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 ACTG1P17 283693 broad.mit.edu 37 15 83395032 83395032 + RNA SNP C C G TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr15:83395032C>G ENST00000560958.1 - 0 1254 NR_036446.1 TCAGGCAGCACAGGCTACGTA 0.458000 14 2 0 0 0.435327 0 0 SRRM2 23524 broad.mit.edu 37 16 2815941 2815941 + Silent SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr16:2815941C>T ENST00000301740.8 + 11 5961 c.5412C>T c.(5410-5412)agC>agT p.S1804S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1804 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GACAGCGGAGCCGGTCAAGGT 0.607000 3 59 0 0 0.115264 0 0 XIRP2 129446 broad.mit.edu 37 2 168100111 168100111 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr2:168100111G>A ENST00000409195.1 + 9 2298 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 562 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAATGTTTCGAAACTCAACC 0.373000 45 66 0 0 0.864702 0 0 UNC45B 146862 broad.mit.edu 37 17 33477172 33477172 + Missense_Mutation SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr17:33477172C>T ENST00000268876.5 + 4 408 c.311C>T c.(310-312)gCc>gTc p.A104V UNC45B_ENST00000394570.2_Missense_Mutation_p.A104V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A104V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A104V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A104V NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 104 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CAGCGTTGTGCCACCCTCGAG 0.587000 4 97 0 0 0.150653 0 0 HIATL1 84641 broad.mit.edu 37 9 97209207 97209207 + Missense_Mutation SNP T T C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr9:97209207T>C ENST00000375344.3 + 7 1101 c.832T>C c.(832-834)Tat>Cat p.Y278H HIATL1_ENST00000428393.2_Missense_Mutation_p.Y213H NM_032558.2 NP_115947.2 Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 278 transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 11 Acute lymphoblastic leukemia(62;0.136) TTTTTTTCTCTATCTCAGGCA 0.388000 65 120 0 0 0.870114 0 0 NF2 4771 broad.mit.edu 37 22 30035203 30035203 + Splice_Site SNP T T G TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr22:30035203T>G ENST00000338641.4 + 3 804 c.e3+2 NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000334961.7_Intron|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000413209.2_Splice_Site|NF2_ENST00000353887.4_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000347330.5_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(4) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 TTCTTACAGGTACATCAGTCA 0.453000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 98 20 0 0 0.870114 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188641 140188641 + Silent SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr5:140188641C>T ENST00000530339.1 + 1 1869 c.1869C>T c.(1867-1869)cgC>cgT p.R623R PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 p.R623R(2) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCGTTCCGCGTGGGGCTGT 0.672000 44 57 0 0 0.870114 0 0 CNOT1 23019 broad.mit.edu 37 16 58622799 58622799 + Silent SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr16:58622799C>T ENST00000317147.5 - 3 446 c.114G>A c.(112-114)cgG>cgA p.R38R CNOT1_ENST00000441024.2_Silent_p.R38R|CNOT1_ENST00000569240.1_Silent_p.R38R NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 38 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol p.R38R(2) breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAGGACCGTGCCGATTCACAA 0.373000 3 48 0 0 0.115264 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 53 0 0 0.150653 0 0 BMS1P20 96610 broad.mit.edu 37 22 22658317 22658317 + RNA SNP G G A rs4050825 by1000genomes TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr22:22658317G>A ENST00000426066.1 + 0 84 NR_027293.1 GAATGAAGATGTAGAGAAACA 0.284000 3 31 0 0 0.115264 0 0 ETV5 2119 broad.mit.edu 37 3 185823732 185823732 + Splice_Site SNP C C A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr3:185823732C>A ENST00000306376.5 - 2 173 c.e2-1 ETV5_ENST00000537818.1_Splice_Site|ETV5_ENST00000434744.1_Splice_Site|DGKG_ENST00000447054.1_Splice_Site NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) AGGGATCCTCCTGTAATATGA 0.388000 T """TMPRSS2, SCL45A3""" Prostate 9 17 3.09899e-07 3.40452e-07 0.307466 1 0 COG3 83548 broad.mit.edu 37 13 46077403 46077403 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr13:46077403G>A ENST00000349995.5 + 14 1625 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K COG3_ENST00000465942.1_3'UTR NM_031431.3 NP_113619.2 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 505 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) TTTGAAAGATGAACAGAAGAA 0.358000 53 72 0 0 0.870114 0 0 ZNF606 80095 broad.mit.edu 37 19 58490863 58490863 + Silent SNP A A C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr19:58490863A>C ENST00000341164.4 - 7 1805 c.1185T>G c.