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 IGKV1D-42 0 broad.mit.edu 37 2 90229249 90229249 + RNA SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr2:90229249C>A ENST00000390278.2 + 0 89 TCAGATTTGACATCCAGATGA 0.438000 39 16 2.32173e-10 2.49696e-10 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803319 142803319 + RNA SNP A A C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:142803319A>C ENST00000423385.1 - 0 1646 GATGTAAAGCATACACACAAG 0.383000 4 21 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505566 155505566 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr4:155505566C>T ENST00000302053.3 - 6 2389 c.2311G>A c.(2311-2313)Gta>Ata p.V771I NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 771 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCTTCCTCTACGGAACCCTCA 0.532000 5 202 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2916 2916 + RNA SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chrM:2916G>A ENST00000387347.2 + 0 1246 NR_039705.1 AACTTGACCAACGGAACAAGT 0.478000 5 211 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33584366 33584366 + Silent SNP C C T rs139698891 TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr19:33584366C>T ENST00000170564.2 + 4 710 c.396C>T c.(394-396)gcC>gcT p.A132A NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 132 catalytic step 2 spliceosome nucleic acid binding p.A132A(1) breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) GGCAGTTGGCCGCTGCTACTG 0.488000 56 99 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121823678 121823678 + Missense_Mutation SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr8:121823678G>A ENST00000395601.3 - 2 820 c.406C>T c.(406-408)Ccc>Tcc p.P136S SNTB1_ENST00000517992.1_Missense_Mutation_p.P136S|SNTB1_ENST00000519177.1_5'UTR NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 136 PDZ.|PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding p.P136S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) ATGAGGATGGGCATCTTGTTC 0.637000 4 69 0 0 1 0 0 AP000525.9 0 broad.mit.edu 37 22 16150968 16150968 + RNA SNP C C T rs138311033 by1000genomes TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr22:16150968C>T ENST00000447898.1 - 0 1146 CAAATTTGGACTCTTGACTCT 0.403000 5 15 0 0 1 0 0 TRBV5-1 0 broad.mit.edu 37 7 142021350 142021350 + RNA SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr7:142021350C>T ENST00000390381.3 + 0 639 TTTATCTTTGCGCCAGCAGCT 0.547000 20 49 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151672372 151672372 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr6:151672372C>T ENST00000402676.2 + 4 3086 c.2846C>T c.(2845-2847)aCg>aTg p.T949M AKAP12_ENST00000359755.5_Missense_Mutation_p.T844M|AKAP12_ENST00000253332.1_Missense_Mutation_p.T949M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T851M NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 949 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding p.T949M(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GAACCCCCCACGGTTACTGAA 0.527000 5 136 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105922136 105922136 + Missense_Mutation SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr10:105922136G>A ENST00000357060.3 - 25 3387 c.3272C>T c.(3271-3273)cCg>cTg p.P1091L WDR96_ENST00000428666.1_Missense_Mutation_p.P1092L NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1091 p.P1091L(2) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTTGTGCCACGGCTTAATGTG 0.403000 5 182 0 0 1 0 0 KIFC2 90990 broad.mit.edu 37 8 145693004 145693004 + Missense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr8:145693004C>G ENST00000301332.2 + 5 983 c.606C>G c.(604-606)atC>atG p.I202M KIFC2_ENST00000301331.5_5'UTR NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 202 Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.I202M(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AGCAGCTCATCCTGGGACAGG 0.647000 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 61 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4016225 4016225 + Missense_Mutation SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr16:4016225G>A ENST00000294016.3 - 11 4151 c.3613C>T c.(3613-3615)Cgc>Tgc p.R1205C NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1205 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.R1205C(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ACCTGGATGCGGCACTCCACG 0.597000 7 176 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898608 6898608 + Missense_Mutation SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr11:6898608G>A ENST00000379829.2 + 1 753 c.730G>A c.(730-732)Gcc>Acc p.A244T NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A244T(2) kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACCTGTTCCGCCCACCTCTT 0.527000 15 157 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20119232 20119232 + Missense_Mutation SNP A A G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr11:20119232A>G ENST00000396085.1 + 32 6492 c.6131A>G c.