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 CCDC74A 90557 broad.mit.edu 37 2 132287226 132287226 + Missense_Mutation SNP A A G rs147307685 byFrequency TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:132287226A>G ENST00000295171.6 + 2 395 c.257A>G c.(256-258)cAt>cGt p.H86R CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.H86R NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 86 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TCAGATCTCCATTACAAGCTC 0.532000 3 56 0 0 1 0 0 YRDC 79693 broad.mit.edu 37 1 38272777 38272777 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr1:38272777G>A ENST00000373044.2 - 2 504 c.500C>T c.(499-501)aCg>aTg p.T167M C1orf122_ENST00000373043.1_5'UTR NM_024640.3 NP_078916.3 Q86U90 YRDC_HUMAN yrdC N(6)-threonylcarbamoyltransferase domain containing 167 YrdC-like. negative regulation of transport membrane|mitochondrion lung(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACTCACAGGCGTAAAAGGGTT 0.522000 3 46 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89352043 89352043 + Missense_Mutation SNP C C G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr16:89352043C>G ENST00000301030.4 - 9 1367 c.907G>C c.(907-909)Gaa>Caa p.E303Q ANKRD11_ENST00000378330.2_Missense_Mutation_p.E303Q NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 303 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GGTGCGTCTTCCTCTTCTGAG 0.567000 4 53 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159163349 159163349 + Splice_Site SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr1:159163349C>T ENST00000368125.4 + 4 676 c.520_splice c.e4+1 p.H173_splice CADM3_ENST00000368124.4_Splice_Site_p.H207_splice NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 173 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.H207H(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AAGAACTCCACGGTGAGTACC 0.537000 4 42 0 0 1 0 0 CCNJ 54619 broad.mit.edu 37 10 97810164 97810164 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr10:97810164G>A ENST00000265992.5 + 3 588 c.221G>A c.(220-222)cGc>cAc p.R74H CCNJ_ENST00000534974.1_Missense_Mutation_p.R74H|CCNJ_ENST00000465148.2_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA NM_001134375.1|NM_001134376.1|NM_019084.4 NP_001127847.1|NP_001127848.1|NP_061957.2 Q5T5M9 CCNJ_HUMAN cyclin J 74 Cyclin N-terminal. nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) TTTATGGACCGCTATGACATC 0.453000 8 179 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63447901 63447901 + Missense_Mutation SNP A A G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr14:63447901A>G ENST00000322893.7 - 6 899 c.631T>C c.(631-633)Tgt>Cgt p.C211R KCNH5_ENST00000394964.2_Missense_Mutation_p.C153R|KCNH5_ENST00000394968.1_Missense_Mutation_p.C153R|KCNH5_ENST00000420622.2_Missense_Mutation_p.C211R NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 211 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTAAAAGCACAATAATGTAAA 0.363000 3 26 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113853983 113853983 + Silent SNP G G T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr11:113853983G>T ENST00000504030.2 + 5 961 c.516G>T c.(514-516)tcG>tcT p.S172S HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Silent_p.S178S|HTR3A_ENST00000506841.2_Silent_p.S172S|HTR3A_ENST00000355556.2_Silent_p.S178S|HTR3A_ENST00000299961.5_Silent_p.S157S P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 172 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) AGAACTGCTCGCTGACCTTCA 0.587000 15 217 2.39187e-15 2.80646e-15 1 1 0 CCDC82 79780 broad.mit.edu 37 11 96117582 96117582 + Silent SNP T T C TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr11:96117582T>C ENST00000278520.5 - 3 758 c.330A>G c.(328-330)gaA>gaG p.E110E CCDC82_ENST00000423339.2_Silent_p.E110E|CCDC82_ENST00000542662.1_Silent_p.E110E Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 110 protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) TCGTTTCTTCTTCATATGTTG 0.338000 9 91 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57640646 57640646 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr12:57640646G>A ENST00000332782.2 - 6 745 c.544C>T c.(544-546)Cgc>Tgc p.R182C STAC3_ENST00000546246.2_5'UTR|STAC3_ENST00000554578.1_Missense_Mutation_p.R143C NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 182 intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 ACCCCAGTGCGCAGGGTTTCA 0.507000 4 201 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57581134 57581134 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr12:57581134G>A ENST00000243077.3 + 42 7392 c.6926G>A c.