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 SH3TC1 54436 broad.mit.edu 37 4 8221109 8221109 + Missense_Mutation SNP G G A rs141127247 TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr4:8221109G>A ENST00000539824.1 + 9 1110 c.736G>A c.(736-738)Gaa>Aaa p.E246K SH3TC1_ENST00000245105.3_Missense_Mutation_p.E322K Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 322 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CTCGGGGCCCGAAGAGATGAC 0.677000 18 98 0 0 0.557998 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 163530 163530 + Missense_Mutation SNP A A C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr5:163530A>C ENST00000283426.6 + 11 2325 c.2275A>C c.(2275-2277)Agc>Cgc p.S759R NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 759 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GGAGGTAACCAGCACTGTAGC 0.622000 44 82 0 0 0.853193 0 0 PHYHIPL 84457 broad.mit.edu 37 10 60994191 60994191 + Silent SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr10:60994191T>C ENST00000373880.4 + 2 498 c.234T>C c.(232-234)gaT>gaC p.D78D PHYHIPL_ENST00000373878.3_Silent_p.D52D NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 78 Fibronectin type-III. NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 AATCAAAGGATCGCATTACAC 0.323000 31 49 0 0 0.729181 0 0 FRAS1 80144 broad.mit.edu 37 4 79334179 79334179 + Silent SNP G G A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr4:79334179G>A ENST00000264895.6 + 32 4805 c.4365G>A c.(4363-4365)gcG>gcA p.A1455A FRAS1_ENST00000325942.6_Silent_p.A1455A NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1454 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCAACATCGCGATCTTACCAC 0.512000 15 26 0 0 0.500413 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25160963 25160963 + Missense_Mutation SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr10:25160963T>C ENST00000320152.6 - 4 397 c.369A>G c.(367-369)atA>atG p.I123M PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 123 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 CGCCTCCGATTATCTGCATCT 0.448000 18 244 0 0 0.575678 0 0 DQX1 165545 broad.mit.edu 37 2 74750442 74750442 + Silent SNP G G T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr2:74750442G>T ENST00000404568.3 - 5 1258 c.1039C>A c.(1039-1041)Cga>Aga p.R347R DQX1_ENST00000393951.2_Silent_p.R347R NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 347 Helicase C-terminal. nucleus ATP binding|helicase activity|nucleic acid binding p.R229R(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 CTCACACTTCGGAGCTCCAGT 0.547000 4 216 0.150653 0.167871 0.150653 1 0 NLRX1 79671 broad.mit.edu 37 11 119043649 119043649 + Silent SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr11:119043649T>C ENST00000409109.1 + 4 767 c.180T>C c.(178-180)gcT>gcC p.A60A NLRX1_ENST00000292199.2_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000525863.1_Silent_p.A60A Q86UT6 NLRX1_HUMAN NLR family member X1 60 innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TAGATAGCGCTCCCCCACCCG 0.632000 3 84 0 0 0.115264 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809360 18809360 + Missense_Mutation SNP G G A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:18809360G>A ENST00000400664.1 + 1 1937 c.1885G>A c.(1885-1887)Gcc>Acc p.A629T NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 629 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) GGCGCACACGGCCACGGTGCG 0.692000 11 25 0 0 0.361761 0 0 AGPAT6 137964 broad.mit.edu 37 8 41456786 41456786 + Missense_Mutation SNP G G A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr8:41456786G>A ENST00000396987.3 + 2 1055 c.128G>A c.(127-129)cGc>cAc p.R43H NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 43 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity p.R43H(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) TTTGGTATCCGCAAACTCTAC 0.433000 4 110 0 0 0.150653 0 0 BRD1 23774 broad.mit.edu 37 22 50167946 50167946 + Missense_Mutation SNP G G A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr22:50167946G>A ENST00000216267.8 - 12 3598 c.3112C>T c.(3112-3114)Cgc>Tgc p.R1038C BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000542442.1_Missense_Mutation_p.R726C|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 1038 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTCATGGCGCGGTCAAAAGCG 0.577000 4 196 0 0 0.150653 0 0 BAI3 577 broad.mit.edu 37 6 69348840 69348840 + Missense_Mutation SNP T T A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr6:69348840T>A ENST00000370598.1 + 3 1094 c.273T>A c.(271-273)gaT>gaA p.D91E NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 91 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATCAGTTTGATCATTTTTCCC 0.338000 22 53 0 0 0.639603 0 0 RP11-445N18.7 0 broad.mit.edu 37 10 45644356 45644356 + RNA SNP T T G TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr10:45644356T>G ENST00000427229.2 + 0 527 GAGTTTCGAGTGGGTGAGTTC 0.353000 10 19 0 0 0.361761 0 0 BTBD11 121551 broad.mit.edu 37 12 108012040 108012040 + Silent SNP G G A rs150221761 byFrequency TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr12:108012040G>A ENST00000280758.5 + 10 2865 c.2337G>A c.