(6130-6132)gAg>gGg p.E2044G NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G|NAV2_ENST00000396087.3_Missense_Mutation_p.E2100G|NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2100 nucleus ATP binding|helicase activity p.E2100G(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 GAAACACCGGAGCTGCTTCCT 0.493000 8 135 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8113637 8113637 + Silent SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr18:8113637C>A ENST00000332175.8 + 12 3047 c.2010C>A c.(2008-2010)ctC>ctA p.L670L PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000444013.1_Silent_p.L457L|PTPRM_ENST00000580170.1_Silent_p.L670L NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 670 Fibronectin type-III 4. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity p.L670L(2) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CAGACAGCCTCCAAGCTGCGC 0.423000 93 114 1.42479e-40 1.56178e-40 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139278045 139278045 + Silent SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr8:139278045G>A ENST00000395297.1 - 4 368 c.198C>T c.(196-198)acC>acT p.T66T NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 66 p.T66T(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGCTGTGCACGGTGCTGTCAT 0.502000 HNSCC(54;0.14) 3 78 0 0 1 0 0 FCGR1A 2209 broad.mit.edu 37 1 149760144 149760144 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:149760144C>T ENST00000369168.4 + 4 584 c.530C>T c.(529-531)aCa>aTa p.T177I HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) 177 Ig-like C2-type 2. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 10 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CATCGCTACACATCAGCAGGA 0.413000 5 198 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369914 109369914 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:109369914C>T ENST00000370001.3 - 11 2117 c.1849G>A c.(1849-1851)Gtg>Atg p.V617M AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 617 p.V617M(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TTTTTCTCCACGTTTTGCTTC 0.383000 21 230 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27258872 27258872 + Silent SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr2:27258872G>A ENST00000238788.9 + 5 734 c.672G>A c.(670-672)caG>caA p.Q224Q TMEM214_ENST00000404032.3_Silent_p.Q179Q NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 224 integral to membrane protein binding p.Q224Q(1) kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TCTGTATCCAGGCCATCCTGC 0.517000 18 44 0 0 1 0 0 MLH3 27030 broad.mit.edu 37 14 75515946 75515946 + Missense_Mutation SNP G G C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr14:75515946G>C ENST00000355774.2 - 2 628 c.413C>G c.(412-414)aCt>aGt p.T138S MLH3_ENST00000556740.1_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.T138S|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 138 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.T138S(2) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) GCTTGCTCTAGTCACATCAGC 0.428000 Mismatch excision repair (MMR) 10 186 0 0 1 0 0 GNB3 2784 broad.mit.edu 37 12 6950751 6950751 + Splice_Site SNP A A G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr12:6950751A>G ENST00000229264.3 + 4 464 c.57_splice c.e4-1 p.D20_splice GNB3_ENST00000435982.2_Splice_Site_p.D20_splice NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 20 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity p.D20G(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 TCCCTGCAGGATGCCAGGAAA 0.667000 12 28 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58306075 58306075 + Missense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr15:58306075C>G ENST00000249750.4 - 3 1111 c.344G>C c.(343-345)cGg>cCg p.R115P ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 115 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity p.R115P(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TGCCCTGTCCCGTTCCACCAA 0.458000 19 532 0 0 1 0 0 KIF5B 3799 broad.mit.edu 37 10 32337438 32337438 + Silent SNP T T C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr10:32337438T>C ENST00000302418.4 - 2 625 c.168A>G c.(166-168)acA>acG p.T56T NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 56 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity p.T56T(1) KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) GCTCTTGAGATGTGCTTGACT 0.338000 T """RET, ALK""" NSCLC 5 134 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94420665 94420665 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr14:94420665C>T ENST00000555019.1 - 4 906 c.476G>A c.(475-477)cGa>cAa p.R159Q ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 111 intracellular signal transduction p.R111Q(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCCCTCACCTCGCTGCAGGAC 0.612000 4 76 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24572967 24572967 + Missense_Mutation SNP A A G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr14:24572967A>G ENST00000545054.2 + 10 2233 c.1315A>G c.(1315-1317)Att>Gtt p.I439V PCK2_ENST00000216780.4_Missense_Mutation_p.I573V|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V|NRL_ENST00000561028.1_Intron Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 573 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity p.I573V(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) AGAGACACCCATTGGGCTGGT 0.607000 41 65 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114840901 114840901 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr9:114840901C>T ENST00000374270.3 - 12 1842 c.1670G>A c.