(6925-6927)cGc>cAc p.R2309H NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2309 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACCATCACGCGCCACACAGTG 0.602000 3 83 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 3 67 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162517 90162517 + RNA SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr16:90162517C>T ENST00000567960.1 + 0 1253 TUBB8P7_ENST00000564451.1_RNA CATGAATGACCTGGTGTCTGA 0.532000 3 143 0 0 1 0 0 LAMTOR2 28956 broad.mit.edu 37 1 156025148 156025148 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr1:156025148G>A ENST00000368305.4 + 2 301 c.163G>A c.(163-165)Gcc>Acc p.A55T LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A55T|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A55T NM_014017.3 NP_054736.1 Q9Y2Q5 LTOR2_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 55 cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosomal membrane|Ragulator complex breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 CATCTGGGCCGCCTACGACCG 0.567000 3 129 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134968200 134968200 + Missense_Mutation SNP C C T rs143309901 TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr3:134968200C>T ENST00000398015.3 + 15 3083 c.2713C>T c.(2713-2715)Cgc>Tgc p.R905C EPHB1_ENST00000493838.1_Missense_Mutation_p.R466C NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 905 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCTGCTCGACCGCTCCATCCC 0.592000 4 84 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37379473 37379473 + Nonsense_Mutation SNP G G T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr5:37379473G>T ENST00000265107.4 + 1 160 c.4G>T c.(4-6)Gag>Tag p.E2* WDR70_ENST00000504564.1_Nonsense_Mutation_p.E2* NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 2 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCCAGCCATGGAGCGCTCTGG 0.657000 18 236 5.45024e-15 6.3108e-15 1 1 0 XYLT1 64131 broad.mit.edu 37 16 17294398 17294398 + Nonsense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr16:17294398G>A ENST00000261381.6 - 4 1111 c.1027C>T c.(1027-1029)Cag>Tag p.Q343* NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 343 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AACATGCGCTGCAACTGCCGA 0.582000 13 170 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4409410 4409410 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr19:4409410G>A ENST00000301280.5 + 3 715 c.614G>A c.(613-615)cGg>cAg p.R205Q NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 205 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TGTTCGCCACGGAGCTGCCCG 0.597000 Chromatin Structure 31 30 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977561 107977561 + Missense_Mutation SNP C C G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chrX:107977561C>G ENST00000372129.2 - 1 2090 c.2014G>C c.(2014-2016)Gaa>Caa p.E672Q NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 672 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TCTTTCACTTCTTTGGCTTCT 0.498000 33 165 0 0 1 0 0 SEC14L2 23541 broad.mit.edu 37 22 30812287 30812287 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr22:30812287G>A ENST00000312932.9 + 11 1236 c.976G>A c.(976-978)Gag>Aag p.E326K SEC14L2_ENST00000405717.3_Missense_Mutation_p.E326K|SEC14L2_ENST00000403484.1_Missense_Mutation_p.E252K|SEC14L2_ENST00000402592.3_Missense_Mutation_p.E243K|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E160K NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 326 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) CAAGATGGGAGAGAGGCAGCG 0.537000 3 73 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99667831 99667831 + Silent SNP C C A rs112478506 byFrequency TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr10:99667831C>A ENST00000370597.3 - 6 1144 c.789G>T c.(787-789)ggG>ggT p.G263G CRTAC1_ENST00000298819.4_Silent_p.G263G|CRTAC1_ENST00000370591.2_Silent_p.G263G NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 263 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GGAAGTTAGGCCCATTCTCAT 0.612000 3 50 0.115264 0.117945 1 1 0 SUSD5 26032 broad.mit.edu 37 3 33216454 33216454 + Silent SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr3:33216454G>A ENST00000309558.3 - 4 939 c.522C>T c.(520-522)ggC>ggT p.G174G NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 174 Sushi. cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCTCCCGGTGGCCCATGATGT 0.632000 6 105 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69046379 69046379 + Silent SNP G G A rs150877619 TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr8:69046379G>A ENST00000288368.4 + 32 4129 c.3852G>A c.(3850-3852)gcG>gcA p.A1284A NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1284 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGCTCATGGCGGCCTTGAACC 0.502000 4 55 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 36982191 36982191 + Missense_Mutation SNP G G A rs138478832 TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:36982191G>A ENST00000379242.3 + 5 705 c.403G>A c.