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 CREBBP 1387 broad.mit.edu 37 16 3786756 3786756 + Silent SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr16:3786756A>G ENST00000262367.5 - 27 5264 c.4455T>C c.(4453-4455)caT>caC p.H1485H CREBBP_ENST00000382070.3_Silent_p.H1447H NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1485 Cys/His-rich.|Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.H1485H(2) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGGGTGGCAATGGAAGATGT 0.512000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 16 169 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177943 7177943 + Silent SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr12:7177943C>T ENST00000406697.1 + 15 2683 c.2055C>T c.(2053-2055)ccC>ccT p.P685P C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000328916.3_Silent_p.P685P P09871 C1S_HUMAN complement component 1, s subcomponent 685 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.P685P(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) ATAGCACCCCCCGTGAGGACT 0.483000 15 127 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455562 50455562 + Missense_Mutation SNP C C T rs140702198 byFrequency TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr19:50455562C>T ENST00000447370.2 - 9 1831 c.1741G>A c.(1741-1743)Gtc>Atc p.V581I CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 581 cell adhesion integral to membrane sugar binding p.V569I(1)|p.V581I(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TACCTGAAGACGACAAGGCAG 0.622000 6 97 0 0 1 0 0 CA14 23632 broad.mit.edu 37 1 150235768 150235768 + Missense_Mutation SNP G G C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:150235768G>C ENST00000369111.4 + 8 1761 c.791G>C c.(790-792)cGa>cCa p.R264P NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 264 integral to membrane carbonate dehydratase activity|metal ion binding p.R264P(1) central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAGAACTACCGAGCCCTTCAG 0.522000 11 112 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170343 20170343 + RNA SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr15:20170343A>G ENST00000338912.5 - 0 11 GGATCCTCCAAGTCCAGCCCA 0.522000 6 195 0 0 1 0 0 C3orf38 285237 broad.mit.edu 37 3 88202584 88202584 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr3:88202584C>T ENST00000318887.3 + 2 648 c.338C>T c.(337-339)cCa>cTa p.P113L C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 113 apoptosis p.P111L(1)|p.P113L(1) breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) ACGCCAGAGCCAGTTACAAAG 0.368000 5 71 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725481 87725481 + Silent SNP C C A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr6:87725481C>A ENST00000305344.4 + 2 1132 c.429C>A c.(427-429)atC>atA p.I143I HTR1E_ENST00000369584.1_Silent_p.I143I NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 143 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.I143I(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CGCTGATGATCCTTACCGTCT 0.582000 12 83 7.03913e-09 7.03913e-09 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 56 0 0 1 0 0 OR4D9 390199 broad.mit.edu 37 11 59282922 59282922 + Silent SNP C C T rs145873782 TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:59282922C>T ENST00000329328.3 + 1 537 c.537C>T c.(535-537)tgC>tgT p.C179C NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C179C(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CTTTCTACTGCGATGTCCCCC 0.493000 10 200 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70349258 70349258 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chrX:70349258C>T ENST00000333646.6 + 26 3869 c.3670C>T c.(3670-3672)Ctc>Ttc p.L1224F MED12_ENST00000374080.3_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1224 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.L1224F(10)|p.V1223>?(2)|p.L1224V(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GTTTGCTGTTCTCAAGGCTGT 0.562000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 33 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 193056699 193056699 + Silent SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr2:193056699T>C ENST00000409056.3 - 2 188 c.189A>G c.(187-189)gaA>gaG p.E63E TMEFF2_ENST00000272771.5_Silent_p.E63E|TMEFF2_ENST00000392314.1_Silent_p.E63E Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 63 E -> G (in Ref. 6; BAC11030). extracellular region|integral to membrane p.E63E(1) breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AGAGATCATTTTCTCTGTCAT 0.348000 7 58 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28157508 28157508 + Missense_Mutation SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr16:28157508T>C ENST00000304658.5 - 9 1741 c.1241A>G c.(1240-1242)tAc>tGc p.Y414C XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 414 protein export from nucleus protein binding|protein transporter activity p.Y414C(3) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 ACAAGAGAAGTAACCTTCATG 0.358000 5 124 0 0 1 0 0 DHRS7 51635 broad.mit.edu 37 14 60619800 60619800 + Missense_Mutation SNP A A C rs111656127 TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr14:60619800A>C ENST00000216500.5 - 5 945 c.490T>G c.