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 KRT72 140807 broad.mit.edu 37 12 52981595 52981595 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr12:52981595C>T ENST00000293745.2 - 7 1215 c.1130G>A c.(1129-1131)cGg>cAg p.R377Q KRT72_ENST00000354310.4_Missense_Mutation_p.R335Q|KRT72_ENST00000398066.3_Missense_Mutation_p.R189Q|KRT72_ENST00000537672.2_Missense_Mutation_p.R377Q NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 377 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) GCAGTCCCCCCGCTGTTCAGC 0.627000 4 40 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42941093 42941093 + Missense_Mutation SNP T T C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr17:42941093T>C ENST00000426333.2 - 15 1640 c.1343A>G c.(1342-1344)aAg>aGg p.K448R EFTUD2_ENST00000592576.1_Missense_Mutation_p.K438R|EFTUD2_ENST00000591382.1_Missense_Mutation_p.K448R|EFTUD2_ENST00000402521.3_Missense_Mutation_p.K413R NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 448 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) GTGCTCAATCTTGGGCTTGGC 0.557000 7 59 0 0 1 0 0 SYDE2 84144 broad.mit.edu 37 1 85648608 85648608 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr1:85648608C>T ENST00000341460.5 - 3 1766 c.1717G>A c.(1717-1719)Gat>Aat p.D573N NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 573 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) GGCAGAATATCAGTATGATGA 0.418000 38 74 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068392 5068392 + Missense_Mutation SNP G G C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr11:5068392G>C ENST00000380370.1 + 1 637 c.637G>C c.(637-639)Gtg>Ctg p.V213L NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTGAACCTGGTGCTCATTGG 0.458000 4 114 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439449 150439449 + Silent SNP C C T rs142964864 TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr7:150439449C>T ENST00000358647.3 + 3 589 c.222C>T c.(220-222)aaC>aaT p.N74N GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAACATGGAACGGGAGGAAAG 0.572000 5 48 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37947800 37947800 + Missense_Mutation SNP G G C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr17:37947800G>C ENST00000346872.3 - 5 522 c.461C>G c.(460-462)tCt>tGt p.S154C IKZF3_ENST00000439167.2_Missense_Mutation_p.S120C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.S67C|IKZF3_ENST00000351680.3_Missense_Mutation_p.S154C|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.S154C|IKZF3_ENST00000346243.3_Missense_Mutation_p.S154C|IKZF3_ENST00000535189.1_Missense_Mutation_p.S120C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000377944.3_Intron NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 154 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTGAGTAAAAGATGCCCCACA 0.433000 4 106 0 0 1 0 0 CDC42EP3 10602 broad.mit.edu 37 2 37873475 37873475 + Missense_Mutation SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr2:37873475G>A ENST00000295324.3 - 2 1256 c.256C>T c.(256-258)Cgg>Tgg p.R86W AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 86 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) CTGTTGGCCCGGAAGAACTCA 0.527000 3 69 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201185718 201185718 + Silent SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr1:201185718C>T ENST00000335211.4 + 16 9562 c.9432C>T c.(9430-9432)ggC>ggT p.G3144G IGFN1_ENST00000295591.8_Silent_p.G304G NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGCAGGCTGGCAGGAGCACTT 0.657000 5 19 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130766835 130766835 + Silent SNP G G T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr5:130766835G>T ENST00000509018.1 - 26 4387 c.4182C>A c.(4180-4182)acC>acA p.T1394T RAPGEF6_ENST00000307984.5_Silent_p.T1407T|RAPGEF6_ENST00000296859.6_Silent_p.T1402T|RAPGEF6_ENST00000507093.1_Silent_p.T1402T|FNIP1_ENST00000514667.1_Silent_p.T1444T NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1394 Ser-rich. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CATCCAAATGGGTATGTCTGT 0.468000 7 63 8.12818e-05 8.7632e-05 1 1 0 TOB2 10766 broad.mit.edu 37 22 41832694 41832694 + Missense_Mutation SNP A A C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr22:41832694A>C ENST00000327492.3 - 2 1362 c.656T>G c.