(403-405)Gtc>Atc p.V135I VIT_ENST00000404084.1_Missense_Mutation_p.V113I|VIT_ENST00000379241.3_Missense_Mutation_p.V135I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Missense_Mutation_p.V135I|VIT_ENST00000457137.2_Missense_Mutation_p.V135I|VIT_ENST00000401530.1_Missense_Mutation_p.V135I NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 135 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) ATCCTTTATCGTCTTAGGTAT 0.443000 4 33 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967994 161967994 + Silent SNP G G A rs34123330 byFrequency TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr1:161967994G>A ENST00000294794.3 - 6 1518 c.1095C>T c.(1093-1095)aaC>aaT p.N365N OLFML2B_ENST00000367940.2_Silent_p.N366N NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 365 p.N365N(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CGGTCCGAGCGTTCAGGTCGC 0.612000 8 158 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83251221 83251221 + Missense_Mutation SNP C C G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr12:83251221C>G ENST00000549919.1 + 3 2303 c.498C>G c.(496-498)ttC>ttG p.F166L TMTC2_ENST00000321196.3_Missense_Mutation_p.F172L|TMTC2_ENST00000548305.1_Missense_Mutation_p.F172L Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 172 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GGGGCTGGTTCCTGGGGTCAG 0.512000 21 20 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723348 142723348 + Missense_Mutation SNP T T C TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr7:142723348T>C ENST00000350513.2 - 1 934 c.872A>G c.(871-873)gAc>gGc p.D291G NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D291V(1) central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) TTTGACTTTGTCATTCCGAAG 0.458000 6 77 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72223614 72223614 + Silent SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr18:72223614C>T ENST00000358821.3 + 2 294 c.66C>T c.(64-66)cgC>cgT p.R22R CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron NM_032649.5 NP_116038.4 Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 22 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TGCTGGAGCGCGGCATGTTCT 0.557000 5 106 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882388 228882388 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:228882388G>A ENST00000392056.3 - 7 3228 c.3182C>T c.(3181-3183)gCg>gTg p.A1061V SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1061V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1061 cytoplasm protein binding p.A1061V(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATAGCCCTGCGCCTGCCACAT 0.557000 9 88 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76573710 76573710 + Silent SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr16:76573710C>T ENST00000307431.8 + 21 3697 c.3312C>T c.(3310-3312)caC>caT p.H1104H CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.H1056H|CNTNAP4_ENST00000476707.1_Silent_p.H1108H|CNTNAP4_ENST00000478060.1_Silent_p.H1032H NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1105 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AACTTCACCACATAATGATTA 0.353000 5 82 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808932 18808932 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr1:18808932G>A ENST00000400664.1 + 1 1509 c.1457G>A c.(1456-1458)cGc>cAc p.R486H NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 486 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATCCTGCAGCGCCGGCTCCGG 0.662000 3 69 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 69 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170341 20170341 + RNA SNP C C A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr15:20170341C>A ENST00000338912.5 - 0 13 CAGGATCCTCCAAGTCCAGCC 0.527000 11 136 3.27435e-08 3.60179e-08 1 1 0 TXNL1 9352 broad.mit.edu 37 18 54291518 54291518 + Splice_Site SNP C C A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr18:54291518C>A ENST00000217515.6 - 3 574 c.e3+1 TXNL1_ENST00000540155.1_Splice_Site|TXNL1_ENST00000590954.1_Splice_Site NM_004786.2 NP_004777.1 O43396 TXNL1_HUMAN thioredoxin-like 1 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) AGTCTACATACATAGCCTTTT 0.338000 4 114 0.000602214 0.000638492 1 1 0 SOGA2 23255 broad.mit.edu 37 18 8824836 8824836 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr18:8824836G>A ENST00000359865.3 + 15 3470 c.3328G>A c.(3328-3330)Gag>Aag p.E1110K SOGA2_ENST00000400050.3_Missense_Mutation_p.E1069K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E435K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1429K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1069K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E435K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1420 CAAGTACATCGAGGAGTTCAA 0.632000 10 96 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 3 44 0 0 1 0 0 MAK 4117 broad.mit.edu 37 6 10802138 10802138 + Missense_Mutation SNP G G T rs149734152 TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr6:10802138G>T ENST00000313243.2 - 8 1200 c.818C>A c.