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 SATL1 340562 broad.mit.edu 37 X 84363189 84363189 + Silent SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chrX:84363189G>A ENST00000509231.1 - 1 865 c.786C>T c.(784-786)atC>atT p.I262I SATL1_ENST00000395409.3_Silent_p.I75I|SATL1_ENST00000332921.5_Silent_p.I75I Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 75 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 GGCTTGGCTGGATTATACCTG 0.433000 7 335 0 0 0.038147 0 0 ALPP 250 broad.mit.edu 37 2 233244328 233244328 + Missense_Mutation SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr2:233244328C>T ENST00000392027.2 + 4 684 c.415C>T c.(415-417)Cgc>Tgc p.R139C NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 139 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TGCAGCCGCCCGCTTTAACCA 0.607000 3 31 0 0 0.004672 0 0 BEND2 139105 broad.mit.edu 37 X 18221653 18221653 + Missense_Mutation SNP G G T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chrX:18221653G>T ENST00000380033.4 - 5 1007 c.875C>A c.(874-876)gCc>gAc p.A292D BEND2_ENST00000380030.3_Missense_Mutation_p.A292D NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 292 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AGATGACAAGGCTCTACCTGG 0.418000 13 210 7.03913e-09 8.12207e-09 0.093190 1 0 ARMCX1 51309 broad.mit.edu 37 X 100808652 100808652 + Missense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chrX:100808652G>A ENST00000372829.3 + 4 1110 c.739G>A c.(739-741)Ggt>Agt p.G247S NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 247 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 ACGTGAATTGGGTGGTGTCCC 0.388000 106 198 0 0 0.048971 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678952 37678952 + Missense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr13:37678952G>A ENST00000379800.3 - 1 851 c.442C>T c.(442-444)Cgt>Tgt p.R148C NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 148 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) TTACAGTGACGCCCAGTACCC 0.408000 35 143 0 0 0.069456 0 0 ANGPT4 51378 broad.mit.edu 37 20 861878 861878 + Missense_Mutation SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr20:861878C>T ENST00000381922.3 - 5 989 c.887G>A c.(886-888)cGc>cAc p.R296H ANGPT4_ENST00000546022.1_Missense_Mutation_p.R296H NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 296 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GGCCCCAGAGCGCTGGATCTC 0.562000 11 40 0 0 0.093190 0 0 KCNH7 90134 broad.mit.edu 37 2 163693238 163693238 + Missense_Mutation SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr2:163693238C>T ENST00000332142.5 - 2 215 c.116G>A c.(115-117)tGt>tAt p.C39Y KCNH7_ENST00000328032.4_Missense_Mutation_p.C39Y NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 39 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AATGATGGCACAGTTCTGCAC 0.423000 18 60 0 0 0.038395 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2623 2623 + RNA SNP A A G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chrM:2623A>G ENST00000387347.2 + 0 953 NR_039705.1 ccttaaatagggacctgtatg 0.507000 85 204 0 0 0.048971 0 0 GPHN 10243 broad.mit.edu 37 14 67576892 67576892 + Silent SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr14:67576892G>A ENST00000478722.1 + 14 2450 c.1329G>A c.(1327-1329)cgG>cgA p.R443R GPHN_ENST00000543237.1_Silent_p.R456R|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Silent_p.R410R|GPHN_ENST00000305960.9_Silent_p.R379R NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 410 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) AAGTCATGCGGGTTACAACAG 0.458000 T MLL AL 6 189 0 0 0.029380 0 0 ATG5 9474 broad.mit.edu 37 6 106764041 106764041 + Nonsense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:106764041G>A ENST00000369076.3 - 2 366 c.43C>T c.