(655-657)aTg>aGg p.M219R NM_016272.3 NP_057356.1 Q14106 TOB2_HUMAN transducer of ERBB2, 2 219 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 TGAGCGGGCCATGCGAGGCTG 0.627000 3 13 0 0 1 0 0 ZMYM5 9205 broad.mit.edu 37 13 20398825 20398825 + Missense_Mutation SNP T T C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr13:20398825T>C ENST00000337963.4 - 8 2066 c.1802A>G c.(1801-1803)aAt>aGt p.N601S NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 601 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) tttcagttgattttttccttc 0.333000 3 13 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6697481 6697481 + Silent SNP G G A rs137956083 TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr19:6697481G>A ENST00000245907.6 - 21 2762 c.2670C>T c.(2668-2670)ccC>ccT p.P890P NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 890 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ACGAGGACTTGGGGGGGATGG 0.572000 7 36 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70420250 70420250 + Splice_Site SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr14:70420250G>A ENST00000381280.4 + 3 631 c.e3+1 SMOC1_ENST00000361956.3_Splice_Site NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CTTTACCCAGGTGAGGCCTCG 0.617000 22 25 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33623274 33623274 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr19:33623274C>T ENST00000361680.2 + 1 277 c.199C>T c.(199-201)Cca>Tca p.P67S WDR88_ENST00000592765.1_Missense_Mutation_p.P67S|WDR88_ENST00000355868.3_Missense_Mutation_p.P67S Q6ZMY6 WDR88_HUMAN WD repeat domain 88 67 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) GGACAGGGAACCACCACCGCA 0.652000 9 74 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259951 40259951 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr15:40259951C>T ENST00000263791.5 + 9 1467 c.1424C>T c.(1423-1425)aCg>aTg p.T475M EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T475M|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.T475M NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 475 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTTATAAAACGGGGAAGAAA 0.493000 23 48 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076312 57076312 + Silent SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr11:57076312G>A ENST00000532437.1 - 5 4184 c.3873C>T c.(3871-3873)gcC>gcT p.A1291A TNKS1BP1_ENST00000358252.3_Silent_p.A1291A Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1291 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTGCCCCTGGGGCCATGTTTC 0.587000 34 69 0 0 1 0 0 SURF6 6838 broad.mit.edu 37 9 136198945 136198945 + Silent SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr9:136198945G>A ENST00000372022.4 - 5 1111 c.846C>T c.(844-846)atC>atT p.I282I SURF6_ENST00000468290.1_5'UTR NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 282 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) CGTCGTCACGGATCTTCACGC 0.687000 8 61 0 0 1 0 0 MMP9 4318 broad.mit.edu 37 20 44641091 44641091 + Silent SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr20:44641091G>A ENST00000372330.3 + 8 1219 c.1200G>A c.(1198-1200)gcG>gcA p.A400A NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 400 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TCGTGGCGGCGCATGAGTTCG 0.652000 3 64 0 0 1 0 0 QRFPR 84109 broad.mit.edu 37 4 122250475 122250475 + Silent SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr4:122250475C>T ENST00000394427.2 - 6 1701 c.1290G>A c.(1288-1290)ggG>ggA p.G430G QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 430 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 ATAATTAATGCCCACTGTCTA 0.343000 13 36 0 0 1 0 0 ELMOD1 55531 broad.mit.edu 37 11 107535808 107535808 + Missense_Mutation SNP T T A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr11:107535808T>A ENST00000265840.7 + 12 1155 c.890T>A c.(889-891)aTg>aAg p.M297K ELMOD1_ENST00000531234.1_Missense_Mutation_p.M291K|ELMOD1_ENST00000443271.2_Missense_Mutation_p.M289K NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 297 ELMO. phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) ATGGACATAATGGAATTTAAT 0.433000 17 93 0 0 1 0 0 FAM86HP 0 broad.mit.edu 37 3 129821754 129821754 + RNA SNP C C A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr3:129821754C>A ENST00000500074.2 - 0 391 CAATACAGCACGTCTACGGTG 0.587000 3 44 0.00198382 0.00204304 1 1 0 SLC27A1 376497 broad.mit.edu 37 19 17608156 17608156 + Silent SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr19:17608156G>A ENST00000252595.7 + 7 1186 c.1089G>A c.