(2335-2337)ccG>ccA p.P779P BTBD11_ENST00000490090.2_Silent_p.P779P|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Silent_p.P316P NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 779 integral to membrane DNA binding p.C783fs*22(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AGACAGCCCCGCCCCCCTTGT 0.612000 4 32 0 0 0.184627 0 0 ITLN1 55600 broad.mit.edu 37 1 160849127 160849127 + Missense_Mutation SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:160849127T>C ENST00000326245.3 - 7 878 c.763A>G c.(763-765)Agg>Ggg p.R255G ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 255 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCGGTGACCCTCATTCCAGCA 0.502000 3 129 0 0 0.150653 0 0 CPOX 1371 broad.mit.edu 37 3 98312096 98312096 + Missense_Mutation SNP A A C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:98312096A>C ENST00000264193.2 - 1 471 c.253T>G c.(253-255)Ttg>Gtg p.L85V NM_000097.5 NP_000088.3 P36551 HEM6_HUMAN coproporphyrinogen oxidase 85 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity p.L85V(1) endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 AGCCCCACCAACCCCGCCAGC 0.761000 6 10 0 0 0.278610 0 0 RBFOX1 54715 broad.mit.edu 37 16 7759095 7759095 + Missense_Mutation SNP G G A rs150941982 byFrequency TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr16:7759095G>A ENST00000340209.4 + 12 1345 c.1048G>A c.(1048-1050)Gca>Aca p.A350T RBFOX1_ENST00000422070.4_Missense_Mutation_p.A388T|RBFOX1_ENST00000355637.4_Silent_p.T383T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A366T|RBFOX1_ENST00000535565.2_Silent_p.T319T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A366T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A318T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A345T|RBFOX1_ENST00000552089.1_Silent_p.T379T|RBFOX1_ENST00000547372.1_Silent_p.T405T|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A345T Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 345 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CTACCACCACGCACTTGCTCC 0.502000 44 82 0 0 0.870114 0 0 CDH23 64072 broad.mit.edu 37 10 73491778 73491778 + Silent SNP G G A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr10:73491778G>A ENST00000224721.6 + 31 3770 c.3765G>A c.(3763-3765)tcG>tcA p.S1255S C10orf105_ENST00000398786.2_Intron NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1250 Cadherin 12. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCATCCTGTCGGGCGCAGAGG 0.552000 4 28 0 0 0.150653 0 0 APBA2 321 broad.mit.edu 37 15 29346408 29346408 + Silent SNP C C T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr15:29346408C>T ENST00000558402.1 + 5 920 c.321C>T c.(319-321)gaC>gaT p.D107D APBA2_ENST00000561069.1_Silent_p.D107D|APBA2_ENST00000558330.1_Silent_p.D107D|APBA2_ENST00000411764.1_Silent_p.D107D|APBA2_ENST00000558259.1_Silent_p.D107D Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 107 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GCCCTGAGGACGACAGCTACC 0.602000 5 154 0 0 0.184627 0 0 MFSD5 84975 broad.mit.edu 37 12 53646693 53646693 + Missense_Mutation SNP G G C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr12:53646693G>C ENST00000534842.1 + 2 542 c.395G>C c.(394-396)cGg>cCg p.R132P MFSD5_ENST00000329548.4_Missense_Mutation_p.R25P NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 25 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 TCAAGATGCCGGGCTAAACCC 0.597000 25 120 0 0 0.639603 0 0 ABCC3 8714 broad.mit.edu 37 17 48761112 48761112 + Missense_Mutation SNP G G C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr17:48761112G>C ENST00000285238.8 + 27 4029 c.3949G>C c.(3949-3951)Gag>Cag p.E1317Q NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1317 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GCACGGTGGCGAGAAGGTACG 0.622000 37 94 0 0 0.804634 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066709 9066709 + Missense_Mutation SNP G G A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr5:9066709G>A ENST00000382496.5 - 17 2788 c.2123C>T c.(2122-2124)aCg>aTg p.T708M NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 708 TSP type-1 4. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TGTCCAGGGCGTGGTCTTCTT 0.552000 35 88 0 0 0.788014 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 3 41 0 0 0.115264 0 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 7 41 0 0 0.278610 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128321994 128321994 + Missense_Mutation SNP T T G TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr9:128321994T>G ENST00000265960.3 - 6 1098 c.766A>C c.(766-768)Aag>Cag p.K256Q MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 256 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 AAGCCAAACTTATGAATGGGC 0.473000 19 60 0 0 0.557998 0 0 MYLK 4638 broad.mit.edu 37 3 123419029 123419029 + Missense_Mutation SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:123419029T>C ENST00000360772.3 - 19 3664 c.3286A>G c.