(1183-1185)acT>acG p.T395T ZNF606_ENST00000536132.1_Silent_p.T305T NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) GTTTCTCTGCAGTGTAAGTGC 0.373000 78 34 0 0 0.870114 0 0 C7 730 broad.mit.edu 37 5 40959667 40959667 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr5:40959667G>A ENST00000313164.9 + 12 1965 c.1606G>A c.(1606-1608)Gtt>Att p.V536I NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 536 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAGATCCTGCGTTGGAGAAAC 0.542000 8 27 0 0 0.335167 0 0 RFC2 5982 broad.mit.edu 37 7 73661054 73661054 + Silent SNP A A G TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr7:73661054A>G ENST00000055077.3 - 5 432 c.372T>C c.(370-372)gcT>gcC p.A124A RFC2_ENST00000352131.3_Intron NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 124 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 CTTTTTGTTGAGCAAACATTT 0.413000 76 136 0 0 0.870114 0 0 CAPN10 11132 broad.mit.edu 37 2 241531379 241531379 + Missense_Mutation SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr2:241531379C>T ENST00000391984.2 + 4 696 c.500C>T c.(499-501)gCc>gTc p.A167V CAPN10_ENST00000391982.2_Missense_Mutation_p.A167V|CAPN10_ENST00000354082.4_Missense_Mutation_p.A167V|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.A167V|CAPN10_ENST00000352879.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 167 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CACCTGTGGGCCGGGCAGGTG 0.642000 11 13 0 0 0.411799 0 0 SPG21 51324 broad.mit.edu 37 15 65273246 65273246 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr15:65273246G>A ENST00000204566.2 - 3 476 c.181C>T c.(181-183)Cgg>Tgg p.R61W SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000433215.2_Missense_Mutation_p.R61W|SPG21_ENST00000416889.2_Missense_Mutation_p.R61W NM_016630.3 NP_057714.1 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 (autosomal recessive, Mast syndrome) 61 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 AAAATCTGCCGGAAAAAGACA 0.453000 36 35 0 0 0.796494 0 0 FER 2241 broad.mit.edu 37 5 108295006 108295006 + Missense_Mutation SNP C C G TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr5:108295006C>G ENST00000281092.4 + 13 1998 c.1614C>G c.(1612-1614)atC>atG p.I538M FER_ENST00000438717.2_Missense_Mutation_p.I363M|FER_ENST00000536402.1_3'UTR NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 538 SH2. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AACAGGTCATCACTAAGAAAT 0.358000 71 114 0 0 0.870114 0 0 DOCK4 9732 broad.mit.edu 37 7 111387452 111387452 + Silent SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr7:111387452C>T ENST00000428084.1 - 43 4736 c.4464G>A c.(4462-4464)aaG>aaA p.K1488K DOCK4_ENST00000437633.1_Silent_p.K1479K|DOCK4_ENST00000494651.2_Silent_p.K362K Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1479 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GCTGCTGATTCTTATTTTCTA 0.368000 16 24 0 0 0.520397 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401769 139401769 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr9:139401769G>A ENST00000277541.6 - 22 3706 c.3631C>T c.(3631-3633)Cgg>Tgg p.R1211W NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1211 EGF-like 31; 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) TGAGTGCCCCGTGGGCAGGAG 0.687000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 27 37 0 0 0.706142 0 0 SAFB 6294 broad.mit.edu 37 19 5641841 5641841 + Translation_Start_Site SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr19:5641841G>A ENST00000433404.1 + 0 497 SAFB_ENST00000454510.1_Intron|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000292123.5_Missense_Mutation_p.V144I|SAFB_ENST00000588852.1_Missense_Mutation_p.V144I|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.V144I Q15424 SAFB1_HUMAN scaffold attachment factor B chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding p.V144I(1) breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TAATGGAAGCGTTGCAGATTG 0.483000 49 35 0 0 0.870114 0 0 SIK1 150094 broad.mit.edu 37 21 44838289 44838289 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr21:44838289G>A ENST00000270162.6 - 12 1727 c.1595C>T c.(1594-1596)gCc>gTc p.A532V NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 532 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 CGGGGAGCAGGCGCCCAGCAG 0.692000 9 3 0 0 0.411799 0 0 ZBTB44 29068 broad.mit.edu 37 11 130131237 130131237 + Silent SNP G G T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr11:130131237G>T ENST00000525842.1 - 2 899 c.532C>A c.