(1087-1089)ggG>ggA p.G363G SLC27A1_ENST00000442725.1_Silent_p.G363G|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Silent_p.G184G NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 363 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGGCGGTGGGGAACGGGCTGC 0.667000 15 14 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37581078 37581078 + Missense_Mutation SNP A A G TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr20:37581078A>G ENST00000217429.4 + 4 1804 c.1763A>G c.(1762-1764)aAc>aGc p.N588S NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 558 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) TTTACTGAAAACCACCTTGGC 0.458000 26 35 0 0 1 0 0 HARS 3035 broad.mit.edu 37 5 140054664 140054664 + Missense_Mutation SNP G G C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr5:140054664G>C ENST00000504366.1 - 10 2861 c.1042C>G c.(1042-1044)Cag>Gag p.Q348E HARS_ENST00000431330.2_Missense_Mutation_p.Q303E|HARS_ENST00000457527.2_Missense_Mutation_p.Q397E|HARS_ENST00000438307.2_Missense_Mutation_p.Q377E|HARS_ENST00000448240.1_Missense_Mutation_p.Q222E|HARS_ENST00000307633.3_Missense_Mutation_p.Q357E|HARS_ENST00000504156.1_Missense_Mutation_p.Q417E|HARS_ENST00000415192.2_Missense_Mutation_p.Q343E P12081 SYHC_HUMAN histidyl-tRNA synthetase 417 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) AGCTTCTTCTGTGCAGATGCC 0.537000 22 27 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 4 56 0.00909568 0.00922944 1 1 0 BMP15 9210 broad.mit.edu 37 X 50653913 50653913 + Missense_Mutation SNP C C G TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chrX:50653913C>G ENST00000252677.3 + 1 130 c.130C>G c.(130-132)Ctg>Gtg p.L44V NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 44 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) TACTTTGCCCCTGATTGAGGA 0.557000 6 0 0 0 1 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90672939 90672939 + Missense_Mutation SNP C C G TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr10:90672939C>G ENST00000371927.3 + 6 1460 c.502C>G c.(502-504)Cgc>Ggc p.R168G STAMBPL1_ENST00000371922.1_Missense_Mutation_p.R2G|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.R168G|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.R168G Q96FJ0 STALP_HUMAN STAM binding protein-like 1 168 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TGCTCAGATGCGCCAGCAGCA 0.443000 12 65 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1235783 1235783 + Silent SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr19:1235783G>A ENST00000590083.1 - 3 532 c.240C>T c.(238-240)ctC>ctT p.L80L C19orf26_ENST00000215376.6_Silent_p.L74L|C19orf26_ENST00000382477.2_Silent_p.L74L Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 74 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCACCTGTTGAGGCGCTGGT 0.662000 HNSCC(14;0.022) 5 27 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45639819 45639819 + Missense_Mutation SNP A A T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr14:45639819A>T ENST00000267430.5 + 12 2115 c.2030A>T c.(2029-2031)gAt>gTt p.D677V FANCM_ENST00000542564.2_Missense_Mutation_p.D651V NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 677 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 CTAAAGAAAGATTGGTTCTTA 0.299000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 44 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058348 11058348 + RNA SNP C C A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr21:11058348C>A 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) GGAGAGAAATCTCTTTATAAA 0.343000 5 105 0.000602214 0.000629588 1 1 0 DHX38 9785 broad.mit.edu 37 16 72134479 72134479 + Missense_Mutation SNP A A C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr16:72134479A>C ENST00000268482.3 + 9 1770 c.1261A>C c.(1261-1263)Att>Ctt p.I421L DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 421 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GGATGGGCGCATTGTCTTCAC 0.587000 13 30 0 0 1 0 0 BBS5 129880 broad.mit.edu 37 2 170349443 170349443 + Missense_Mutation SNP A A G TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr2:170349443A>G ENST00000295240.3 + 6 822 c.446A>G c.