(490-492)Tta>Gta p.L164V DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V|DHRS7_ENST00000553986.1_5'UTR Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 164 binding|oxidoreductase activity p.L164V(1) endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) ACCGTCCCTAAGTAGTTAAGC 0.443000 16 174 0 0 1 0 0 TMEM61 199964 broad.mit.edu 37 1 55457539 55457539 + Silent SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:55457539C>T ENST00000371268.3 + 3 670 c.396C>T c.(394-396)taC>taT p.Y132Y RP11-12C17.2_ENST00000436960.1_RNA NM_182532.1 NP_872338.1 Q8N0U2 TMM61_HUMAN transmembrane protein 61 132 integral to membrane p.Y132Y(1) endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 4 TCCCCACTTACGAGGAAGCCG 0.627000 10 140 0 0 1 0 0 TCEAL6 158931 broad.mit.edu 37 X 101395981 101395981 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chrX:101395981C>T ENST00000372774.3 - 3 572 c.323G>A c.(322-324)cGg>cAg p.R108Q TCEAL6_ENST00000372773.1_Missense_Mutation_p.R108Q NM_001006938.2 NP_001006939.2 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.R108Q(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 TTTTGCTTTCCGGGGCACATA 0.602000 28 98 0 0 1 0 0 SNX18 112574 broad.mit.edu 37 5 53814839 53814839 + Missense_Mutation SNP A A T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr5:53814839A>T ENST00000343017.6 + 1 1251 c.1057A>T c.(1057-1059)Agg>Tgg p.R353W SNX18_ENST00000381410.4_Missense_Mutation_p.R353W|SNX18_ENST00000326277.3_Missense_Mutation_p.R353W NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 353 PX. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding p.R353W(3) endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) CTCTAAGCGCAGGAAGGGCCT 0.652000 7 64 0 0 1 0 0 RNLS 55328 broad.mit.edu 37 10 90342915 90342915 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr10:90342915C>T ENST00000371947.3 - 1 1372 c.33G>A c.(31-33)atG>atA p.M11I RNLS_ENST00000331772.4_Missense_Mutation_p.M11I|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.M11I NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 11 extracellular region oxidoreductase activity p.M11I(1) breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 AGCTTCCTGTCATCCCGGCGC 0.647000 OREG0020353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 75 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 59 0 0 1 0 0 HNRNPLL 92906 broad.mit.edu 37 2 38818746 38818746 + Silent SNP G G C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr2:38818746G>C ENST00000449105.2 - 2 573 c.234C>G c.(232-234)gtC>gtG p.V78V HNRNPLL_ENST00000409636.1_Silent_p.V73V|HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000358367.4_Silent_p.V78V|HNRNPLL_ENST00000409328.1_Silent_p.V78V NM_138394.3 NP_612403.2 heterogeneous nuclear ribonucleoprotein L-like p.V78V(1)|p.V73V(1) CTCGAACATGGACGACGGGTG 0.433000 17 123 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 5 34 0 0 1 0 0 CTD-2311B13.7 0 broad.mit.edu 37 14 19969244 19969244 + RNA SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr14:19969244T>C ENST00000547399.1 - 0 3048 CTAATTTTTCTATTGCCTGCA 0.274000 2 1 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8235132 8235132 + Silent SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr4:8235132G>A ENST00000539824.1 + 14 3320 c.2946G>A c.(2944-2946)ggG>ggA p.G982G SH3TC1_ENST00000245105.3_Silent_p.G1058G Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1058 binding p.G1058G(1) NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GAAGTCTGGGGATTTTCATTG 0.537000 6 34 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160949 38160949 + Missense_Mutation SNP T T A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr19:38160949T>A ENST00000358582.4 - 4 849 c.101A>T c.(100-102)gAa>gTa p.E34V ZNF781_ENST00000590008.1_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E34V(1) NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 TATCTGACATTCATAGGGTTT 0.383000 21 290 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65147750 65147750 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:65147750C>T ENST00000371073.2 + 26 3547 c.3547C>T c.(3547-3549)Cgc>Tgc p.R1183C CACHD1_ENST00000290039.5_Missense_Mutation_p.R1132C|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1183 calcium ion transport integral to membrane p.R1132C(2) breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGAAAGAAGGCGCCGCTACTG 0.493000 4 59 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3721914 3721914 + Missense_Mutation SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:3721914T>C ENST00000324932.7 - 24 4088 c.3668A>G c.(3667-3669)aAt>aGt p.N1223S NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S|NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1240 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity p.N1223S(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AACTCCCAGATTGGGGACAAT 0.418000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 5 94 0 0 1 0 0 GPR183 1880 broad.mit.edu 37 13 99948335 99948335 + Missense_Mutation SNP T T G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr13:99948335T>G ENST00000376414.4 - 2 148 c.65A>C c.(64-66)gAc>gCc p.D22A UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron NM_004951.4 NP_004942.1 P32249 GP183_HUMAN G protein-coupled receptor 183 22 humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.D22A(1) cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 23 TGCATAGAGGTCACAGTCATT 0.478000 7 96 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33462276 33462276 + Silent SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr17:33462276C>T ENST00000586869.1 - 9 1349 c.330G>A c.