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 OR4A5 81318 broad.mit.edu 37 11 51411626 51411626 + Missense_Mutation SNP C C G TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr11:51411626C>G ENST00000319760.6 - 1 822 c.770G>C c.(769-771)aGa>aCa p.R257T NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TGAAACAGGTCTAACATATAT 0.388000 14 25 0 0 1 0 0 SUMF1 285362 broad.mit.edu 37 3 4452611 4452611 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr3:4452611C>T ENST00000272902.5 - 7 927 c.892G>A c.(892-894)Gca>Aca p.A298T SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 298 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) CATTCCCATGCGTTCCCCACT 0.423000 17 81 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137591840 137591840 + Silent SNP C C T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr9:137591840C>T ENST00000371817.3 + 3 777 c.363C>T c.(361-363)aaC>aaT p.N121N COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 121 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCATCTACAACGAGCAGGGTA 0.587000 16 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072126 9072126 + Missense_Mutation SNP G G C TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:9072126G>C ENST00000397910.4 - 3 15523 c.15320C>G c.(15319-15321)aCt>aGt p.T5107S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5109 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T5107N(2)|p.T740N(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCTTTAGAAGTGGCCAGTAT 0.423000 13 58 0 0 1 0 0 ZFAND4 93550 broad.mit.edu 37 10 46111991 46111991 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr10:46111991G>A ENST00000374366.3 - 11 2320 c.1855C>T c.(1855-1857)Cgt>Tgt p.R619C ZFAND4_ENST00000374371.2_3'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.R693C|ZFAND4_ENST00000374370.1_5'UTR Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 693 zinc ion binding TCTGCATAACGATGAGATGCA 0.423000 13 61 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804618 27804618 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:27804618C>T ENST00000408964.2 + 1 5230 c.5179C>T c.(5179-5181)Cgc>Tgc p.R1727C NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1727 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GAGGAGCCATCGCAGTCCCTC 0.562000 82 112 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22086787 22086787 + Silent SNP C C A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr12:22086787C>A ENST00000261200.4 - 2 212 c.213G>T c.(211-213)ctG>ctT p.L71L ABCC9_ENST00000345162.2_Silent_p.L71L|ABCC9_ENST00000261201.4_Silent_p.L71L|ABCC9_ENST00000326684.4_Silent_p.L71L|ABCC9_ENST00000538350.1_Silent_p.L71L NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 71 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAATCCATCTCAGGTTATGTC 0.398000 5 69 2.7689e-08 2.92272e-08 1 1 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 7 36 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45937118 45937118 + Missense_Mutation SNP A A T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr22:45937118A>T ENST00000348697.2 + 9 1079 c.932A>T c.(931-933)gAg>gTg p.E311V FBLN1_ENST00000340923.5_Missense_Mutation_p.E311V|FBLN1_ENST00000402984.3_Missense_Mutation_p.E349V|FBLN1_ENST00000327858.6_Missense_Mutation_p.E311V|FBLN1_ENST00000262722.7_Missense_Mutation_p.E311V|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000442170.2_Missense_Mutation_p.E311V P23142 FBLN1_HUMAN fibulin 1 311 EGF-like 4; calcium-binding (Potential). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GATATCAATGAGTGTTTGAGT 0.527000 8 58 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31074772 31074772 + Nonsense_Mutation SNP A A T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr14:31074772A>T ENST00000206595.6 + 11 1226 c.1072A>T c.(1072-1074)Aaa>Taa p.K358* G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*|G2E3_ENST00000544007.1_Intron NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 358 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 ATTCCAAATTAAAAAAAAAAC 0.274000 8 18 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877893 130877893 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:130877893G>A ENST00000357462.5 - 1 289 c.196C>T c.(196-198)Cgc>Tgc p.R66C POTEF_ENST00000409914.2_Missense_Mutation_p.R66C|POTEF_ENST00000360967.5_Missense_Mutation_p.R66C|POTEF_ENST00000361163.4_Missense_Mutation_p.R66C A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 66 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AAGCAGTGGCGGCACCACTTG 0.602000 4 117 0 0 1 0 0 PPAP2C 8612 broad.mit.edu 37 19 282295 282295 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:282295G>A ENST00000269812.3 - 5 605 c.556C>T c.(556-558)Cga>Tga p.R186* PPAP2C_ENST00000434325.2_Nonsense_Mutation_p.R130*|PPAP2C_ENST00000327790.3_Nonsense_Mutation_p.R207* NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 186 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CAACAGAGTCGTGCCTGCACA 0.617000 4 41 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144008083 144008083 + Missense_Mutation SNP A A G TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:144008083A>G ENST00000295095.6 + 6 555 c.388A>G c.