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 DLG2 1740 broad.mit.edu 37 11 83243769 83243769 + Silent SNP T T C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr11:83243769T>C ENST00000398309.2 - 16 2330 c.1860A>G c.(1858-1860)ggA>ggG p.G620G DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000531015.1_Silent_p.G587G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000532653.1_Silent_p.G620G|DLG2_ENST00000524982.1_Silent_p.G620G NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 620 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AATCAATCACTCCAGGTTTGG 0.398000 40 57 0 0 0.870114 0 0 CFH 3075 broad.mit.edu 37 1 196684882 196684882 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr1:196684882A>G ENST00000367429.4 + 11 1919 c.1679A>G c.(1678-1680)gAt>gGt p.D560G NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 560 Sushi 9. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GGTTGGTCTGATTTACCCATA 0.328000 15 137 0 0 0.539581 0 0 GDPD5 81544 broad.mit.edu 37 11 75150998 75150998 + Silent SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr11:75150998G>A ENST00000526177.1 - 11 2946 c.1068C>T c.(1066-1068)gaC>gaT p.D356D GDPD5_ENST00000533784.1_Silent_p.D375D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Silent_p.D249D|GDPD5_ENST00000529721.1_Silent_p.D494D|GDPD5_ENST00000376282.3_Silent_p.D375D|GDPD5_ENST00000336898.3_Silent_p.D494D Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 494 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 GACAGTACTCGTCCGGGGGCT 0.602000 35 62 0 0 0.779181 0 0 DNAH1 25981 broad.mit.edu 37 3 52430809 52430809 + Missense_Mutation SNP A A T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr3:52430809A>T ENST00000420323.2 + 72 11867 c.11606A>T c.(11605-11607)tAc>tTc p.Y3869F NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3934 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GACATCCCCTACAAGGTGGGC 0.597000 80 197 0 0 0.870114 0 0 FOXC2 2303 broad.mit.edu 37 16 86601138 86601138 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr16:86601138C>T ENST00000320354.4 + 1 282 c.197C>T c.(196-198)gCg>gTg p.A66V RP11-463O9.5_ENST00000563280.1_RNA NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 66 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 CAGCCCGCGGCGCCTAAGGAC 0.657000 Late-onset Hereditary Lymphedema 21 48 0 0 0.667858 0 0 LPP 4026 broad.mit.edu 37 3 188327155 188327155 + Silent SNP G G T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr3:188327155G>T ENST00000312675.4 + 6 882 c.636G>T c.(634-636)acG>acT p.T212T LPP_ENST00000448637.1_Silent_p.T212T|LPP_ENST00000543006.1_Silent_p.T212T|LPP_ENST00000471917.1_3'UTR NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 212 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CCTACACCACGGCCTCCACTT 0.562000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 40 70 3.43241e-23 4.21525e-23 0.847076 1 0 TPM1 7168 broad.mit.edu 37 15 63336341 63336341 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr15:63336341A>G ENST00000357980.4 + 3 435 c.356A>G c.(355-357)aAg>aGg p.K119R TPM1_ENST00000288398.6_Missense_Mutation_p.K77R|TPM1_ENST00000358278.3_Missense_Mutation_p.K77R|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.K77R|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000403994.3_Missense_Mutation_p.K77R P09493 TPM1_HUMAN tropomyosin 1 (alpha) 77 cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle endometrium(1)|large_intestine(1)|lung(2) 4 GCAGAGAAAAAGGCCACCGAT 0.542000 3 78 0 0 0.150653 0 0 ADAM29 11086 broad.mit.edu 37 4 175897613 175897613 + Missense_Mutation SNP T T C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr4:175897613T>C ENST00000359240.3 + 5 1607 c.937T>C c.(937-939)Tgt>Cgt p.C313R ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 313 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ACACCGTAGTTGTGCAATTGT 0.418000 40 90 0 0 0.834066 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31126590 31126590 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr7:31126590C>T ENST00000304166.4 + 11 1146 c.857C>T c.