(43-45)Cga>Tga p.R15* ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15* NM_004849.2 NP_004840.1 Q9H1Y0 ATG5_HUMAN autophagy related 5 15 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding p.R15*(1) endometrium(1)|large_intestine(5)|lung(1)|prostate(1) 8 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) GTTGGAATTCGTCCAAACCAC 0.378000 73 141 0 0 0.048971 0 0 AOC1 26 broad.mit.edu 37 7 150554515 150554515 + Silent SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr7:150554515C>T ENST00000493429.1 + 4 1541 c.957C>T c.(955-957)taC>taT p.Y319Y AOC1_ENST00000360937.4_Silent_p.Y319Y|AOC1_ENST00000467291.1_Silent_p.Y319Y|AOC1_ENST00000416793.2_Silent_p.Y319Y amine oxidase, copper containing 1 CTGTGCTCTACGGCGGCTGGA 0.692000 5 5 0 0 0.069234 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938227 116938227 + Silent SNP A A G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:116938227A>G ENST00000229554.5 + 1 578 c.441A>G c.(439-441)ggA>ggG p.G147G RSPH4A_ENST00000368581.4_Silent_p.G147G|RSPH4A_ENST00000368580.4_Silent_p.G147G NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 147 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGTCAGAAGGAAACACCTTTC 0.458000 Kartagener syndrome 45 68 0 0 0.048971 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 87 47 1.53041e-28 1.82192e-28 0.048971 1 0 HOOK1 51361 broad.mit.edu 37 1 60314160 60314160 + Missense_Mutation SNP G G A rs143143349 TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr1:60314160G>A ENST00000371208.3 + 11 1360 c.1103G>A c.(1102-1104)cGt>cAt p.R368H HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 368 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) AATGCAGCACGTACACAATTA 0.308000 42 20 0 0 0.042209 0 0 DNAH8 1769 broad.mit.edu 37 6 38980113 38980113 + Silent SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:38980113G>A ENST00000359357.3 + 88 13097 c.12843G>A c.(12841-12843)ttG>ttA p.L4281L DNAH8_ENST00000441566.1_Silent_p.L4245L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATCTAAAATTGGCCATTGAAG 0.348000 47 90 0 0 0.048971 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9264 9264 + Missense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chrM:9264G>A ENST00000362079.2 + 1 58 c.58G>A c.(58-60)Ggg>Agg p.20_20insR mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 GACCCCTAACAGGGGCCCTCT 0.488000 9 377 0 0 0.047766 0 0 DNAH5 1767 broad.mit.edu 37 5 13719099 13719099 + Missense_Mutation SNP T T C TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr5:13719099T>C ENST00000265104.4 - 72 12495 c.12391A>G c.(12391-12393)Acc>Gcc p.T4131A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4131 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCTCGGTGGTCATCCAGAGG 0.473000 Kartagener syndrome 54 86 0 0 0.048971 0 0 NPSR1 387129 broad.mit.edu 37 7 34889257 34889257 + Missense_Mutation SNP A A G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr7:34889257A>G ENST00000360581.1 + 9 1234 c.1106A>G c.(1105-1107)gAa>gGa p.E369G NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381539.3_3'UTR|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E303G NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 369 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) TCCAAGCCAGAATTCATCTAG 0.527000 3 88 0 0 0.009096 0 0 FAM50B 26240 broad.mit.edu 37 6 3850199 3850199 + Missense_Mutation SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:3850199C>T ENST00000380274.1 + 1 580 c.154C>T c.(154-156)Cat>Tat p.H52Y FAM50B_ENST00000380272.3_Missense_Mutation_p.H52Y Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 52 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) GTTCTCGGCGCATTACGACGC 0.647000 11 19 0 0 0.093190 0 0 INO80B 83444 broad.mit.edu 37 2 74682279 74682279 + Silent SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr2:74682279G>A ENST00000233331.7 + 1 130 c.36G>A c.