(445-447)aAc>aGc p.N149S BBS5_ENST00000554017.1_Missense_Mutation_p.N149S|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.N149S|BBS5_ENST00000392663.2_Missense_Mutation_p.N149S NM_152384.2 NP_689597.1 Bardet-Biedl syndrome 5 endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CTAATTCAGAACAAGCAACTA 0.313000 Bardet-Biedl syndrome 5 30 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55652923 55652923 + Missense_Mutation SNP C C A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr11:55652923C>A ENST00000449290.2 + 2 111 c.19C>A c.(19-21)Caa>Aaa p.Q7K NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 7 intracellular zinc ion binding TGGAATCTTGCAAGTCTTCCA 0.478000 23 52 4.22769e-11 4.94425e-11 1 1 0 KRT24 192666 broad.mit.edu 37 17 38859719 38859719 + Missense_Mutation SNP C C A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr17:38859719C>A ENST00000264651.2 - 1 283 c.227G>T c.(226-228)gGt>gTt p.G76V NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 76 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) TCCCCCAAAACCACCCCCTAC 0.602000 4 48 0.00024832 0.000263601 1 1 0 GNAI1 2770 broad.mit.edu 37 7 79818543 79818543 + Missense_Mutation SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr7:79818543G>A ENST00000351004.3 + 3 672 c.299G>A c.(298-300)cGg>cAg p.R100Q GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_Missense_Mutation_p.R48Q NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 100 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 GACTCAGCCCGGGCGGTAAGT 0.403000 5 38 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158397662 158397662 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr2:158397662C>T ENST00000243349.7 - 7 1525 c.1165G>A c.(1165-1167)Gct>Act p.A389T ACVR1C_ENST00000335450.7_Missense_Mutation_p.A309T|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A232T|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A339T NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 389 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 TAGATGTCAGCTCGTTTGAAG 0.388000 12 65 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110495238 110495238 + Silent SNP T T C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr8:110495238T>C ENST00000378402.5 + 57 9584 c.9480T>C c.(9478-9480)ctT>ctC p.L3160L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3160 G8 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGCTGGATCTTCATGGAATTC 0.408000 HNSCC(38;0.096) 3 10 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33129494 33129494 + Missense_Mutation SNP T T A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr11:33129494T>A ENST00000323959.4 - 5 450 c.311A>T c.(310-312)tAt>tTt p.Y104F CSTF3_ENST00000524827.1_Missense_Mutation_p.Y136F NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 104 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 ATATGAAAGATAACACTTCCA 0.338000 25 37 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52663765 52663765 + Missense_Mutation SNP A A C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr19:52663765A>C ENST00000322146.8 - 4 616 c.95T>G c.(94-96)tTg>tGg p.L32W ZNF836_ENST00000597065.1_Missense_Mutation_p.L32W|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.L32W NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 ATCCCAGTACAAAGCTTTCTG 0.433000 14 105 0 0 1 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90672938 90672938 + Missense_Mutation SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr10:90672938G>A ENST00000371927.3 + 6 1459 c.501G>A c.(499-501)atG>atA p.M167I STAMBPL1_ENST00000371922.1_Start_Codon_SNP_p.M1I|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.M167I|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.M167I Q96FJ0 STALP_HUMAN STAM binding protein-like 1 167 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TTGCTCAGATGCGCCAGCAGC 0.443000 12 65 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52840313 52840313 + Silent SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr3:52840313C>T ENST00000449956.2 + 18 1953 c.1947C>T c.(1945-1947)gaC>gaT p.D649D ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 649 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CACCAGTGGACGGGGATCCCC 0.582000 5 32 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168802820 168802820 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr3:168802820C>T ENST00000464456.1 - 15 4206 c.3006G>A c.