(328-330)agG>agA p.R110R NLE1_ENST00000360831.5_Silent_p.R360R|NLE1_ENST00000442241.4_Silent_p.R402R Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 402 nucleolus p.R402R(2) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) ACTTGCCCGTCCTGCCATCCC 0.567000 9 80 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66205253 66205253 + Silent SNP A A T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr6:66205253A>T ENST00000503581.1 - 4 588 c.51T>A c.(49-51)tcT>tcA p.S17S EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000370616.2_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S|EYS_ENST00000370621.3_Silent_p.S17S NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 17 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CATTTATGAAAGAGCTGTGAA 0.378000 16 95 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 309488 309488 + Missense_Mutation SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr16:309488A>G ENST00000399932.3 + 4 726 c.275A>G c.(274-276)tAt>tGt p.Y92C ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 92 integral to membrane p.Y92C(1) central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TCAGTTATCTATGACTTTCTG 0.453000 19 369 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108032027 108032027 + Silent SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:108032027A>G ENST00000278612.8 - 17 3891 c.3786T>C c.(3784-3786)agT>agC p.S1262S NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1262 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity p.S1262S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) GTAAATCACTACTATCAGCAA 0.438000 6 234 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 5 27 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138378219 138378219 + Silent SNP C C T rs149069756 TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr9:138378219C>T ENST00000356818.2 + 4 2412 c.1863C>T c.(1861-1863)gcC>gcT p.A621A PPP1R26_ENST00000401470.3_Silent_p.A621A|PPP1R26_ENST00000605660.1_Silent_p.A621A|PPP1R26_ENST00000605286.1_Silent_p.A621A|PPP1R26_ENST00000604351.1_Silent_p.A621A|PPP1R26_ENST00000602993.1_Intron NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 621 nucleolus protein binding p.A621A(1) GCCAGGATGCCGACCACAGCC 0.647000 5 62 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682861 140682861 + Missense_Mutation SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr5:140682861T>C ENST00000239451.4 - 1 751 c.572A>G c.(571-573)tAt>tGt p.Y191C NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 191 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity p.Y191C(1) breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) GCTCAGTTCATAGCCACCAAA 0.458000 12 122 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68948183 68948183 + Missense_Mutation SNP C C G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:68948183C>G ENST00000456315.2 - 8 1422 c.1308G>C c.(1306-1308)gaG>gaC p.E436D DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 436 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding p.E436D(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CACTGGATGCCTCTTTACTTG 0.373000 9 227 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 48994016 48994016 + Silent SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr4:48994016T>C ENST00000226432.4 + 4 603 c.420T>C c.(418-420)taT>taC p.Y140Y CWH43_ENST00000513409.1_Silent_p.Y113Y NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 140 GPI anchor biosynthetic process integral to membrane p.Y140Y(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GCATATGGTATACTTCACTAA 0.368000 13 111 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7221921 7221921 + Missense_Mutation SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr17:7221921A>G ENST00000399464.2 - 23 3772 c.3757T>C c.(3757-3759)Tct>Cct p.S1253P NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 p.S1253P(1)|p.S1251P(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGCCCCCCAGAGCTGTCCAGC 0.617000 8 63 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19955124 19955124 + Missense_Mutation SNP C C G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:19955124C>G ENST00000396085.1 + 7 1695 c.1334C>G c.(1333-1335)gCc>gGc p.A445G NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000396087.3_Missense_Mutation_p.A468G|NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000527559.2_Missense_Mutation_p.A397G NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 468 nucleus ATP binding|helicase activity p.A468G(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CTGGAGGCCGCCAGTCGCATG 0.647000 4 60 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451489 138451489 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr4:138451489G>A ENST00000344876.4 - 1 2140 c.1754C>T c.(1753-1755)aCg>aTg p.T585M PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 585 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T585M(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GATTTCTGCCGTATTATTACG 0.468000 9 425 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48811034 48811034 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr8:48811034G>A ENST00000314191.2 - 29 3516 c.3460C>T c.