(34-36)ggG>ggA p.G12G INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_Silent_p.G12G NM_031288.3 NP_112578.2 Q9C086 IN80B_HUMAN INO80 complex subunit B 12 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 13 GCACCTCTGGGGCTATGGAGG 0.572000 34 115 0 0 0.069456 0 0 ESPNP 0 broad.mit.edu 37 1 17026466 17026466 + RNA SNP C C T rs114606754 by1000genomes TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr1:17026466C>T ENST00000492551.1 - 0 1219 NR_026567.1 GCGGGGCTTGCGGCTGGAGTC 0.736000 3 7 0 0 0.004672 0 0 ATP2B2 491 broad.mit.edu 37 3 10381974 10381974 + Missense_Mutation SNP C C A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr3:10381974C>A ENST00000397077.1 - 20 3629 c.3054G>T c.(3052-3054)caG>caT p.Q1018H ATP2B2_ENST00000360273.2_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000352432.4_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.Q1049H|ATP2B2_ENST00000383800.4_Missense_Mutation_p.Q1018H Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1063 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ACCACATCCACTGGTCCAGCT 0.557000 4 67 0.00024832 0.00027797 0.009096 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 32 62 0 0 0.069456 0 0 TTLL5 23093 broad.mit.edu 37 14 76349031 76349031 + Missense_Mutation SNP A A G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr14:76349031A>G ENST00000298832.9 + 30 3731 c.3526A>G c.(3526-3528)Atc>Gtc p.I1176V TTLL5_ENST00000554510.1_Missense_Mutation_p.I685V|TTLL5_ENST00000557636.1_Missense_Mutation_p.I1191V|TTLL5_ENST00000556893.1_Missense_Mutation_p.I727V NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1176 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TTTGTAGGCAATCTTTGGCAG 0.413000 40 37 0 0 0.048971 0 0 TAF9B 51616 broad.mit.edu 37 X 77394339 77394339 + Splice_Site SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chrX:77394339C>T ENST00000341864.5 - 2 228 c.e2+1 NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 CATTAACTTACGGAAAGCAAA 0.328000 44 72 0 0 0.042209 0 0 ACTN3 89 broad.mit.edu 37 11 66323638 66323638 + RNA SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr11:66323638G>A ENST00000502692.1 + 0 986 ACTN3_ENST00000513398.1_RNA NM_001258371.1 NP_001245300.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 CCCCAAAGCCGGATGAGAAGG 0.602000 47 100 0 0 0.048971 0 0 TMEM255A 55026 broad.mit.edu 37 X 119410865 119410865 + Missense_Mutation SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chrX:119410865C>T ENST00000371369.4 - 7 776 c.550G>A c.(550-552)Gat>Aat p.D184N TMEM255A_ENST00000309720.5_Missense_Mutation_p.D208N|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.D44N NM_001104544.1 NP_001098014.1 transmembrane protein 255A CTGCTGACATCGATGTATTCG 0.587000 5 197 0 0 0.021553 0 0 PCSK6 5046 broad.mit.edu 37 15 101929754 101929754 + Missense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr15:101929754G>A ENST00000348070.1 - 10 1221 c.1222C>T c.(1222-1224)Cgt>Tgt p.R408C PCSK6_ENST00000398181.2_Missense_Mutation_p.R408C|PCSK6_ENST00000358417.3_Missense_Mutation_p.R408C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.R408C|PCSK6_ENST00000331826.7_Missense_Mutation_p.R243C NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 409 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGCGCTGACGCAGATCCGTG 0.582000 38 57 0 0 0.111260 0 0 NEU1 4758 broad.mit.edu 37 6 31830546 31830546 + Missense_Mutation SNP C C A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:31830546C>A ENST00000375631.4 - 1 137 c.8G>T c.(7-9)gGg>gTg p.G3V NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 3 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) GGGTCGCTCCCCAGTCATCTC 0.647000 5 20 4.096e-09 4.8e-09 0.021553 1 0 DNAH5 1767 broad.mit.edu 37 5 13841810 13841810 + Silent SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr5:13841810G>A ENST00000265104.4 - 33 5579 c.5475C>T c.(5473-5475)ttC>ttT p.F1825F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1825 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTGAGCAGGGAAGGATGAAA 0.358000 Kartagener syndrome 7 62 0 0 0.029380 0 0 POTEH 23784 broad.mit.edu 37 22 16287514 16287514 + Silent SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr22:16287514G>A ENST00000343518.6 - 1 423 c.372C>T c.