(1669-1671)cGt>cAt p.R557H SUSD1_ENST00000374263.3_Missense_Mutation_p.R557H|SUSD1_ENST00000374264.2_Missense_Mutation_p.R557H NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 557 integral to membrane calcium ion binding p.R557H(1) SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GGTACCCGGACGTAGGTCCAA 0.493000 13 122 0 0 1 0 0 MAPRE1 22919 broad.mit.edu 37 20 31427559 31427559 + Nonsense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr20:31427559C>G ENST00000375571.5 + 5 633 c.494C>G c.(493-495)tCa>tGa p.S165* NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 165 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding p.S165*(1) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 AGGCCCATCTCAACACAGAGA 0.527000 12 457 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104897573 104897573 + Missense_Mutation SNP C C T rs148018877 TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr11:104897573C>T ENST00000533400.1 - 8 1147 c.1112G>A c.(1111-1113)cGc>cAc p.R371H CASP1_ENST00000594519.1_Missense_Mutation_p.R230H|CASP1_ENST00000534497.1_Missense_Mutation_p.R230H|CASP1_ENST00000527979.1_Missense_Mutation_p.R334H|CASP1_ENST00000531166.1_Missense_Mutation_p.R55H|CASP1_ENST00000593315.1_Missense_Mutation_p.R350H|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000598974.1_Missense_Mutation_p.R371H|CASP1_ENST00000526568.1_Missense_Mutation_p.R278H|CASP1_ENST00000446369.1_Missense_Mutation_p.R230H|CASP1_ENST00000415981.2_Missense_Mutation_p.R55H|CASP1_ENST00000525825.1_Missense_Mutation_p.R350H|CASP1_ENST00000436863.3_Missense_Mutation_p.R371H|CASP1_ENST00000393136.4_Missense_Mutation_p.R350H|CASP1_ENST00000353247.5_Missense_Mutation_p.R55H NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 371 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding p.R371H(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TCTTACCTTGCGGAAAATTTC 0.408000 8 118 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2415902 2415902 + Missense_Mutation SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:2415902G>A ENST00000449969.1 + 5 741 c.580G>A c.(580-582)Gac>Aac p.D194N PLCH2_ENST00000419816.2_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 221 EF-hand 1. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.D221N(1)|p.D68N(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGACACGGATGACCACCAAGG 0.597000 20 32 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51746689 51746689 + Silent SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr3:51746689C>T ENST00000395052.3 + 3 885 c.651C>T c.(649-651)ggC>ggT p.G217G GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.G217G NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 217 synaptic transmission integral to plasma membrane p.G217G(2) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCGACTATGGCGAGACAGGCA 0.597000 5 122 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71787745 71787745 + Missense_Mutation SNP G G C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chrX:71787745G>C ENST00000439122.2 - 4 717 c.431C>G c.(430-432)gCa>gGa p.A144G HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373573.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 144 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding p.A144G(1) breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) TTACTTCTTTGCATGATGCCA 0.418000 11 122 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118469852 118469852 + Missense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr5:118469852C>G ENST00000311085.8 + 12 2313 c.2233C>G c.(2233-2235)Ctt>Gtt p.L745V DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 745 p.L745V(1) breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GCTGCCCACTCTTATACCCAG 0.383000 8 242 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42259586 42259586 + Missense_Mutation SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr19:42259586C>A ENST00000199764.6 + 1 258 c.40C>A c.(40-42)Ccc>Acc p.P14T CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 14 cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane p.P14T(1) breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) ATTGCATGTCCCCTGGAAGGA 0.607000 5 97 0.184627 0.184627 1 1 0 IRAK2 3656 broad.mit.edu 37 3 10251301 10251301 + Silent SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr3:10251301G>A ENST00000256458.4 + 4 543 c.453G>A c.(451-453)ccG>ccA p.P151P NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 151 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity p.P151P(2) breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 CCCACCAGCCGGCCTTTCTCC 0.597000 7 275 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11991 11991 + Missense_Mutation SNP T T C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chrM:11991T>C ENST00000361381.2 + 1 1232 c.1232T>C c.(1231-1233)tTt>tCt p.411_411insS mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CCTCTACATATTTACCACAAC 0.438000 194 38 0 0 1 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1507384 1507384 + Missense_Mutation SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr19:1507384G>A ENST00000330475.4 - 9 1152 c.709C>T c.