGTGACAGGAA 0.602000 3 11 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511911 195511911 + Silent SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr3:195511911G>A ENST00000463781.3 - 2 6999 c.6540C>T c.(6538-6540)acC>acT p.T2180T MUC4_ENST00000475231.1_Silent_p.T2180T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 959 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T2180T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.587000 3 6 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81197274 81197274 + RNA SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr16:81197274G>A ENST00000525539.1 - 0 3407 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGAGGCCACCGACAGTCCCGC 0.532000 5 12 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56492632 56492632 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr12:56492632G>A ENST00000267101.3 + 23 3222 c.2782G>A c.(2782-2784)Gag>Aag p.E928K ERBB3_ENST00000549832.1_Missense_Mutation_p.E48K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E285K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E869K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E169K NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 928 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGAGAAGGGGGAGCGGTTGGC 0.512000 49 138 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2108 2108 + RNA SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrM:2108G>A ENST00000387347.2 + 0 438 NR_039705.1 TAGTCCAAAGAGGAACAGCTC 0.388000 107 30 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr12:56478854G>A ENST00000267101.3 + 3 750 c.310G>A c.(310-312)Gtg>Atg p.V104M ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 104 V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V104M(7)|p.V104L(2) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAACCTCCGCGTGGTGCGAGG 0.517000 75 161 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29343055 29343055 + Missense_Mutation SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr6:29343055C>T ENST00000396806.3 - 1 13 c.10G>A c.(10-12)Gtc>Atc p.V4I OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 ATTGTAGTGACATTCTCCATT 0.328000 16 34 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738843 176738843 + Missense_Mutation SNP C C A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr1:176738843C>A ENST00000367662.3 + 16 5588 c.4424C>A c.(4423-4425)gCa>gAa p.A1475E NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1475 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTGAACTATGCAAACTTCTCC 0.517000 38 73 2.05212e-20 2.32837e-20 1 1 0 KLHDC7A 127707 broad.mit.edu 37 1 18809452 18809452 + Silent SNP C C T TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr1:18809452C>T ENST00000400664.1 + 1 2029 c.1977C>T c.(1975-1977)gcC>gcT p.A659A NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 659 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCTGGTGGGCCGGCCCCACCG 0.682000 18 21 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103499131 103499131 + Silent SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chrX:103499131G>A ENST00000372588.4 - 2 293 c.210C>T c.(208-210)gaC>gaT p.D70D NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 70 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D70D(1) endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GGTCTTGGTCGTCCGAGGGGA 0.652000 6 244 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216299 111216299 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr1:111216299G>A ENST00000369769.2 - 1 1356 c.1133C>T c.(1132-1134)tCg>tTg p.S378L NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 378 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAGTGGCGCGACAGCTTGAA 0.592000 68 144 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197184313 197184313 + Missense_Mutation SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr2:197184313G>A ENST00000260983.2 - 9 1483 c.1301C>T c.(1300-1302)gCg>gTg p.A434V HECW2_ENST00000409111.1_Missense_Mutation_p.A78V NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 434 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGAGCAGGTCGCTGTCCCCGG 0.502000 26 65 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812318 2812318 + Missense_Mutation SNP A A G TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr16:2812318A>G ENST00000301740.8 + 11 2338 c.1789A>G c.(1789-1791)Aga>Gga p.R597G NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 597 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ATCACGATCCAGAACTCCCAC 0.617000 23 57 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30293184 30293184 + Silent SNP G G A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr17:30293184G>A ENST00000322652.5 + 5 703 c.474G>A c.(472-474)caG>caA p.Q158Q SUZ12_ENST00000580398.1_Silent_p.Q135Q NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 158 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) CTCATTTGCAGCTTACGTTTA 0.269000 T JAZF1 endometrial stromal tumours 3 11 0 0 1 0 0 TTC34 100287898 broad.mit.edu 37 1 2576888 2576888 + Frame_Shift_Del DEL G G - TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr1:2576888delG ENST00000401094.6 - 5 638 c.211delC c.(211-213)acfs p.H71fs TTC34_ENST00000401095.3_Frame_Shift_Del_p.H268fs A8MYJ7 TTC34_HUMAN tetratricopeptide repeat domain 34 268 binding GCCCGGCAGTGGGAGTAGAGG 0.652 2 4 --- --- --- --- OR1C1 26188 broad.mit.edu 37 1 247921040 247921042 + In_Frame_Del DEL GGA GGA - TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr1:247921040_247921042delGGA ENST00000408896.2 - 1 940_942 c.667_669delTCC c.(667-669)del p.S223del NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCAGAACAGTGGAGAAGATAAGT 0.493 53 52 --- --- --- --- AC012487.2 0 broad.mit.edu 37 2 109140460 109140460 + RNA DEL C C - rs61036212 TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr2:109140460delC ENST00000440975.1 - 0 250 AC012487.2_ENST00000322353.3_RNA gacagcccggccccacaccct 0.433 6 0 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708854 180708854 + RNA DEL A A - rs60396213 TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr5:180708854delA ENST00000412295.2 + 0 238 GAGCGGTAGGAGGGGGGCTGG 0.692 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29593423 29593424 + RNA DEL AT AT - TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr20:29593423_29593424delAT ENST00000432067.1 - 0 74 ACAAATAGAAATAGAGAGATGG 0.351 4 8 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11089518 11089519 + RNA INS - - A TCGA-NF-A4WU-01A-11D-A28R-08 TCGA-NF-A4WU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6090017-f654-44df-a9f1-de8cebd17800 70bbf359-1999-4ac8-9cda-79d8abdebad0 g.chr21:11089518_11089519insA 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) gactctgtctcaaaaaaacaga 0.480 2 4 --- --- --- ---