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 CERS6 253782 broad.mit.edu 37 2 169547576 169547576 + Missense_Mutation SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr2:169547576G>C ENST00000305747.6 + 5 1085 c.498G>C c.(496-498)tgG>tgC p.W166C CERS6_ENST00000392687.4_Missense_Mutation_p.W166C NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 166 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCATTGCTGGTACAACTACC 0.388000 3 96 0 0 6.4e-05 0 0 DOCK11 139818 broad.mit.edu 37 X 117815662 117815662 + Silent SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chrX:117815662T>C ENST00000276204.6 + 51 5942 c.5868T>C c.(5866-5868)aaT>aaC p.N1956N DOCK11_ENST00000276202.7_Silent_p.N1956N Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1956 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TATAGGTCAATGCTGGTCCAT 0.338000 21 106 0 0 0.00278032 0 0 NGFRAP1 27018 broad.mit.edu 37 X 102632596 102632596 + Silent SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chrX:102632596G>C ENST00000361298.4 + 3 512 c.147G>C c.(145-147)ggG>ggC p.G49G NGFRAP1_ENST00000372634.1_Silent_p.G49G|NGFRAP1_ENST00000372645.3_Silent_p.G59G|NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000372635.1_Silent_p.G59G NM_206915.1|NM_206917.1 NP_996798.1|NP_996800.1 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) associated protein 1 59 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding p.G59A(1)|p.G59G(1) NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 TCAATGATGGGATGGGTGGAG 0.502000 10 243 0 0 0.000673444 0 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 4 75 0 0 0.00024832 0 0 ADCY3 109 broad.mit.edu 37 2 25061434 25061434 + Missense_Mutation SNP C C A TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr2:25061434C>A ENST00000260600.5 - 7 2264 c.1413G>T c.(1411-1413)gaG>gaT p.E471D ADCY3_ENST00000405392.1_Missense_Mutation_p.E104D NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 471 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CATCGCCTGGCTCCACATCAA 0.577000 5 149 0.00198382 0.00629349 0.00198382 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 56 0 0 0.00024832 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 62 0 0 0.000602214 0 0 LPAR4 2846 broad.mit.edu 37 X 78010703 78010703 + Missense_Mutation SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chrX:78010703A>G ENST00000435339.2 + 2 742 c.337A>G c.(337-339)Atc>Gtc p.I113V LPAR4_ENST00000373301.2_Missense_Mutation_p.I113V NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 113 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 CCTCTGCAAGATCTCTGGAAC 0.428000 4 148 0 0 0.000602214 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057497 46057497 + Missense_Mutation SNP A A G rs377408 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr21:46057497A>G ENST00000380095.1 + 1 225 c.163A>G c.(163-165)Acg>Gcg p.T55A TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 55 15 X 5 AA repeats of C-C-X(3). keratin filament p.T55A(1) NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CTGCTGCCAGACGGCCTGTGA 0.662000 3 111 0 0 6.4e-05 0 0 CFHR5 81494 broad.mit.edu 37 1 196964999 196964999 + Nonsense_Mutation SNP G G T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr1:196964999G>T ENST00000367414.5 + 5 888 c.832G>T c.(832-834)Gga>Tga p.G278* CFHR5_ENST00000256785.4_Nonsense_Mutation_p.G254* NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 254 Sushi 5. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ATGTGTGGATGGAGAATGGAC 0.308000 4 37 0.000602214 0.0019787 0.000602214 1 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 60 109 0 0 0.00361006 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965206 88965206 + Silent SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr7:88965206A>G ENST00000333190.4 + 4 3519 c.2910A>G c.(2908-2910)tcA>tcG p.S970S NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 970 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGCACCATCAGGCTGTAACA 0.408000 HNSCC(36;0.09) 3 98 0 0 0.00024832 0 0 THOC1 9984 broad.mit.edu 37 18 246403 246403 + Missense_Mutation SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr18:246403T>C ENST00000261600.6 - 11 846 c.839A>G c.