(388-390)Act>Gct p.T130A NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 130 PH. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) ATTACAGAAAACTGGGCACAA 0.368000 3 24 0 0 1 0 0 GPER 0 broad.mit.edu 37 7 1131651 1131651 + Missense_Mutation SNP T T C TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr7:1131651T>C ENST00000397092.1 + 3 1171 c.287T>C c.(286-288)cTg>cCg p.L96P GPER_ENST00000401670.1_Missense_Mutation_p.L96P|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.L96P|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.L96P|C7orf50_ENST00000397098.3_Intron NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 96 endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) ATCCCCGACCTGTACTTCATC 0.577000 8 24 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90136723 90136723 + Missense_Mutation SNP T T A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr5:90136723T>A ENST00000405460.2 + 78 17036 c.16940T>A c.(16939-16941)gTg>gAg p.V5647E GPR98_ENST00000425867.2_Missense_Mutation_p.V1308E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5647 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTCAACAGAGTGCTCCATACC 0.428000 4 29 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 31 41 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692128 116692128 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr11:116692128C>T ENST00000357780.3 - 3 760 c.646G>A c.(646-648)Gtg>Atg p.V216M NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) AGCTCCTCCACGGTCTGGTCA 0.592000 5 180 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76909614 76909614 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chrX:76909614G>A ENST00000373344.5 - 14 4505 c.4291C>T c.(4291-4293)Caa>Taa p.Q1431* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1431 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GAATCTTCTTGAACCTTAATA 0.353000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 25 10 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139135697 139135697 + Missense_Mutation SNP T T C TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr6:139135697T>C ENST00000423192.1 + 3 297 c.136T>C c.(136-138)Ttc>Ctc p.F46L ECT2L_ENST00000367682.2_Missense_Mutation_p.F46L|ECT2L_ENST00000541398.1_5'UTR Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 46 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 ACGTCAAGAATTCTTATTCGC 0.348000 """N, Splice, Mis""" ETP ALL 4 16 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511142 195511142 + Missense_Mutation SNP T T C rs430037 by1000genomes TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr3:195511142T>C ENST00000463781.3 - 2 7768 c.7309A>G c.(7309-7311)Aac>Gac p.N2437D MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.N2437D NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 195 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.N2437D(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAACGTTGGTGACAGGA 0.597000 3 3 0 0 1 0 0 C4orf19 55286 broad.mit.edu 37 4 37592609 37592609 + Missense_Mutation SNP A A C TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr4:37592609A>C ENST00000284437.6 + 3 1110 c.932A>C c.(931-933)gAt>gCt p.D311A C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 311 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 GAAGATTTGGATGAGACTGAT 0.552000 23 22 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45322605 45322605 + Silent SNP C C T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:45322605C>T ENST00000391955.1 + 12 1520 c.1476C>T c.(1474-1476)ccC>ccT p.P492P BCAM_ENST00000270233.6_Silent_p.P492P P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 492 Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CTCCATAGCCCGCAGAGCCAA 0.647000 3 56 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82817082 82817082 + Missense_Mutation SNP T T C TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr5:82817082T>C ENST00000265077.3 + 7 3522 c.2957T>C c.(2956-2958)tTa>tCa p.L986S VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.L938S|VCAN_ENST00000342785.4_Missense_Mutation_p.L986S|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 986 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGGGGAGTGTTAGTACCTTCT 0.428000 3 40 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47868122 47868122 + Missense_Mutation SNP G G T rs147830129 TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr20:47868122G>T ENST00000396105.1 - 13 3500 c.3254C>A c.(3253-3255)cCc>cAc p.P1085H ZNFX1_ENST00000371754.4_Missense_Mutation_p.P1085H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P1085H NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1085 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTAAATGTGGGGGGTCAAAAG 0.438000 4 36 1.23904e-05 1.27253e-05 1 1 0 C4orf21 55345 broad.mit.edu 37 4 113508492 113508492 + Missense_Mutation SNP T T A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr4:113508492T>A ENST00000505019.1 - 12 3846 c.3721A>T c.(3721-3723)Att>Ttt p.I1241F NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ACATTTTTAATTTCCTCTGTC 0.388000 5 81 0 0 1 0 0 LEKR1 389170 broad.mit.edu 37 3 156745897 156745897 + Silent SNP T T C TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr3:156745897T>C ENST00000470811.1 + 13 1797 c.462T>C c.