(370-372)gaC>gaT p.D124D NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 124 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TAGCAGAGTCGTCGTGGTCTC 0.607000 40 363 0 0 0.048971 0 0 FAM83A 84985 broad.mit.edu 37 8 124219482 124219482 + Missense_Mutation SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr8:124219482C>T ENST00000518448.1 + 5 2873 c.859C>T c.(859-861)Cgc>Tgc p.R287C FAM83A_ENST00000536633.1_Missense_Mutation_p.R287C|FAM83A_ENST00000522648.1_Missense_Mutation_p.R231C|FAM83A_ENST00000318462.6_Missense_Mutation_p.R287C|FAM83A_ENST00000276699.6_Missense_Mutation_p.R287C|FAM83A_ENST00000546351.1_Missense_Mutation_p.R231C Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 287 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CGAGGAGTTCCGCCACCTCTA 0.672000 11 15 0 0 0.093190 0 0 SLC12A7 10723 broad.mit.edu 37 5 1075520 1075520 + Missense_Mutation SNP C C A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr5:1075520C>A ENST00000264930.5 - 15 1976 c.1933G>T c.(1933-1935)Gct>Tct p.A645S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 645 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) ATGCAGCCAGCGATGAGCATG 0.637000 3 34 0.004672 0.00493521 0.004672 1 0 C2 717 broad.mit.edu 37 6 31913064 31913064 + Missense_Mutation SNP T T G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:31913064T>G ENST00000299367.5 + 18 2465 c.2189T>G c.(2188-2190)aTc>aGc p.I730S C2_ENST00000469372.1_Missense_Mutation_p.I484S|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.I598S|CFB_ENST00000556679.1_Intron|C2_ENST00000468407.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.I516S NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) GACTTTCACATCAATCTCTTC 0.592000 44 81 0 0 0.048971 0 0 ZNF483 158399 broad.mit.edu 37 9 114304161 114304161 + Missense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr9:114304161G>A ENST00000309235.5 + 6 1104 c.946G>A c.(946-948)Gac>Aac p.D316N ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 316 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 AGAAACTTCAGACTTAATTAA 0.398000 11 264 0 0 0.069234 0 0 IGHG1 0 broad.mit.edu 37 14 106208372 106208372 + RNA SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr14:106208372C>T ENST00000390548.2 - 0 527 TGTACTGCTCCTCCCGCGGCT 0.577000 10 211 0 0 0.058154 0 0 HK1 3098 broad.mit.edu 37 10 71136809 71136809 + Missense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr10:71136809G>A ENST00000448642.2 + 13 1489 c.1100G>A c.(1099-1101)gGg>gAg p.G367E HK1_ENST00000360289.2_Missense_Mutation_p.G320E|HK1_ENST00000298649.3_Missense_Mutation_p.G331E|HK1_ENST00000359426.6_Missense_Mutation_p.G332E|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.G336E P19367 HXK1_HUMAN hexokinase 1 332 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 CTCACCCGAGGGAAGTTTAAC 0.542000 5 124 0 0 0.029380 0 0 KMT2A 4297 broad.mit.edu 37 11 118380710 118380710 + Missense_Mutation SNP A A G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr11:118380710A>G ENST00000534358.1 + 30 10971 c.10948A>G c.(10948-10950)Atg>Gtg p.M3650V KMT2A_ENST00000389506.5_Missense_Mutation_p.M3647V|KMT2A_ENST00000354520.4_Missense_Mutation_p.M3609V NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CTCCCCACTGATGCTTTGGCT 0.398000 6 91 0 0 0.038147 0 0 PHIP 55023 broad.mit.edu 37 6 79650981 79650981 + Nonsense_Mutation SNP G G C TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:79650981G>C ENST00000275034.4 - 40 5062 c.4895C>G c.(4894-4896)tCa>tGa p.S1632* PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1632 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CACAAGTTTTGATGGCTGTCC 0.398000 6 178 0 0 0.021553 0 0 DIEXF 27042 broad.mit.edu 37 1 210016932 210016932 + Missense_Mutation SNP C C G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr1:210016932C>G ENST00000491415.2 + 11 1975 c.1918C>G c.