(856-858)aCg>aTg p.T286M ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T286M|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T265M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T286M NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 286 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GTGTGGGCTACGCTGAGACTC 0.512000 56 94 0 0 0.870114 0 0 PTK7 0 broad.mit.edu 37 6 43097526 43097526 + Missense_Mutation SNP G G C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr6:43097526G>C ENST00000230419.4 + 3 650 c.429G>C c.(427-429)caG>caC p.Q143H PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 143 Ig-like C2-type 2. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TCCAGCCACAGACCCAGGTCA 0.592000 OREG0017449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 78 0 0 0.769981 0 0 ACAN 176 broad.mit.edu 37 15 89391173 89391173 + Missense_Mutation SNP G G A rs62640041 TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr15:89391173G>A ENST00000439576.2 + 9 2010 c.1636G>A c.(1636-1638)Gtg>Atg p.V546M ACAN_ENST00000559004.1_Missense_Mutation_p.V546M|ACAN_ENST00000352105.7_Missense_Mutation_p.V546M|ACAN_ENST00000561243.1_Missense_Mutation_p.V546M|ACAN_ENST00000558207.1_Missense_Mutation_p.V546M NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 546 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GACCCCATGCGTGGGTGACAA 0.592000 10 76 0 0 0.411799 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643175 1643175 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr11:1643175C>T ENST00000399682.1 - 1 193 c.149G>A c.(148-150)tGt>tAt p.C50Y NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 50 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GATGGGCACACAGCAGCTGGa 0.682000 73 149 0 0 0.870114 0 0 POSTN 10631 broad.mit.edu 37 13 38158190 38158190 + Missense_Mutation SNP G G T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr13:38158190G>T ENST00000379747.4 - 9 1276 c.1159C>A c.(1159-1161)Ctt>Att p.L387I POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379743.4_Missense_Mutation_p.L387I NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 387 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TGGGCCACAAGATCCGTGAAG 0.438000 12 34 7.03913e-09 8.07769e-09 0.411799 1 0 CYP24A1 0 broad.mit.edu 37 20 52779274 52779274 + Silent SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr20:52779274C>T ENST00000216862.3 - 7 1365 c.972G>A c.(970-972)caG>caA p.Q324Q CYP24A1_ENST00000395955.3_Silent_p.Q324Q|CYP24A1_ENST00000395954.3_Silent_p.Q182Q NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 324 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CCGCAGCCAGCTGGAGCTCTG 0.418000 8 59 0 0 0.307466 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1709962 1709962 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr16:1709962A>G ENST00000397412.3 + 11 2410 c.2311A>G c.(2311-2313)Aag>Gag p.K771E LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 771 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GCCCCCAGGGAAGGTGGTGAC 0.637000 18 34 0 0 0.654019 0 0 RP11-510H23.1 0 broad.mit.edu 37 6 125233565 125233565 + RNA SNP G G T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr6:125233565G>T ENST00000439075.1 - 0 1180 NR_026876.1 TTTTCTAATGGCTATCTTGTT 0.378000 7 45 5.18039e-06 5.75599e-06 0.278610 1 0 HEATR5B 54497 broad.mit.edu 37 2 37280709 37280709 + Missense_Mutation SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr2:37280709G>A ENST00000233099.5 - 17 2536 c.2441C>T c.(2440-2442)gCt>gTt p.A814V HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 814 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GACACCTTTAGCTTGTTTAAC 0.318000 12 36 0 0 0.457914 0 0 SERINC1 57515 broad.mit.edu 37 6 122779772 122779772 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr6:122779772C>T ENST00000368454.1 - 4 423 c.94G>A c.(94-96)Gga>Aga p.G32R SERINC1_ENST00000339697.3_Missense_Mutation_p.G32R Q9NRX5 SERC1_HUMAN serine incorporator 1 32 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) GAGTTGTTTCCACTAGGACAG 0.373000 53 108 0 0 0.870114 0 0 CEBPE 1053 broad.mit.edu 37 14 23587880 23587880 + Silent SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr14:23587880G>A ENST00000206513.5 - 1 945 c.421C>T c.(421-423)Ctg>Ttg p.L141L NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 141 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TGGTACTGCAGGGGATTGTAG 0.677000 15 21 0 0 0.539581 0 0 NPHP4 261734 broad.mit.edu 37 1 5964711 5964711 + Silent SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr1:5964711G>A ENST00000378156.4 - 16 2374 c.2109C>T c.