(3460-3462)Ccg>Tcg p.P1154S PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P1154S NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1154 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.P1154S(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ACCTACCGCGGCAAACGTCGT 0.403000 Non-homologous end-joining 3 7 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39262558 39262558 + Silent SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr13:39262558T>C ENST00000280481.7 + 1 1293 c.1077T>C c.(1075-1077)ctT>ctC p.L359L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 359 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.L359L(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCTTCAACCTTACTTCTCCAT 0.572000 5 79 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181724376 181724376 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:181724376G>A ENST00000526775.1 + 27 3940 c.3775G>A c.(3775-3777)Gtc>Atc p.V1259I CACNA1E_ENST00000367567.4_Missense_Mutation_p.V885I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1229I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1210I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1278I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1278I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1259I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1278 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.V1278I(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCCACAGGCCGTCTTCGACTG 0.517000 4 90 0 0 1 0 0 PROZ 8858 broad.mit.edu 37 13 113825982 113825982 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr13:113825982G>A ENST00000342783.4 + 9 839 c.832G>A c.(832-834)Gac>Aac p.D278N PROZ_ENST00000375547.2_Missense_Mutation_p.D256N NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 256 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity p.D256N(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) GTATGACGCGGACGCGGGGGA 0.562000 9 129 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94495690 94495690 + Silent SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr9:94495690C>T ENST00000375708.3 - 6 849 c.651G>A c.(649-651)acG>acA p.T217T ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.T77T NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 217 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.T217T(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCGACAGGTGCGTAGACGTGC 0.647000 3 34 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47325287 47325287 + RNA SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:47325287T>C ENST00000505841.1 - 0 1204 NR_002788.2 AATCCAAACATAGCTGCATTG 0.388000 3 55 0 0 1 0 0 CRK 1398 broad.mit.edu 37 17 1359240 1359240 + Missense_Mutation SNP A A C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr17:1359240A>C ENST00000300574.2 - 1 312 c.172T>G c.(172-174)Tcc>Gcc p.S58A CRK_ENST00000572145.1_Intron|CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000398970.5_Missense_Mutation_p.S58A NM_016823.3 NP_058431.2 P46108 CRK_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog 58 SH2. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane protein binding|SH2 domain binding p.S58A(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) ATGTAGTGGGAGACGCGCGAG 0.731000 7 40 0 0 1 0 0 LDOC1L 84247 broad.mit.edu 37 22 44892839 44892839 + Nonsense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr22:44892839G>A ENST00000341255.3 - 2 1107 c.598C>T c.(598-600)Cga>Tga p.R200* NM_032287.2 NP_115663.2 Q6ICC9 LDOCL_HUMAN leucine zipper, down-regulated in cancer 1-like 200 p.R200*(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2) 11 Ovarian(80;0.024)|all_neural(38;0.0416) LUAD - Lung adenocarcinoma(64;0.0161) TGCCTCTCTCGCACAGCCCTA 0.647000 11 63 0 0 1 0 0 ETFA 2108 broad.mit.edu 37 15 76584842 76584842 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr15:76584842G>A ENST00000557943.1 - 4 361 c.281C>T c.(280-282)cCa>cTa p.P94L ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.P45L NM_000126.3 NP_000117.1 P13804 ETFA_HUMAN electron-transfer-flavoprotein, alpha polypeptide 94 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity p.P94L(1) endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 CAAAATCAATGGTGTCAGTTC 0.338000 7 102 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768455 117768455 + Silent SNP C C T rs9658278 by1000genomes TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr12:117768455C>T ENST00000317775.6 - 2 1105 c.420G>A c.(418-420)ccG>ccA p.P140P NOS1_ENST00000344089.3_Silent_p.P140P|NOS1_ENST00000338101.4_Silent_p.P140P NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 140 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.P140P(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTTTGCCGGCCGGTGGCTGGT 0.662000 11 101 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40772246 40772246 + Missense_Mutation SNP C C A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr9:40772246C>A ENST00000602553.1 - 5 3323 c.3029G>T c.(3028-3030)aGa>aTa p.R1010I ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.R1010I Q5TYW1 ZN658_HUMAN zinc finger protein 658 1010 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R1010I(1) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CTGGTGTACTCTGAGAGTTGA 0.443000 33 146 4.31865e-32 4.38408e-32 1 1 0 SCARA5 286133 broad.mit.edu 37 8 27762295 27762295 + Missense_Mutation SNP T T G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr8:27762295T>G ENST00000524352.1 - 7 1535 c.1153A>C c.