(817-819)cCg>cAg p.P273Q SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.P273Q|MAK_ENST00000538030.1_Missense_Mutation_p.P273Q|MAK_ENST00000536370.1_Missense_Mutation_p.P273Q|MAK_ENST00000354489.2_Missense_Mutation_p.P273Q|RP11-637O19.3_ENST00000480294.1_Intron P20794 MAK_HUMAN male germ cell-associated kinase 273 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) GCTTGCTGTCGGTCGTTTCTT 0.383000 OREG0017187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 99 5.18039e-06 5.62808e-06 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24923472 24923472 + Missense_Mutation SNP A A T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr15:24923472A>T ENST00000329468.2 + 1 2932 c.2458A>T c.(2458-2460)Att>Ttt p.I820F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAAGCCTGCCATTGACACCAG 0.502000 63 96 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764410 138764410 + Missense_Mutation SNP G G T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr7:138764410G>T ENST00000242351.5 - 4 1593 c.1277C>A c.(1276-1278)cCt>cAt p.P426H ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P426H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P426H NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 426 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 ATTAAAAAGAGGGCCAGGCTG 0.448000 7 57 1.26484e-09 1.40894e-09 1 1 0 TEX10 54881 broad.mit.edu 37 9 103092361 103092361 + Silent SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr9:103092361C>T ENST00000374902.4 - 6 1517 c.1341G>A c.(1339-1341)gcG>gcA p.A447A TEX10_ENST00000537512.1_Silent_p.A382A|TEX10_ENST00000535814.1_Silent_p.A450A NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 447 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) GCAAAGTTGACGCATTTGCCA 0.388000 5 93 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18823041 18823041 + Missense_Mutation SNP T T A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr10:18823041T>A ENST00000396576.2 + 10 1427 c.926T>A c.(925-927)cTt>cAt p.L309H CACNB2_ENST00000352115.6_Missense_Mutation_p.L340H|CACNB2_ENST00000377329.4_Missense_Mutation_p.L310H|CACNB2_ENST00000282343.8_Missense_Mutation_p.L336H|CACNB2_ENST00000377315.4_Missense_Mutation_p.L316H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.L271H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.L364H|CACNB2_ENST00000377331.2_Missense_Mutation_p.L312H NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 364 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATTTTTGAACTTGCAAGAACA 0.373000 7 72 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34945807 34945807 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr17:34945807G>A ENST00000304718.4 + 14 2376 c.2060G>A c.(2059-2061)tGt>tAt p.C687Y NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 687 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AGGCCCATTTGTAGTGGCTGG 0.388000 56 70 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324212 62324212 + Missense_Mutation SNP G G A rs143317975 TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr20:62324212G>A ENST00000318100.4 + 29 3534 c.2707G>A c.(2707-2709)Gtg>Atg p.V903M RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 903 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CATGGTGGCCGTGAAGCAGGA 0.642000 3 117 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31348049 31348049 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr14:31348049G>A ENST00000396618.3 + 5 328 c.272G>A c.(271-273)cGa>cAa p.R91Q COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q NM_004086.2 NP_004077.1 O43405 COCH_HUMAN cochlin 91 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GGACCTGTACGAGTCTATAGC 0.458000 4 58 0 0 1 0 0 ATP6V1E2 90423 broad.mit.edu 37 2 46739777 46739777 + Missense_Mutation SNP T T A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:46739777T>A ENST00000306448.4 - 2 1187 c.74A>T c.(73-75)gAg>gTg p.E25V ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E25V NM_080653.3 NP_542384.1 Q96A05 VATE2_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 25 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.151) CTCTGCTTTCTCATTGGCTTC 0.478000 5 57 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7647956 7647956 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr12:7647956G>A ENST00000359156.4 - 6 1343 c.1141C>T c.(1141-1143)Cgc>Tgc p.R381C CD163_ENST00000396620.3_Missense_Mutation_p.R381C|CD163_ENST00000541972.1_Missense_Mutation_p.R369C|CD163_ENST00000432237.2_Missense_Mutation_p.R381C NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 381 SRCR 4. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CCAGCACAGCGGCTGCCTCCA 0.488000 7 62 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157527453 157527453 + Silent SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr6:157527453C>T ENST00000346085.5 + 20 5179 c.5178C>T c.