(2107-2109)ctC>ctT p.L703L NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 703 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TCACAGGCACGAGGATGTGGG 0.572000 22 43 0 0 0.706142 0 0 ADAM21P1 0 broad.mit.edu 37 14 70713742 70713742 + RNA SNP G G T rs115439852 by1000genomes TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr14:70713742G>T ENST00000530196.1 - 0 776 NR_003951.1 CCACAACAACGAGCTCCAGAA 0.433000 3 103 0.00198382 0.00213642 0.248553 1 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 4 86 0 0 0.150653 0 0 MEMO1 51072 broad.mit.edu 37 2 32145945 32145945 + Missense_Mutation SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr2:32145945C>A ENST00000295065.4 - 4 556 c.247G>T c.(247-249)Gtg>Ttg p.V83L MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L|MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 83 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) GAGAGGGGCACATGATGAGAA 0.373000 31 69 1.90571e-15 2.29999e-15 0.796494 1 0 CBLN1 869 broad.mit.edu 37 16 49314902 49314902 + Missense_Mutation SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr16:49314902C>A ENST00000219197.6 - 2 681 c.316G>T c.(316-318)Gcc>Tcc p.A106S CBLN1_ENST00000536749.1_Missense_Mutation_p.A106S NM_004352.3 NP_004343.1 P23435 CBLN1_HUMAN cerebellin 1 precursor 106 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). nervous system development|synaptic transmission cell junction|extracellular region|synapse breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(37;0.0766)|all_lung(18;0.24) TTGCGCGGGGCGATGAAAGTG 0.542000 30 57 1.45844e-13 1.73035e-13 0.769981 1 0 MAGEC3 139081 broad.mit.edu 37 X 140983190 140983190 + Missense_Mutation SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chrX:140983190C>A ENST00000298296.1 + 5 1045 c.1045C>A c.(1045-1047)Caa>Aaa p.Q349K MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000443323.2_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 349 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GGCCAATCCTCAAGGTAAGGG 0.577000 45 27 8.72198e-27 1.09025e-26 0.870114 1 0 CRAMP1L 57585 broad.mit.edu 37 16 1709961 1709961 + Silent SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr16:1709961G>A ENST00000397412.3 + 11 2409 c.2310G>A c.(2308-2310)ggG>ggA p.G770G LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G767G|CRAMP1L_ENST00000293925.5_Silent_p.G770G|CRAMP1L_ENST00000262317.4_Silent_p.G148G Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 770 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CGCCCCCAGGGAAGGTGGTGA 0.637000 18 35 0 0 0.639603 0 0 DDX31 64794 broad.mit.edu 37 9 135522235 135522235 + Missense_Mutation SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr9:135522235G>A ENST00000372159.3 - 12 1644 c.1493C>T c.(1492-1494)gCg>gTg p.A498V DDX31_ENST00000310532.2_Missense_Mutation_p.A498V|DDX31_ENST00000372153.1_Missense_Mutation_p.A498V|DDX31_ENST00000438527.3_Missense_Mutation_p.A369V NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 498 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GATGAAGGCCGCTAGGCAGAC 0.532000 4 134 0 0 0.248553 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747555 68747555 + Missense_Mutation SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr11:68747555G>A ENST00000309106.3 - 1 900 c.901C>T c.(901-903)Cgc>Tgc p.R301C NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 301 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGCTCCTCGCGAAGCGCCTGT 0.677000 14 33 0 0 0.557998 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 107 0 0 0.248553 0 0 AAK1 22848 broad.mit.edu 37 2 69741780 69741780 + Missense_Mutation SNP C C G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr2:69741780C>G ENST00000409085.4 - 13 1975 c.1599G>C c.(1597-1599)caG>caC p.Q533H AAK1_ENST00000409068.1_Missense_Mutation_p.Q533H|AAK1_ENST00000406297.3_Missense_Mutation_p.Q533H NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 533 Gln-rich. Q -> H. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 gctgctgctgctgGTAGAAAT 0.532000 3 31 0 0 0.115264 0 0 UMPS 7372 broad.mit.edu 37 3 124449418 124449418 + Missense_Mutation SNP T T C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr3:124449418T>C ENST00000232607.2 + 1 206 c.100T>C c.