(460-462)tcT>tcC p.S154S LEKR1_ENST00000356539.4_Silent_p.S458S D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 0 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TACAGATATCTGACTTAATCA 0.343000 21 20 0 0 1 0 0 IGHG1 0 broad.mit.edu 37 14 106209335 106209335 + RNA SNP A A G TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr14:106209335A>G ENST00000390548.2 - 0 73 CAGGCAGCCCAGGGCTGCTGT 0.662000 4 23 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 8 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043714 56043714 + Silent SNP T T C TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr11:56043714T>C ENST00000313033.2 + 1 686 c.600T>C c.(598-600)tcT>tcC p.S200S NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S200S(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTGCTATTTCTTGTTCTGACA 0.398000 69 96 0 0 1 0 0 POLR1E 64425 broad.mit.edu 37 9 37500851 37500851 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr9:37500851G>A ENST00000377792.3 + 9 1375 c.1087G>A c.(1087-1089)Gga>Aga p.G363R POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R|POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 363 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) TCTGGGACCTGGAGTTCCCCA 0.483000 9 14 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94544878 94544878 + Splice_Site SNP A A T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr1:94544878A>T ENST00000370225.3 - 9 1325 c.1239_splice c.e9+1 p.N413_splice ABCA4_ENST00000535735.1_Splice_Site_p.N413_splice NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 413 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGGATCTTACATTCTTCAGTA 0.502000 4 49 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038819 17038819 + Splice_Site SNP C C T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:17038819C>T ENST00000443236.1 - 25 3542 c.3511_splice c.e25+1 p.G1171_splice NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1124 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACAGACGCACCGATGATGGAG 0.637000 13 24 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161681737 161681737 + Silent SNP G G A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr1:161681737G>A ENST00000540926.1 + 5 824 c.531G>A c.(529-531)gcG>gcA p.A177A FCRLA_ENST00000236938.6_Silent_p.A188A|FCRLA_ENST00000309691.6_Silent_p.A82A|FCRLA_ENST00000294796.4_Silent_p.A37A|FCRLA_ENST00000546024.1_Silent_p.A99A|FCRLA_ENST00000540521.1_Silent_p.A54A|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.A177A|FCRLA_ENST00000367957.2_Silent_p.A48A|FCRLA_ENST00000367959.2_Silent_p.A194A|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Intron Q7L513 FCRLA_HUMAN Fc receptor-like A 171 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TGTTTCCAGCGCCAATTCTCA 0.527000 4 166 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15061177 15061177 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:15061177C>T ENST00000430939.2 - 9 1462 c.1333G>A c.(1333-1335)Gta>Ata p.V445I SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I|SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 509 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.V509I(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TCCCCCAGTACGTTGGTCATT 0.577000 13 22 0 0 1 0 0 AC096649.3 0 broad.mit.edu 37 2 176190119 176190259 + RNA DEL GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT - rs148912092 by1000genomes TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT ENST00000438963.1 + 0 247 gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa 0.440 45 98 --- --- --- --- RFTN1 23180 broad.mit.edu 37 3 16411682 16411685 + Frame_Shift_Del DEL CTGT CTGT - TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr3:16411682_16411685delCTGT ENST00000334133.4 - 6 1200_1203 c.928_931delACAG c.(928-933)tgfs p.TV310fs RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 310 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 AAACCGCTCACTGTCTGGCCATTC 0.510 35 146 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 6 9 --- --- --- --- WFIKKN2 124857 broad.mit.edu 37 17 48917204 48917204 + Frame_Shift_Del DEL C C - TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr17:48917204delC ENST00000311378.4 + 2 1083 c.555delC c.(553-555)agfs p.S185fs WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 185 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCAACACCAGCCCCCCACCAC 0.627 12 26 --- --- --- --- ROCK1 6093 broad.mit.edu 37 18 18586471 18586474 + Frame_Shift_Del DEL TAAT TAAT - TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr18:18586471_18586474delTAAT ENST00000399799.1 - 16 2663_2666 c.1723_1726delATTA c.(1723-1728)gtfs p.IS575fs NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 575 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TCTAACTGACTAATTGACTTGCTC 0.382 9 98 --- --- --- --- APOC1P1 0 broad.mit.edu 37 19 45431267 45431268 + RNA INS - - A TCGA-TQ-A7RK-02A-11D-A36O-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c7f2092-dcae-460d-a4f6-ce80cfc07567 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:45431267_45431268insA ENST00000574565.1 + 0 402 NR_028412.1 TGAACAGATTGAAAAAAAAAAC 0.525 2 4 --- --- --- ---