(5176-5178)gaC>gaT p.D1726D ARID1B_ENST00000275248.4_Silent_p.D1708D|ARID1B_ENST00000367148.1_Silent_p.D1766D|ARID1B_ENST00000350026.5_Silent_p.D1713D NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1713 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) CCTTGGCAGACGATTCTGGGA 0.473000 6 141 0 0 1 0 0 ETNPPL 64850 broad.mit.edu 37 4 109668005 109668005 + Missense_Mutation SNP C C A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr4:109668005C>A ENST00000296486.3 - 10 1239 c.1085G>T c.(1084-1086)gGc>gTc p.G362V ETNPPL_ENST00000510706.1_Missense_Mutation_p.G322V|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G304V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G356V NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase AAGGCCAATGCCCCTGCGAGA 0.428000 10 79 2.17888e-05 2.33831e-05 1 1 0 BTNL9 153579 broad.mit.edu 37 5 180486695 180486695 + Missense_Mutation SNP G G T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr5:180486695G>T ENST00000327705.9 + 11 1672 c.1441G>T c.(1441-1443)Gcg>Tcg p.A481S BTNL9_ENST00000376842.3_Missense_Mutation_p.A482S NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 481 B30.2/SPRY. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTCTCGGGCGCGCTCTGTGC 0.667000 3 34 0.00909568 0.00952881 1 1 0 SERPINB2 5055 broad.mit.edu 37 18 61570299 61570299 + Silent SNP A A T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr18:61570299A>T ENST00000457692.1 + 9 1341 c.1008A>T c.(1006-1008)ggA>ggT p.G336G SERPINB2_ENST00000299502.4_Silent_p.G336G NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 336 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TCAACAAGGGACGGGCCAATT 0.478000 4 70 0 0 1 0 0 TTC8 123016 broad.mit.edu 37 14 89307828 89307828 + Silent SNP A A G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr14:89307828A>G ENST00000338104.6 + 5 571 c.519A>G c.(517-519)acA>acG p.T173T TTC8_ENST00000380656.2_Silent_p.T183T|TTC8_ENST00000345383.5_Silent_p.T173T|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000536576.1_Intron Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 183 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGAATTTAACAAAGTATTCCC 0.318000 6 55 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44271798 44271798 + Missense_Mutation SNP T T G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr19:44271798T>G ENST00000262888.3 - 8 1576 c.1181A>C c.(1180-1182)aAa>aCa p.K394T NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 394 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) GTCAATCTGTTTCTCCAGGGC 0.617000 4 138 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 38 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120459 62120459 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr20:62120459G>A ENST00000217182.3 - 7 1241 c.1076C>T c.(1075-1077)cCg>cTg p.P359L EEF1A2_ENST00000298049.7_Missense_Mutation_p.P359L NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 359 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GTCGATGACCGGGGAGTAGCC 0.642000 3 55 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72623867 72623867 + Silent SNP T T C TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr4:72623867T>C ENST00000273951.8 - 7 1066 c.723A>G c.(721-723)caA>caG p.Q241Q GC_ENST00000513476.1_Silent_p.Q241Q|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.Q260Q NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 241 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TAGGCACTTTTTGGGCTAACT 0.388000 52 64 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79832021 79832021 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr4:79832021G>A ENST00000335016.5 + 16 2486 c.2320G>A c.(2320-2322)Gat>Aat p.D774N PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 774 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 AGATTTTAATGATGATGATAC 0.413000 20 24 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43436141 43436141 + Splice_Site SNP C C G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr11:43436141C>G ENST00000039989.4 + 16 2080 c.2064_splice c.e16-1 p.P689_splice TTC17_ENST00000299240.6_Splice_Site_p.P689_splice|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 689 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TCTTTTCAGCCTCTGACCTTT 0.383000 14 118 0 0 1 0 0 TUBA4A 7277 broad.mit.edu 37 2 220116300 220116300 + Missense_Mutation SNP C C A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:220116300C>A ENST00000392088.2 - 3 872 c.317G>T c.(316-318)cGg>cTg p.R106L TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.R121L NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 121 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTGCGGATCCGATCCAGCAC 0.498000 3 96 1 1 1 1 0 SEZ6 124925 broad.mit.edu 37 17 27286418 27286418 + Missense_Mutation SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr17:27286418C>T ENST00000317338.12 - 9 2272 c.1844G>A c.(1843-1845)cGt>cAt p.R615H PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R615H|SEZ6_ENST00000442608.3_Missense_Mutation_p.R615H Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 615 CUB 2. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ATCCTGCCCACGACCGTAGGG 0.622000 4 76 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280114 39280114 + Silent SNP T T C TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr17:39280114T>C ENST00000394014.1 - 1 305 c.261A>G c.(259-261)agA>agG p.R87R NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 87 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament p.R87R(3) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGTCTGCAGCAGC 0.677000 4 152 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr9:41962602G>T ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 5 36 3.03607e-14 3.4698e-14 1 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204216548 204216548 + Missense_Mutation SNP G G T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr1:204216548G>T ENST00000272203.3 - 13 2181 c.1865C>A c.(1864-1866)tCt>tAt p.S622Y PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S642Y NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 622 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) AGAGACCTCAGACTCGAGGTG 0.562000 15 28 3.41278e-10 3.85032e-10 1 1 0 C10orf90 118611 broad.mit.edu 37 10 128192655 128192655 + Missense_Mutation SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr10:128192655C>T ENST00000284694.7 - 3 1234 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.E325K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E469K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E372K|C10orf90_ENST00000356858.3_Missense_Mutation_p.E325K NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 372 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTTGCCAATTCTGTGTTTTCC 0.478000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 44 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9072168 9072168 + Nonsense_Mutation SNP G G A rs139599907 TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr11:9072168G>A ENST00000457346.2 - 14 1698 c.1624C>T c.(1624-1626)Cga>Tga p.R542* SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.R513*|SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.R542* Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 513 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) AGTGCTGGTCGCAGACCCTCG 0.532000 4 95 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32620816 32620816 + Missense_Mutation SNP T T A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr8:32620816T>A ENST00000521670.1 + 12 1457 c.1349T>A c.(1348-1350)cTt>cAt p.L450H NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GCAACTCATCTTAGATCTTCT 0.403000 4 143 0 0 1 0 0 SOX14 8403 broad.mit.edu 37 3 137483867 137483867 + Missense_Mutation SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr3:137483867C>T ENST00000306087.1 + 1 289 c.241C>T c.(241-243)Cgc>Tgc p.R81C NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 81 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 CCGACCTCGGCGCAAGCCCAA 0.632000 4 43 0 0 1 0 0 MPV17 4358 broad.mit.edu 37 2 27535939 27535939 + Missense_Mutation SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:27535939C>T ENST00000402722.1 - 3 107 c.73G>A c.(73-75)Gct>Act p.A25T MPV17_ENST00000380044.1_Silent_p.Q36Q|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Silent_p.Q36Q|MPV17_ENST00000403262.2_Silent_p.Q36Q|MPV17_ENST00000233545.2_Silent_p.Q36Q|MPV17_ENST00000405983.1_Silent_p.Q51Q|MPV17_ENST00000405076.1_Silent_p.Q36Q P39210 MPV17_HUMAN MpV17 mitochondrial inner membrane protein 25 cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process integral to peroxisomal membrane|mitochondrial inner membrane lung(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCACCAGCTGCTGTGAGA 0.597000 9 111 0 0 1 0 0 CLEC1A 51267 broad.mit.edu 37 12 10224015 10224015 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr12:10224015G>A ENST00000315330.4 - 6 822 c.760C>T c.(760-762)Cgt>Tgt p.R254C CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162C|CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221C NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 254 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 CAGACACAACGCTTCAATTCT 0.483000 11 181 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16872810 16872810 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr19:16872810G>A ENST00000524140.2 + 8 2412 c.1994G>A c.(1993-1995)cGt>cAt p.R665H NWD1_ENST00000379808.3_Missense_Mutation_p.R665H|NWD1_ENST00000339803.6_Missense_Mutation_p.R530H|NWD1_ENST00000552788.1_Missense_Mutation_p.R665H|NWD1_ENST00000523826.1_Missense_Mutation_p.R459H|NWD1_ENST00000549814.1_Missense_Mutation_p.R665H NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 665 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGGTGGTCCGTGAGCGCTAC 0.572000 22 34 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73518810 73518810 + Silent SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:73518810G>A ENST00000436467.2 - 2 1623 c.1236C>T c.