(709-711)Cgc>Tgc p.R237C ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.R247C|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.R6C NM_213604.2 NP_998769.2 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 237 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R237C(1) cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCACGTAGCGCCCATCGCCC 0.657000 11 82 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46594935 46594935 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr12:46594935C>T ENST00000398637.5 - 13 1643 c.949G>A c.(949-951)Gcc>Acc p.A317T SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 317 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity p.A317T(1) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) ACAAACATGGCGAAAAAGGAG 0.289000 14 29 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848458 73848458 + Missense_Mutation SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr8:73848458G>A ENST00000523207.1 + 3 1456 c.868G>A c.(868-870)Gtg>Atg p.V290M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 290 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.V290M(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CAACAAGAGCGTGCTGCAGTT 0.502000 9 124 0 0 1 0 0 ARIH1 25820 broad.mit.edu 37 15 72873082 72873082 + Missense_Mutation SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr15:72873082C>A ENST00000379887.4 + 12 1540 c.1226C>A c.(1225-1227)gCa>gAa p.A409E ARIH1_ENST00000562891.1_3'UTR NM_005744.3 NP_005735.2 Q9Y4X5 ARI1_HUMAN ariadne RBR E3 ubiquitin protein ligase 1 409 ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.A409E(4) endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 14 CGATCTAGGGCAGCCCTGCAG 0.383000 8 66 0.0581538 0.0602684 1 1 0 HSPA9 3313 broad.mit.edu 37 5 137893676 137893676 + Splice_Site SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr5:137893676C>A ENST00000297185.3 - 13 1641 c.e13-1 HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GAATTCCAATCTAAAATAAAT 0.388000 4 110 0.00909568 0.009601 1 1 0 GRM1 2911 broad.mit.edu 37 6 146480672 146480672 + Nonsense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr6:146480672C>T ENST00000392299.2 + 3 1359 c.889C>T c.(889-891)Cga>Tga p.R297* GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.R297* Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 297 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R297*(3) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CATGACAGTGCGAGGACTCCT 0.567000 4 61 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48624753 48624753 + Silent SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr3:48624753C>T ENST00000328333.8 - 23 3116 c.3009G>A c.(3007-3009)ccG>ccA p.P1003P COL7A1_ENST00000454817.1_Silent_p.P1003P NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1003 Fibronectin type-III 9.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.P1003P(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAAGTGTCTGCGGGGACCCAG 0.602000 3 31 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85936702 85936702 + Silent SNP T T C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr16:85936702T>C ENST00000268638.5 + 2 503 c.81T>C c.(79-81)atT>atC p.I27I IRF8_ENST00000563180.1_Silent_p.I27I NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 27 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.I27I(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CAGGACTGATTTGGGAGAATG 0.478000 3 74 0 0 1 0 0 RP1-125I3.2 0 broad.mit.edu 37 1 26186960 26186960 + RNA DEL T T - TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:26186960delT ENST00000455431.1 + 0 263 AATTTTGTAATTTTTTTTTTT 0.552 2 4 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142804489 142804490 + RNA INS - - TT TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:142804489_142804490insTT ENST00000423385.1 - 0 475_476 gattaggaagctttttttttta 0.342 3 3 --- --- --- --- AC096559.1 0 broad.mit.edu 37 2 12607549 12607550 + RNA INS - - CTTC rs7571135 TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr2:12607549_12607550insCTTC ENST00000412294.1 + 0 412 ttccttcctatcttccttcctt 0.465 3 3 --- --- --- --- CTD-2152M20.2 0 broad.mit.edu 37 5 32116038 32116039 + RNA INS - - AC rs10690015 by1000genomes TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr5:32116038_32116039insAC ENST00000503441.1 - 0 167 GGAAacacacaacacacacaca 0.436 3 3 --- --- --- --- RP11-1084I9.1 0 broad.mit.edu 37 15 26212944 26212945 + RNA DEL TG TG - rs71418074 TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr15:26212944_26212945delTG ENST00000383019.2 + 0 207 NR_040082.1 tcagctaatttgtgtgtgtgtg 0.525 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113740 26113740 + RNA DEL T T - TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr20:26113740delT ENST00000416563.1 - 0 160 CCAGAAAAAATATGTGAGAGA 0.343 6 4 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73043145 73043145 + RNA DEL T T - TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chrX:73043145delT ENST00000604411.1 + 0 31106 XIST_ENST00000429829.1_lincRNA NR_003255.2 tttttctttcttttttttttt 0.348 4 4 --- --- --- ---