(3004-3006)atG>atA p.M1002I MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000433243.2_Missense_Mutation_p.M1012I|MECOM_ENST00000392736.3_Missense_Mutation_p.M1011I|MECOM_ENST00000264674.3_Missense_Mutation_p.M1076I|MECOM_ENST00000472280.1_Missense_Mutation_p.M1012I|MECOM_ENST00000468789.1_Missense_Mutation_p.M1011I|MECOM_ENST00000494292.1_Missense_Mutation_p.M1190I NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GTGACAGCATCATAGCATATG 0.453000 20 40 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5966434 5966434 + Missense_Mutation SNP G G T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr10:5966434G>T ENST00000379999.5 + 18 2816 c.2712G>T c.(2710-2712)agG>agT p.R904S FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.R340S|FBXO18_ENST00000362091.4_Missense_Mutation_p.R853S NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 853 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 TGGTGCAAAGGATAGAAAAAT 0.458000 16 24 3.52763e-06 3.8636e-06 1 1 0 PLXNB1 5364 broad.mit.edu 37 3 48452351 48452351 + Missense_Mutation SNP T T G TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr3:48452351T>G ENST00000358536.4 - 29 5611 c.5342A>C c.(5341-5343)aAg>aCg p.K1781T PLXNB1_ENST00000296440.6_Missense_Mutation_p.K1781T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.K1598T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.K1598T|PLXNB1_ENST00000448774.2_Missense_Mutation_p.K392T NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1781 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CATCTTCTCCTTTGCCTGGGA 0.612000 10 8 0 0 1 0 0 ZNF778 197320 broad.mit.edu 37 16 89294750 89294750 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr16:89294750C>T ENST00000433976.2 + 6 2302 c.1970C>T c.(1969-1971)tCc>tTc p.S657F ZNF778_ENST00000306502.6_Missense_Mutation_p.S615F|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) TTCCGTGCCTCCTCTCACCTG 0.428000 7 16 0 0 1 0 0 EPCAM 4072 broad.mit.edu 37 2 47606938 47606938 + Missense_Mutation SNP A A C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr2:47606938A>C ENST00000263735.4 + 7 1046 c.688A>C c.(688-690)Aaa>Caa p.K230Q EPCAM_ENST00000405271.1_Missense_Mutation_p.K258Q NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 230 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 TCATTCTAAGAAAATGGACCT 0.343000 26 35 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139262626 139262626 + Splice_Site SNP C C A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr6:139262626C>A ENST00000450536.2 - 8 1555 c.980_splice c.e8-1 p.W327_splice REPS1_ENST00000258062.5_Splice_Site_p.W327_splice|REPS1_ENST00000415951.2_Splice_Site_p.W327_splice|REPS1_ENST00000367663.4_Splice_Site_p.W327_splice|REPS1_ENST00000409812.2_Splice_Site_p.W327_splice Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 327 EF-hand.|EH 2. coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) CTGAGAGTTCCCTAGAAGATA 0.368000 19 35 1.01871e-10 1.17152e-10 1 1 0 KRT25 147183 broad.mit.edu 37 17 38907296 38907296 + Silent SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr17:38907296G>A ENST00000312150.4 - 5 927 c.867C>T c.(865-867)gtC>gtT p.V289V NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 289 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTGTGGCTCCGACATCCTCAG 0.483000 4 57 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88818951 88818951 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr10:88818951C>T ENST00000277865.4 - 10 1454 c.1358G>A c.(1357-1359)cGt>cAt p.R453H GLUD1_ENST00000544149.1_Missense_Mutation_p.R320H|GLUD1_ENST00000537649.1_Missense_Mutation_p.R286H NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 453 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) GAAGGTCAAACGGCCATAGCT 0.403000 4 163 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2049812 2049812 + Missense_Mutation SNP C C A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr16:2049812C>A ENST00000563630.1 - 9 1815 c.1573G>T c.