(100-102)Tcc>Ccc p.S34P UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 34 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) CGGGCTTTCCTCCCCCATCTA 0.602000 3 98 0 0 0.150653 0 0 CYP27B1 1594 broad.mit.edu 37 12 58158697 58158697 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr12:58158697A>G ENST00000228606.4 - 5 1012 c.803T>C c.(802-804)gTg>gCg p.V268A NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 268 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) TCGCCGCTCCACGTGCCTCTG 0.607000 41 84 0 0 0.870114 0 0 GK 2710 broad.mit.edu 37 X 30737631 30737631 + Splice_Site SNP G G C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chrX:30737631G>C ENST00000378943.3 + 14 1311 c.1133_splice c.e14+1 p.G378_splice RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Splice_Site_p.G384_splice|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Splice_Site_p.G378_splice|GK_ENST00000427190.1_Splice_Site_p.G179_splice NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 384 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 CAGCGCAAGAGGGTAAGTATT 0.353000 29 15 0 0 0.804634 0 0 GGT3P 0 broad.mit.edu 37 22 18778604 18778604 + RNA SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr22:18778604G>A ENST00000412448.1 - 0 801 TGGCATCCGCGGCCACGGCAG 0.622000 7 15 0 0 0.335167 0 0 KRI1 65095 broad.mit.edu 37 19 10670558 10670558 + Silent SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr19:10670558C>T ENST00000312962.6 - 10 892 c.873G>A c.(871-873)gaG>gaA p.E291E KRI1_ENST00000361821.5_Silent_p.E287E NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 291 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TCAGAAACAGCTCCCCTTCGT 0.592000 11 27 0 0 0.361761 0 0 ZNF615 284370 broad.mit.edu 37 19 52498074 52498074 + Missense_Mutation SNP A A T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr19:52498074A>T ENST00000602063.1 - 6 604 c.255T>A c.(253-255)gaT>gaA p.D85E ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E Q8N8J6 ZN615_HUMAN zinc finger protein 615 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCAGAGGATCATCAATTTTCC 0.328000 6 37 0 0 0.278610 0 0 HAO1 54363 broad.mit.edu 37 20 7894923 7894923 + Missense_Mutation SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr20:7894923G>A ENST00000378789.3 - 3 484 c.433C>T c.(433-435)Cgg>Tgg p.R145W NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 145 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TCTGCCTGCCGCACTAGCTTC 0.517000 23 67 0 0 0.654019 0 0 DAPK1 1612 broad.mit.edu 37 9 90252885 90252885 + Silent SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr9:90252885C>T ENST00000469640.2 + 4 687 c.312C>T c.(310-312)ttC>ttT p.F104F DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000408954.3_Silent_p.F104F|DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F P53355 DAPK1_HUMAN death-associated protein kinase 1 104 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TGTTTGACTTCTTAGCTGAAA 0.418000 Chronic Lymphocytic Leukemia, Familial Clustering of 8 93 0 0 0.361761 0 0 STK35 140901 broad.mit.edu 37 20 2097968 2097968 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr20:2097968C>T ENST00000381482.3 + 3 1820 c.1549C>T c.(1549-1551)Cgg>Tgg p.R517W STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.R384W Q8TDR2 STK35_HUMAN serine/threonine kinase 35 517 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2) 13 CCCACAGGACCGGCCTGATGC 0.473000 14 93 0 0 0.520397 0 0 CYP24A1 0 broad.mit.edu 37 20 52779277 52779277 + Silent SNP G G T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr20:52779277G>T ENST00000216862.3 - 7 1362 c.969C>A c.(967-969)ctC>ctA p.L323L CYP24A1_ENST00000395955.3_Silent_p.L323L|CYP24A1_ENST00000395954.3_Silent_p.L181L NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 323 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CAGCCAGCTGGAGCTCTGTGA 0.418000 9 59 7.48243e-07 8.4479e-07 0.335167 1 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 4 308 0 0 0.150653 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G G T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chrX:26212431G>T ENST00000379034.1 + 2 617 c.468G>T c.