(838-840)cAg>cGg p.Q280R THOC1_ENST00000582313.1_5'UTR NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 280 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TCTTGAGGCCTGAGTATCATC 0.269000 3 61 0 0 0.00024832 0 0 WNT5B 81029 broad.mit.edu 37 12 1741882 1741882 + Missense_Mutation SNP G G A rs138238149 byFrequency TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr12:1741882G>A ENST00000397196.2 + 3 371 c.139G>A c.(139-141)Gtg>Atg p.V47M WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M|WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M|WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 47 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) TGCCCAGCCCGTGTGCAGTCA 0.567000 19 120 0 0 0.00121646 0 0 KLHL13 90293 broad.mit.edu 37 X 117053625 117053625 + Silent SNP G G A rs75572880 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chrX:117053625G>A ENST00000371876.1 - 3 2697 c.276C>T c.(274-276)gtC>gtT p.V92V KLHL13_ENST00000545703.1_Silent_p.V101V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000371882.1_Silent_p.V92V|KLHL13_ENST00000262820.3_Silent_p.V143V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000469946.1_Silent_p.V92V Q9P2N7 KLH13_HUMAN kelch-like family member 13 143 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCCTTAGACCGACTTTGCTCA 0.343000 4 78 0 0 0.00116845 0 0 CHEK2P2 0 broad.mit.edu 37 15 20496765 20496765 + RNA SNP G G T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr15:20496765G>T ENST00000555186.1 + 0 818 NR_038836.1 GTTTTTTATAGTGTGTATTTT 0.358000 6 28 4.096e-09 1.44935e-08 0.00116845 1 0 FKRP 79147 broad.mit.edu 37 19 47259967 47259967 + Missense_Mutation SNP C C G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr19:47259967C>G ENST00000318584.5 + 4 1557 c.1260C>G c.(1258-1260)ttC>ttG p.F420L FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 420 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TGTGGCCCTTCTACCCCCGCA 0.627000 2 13 0 0 6.4e-05 0 0 RET 5979 broad.mit.edu 37 10 43607566 43607566 + Silent SNP C C A TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr10:43607566C>A ENST00000355710.3 + 8 1774 c.1542C>A c.(1540-1542)ggC>ggA p.G514G RET_ENST00000340058.5_Silent_p.G514G NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 514 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) AGGAGGCGGGCTGCCCCCTGT 0.662000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 3 6 0.00024832 0.000846127 0.00024832 1 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 4 51 0 0 0.000602214 0 0 CDH7 1005 broad.mit.edu 37 18 63477091 63477091 + Missense_Mutation SNP G G A TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr18:63477091G>A ENST00000536984.2 + 3 1056 c.362G>A c.(361-363)cGa>cAa p.R121Q CDH7_ENST00000397968.2_Missense_Mutation_p.R121Q|CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q Q9ULB5 CADH7_HUMAN cadherin 7, type 2 121 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R121L(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TACACGCTCCGAGCTCAAGCG 0.493000 7 55 0 0 0.00198382 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 40 0 0 6.4e-05 0 0 GTF2F2 2963 broad.mit.edu 37 13 45725876 45725876 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr13:45725876C>T ENST00000340473.6 + 4 355 c.214C>T c.(214-216)Cca>Tca p.P72S NM_004128.2 NP_004119.1 P13984 T2FB_HUMAN general transcription factor IIF, polypeptide 2, 30kDa 72 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction microtubule cytoskeleton|transcription factor TFIIF complex ATP binding|ATP-dependent helicase activity|DNA binding|protein binding breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000647) TGGTGGAAAACCAGCTTCAGT 0.378000 4 82 0 0 0.00024832 0 0 OR4N4 283694 broad.mit.edu 37 15 22383218 22383218 + Missense_Mutation SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr15:22383218T>C ENST00000328795.4 + 1 837 c.746T>C c.