(1918-1920)Cac>Gac p.H640D NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 640 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 GAATTTTACCCACATCTGCGA 0.458000 15 52 0 0 0.020292 0 0 SCAF8 22828 broad.mit.edu 37 6 155143450 155143450 + Silent SNP G G T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:155143450G>T ENST00000367178.3 + 16 2409 c.1833G>T c.(1831-1833)acG>acT p.T611T SCAF8_ENST00000367186.4_Silent_p.T677T|SCAF8_ENST00000417268.1_Silent_p.T611T NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 611 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TTAAAGAGACGGTCCAGACAA 0.433000 7 151 0.0381472 0.0397367 0.038147 1 0 UGGT2 55757 broad.mit.edu 37 13 96489363 96489363 + Nonsense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr13:96489363G>A ENST00000376747.3 - 37 4448 c.4378C>T c.(4378-4380)Caa>Taa p.Q1460* NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1460 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TTGGCTCTTTGTTTGGATTCA 0.358000 21 46 0 0 0.069288 0 0 AVPR1A 0 broad.mit.edu 37 12 63543713 63543713 + Missense_Mutation SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr12:63543713C>T ENST00000299178.2 - 1 1009 c.904G>A c.(904-906)Gtc>Atc p.V302I NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 302 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GCCCAGCAGACGATGTAAGCC 0.567000 6 142 0 0 0.029380 0 0 STK38 11329 broad.mit.edu 37 6 36489539 36489539 + Missense_Mutation SNP C C A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:36489539C>A ENST00000229812.7 - 5 647 c.362G>T c.(361-363)cGt>cTt p.R121L NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 121 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity p.R121L(1) NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATCTGCTTTACGGAGTATTTT 0.338000 64 133 1.21705e-43 1.47224e-43 0.048971 1 0 KRT9 3857 broad.mit.edu 37 17 39725736 39725736 + Missense_Mutation SNP T T A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr17:39725736T>A ENST00000246662.4 - 4 1051 c.986A>T c.(985-987)gAg>gTg p.E329V KRT9_ENST00000588431.1_Missense_Mutation_p.E96V NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 329 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) CTGCTCATACTCCTGACGCAT 0.498000 30 46 0 0 0.045705 0 0 CDH19 28513 broad.mit.edu 37 18 64218460 64218460 + Missense_Mutation SNP G G T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr18:64218460G>T ENST00000262150.2 - 5 938 c.646C>A c.(646-648)Ctg>Atg p.L216M CDH19_ENST00000540086.1_Missense_Mutation_p.L216M NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 216 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TCATCTTGCAGTTCTCTATCC 0.308000 7 162 0.00307968 0.00334748 0.038147 1 0 IKZF3 22806 broad.mit.edu 37 17 37985663 37985663 + Missense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr17:37985663G>A ENST00000346872.3 - 3 201 c.140C>T c.(139-141)gCc>gTc p.A47V IKZF3_ENST00000377952.2_Missense_Mutation_p.A47V|IKZF3_ENST00000377945.3_Missense_Mutation_p.A47V|IKZF3_ENST00000350532.3_Missense_Mutation_p.A47V|IKZF3_ENST00000351680.3_Missense_Mutation_p.A47V|IKZF3_ENST00000377958.2_Missense_Mutation_p.A47V|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.A47V|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.A47V|IKZF3_ENST00000394189.2_Missense_Mutation_p.A47V|IKZF3_ENST00000377944.3_Missense_Mutation_p.A47V|IKZF3_ENST00000346243.3_Missense_Mutation_p.A47V NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 47 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATCTTCATTGGCTGGGCCTTC 0.403000 5 89 0 0 0.014758 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412203 139412203 + Splice_Site SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr9:139412203C>T ENST00000277541.6 - 8 1517 c.e8+1 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCGACGCACCGGGCATGCA 0.667000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 60 0 0 0.047766 0 0 FUBP1 8880 broad.mit.edu 37 1 78430845 78430845 + Nonsense_Mutation SNP C C A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr1:78430845C>A ENST00000370767.1 - 8 631 c.544G>T c.