(1234-1236)tgC>tgT p.C412C EGR4_ENST00000545030.1_Silent_p.C515C B7ZKU3 B7ZKU3_HUMAN early growth response 4 411 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGCAGATGCGGCACTGGAAGG 0.662000 3 96 0 0 1 0 0 DUSP8 1850 broad.mit.edu 37 11 1586987 1586987 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr11:1586987G>A ENST00000397374.3 - 2 197 c.70C>T c.(70-72)Cct>Tct p.P24S DUSP8_ENST00000331588.4_Missense_Mutation_p.P24S NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 24 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) GGCCCCCCAGGCCCGCCCCGC 0.662000 31 203 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190554476 190554476 + Nonsense_Mutation SNP T T G TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:190554476T>G ENST00000520309.1 + 3 913 c.825T>G c.(823-825)taT>taG p.Y275* ANKAR_ENST00000281412.6_Nonsense_Mutation_p.Y39*|ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000438402.2_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Y204*|ANKAR_ENST00000461516.1_3'UTR NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 275 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CTATAAAATATAATCAGGATT 0.274000 4 55 0 0 1 0 0 IRAK4 51135 broad.mit.edu 37 12 44166061 44166061 + Missense_Mutation SNP A A T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr12:44166061A>T ENST00000431837.1 + 3 322 c.14A>T c.(13-15)gAc>gTc p.D5V IRAK4_ENST00000440781.2_Missense_Mutation_p.D5V|IRAK4_ENST00000448290.2_Missense_Mutation_p.D129V|IRAK4_ENST00000551736.1_Missense_Mutation_p.D129V NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 129 I -> V (in dbSNP:rs56312115). innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) CCTTTCTGTGACAAAGACAGG 0.373000 3 58 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33461117 33461117 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr5:33461117G>A ENST00000265112.3 + 12 1672 c.1361G>A c.(1360-1362)cGg>cAg p.R454Q TARS_ENST00000541634.1_Missense_Mutation_p.R350Q|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.R454Q|TARS_ENST00000414361.2_Missense_Mutation_p.R333Q|TARS_ENST00000455217.2_Missense_Mutation_p.R487Q NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 454 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) GGACTCACCCGGGTACGAAGA 0.498000 7 88 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124132349 124132349 + Silent SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr3:124132349C>T ENST00000360013.3 + 14 2500 c.2373C>T c.(2371-2373)gaC>gaT p.D791D KALRN_ENST00000460856.1_Silent_p.D791D|KALRN_ENST00000240874.3_Silent_p.D791D NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 791 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGAATGAAGACTTGCTTCGGC 0.532000 5 25 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 3 70 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131832692 131832692 + Missense_Mutation SNP A A T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr7:131832692A>T ENST00000359827.3 - 27 5793 c.4831T>A c.(4831-4833)Tcc>Acc p.S1611T PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1611T Q9HCM2 PLXA4_HUMAN plexin A4 1611 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GAGACGGTGGAGTTGTTCACT 0.542000 7 87 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353557 133353557 + Missense_Mutation SNP A A T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr12:133353557A>T ENST00000204726.3 - 20 4400 c.3842T>A c.(3841-3843)gTg>gAg p.V1281E GOLGA3_ENST00000456883.2_Missense_Mutation_p.V1281E|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V1281E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1281 Gln-rich. V -> A (in Ref. 2; AAL93149). intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TTGGTTTCCCACGGGCTGTTT 0.627000 3 38 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167367303 167367303 + Missense_Mutation SNP G G A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr1:167367303G>A ENST00000367862.5 + 11 1404 c.1169G>A c.(1168-1170)cGt>cAt p.R390H POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 378 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGCTTGAGCCGTAGGAGGAAG 0.463000 4 45 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3843002 3843002 + Silent SNP T T C TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr20:3843002T>C ENST00000428216.2 + 5 695 c.567T>C c.(565-567)ccT>ccC p.P189P MAVS_ENST00000416600.2_Silent_p.P48P|MAVS_ENST00000358134.6_3'UTR NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 189 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CCCTCAGCCCTCTGACCTCCA 0.587000 3 58 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67787493 67787495 + In_Frame_Del DEL TAC TAC - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr1:67787493_67787495delTAC ENST00000262345.1 + 3 925_927 c.285_287delTAC c.