(1153-1155)Agt>Cgt p.S385R SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R|SCARA5_ENST00000380385.2_Splice_Site_p.S160_splice|SCARA5_ENST00000354914.3_Splice_Site_p.S385_splice|RP11-597M17.1_ENST00000517735.1_RNA Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 385 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity p.S385R(1) central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) ATGTCCTTACTGGCATCCCCA 0.532000 6 51 0 0 1 0 0 TXLNA 200081 broad.mit.edu 37 1 32657918 32657918 + Missense_Mutation SNP G G C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:32657918G>C ENST00000373609.1 + 6 1251 c.970G>C c.(970-972)Gac>Cac p.D324H TXLNA_ENST00000373610.3_Missense_Mutation_p.D324H P40222 TXLNA_HUMAN taxilin alpha 324 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding p.D324H(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCAGCATATCGACAAAGTCTT 0.587000 12 128 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675944 100675944 + Missense_Mutation SNP T T A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr7:100675944T>A ENST00000306151.4 + 3 1311 c.1247T>A c.(1246-1248)aTt>aAt p.I416N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 416 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.I416N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTTCAACAATTCCTGTTGAC 0.458000 7 276 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135369308 135369308 + Missense_Mutation SNP C C T rs150742469 TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr10:135369308C>T ENST00000368517.3 - 10 725 c.587G>A c.(586-588)cGc>cAc p.R196H SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.R232H|SYCE1_ENST00000432597.2_Missense_Mutation_p.R196H NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 232 cell division central element p.R232H(2)|p.R196H(2) breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CTCCTGGCTGCGGAGAAAGAG 0.642000 6 105 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 43 0 0 1 0 0 DBC1 0 broad.mit.edu 37 9 121971070 121971070 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr9:121971070G>A ENST00000265922.3 - 7 1533 c.1072C>T c.(1072-1074)Cgc>Tgc p.R358C DBC1_ENST00000482797.1_5'UTR NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 358 R -> H (common polymorphism; dbSNP:rs17476783). cell cycle arrest|cell death cytoplasm protein binding p.R358C(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CGGGCAGTGCGTTGGATCTTT 0.577000 7 87 0 0 1 0 0 RASSF2 9770 broad.mit.edu 37 20 4770305 4770305 + Silent SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr20:4770305G>A ENST00000379400.3 - 8 771 c.576C>T c.(574-576)aaC>aaT p.N192N RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.N192N NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 192 Ras-associating. cell cycle|signal transduction nucleus protein binding p.N192N(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TGATGCGGACGTTGGTGACAG 0.542000 7 66 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94857934 94857934 + Missense_Mutation SNP C C G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr5:94857934C>G ENST00000358746.2 - 19 2133 c.1835G>C c.(1834-1836)gGa>gCa p.G612A NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 612 binding p.G612A(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TGTGTAGCCTCCTCTGCTTAA 0.413000 19 137 0 0 1 0 0 TRMT44 152992 broad.mit.edu 37 4 8467202 8467202 + Missense_Mutation SNP G G C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr4:8467202G>C ENST00000389737.4 + 8 1408 c.1408G>C c.(1408-1410)Gaa>Caa p.E470Q TRMT44_ENST00000513449.2_Missense_Mutation_p.E229Q NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) p.E470Q(1)|p.E78Q(1) TCAGTACCGGGAATACCTTGA 0.473000 5 126 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12502821 12502821 + Missense_Mutation SNP A A G rs2902319 TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr19:12502821A>G ENST00000419318.1 - 4 1044 c.295T>C c.(295-297)Tat>Cat p.Y99H CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H Q96GE5 ZN799_HUMAN zinc finger protein 799 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y131H(1) breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TGATACTCATATGGTTTGTGC 0.448000 4 181 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2140788 2140788 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr16:2140788C>T ENST00000262304.4 - 44 12233 c.12025G>A c.(12025-12027)Gtg>Atg p.V4009M PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4009 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.V4009M(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CACTGGCGCACGAAGCGTAGC 0.672000 14 78 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46493536 46493539 + Splice_Site DEL GTAA GTAA - TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:46493536_46493539delGTAA ENST00000361297.2 + 17 2335 c.e17+1 MAST2_ENST00000372008.1_Splice_Site|MAST2_ENST00000372009.2_Splice_Site NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GGACAAGCAGGTAAGGAAGGGTAG 0.515 9 114 --- --- --- --- RP4-663N10.1 0 broad.mit.edu 37 1 115910207 115910208 + RNA INS - - GT rs60523649 by1000genomes TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:115910207_115910208insGT ENST00000425449.1 + 0 2124_2125 tgtgtgtatcagtgtgtgtgtg 0.391 3 4 --- --- --- --- PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 4 6 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 7 526 --- --- --- ---