(544-546)Gga>Tga p.G182* FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G203*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.G182* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 182 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TTTCCCGGTCCATCGCCATGA 0.408000 """F, N""" oligodendroglioma 8 122 4.68919e-08 5.32862e-08 0.069234 1 0 MSTN 2660 broad.mit.edu 37 2 190927295 190927295 + Missense_Mutation SNP T T G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr2:190927295T>G ENST00000260950.4 - 1 160 c.28A>C c.(28-30)Att>Ctt p.I10L C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 10 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) AACAGGTAAATATAAACACAG 0.323000 40 82 0 0 0.048971 0 0 OR1S1 219959 broad.mit.edu 37 11 57982676 57982676 + Missense_Mutation SNP G G A rs117920455 by1000genomes TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr11:57982676G>A ENST00000309433.6 + 1 460 c.460G>A c.(460-462)Ggc>Agc p.G154S NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) GCCCAGGTTCGGCATTTTGCT 0.463000 6 280 0 0 0.029380 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 3 109 0 0 0.004672 0 0 NPM3 10360 broad.mit.edu 37 10 103541522 103541522 + Missense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr10:103541522G>A ENST00000370110.5 - 5 530 c.508C>T c.(508-510)Cct>Tct p.P170S NPM3_ENST00000474993.1_5'UTR NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 170 nucleic acid binding p.P170S(1) large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TTTTTGGCAGGAAGGATGGGG 0.582000 OREG0020469 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 367 0 0 0.029380 0 0 LRRC7 57554 broad.mit.edu 37 1 70452024 70452024 + Missense_Mutation SNP C C T TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr1:70452024C>T ENST00000310961.5 + 11 1205 c.787C>T c.(787-789)Ctc>Ttc p.L263F LRRC7_ENST00000035383.5_Missense_Mutation_p.L258F|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 258 centrosome|focal adhesion|nucleolus protein binding p.L258I(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCTTGAGGACCTCTTATTGTC 0.328000 25 19 0 0 0.091800 0 0 AGMAT 79814 broad.mit.edu 37 1 15904231 15904231 + Silent SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr1:15904231G>A ENST00000375826.3 - 5 991 c.849C>T c.(847-849)gcC>gcT p.A283A DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 283 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) CTGGCGCATAGGCAGGATCCA 0.527000 5 59 0 0 0.021553 0 0 MIR146A 0 broad.mit.edu 37 5 159912436 159912436 + RNA SNP G G C TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr5:159912436G>C ENST00000385201.1 + 0 78 NR_029701.1 CAGTTCTTCAGCTGGGATATC 0.468000 22 33 0 0 0.076483 0 0 FNDC9 408263 broad.mit.edu 37 5 156770036 156770036 + Missense_Mutation SNP T T C TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr5:156770036T>C ENST00000312349.4 - 2 696 c.509A>G c.(508-510)cAg>cGg p.Q170R CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 170 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 TTCCTCCCTCTGACCAAGATC 0.612000 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 82 0 0 0.048971 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98774903 98774903 + Missense_Mutation SNP G G C TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr9:98774903G>C ENST00000407474.3 + 4 1527 c.1014G>C c.(1012-1014)aaG>aaC p.K338N Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 73 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding CAGAAACTAAGAAATCACCTG 0.368000 44 51 0 0 0.048971 0 0 XPO4 64328 broad.mit.edu 37 13 21381759 21381759 + Missense_Mutation SNP C C G TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr13:21381759C>G ENST00000400602.2 - 13 1689 c.1654G>C c.