(466-468)tcG>tcT p.S156S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. p.S156S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCACTGGCTCGCCTGATGCAG 0.507000 3 34 0.115264 0.118654 0.115264 1 0 ATP9A 10079 broad.mit.edu 37 20 50244193 50244193 + Silent SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr20:50244193C>A ENST00000338821.5 - 17 2055 c.1791G>T c.(1789-1791)cgG>cgT p.R597R ATP9A_ENST00000311637.5_Silent_p.R461R|ATP9A_ENST00000402822.1_Silent_p.R476R NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 597 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCACGAGCACCCGCAGCCCTT 0.567000 104 264 4.64173e-58 5.90766e-58 0.870114 1 0 RALBP1 10928 broad.mit.edu 37 18 9522268 9522268 + Nonsense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr18:9522268C>T ENST00000019317.4 + 4 1037 c.814C>T c.(814-816)Cga>Tga p.R272* RALBP1_ENST00000383432.3_Nonsense_Mutation_p.R272* Q15311 RBP1_HUMAN ralA binding protein 1 272 Rho-GAP. chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 GCAGTATTTGCGAGACCTTCC 0.483000 9 68 0 0 0.335167 0 0 TYR 7299 broad.mit.edu 37 11 89028439 89028439 + Silent SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr11:89028439C>T ENST00000263321.5 + 5 1997 c.1495C>T c.(1495-1497)Ctg>Ttg p.L499L NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 499 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TGTGAGCTTGCTGTGTCGTCA 0.537000 8 24 0 0 0.335167 0 0 TMF1 7110 broad.mit.edu 37 3 69075248 69075248 + Splice_Site SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr3:69075248C>A ENST00000543976.1 - 14 3013 c.2766_splice c.e14-1 p.E923_splice CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Splice_Site_p.E920_splice|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 920 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GGCTTGCGTTCCTTAGGGAGT 0.388000 3 40 0.150653 0.152837 0.150653 1 0 CSF1R 1436 broad.mit.edu 37 5 149452922 149452922 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr5:149452922A>G ENST00000286301.3 - 7 1315 c.1024T>C c.(1024-1026)Ttt>Ctt p.F342L CSF1R_ENST00000543093.1_Intron NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 342 Ig-like C2-type 4. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TGGTCAGAAAAGGGTCCCAGG 0.567000 4 254 0 0 0.217242 0 0 DPP6 1804 broad.mit.edu 37 7 154379675 154379675 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr7:154379675C>T ENST00000406326.1 + 6 1346 c.943C>T c.(943-945)Ctc>Ttc p.L315F DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ACCTGCAGCCCTCAGGCAGCA 0.587000 69 112 0 0 0.870114 0 0 TOP3B 8940 broad.mit.edu 37 22 22324625 22324625 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr22:22324625C>T ENST00000398793.2 - 6 972 c.538G>A c.(538-540)Gct>Act p.A180T TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 180 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TCCTGGCGAGCATCCACTGAG 0.622000 7 72 0 0 0.307466 0 0 PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 7 90 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395440.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 148 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 4 8 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 11 471 --- --- --- --- MED26 9441 broad.mit.edu 37 19 16688490 16688490 + Frame_Shift_Del DEL T T - TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr19:16688490delT ENST00000263390.3 - 3 413 c.151delA c.(151-153)cafs p.T51fs CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs|CTC-429P9.4_ENST00000593962.1_5'UTR NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 51 TFIIS N-terminal. regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 CCAAGTCGTGTTTCCTACAAC 0.537 23 44 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 8 183 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350672 50350674 + In_Frame_Del DEL TCT TCT - rs3747282 byFrequency TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chrX:50350672_50350674delTCT ENST00000376020.2 - 6 3493_3495 c.3468_3470delAGA c.(3466-3471)gag>ga p.EE1156del SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1156 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.E1156E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TGGCAGctcctcttcctcctcct 0.557 4 7 --- --- --- ---