(1573-1575)Gcc>Tcc p.A525S ZNF598_ENST00000562103.1_Missense_Mutation_p.A525S|ZNF598_ENST00000431526.1_Missense_Mutation_p.A580S Q86UK7 ZN598_HUMAN zinc finger protein 598 580 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 TGGATGGAGGCCAGCCCCAGT 0.667000 6 10 2.0095e-06 2.23638e-06 1 1 0 TSN 7247 broad.mit.edu 37 2 122520661 122520661 + Splice_Site SNP G G C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr2:122520661G>C ENST00000389682.3 + 5 700 c.e5+1 TSN_ENST00000498545.1_Splice_Site|TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000536142.1_Intron NM_001261401.1|NM_004622.2 NP_001248330.1|NP_004613.1 Q15631 TSN_HUMAN translin DNA recombination cytoplasm|nucleus sequence-specific DNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1) 12 Ovarian(717;0.0563)|Prostate(154;0.116) CAGTGAACTGGTAAGCTCAGT 0.378000 6 23 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10090686 10090686 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr19:10090686C>T ENST00000264828.3 - 36 2727 c.2642G>A c.(2641-2643)gGg>gAg p.G881E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 881 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCCCTTTGGCCCAGGGAATCC 0.607000 3 26 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696688 47696688 + Missense_Mutation SNP T T C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr17:47696688T>C ENST00000393331.3 - 6 730 c.260A>G c.(259-261)tAc>tGc p.Y87C SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87C|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 87 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.Y87C(2)|p.Y87S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CAGTAACAGGTAAAGTGACAG 0.403000 Prostate(2;0.17) 32 34 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170312 20170312 + RNA SNP C C A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr15:20170312C>A ENST00000338912.5 - 0 42 ATCCTACCTGCAGCTATGACC 0.542000 45 53 5.13769e-22 6.11208e-22 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18842438 18842438 + RNA SNP G G A rs9604886 TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr22:18842438G>A ENST00000412938.1 + 0 2208 TGGGGAAGAGGAGAGTGGCTC 0.627000 3 14 0 0 1 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428375 128428375 + Silent SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr8:128428375C>T ENST00000465342.2 + 2 1421 c.264C>T c.(262-264)ggC>ggT p.G88G CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.G88G|CASC8_ENST00000502082.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 88 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 TGCCCCAAGGCGGCTTGGAGA 0.667000 9 26 0 0 1 0 0 RAB3C 115827 broad.mit.edu 37 5 57913607 57913607 + Silent SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr5:57913607C>T ENST00000282878.4 + 2 331 c.162C>T c.(160-162)tcC>tcT p.S54S NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 54 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) CAGATGACTCCTTTACATCTG 0.383000 6 18 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110883036 110883036 + Frame_Shift_Del DEL G G - TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr1:110883036delG ENST00000369784.3 + 1 1909 c.1009delG c.(1009-1011)agfs p.E337fs RBM15_ENST00000602849.1_Frame_Shift_Del_p.E337fs|RBM15_ENST00000487146.2_Frame_Shift_Del_p.E337fs NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 337 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CCCGTTCTATGAGAGAGTGCG 0.582 T MKL1 acute megakaryocytic leukemia 13 61 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 4 8 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1017661 1017663 + In_Frame_Del DEL TGT TGT - rs72022620 TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr11:1017661_1017663delTGT ENST00000421673.2 - 31 5188_5190 c.5138_5140delACA c.(5137-5142)atc>a p.NI1713del NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1713 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGGGGGTGATGTTGGTGGTAGA 0.527 12 505 --- --- --- --- CMIP 80790 broad.mit.edu 37 16 81740629 81740630 + Frame_Shift_Del DEL TC TC - TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr16:81740629_81740630delTC ENST00000537098.3 + 20 2280_2281 c.2208_2209delTC c.(2206-2211)agtcfs p.SL736fs CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Frame_Shift_Del_p.SL642fs|CMIP_ENST00000398040.4_Frame_Shift_Del_p.SL583fs NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 702 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CCATGAAGAGTCTCTGCAGTTT 0.515 20 141 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5e215fa-ef1d-4663-badb-152039afcbad b6d5714c-04e4-4c50-aa90-47f20ab06b71 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 7 270 --- --- --- ---