(745-747)cTt>cCt p.L249P RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATTATACTTCTTATGTTTGGA 0.468000 4 209 0 0 0.00024832 0 0 SCN9A 6335 broad.mit.edu 37 2 167142878 167142878 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr2:167142878C>T ENST00000303354.6 - 11 1913 c.1573G>A c.(1573-1575)Gca>Aca p.A525T AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.A524T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A525T Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 524 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTTTCATGTGCTCGCCTATGC 0.443000 12 263 0 0 0.000978159 0 0 FKBPL 63943 broad.mit.edu 37 6 32096729 32096729 + Missense_Mutation SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr6:32096729G>C ENST00000375156.3 - 2 1099 c.829C>G c.(829-831)Cgg>Ggg p.R277G NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 277 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCCAACACCCGGTCACAGCTC 0.592000 9 83 0 0 0.000274275 0 0 CERS6 253782 broad.mit.edu 37 2 169547576 169547576 + Missense_Mutation SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr2:169547576G>C ENST00000305747.6 + 5 1085 c.498G>C c.(496-498)tgG>tgC p.W166C CERS6_ENST00000392687.4_Missense_Mutation_p.W166C NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 166 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCATTGCTGGTACAACTACC 0.388000 3 96 0 0 0.004672 0 0 DOCK11 139818 broad.mit.edu 37 X 117815662 117815662 + Silent SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:117815662T>C ENST00000276204.6 + 51 5942 c.5868T>C c.(5866-5868)aaT>aaC p.N1956N DOCK11_ENST00000276202.7_Silent_p.N1956N Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1956 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TATAGGTCAATGCTGGTCCAT 0.338000 21 106 0 0 0.002780 0 0 NGFRAP1 27018 broad.mit.edu 37 X 102632596 102632596 + Silent SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:102632596G>C ENST00000361298.4 + 3 512 c.147G>C c.(145-147)ggG>ggC p.G49G NGFRAP1_ENST00000372635.1_Silent_p.G59G|NGFRAP1_ENST00000372645.3_Silent_p.G59G|NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000372634.1_Silent_p.G49G NM_206915.1|NM_206917.1 NP_996798.1|NP_996800.1 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) associated protein 1 59 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding p.G59A(1)|p.G59G(1) NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 TCAATGATGGGATGGGTGGAG 0.502000 10 243 0 0 0.008291 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 47 0 0 0.001984 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 47 0 0 0.001984 0 0 LPAR4 2846 broad.mit.edu 37 X 78010703 78010703 + Missense_Mutation SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:78010703A>G ENST00000435339.2 + 2 742 c.337A>G c.(337-339)Atc>Gtc p.I113V LPAR4_ENST00000373301.2_Missense_Mutation_p.I113V NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 113 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 CCTCTGCAAGATCTCTGGAAC 0.428000 4 148 0 0 0.000602 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057497 46057497 + Missense_Mutation SNP A A G rs377408 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr21:46057497A>G ENST00000380095.1 + 1 225 c.163A>G c.(163-165)Acg>Gcg p.T55A TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 55 15 X 5 AA repeats of C-C-X(3). keratin filament p.T55A(1) NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CTGCTGCCAGACGGCCTGTGA 0.662000 3 111 0 0 0.004672 0 0 CFHR5 81494 broad.mit.edu 37 1 196964999 196964999 + Nonsense_Mutation SNP G G T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr1:196964999G>T ENST00000367414.5 + 5 888 c.832G>T c.(832-834)Gga>Tga p.G278* CFHR5_ENST00000256785.4_Nonsense_Mutation_p.G254* NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 254 Sushi 5. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ATGTGTGGATGGAGAATGGAC 0.308000 4 37 0.000602214 0.0019572 0.000602 1 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 60 109 0 0 0.003610 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 4 38 0 0 0.000602 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965206 88965206 + Silent SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr7:88965206A>G ENST00000333190.4 + 4 3519 c.2910A>G c.(2908-2910)tcA>tcG p.S970S NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 970 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGCACCATCAGGCTGTAACA 0.408000 HNSCC(36;0.09) 3 98 0 0 0.000248 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 55 0 0 0.000248 0 0 THOC1 9984 broad.mit.edu 37 18 246403 246403 + Missense_Mutation SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr18:246403T>C ENST00000261600.6 - 11 846 c.839A>G c.(838-840)cAg>cGg p.Q280R THOC1_ENST00000582313.1_5'UTR NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 280 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TCTTGAGGCCTGAGTATCATC 0.269000 3 61 0 0 0.000248 0 0 WNT5B 81029 broad.mit.edu 37 12 1741882 1741882 + Missense_Mutation SNP G G A rs138238149 byFrequency TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr12:1741882G>A ENST00000397196.2 + 3 371 c.139G>A c.(139-141)Gtg>Atg p.V47M WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M|WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M|WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 47 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) TGCCCAGCCCGTGTGCAGTCA 0.567000 19 120 0 0 0.008871 0 0 KLHL13 90293 broad.mit.edu 37 X 117053625 117053625 + Silent SNP G G A rs75572880 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:117053625G>A ENST00000371876.1 - 3 2697 c.276C>T c.(274-276)gtC>gtT p.V92V KLHL13_ENST00000371882.1_Silent_p.V92V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000545703.1_Silent_p.V101V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000262820.3_Silent_p.V143V|KLHL13_ENST00000469946.1_Silent_p.V92V Q9P2N7 KLH13_HUMAN kelch-like family member 13 143 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCCTTAGACCGACTTTGCTCA 0.343000 4 78 0 0 0.001168 0 0 FKRP 79147 broad.mit.edu 37 19 47259967 47259967 + Missense_Mutation SNP C C G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr19:47259967C>G ENST00000318584.5 + 4 1557 c.1260C>G c.(1258-1260)ttC>ttG p.F420L FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 420 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TGTGGCCCTTCTACCCCCGCA 0.627000 2 13 0 0 0.004672 0 0 CDH7 1005 broad.mit.edu 37 18 63477091 63477091 + Missense_Mutation SNP G G A TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr18:63477091G>A ENST00000536984.2 + 3 1056 c.362G>A c.(361-363)cGa>cAa p.R121Q CDH7_ENST00000397968.2_Missense_Mutation_p.R121Q|CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q Q9ULB5 CADH7_HUMAN cadherin 7, type 2 121 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R121L(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TACACGCTCCGAGCTCAAGCG 0.493000 7 55 0 0 0.001984 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 53 0 0 0.000248 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 3 57 0 0 0.004672 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 124 0 0 0.004672 0 0 GTF2F2 2963 broad.mit.edu 37 13 45725876 45725876 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr13:45725876C>T ENST00000340473.6 + 4 355 c.214C>T c.(214-216)Cca>Tca p.P72S NM_004128.2 NP_004119.1 P13984 T2FB_HUMAN general transcription factor IIF, polypeptide 2, 30kDa 72 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction microtubule cytoskeleton|transcription factor TFIIF complex ATP binding|ATP-dependent helicase activity|DNA binding|protein binding breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000647) TGGTGGAAAACCAGCTTCAGT 0.378000 4 82 0 0 0.000248 0 0 OR8H2 390151 broad.mit.edu 37 11 55872537 55872537 + Missense_Mutation SNP A A G rs61746549 byFrequency TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr11:55872537A>G ENST00000313503.1 + 1 19 c.19A>G c.