(3286-3288)Aca>Gca p.T1096A MYLK_ENST00000475616.1_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A Q15746 MYLK_HUMAN myosin light chain kinase 1096 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCTGGGGCTGTCCCCTGGCTC 0.517000 3 143 0 0 0.115264 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 4 43 0 0 0.361761 0 0 PVRL1 5818 broad.mit.edu 37 11 119548471 119548471 + Missense_Mutation SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr11:119548471T>C ENST00000264025.3 - 3 1057 c.527A>G c.(526-528)aAt>aGt p.N176S PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 176 Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) AGGCTTCCCATTGGCTGAGGT 0.577000 20 21 0 0 0.624587 0 0 CHL1 10752 broad.mit.edu 37 3 439982 439982 + Missense_Mutation SNP G G T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:439982G>T ENST00000256509.2 + 25 3809 c.3167G>T c.(3166-3168)gGa>gTa p.G1056V CHL1_ENST00000397491.2_Missense_Mutation_p.G1040V NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 1040 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTTGAGCCGGGAGCTGAACAT 0.383000 6 63 0.0215528 0.0247223 0.217242 1 0 PSMA2 5683 broad.mit.edu 37 7 42957400 42957400 + Missense_Mutation SNP G G C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr7:42957400G>C ENST00000442788.1 - 7 580 c.565C>G c.(565-567)Cat>Gat p.H189D PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D|PSMA2_ENST00000223321.4_Missense_Mutation_p.H189D P25787 PSA2_HUMAN proteasome (prosome, macropain) subunit, alpha type, 2 189 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|response to virus|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2) 10 ATGGCTGTATGAATGGCATCT 0.279000 10 36 0 0 0.479597 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 57 0 0 0.184627 0 0 RYR3 6263 broad.mit.edu 37 15 33938650 33938650 + Silent SNP C C T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr15:33938650C>T ENST00000389232.4 + 29 3934 c.3864C>T c.(3862-3864)tgC>tgT p.C1288C RYR3_ENST00000415757.3_Silent_p.C1288C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1288 4 X approximate repeats.|B30.2/SPRY 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGATCTATTGCCGCTTGAGCA 0.537000 4 175 0 0 0.150653 0 0 PIWIL3 440822 broad.mit.edu 37 22 25155922 25155922 + Missense_Mutation SNP C C T rs138064276 TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr22:25155922C>T ENST00000332271.5 - 3 553 c.137G>A c.(136-138)cGg>cAg p.R46Q PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 46 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTGCAGCGGCCGGGGTGTCGA 0.547000 116 250 0 0 0.870114 0 0 PFKFB1 5207 broad.mit.edu 37 X 54989709 54989709 + Nonsense_Mutation SNP C C T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chrX:54989709C>T ENST00000375006.3 - 2 274 c.204G>A c.(202-204)tgG>tgA p.W68* PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68* NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 68 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 GTGTTCCTATCCAGTTGAGAT 0.453000 58 51 0 0 0.870114 0 0 DOCK7 85440 broad.mit.edu 37 1 63099200 63099216 + Frame_Shift_Del DEL TATGGTTCTGCACACTC TATGGTTCTGCACACTC - TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:63099200_63099216delTATGGTTCTGCACACTC ENST00000251157.5 - 10 1102_1118 c.1069_1085delGAGTGTGCAGAACCATA c.(1069-1086)tfs p.ECAEPY357fs DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000340370.5_Frame_Shift_Del_p.ECAEPY357fs NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 357 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GAAAATCATATATGGTTCTGCACACTCTCCAATGTCT 0.364 13 186 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 9 71 --- --- --- --- C1orf95 375057 broad.mit.edu 37 1 226736634 226736636 + In_Frame_Del DEL CGG CGG - TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:226736634_226736636delCGG ENST00000366788.3 + 1 134_136 c.29_31delCGG c.(28-33)acg>a p.TA10del C1orf95_ENST00000366789.4_In_Frame_Del_p.TA10del NM_001003665.3 NP_001003665.1 Q69YW2 CA095_HUMAN chromosome 1 open reading frame 95 10 integral to membrane large_intestine(1)|lung(4)|ovary(3) 8 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) GACGCCGAGAcggcggcggcggc 0.783 4 6 --- --- --- --- ETAA1 54465 broad.mit.edu 37 2 67631946 67631946 + Frame_Shift_Del DEL A A - TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr2:67631946delA ENST00000272342.5 + 5 2262 c.2132delA c.(2131-2133)cafs p.Q711fs ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 711 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 AATAGCTCACAAATAGATAAG 0.348 16 86 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98110515 98110515 + RNA DEL A A - TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:98110515delA ENST00000508616.1 + 0 188 GAGGCAGTTTACAAGGCCACT 0.279 8 24 --- --- --- --- RYK 6259 broad.mit.edu 37 3 133896849 133896850 + Frame_Shift_Del DEL AT AT - TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:133896849_133896850delAT ENST00000427044.2 - 12 1283_1284 c.673_674delAT c.(673-675)gfs p.M225fs RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs P34925 RYK_HUMAN receptor-like tyrosine kinase 411 corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 CCCCCAATTCATGTAAGGCAAT 0.337 13 32 --- --- --- ---