(1654-1656)Gat>Cat p.D552H XPO4_ENST00000255305.6_Missense_Mutation_p.D552H NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 552 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TGAGTATCATCAGCTAAGAGG 0.289000 5 118 0 0 0.021553 0 0 SERBP1 26135 broad.mit.edu 37 1 67895672 67895675 + Splice_Site DEL TTCT TTCT - TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr1:67895672_67895675delTTCT ENST00000370994.4 - 1 423_426 c.313_splice c.e1+1 p.KE103_splice SERBP1_ENST00000370995.2_Splice_Site_p.KE103_splice|SERBP1_ENST00000361219.6_Splice_Site_p.KE103_splice|SERBP1_ENST00000370990.5_Splice_Site_p.KE103_splice NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 103 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 CTGCTTTACCTTCTTTCTTAAGCG 0.632 36 108 --- --- --- --- UBR3 130507 broad.mit.edu 37 2 170929938 170929940 + Splice_Site DEL GAA GAA - TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr2:170929938_170929940delGAA ENST00000272793.5 + 36 5070_5072 c.5019_splice c.e36-1 p.E1677_splice UBR3_ENST00000418381.1_Splice_Site_p.E1677_splice|UBR3_ENST00000392631.1_Splice_Site_p.E498_splice Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1677 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TGTCTAAAAGGAAGAAGAAGAAT 0.379 8 206 --- --- --- --- APPL1 26060 broad.mit.edu 37 3 57302495 57302498 + Frame_Shift_Del DEL AAAC AAAC - TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr3:57302495_57302498delAAAC ENST00000288266.3 + 21 2110_2113 c.1963_1966delAAAC c.(1963-1968)aafs p.KQ657fs ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 657 apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) agaactcaataaacaaaaacagat 0.314 18 42 --- --- --- --- GPR151 134391 broad.mit.edu 37 5 145895373 145895374 + Frame_Shift_Del DEL TT TT - TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr5:145895373_145895374delTT ENST00000311104.2 - 1 379_380 c.303_304delAA c.(301-306)aagtfs p.KS101fs NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 101 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCAAACACTTTTGGAGTACG 0.515 7 131 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157521872 157521872 + Frame_Shift_Del DEL C C - TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr6:157521872delC ENST00000346085.5 + 18 4145 c.4144delC c.(4144-4146)ccfs p.P1383fs ARID1B_ENST00000275248.4_Frame_Shift_Del_p.P1365fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.P1423fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.P1370fs NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1370 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CATGTACGGGCCCCCAGCCAA 0.507 22 164 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113259317 113259319 + In_Frame_Del DEL AGA AGA - TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr8:113259317_113259319delAGA ENST00000297405.5 - 64 10396_10398 c.10152_10154delTCT c.(10150-10155)ctc>ct p.LL3384del CSMD3_ENST00000455883.2_In_Frame_Del_p.LL3215del|CSMD3_ENST00000352409.3_In_Frame_Del_p.LL3314del|CSMD3_ENST00000343508.3_In_Frame_Del_p.LL3344del NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3384 Sushi 27. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGACCCTTGGAGAAGGTGTCCTT 0.399 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 66 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413129 139413131 + In_Frame_Del DEL TCA TCA - TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr9:139413129_139413131delTCA ENST00000277541.6 - 6 1086_1088 c.1011_1013delTGA c.(1009-1014)gac>ga p.DD337del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 337 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCTGGCACAGTCATCAATGTTCT 0.631 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 13 28 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 5 5 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030630 136030631 + RNA INS - - T rs59496527 TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e64f0e-5a56-4e98-a5db-4d44bee595a9 43746417-c404-4b14-8a55-463e79f3a745 g.chrX:136030630_136030631insT ENST00000424306.1 + 0 2052 ccttctcttccttttttttttt 0.465 5 2 --- --- --- ---