(19-21)Aac>Gac p.N7D NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N7D(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TAGAAGGAATAACACAAATGT 0.438000 HNSCC(53;0.14) 4 145 0 0 0.000602 0 0 OR4N4 283694 broad.mit.edu 37 15 22383218 22383218 + Missense_Mutation SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr15:22383218T>C ENST00000328795.4 + 1 837 c.746T>C c.(745-747)cTt>cCt p.L249P RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATTATACTTCTTATGTTTGGA 0.468000 4 209 0 0 0.000248 0 0 SCN9A 6335 broad.mit.edu 37 2 167142878 167142878 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr2:167142878C>T ENST00000375387.4 - 11 1913 c.1573G>A c.(1573-1575)Gca>Aca p.A525T AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.A524T|SCN9A_ENST00000303354.6_Missense_Mutation_p.A525T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 524 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTTTCATGTGCTCGCCTATGC 0.443000 12 263 0 0 0.000978 0 0 FKBPL 63943 broad.mit.edu 37 6 32096729 32096729 + Missense_Mutation SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr6:32096729G>C ENST00000375156.3 - 2 1099 c.829C>G c.(829-831)Cgg>Ggg p.R277G NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 277 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCCAACACCCGGTCACAGCTC 0.592000 9 83 0 0 0.004482 0 0 SPON1 10418 broad.mit.edu 37 11 14284600 14284600 + RNA DEL A A - rs79477301 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr11:14284600delA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA 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) GGACCTGTTTaaaaaaaaaaa 0.463 6 6 --- --- --- --- STT3A 3703 broad.mit.edu 37 11 125482924 125482940 + Frame_Shift_Del DEL TCACCTACACCTTTCAT TCACCTACACCTTTCAT - TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr11:125482924_125482940delTCACCTACACCTTTCAT ENST00000392708.4 + 13 1565_1581 c.1406_1422delTCACCTACACCTTTCAT c.(1405-1422)afs p.ITYTFH469fs STT3A_ENST00000531491.1_Frame_Shift_Del_p.ITYTFH377fs|STT3A_ENST00000529196.1_Frame_Shift_Del_p.ITYTFH469fs NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 469 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TTCTTTCTCATCACCTACACCTTTCATTCAACCTGGG 0.442 8 239 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90160897 90160898 + RNA INS - - GCG TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr16:90160897_90160898insGCG ENST00000564451.1 + 0 848_849 TUBB8P7_ENST00000567960.1_RNA CTCCTGGGAACGCGGCCCTCCC 0.728 7 29 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343771 15343771 + RNA DEL A A - TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr21:15343771delA ENST00000344693.5 - 0 736 NR_027270.1 TTTGCCTTGCAAACAACCCTC 0.418 2 4 --- --- --- --- STT3A 3703 broad.mit.edu 37 11 125482924 125482940 + Frame_Shift_Del DEL TCACCTACACCTTTCAT TCACCTACACCTTTCAT - TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr11:125482924_125482940delTCACCTACACCTTTCAT ENST00000392708.4 + 13 1565_1581 c.1406_1422delTCACCTACACCTTTCAT c.(1405-1422)afs p.ITYTFH469fs STT3A_ENST00000531491.1_Frame_Shift_Del_p.ITYTFH377fs|STT3A_ENST00000529196.1_Frame_Shift_Del_p.ITYTFH469fs NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 469 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TTCTTTCTCATCACCTACACCTTTCATTCAACCTGGG 0.442 8 239 --- --- --- --- CTB-52I2.8 0 broad.mit.edu 37 19 18092362 18092362 + RNA DEL A A - rs71164338 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr19:18092362delA ENST00000601725.1 + 0 133 actccatctcaaaaaaaaaaa 0.522 2 4 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343771 15343771 + RNA DEL A A - TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr21:15343771delA ENST00000344693.5 - 0 736 NR_027270.1 TTTGCCTTGCAAACAACCCTC 0.418 2 4 --- --- --- --- MGC20647 0 broad.mit.edu 37 22 30642618 30642618 + Frame_Shift_Del DEL G G - TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr22:30642618delG ENST00000593843.1 + 2 434 c.434delG c.(433-435)ccfs p.R145fs LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron AGTTGCCGCCGCGCCCCGCAG 0.711 2 4 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 8 29 --- --- --- ---