(283-288)gga>gg p.GT95del IL12RB2_ENST00000544434.1_In_Frame_Del_p.GT95del|IL12RB2_ENST00000541374.1_In_Frame_Del_p.GT95del|IL12RB2_ENST00000371000.1_In_Frame_Del_p.GT95del NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 95 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 TTCCCCTTGGTACAACCTTGTTT 0.404 8 214 --- --- --- --- MTERFD2 130916 broad.mit.edu 37 2 242039085 242039085 + Frame_Shift_Del DEL C C - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr2:242039085delC ENST00000391980.2 - 2 304 c.246delG c.(244-246)ggfs p.G82fs MTERFD2_ENST00000495694.1_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Frame_Shift_Del_p.G82fs NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 82 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) CCACAGGAGTCCCCTGCTTCT 0.488 22 52 --- --- --- --- DPY19L2P2 0 broad.mit.edu 37 7 102883497 102883498 + RNA INS - - A TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr7:102883497_102883498insA ENST00000312132.4 - 0 2616 AGTACCACTGTAAAAAAAAAAA 0.287 4 7 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38146134 38146135 + Frame_Shift_Ins INS - - T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr8:38146134_38146135insT ENST00000317025.8 - 19 3888_3889 c.3371_3372insA c.(3370-3372)cccfs p.P1124fs WHSC1L1_ENST00000433384.2_Frame_Shift_Ins_p.P1075fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Ins_p.P1124fs NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 1124 AWS. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) ACACCTGCGGGTGGCATTCATA 0.525 T NUP98 AML 8 113 --- --- --- --- OR52N5 390075 broad.mit.edu 37 11 5799663 5799664 + Frame_Shift_Ins INS - - AC TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr11:5799663_5799664insAC ENST00000317093.2 - 1 233_234 c.201_202insGT c.(199-204)atatttfs p.IF67fs TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AAAAAAAAATACATCGGATGAT 0.450 8 120 --- --- --- --- CAT 847 broad.mit.edu 37 11 34475464 34475464 + Frame_Shift_Del DEL C C - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr11:34475464delC ENST00000241052.4 + 6 791 c.702delC c.(700-702)ttfs p.F234fs NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 234 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) ATTGCAAATTCCATTATAAGG 0.443 8 74 --- --- --- --- ARGLU1 55082 broad.mit.edu 37 13 107219953 107219955 + In_Frame_Del DEL CTC CTC - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr13:107219953_107219955delCTC ENST00000400198.3 - 1 557_559 c.313_315delGAG c.(313-315)del p.E105del NM_018011.3 NP_060481.3 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 105 Glu-rich. large_intestine(1)|lung(5)|pancreas(1) 7 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) CCGCTTTCTTCTCCTCCTCCTCT 0.714 7 192 --- --- --- --- NR2E3 10002 broad.mit.edu 37 15 72103780 72103795 + RNA DEL GGCCCAGCCCTGCCCT GGCCCAGCCCTGCCCT - rs11271584 by1000genomes TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr15:72103780_72103795delGGCCCAGCCCTGCCCT ENST00000398840.2 + 0 308 Q9Y5X4 NR2E3_HUMAN nuclear receptor subfamily 2, group E, member 3 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 gccctgccccggcccagccctgccctggcccagccc 0.690 2 4 --- --- --- --- ZC3H18 124245 broad.mit.edu 37 16 88694459 88694459 + Frame_Shift_Del DEL C C - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr16:88694459delC ENST00000301011.5 + 15 2601 c.2401delC c.(2401-2403)ccfs p.P802fs ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P826fs NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 802 nucleus nucleic acid binding|zinc ion binding p.Q804fs*15(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCAGCAGGCACCCCCCGGGCA 0.612 7 285 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112482 112482 + RNA DEL C C - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr18:112482delC ENST00000576266.1 + 0 116 AGGGGTGCTTCCAGCGAGGCG 0.622 2 4 --- --- --- --- PBX4 80714 broad.mit.edu 37 19 19729418 19729418 + Frame_Shift_Del DEL G G - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr19:19729418delG ENST00000251203.8 - 1 307 c.21delC c.(19-21)ccfs p.P7fs NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 7 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 gcgatggcgcggggcgcggcg 0.756 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085531 11085533 + RNA DEL AAA AAA - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chr21:11085531_11085533delAAA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caccaccactaaaaccacgacca 0.596 3 5 --- --- --- --- MBTPS2 51360 broad.mit.edu 37 X 21857869 21857871 + In_Frame_Del DEL TGG TGG - TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a3672a-baa0-4d94-aad4-c88dfc3d357f a537ec83-4cbe-4ddc-9116-39468c6bd4bb g.chrX:21857869_21857871delTGG ENST00000365779.2 + 1 98_100 c.17_19delTGG c.(16-21)ctg>c p.LV6del MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 6 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 CCGGTGTCGCTGGTGGTGGTGGT 0.685 3 4 --- --- --- ---