(532-534)Cga>Aga p.R178R ZBTB44_ENST00000357899.4_Silent_p.R178R|ZBTB44_ENST00000530205.1_Silent_p.R178R|ZBTB44_ENST00000397753.1_Silent_p.R178R NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) CGGGATTCTCGGCAGACAGGA 0.443000 3 65 0.150653 0.160972 0.150653 1 0 OTOL1 131149 broad.mit.edu 37 3 161220146 161220146 + Missense_Mutation SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr3:161220146C>T ENST00000327928.4 + 3 506 c.506C>T c.(505-507)cCg>cTg p.P169L NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 169 Collagen-like 1. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 CCAGGAAAACCGGGAGCACAA 0.413000 19 24 0 0 0.624587 0 0 CAPN2 824 broad.mit.edu 37 1 223940503 223940503 + Missense_Mutation SNP C C G TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr1:223940503C>G ENST00000295006.5 + 9 1289 c.980C>G c.(979-981)tCt>tGt p.S327C CAPN2_ENST00000433674.2_Missense_Mutation_p.S249C NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 327 Calpain catalytic. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) GCCAGGATGTCTTTCAGTGAC 0.502000 40 66 0 0 0.834066 0 0 AKAP11 11215 broad.mit.edu 37 13 42877012 42877012 + Missense_Mutation SNP A A C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr13:42877012A>C ENST00000025301.2 + 8 4305 c.4130A>C c.(4129-4131)aAa>aCa p.K1377T NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1377 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CGATCTGTTAAATCAGGATTA 0.408000 49 64 0 0 0.870114 0 0 XK 7504 broad.mit.edu 37 X 37553617 37553617 + Missense_Mutation SNP A A C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chrX:37553617A>C ENST00000378616.3 + 2 527 c.324A>C c.(322-324)caA>caC p.Q108H TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 108 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) AGAAGAGGCAAATGCCAAAAA 0.478000 34 10 0 0 0.760397 0 0 LMTK2 22853 broad.mit.edu 37 7 97833456 97833456 + Missense_Mutation SNP T T C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr7:97833456T>C ENST00000297293.5 + 13 4734 c.4441T>C c.(4441-4443)Ttt>Ctt p.F1481L NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1481 Missing (in Ref. 2; BAA83031). early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CATTGCCAGCTTTTCCCTCAC 0.672000 59 81 0 0 0.870114 0 0 BOLA1 51027 broad.mit.edu 37 1 149871795 149871795 + Silent SNP G G T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr1:149871795G>T ENST00000369153.2 + 3 847 c.183G>T c.(181-183)ccG>ccT p.P61P BOLA1_ENST00000369152.5_Silent_p.P61P|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Silent_p.P61P Q9Y3E2 BOLA1_HUMAN bolA family member 1 61 extracellular region protein binding p.P61P(2) endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) ACGCGGTCCCGCCTGGCAGTG 0.677000 6 60 0.217242 0.228985 0.217242 1 0 COL6A5 256076 broad.mit.edu 37 3 130162344 130162344 + Missense_Mutation SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr3:130162344C>T ENST00000265379.6 + 36 7006 c.6512C>T c.(6511-6513)cCg>cTg p.P2171L COL6A5_ENST00000432398.2_Missense_Mutation_p.P2171L A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2171 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 TACCCACCACCGATGCTTGAG 0.373000 5 91 0 0 0.217242 0 0 ZNF451 26036 broad.mit.edu 37 6 57012950 57012950 + Missense_Mutation SNP C C A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr6:57012950C>A ENST00000370706.4 + 10 2311 c.2067C>A c.(2065-2067)caC>caA p.H689Q RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000589549.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 689 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATGAGGAGCACCACAGCATAG 0.343000 54 16 8.44121e-28 1.02877e-27 0.870114 1 0 OCM 654231 broad.mit.edu 37 7 5922122 5922122 + Splice_Site SNP A A T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr7:5922122A>T ENST00000242104.5 + 2 153 c.e2-1 OCM_ENST00000416608.1_Splice_Site NM_001097622.1 NP_001091091.1 P0CE72 ONCO_HUMAN oncomodulin calcium ion binding p.?(1) endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) TCTGTTCTTCAGACCCAGACA 0.408000 71 167 0 0 0.870114 0 0 OAS2 4939 broad.mit.edu 37 12 113446979 113446979 + Missense_Mutation SNP G G T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr12:113446979G>T ENST00000392583.2 + 10 2190 c.1983G>T c.(1981-1983)aaG>aaT p.K661N RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.K661N NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 661 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AAGAAGCAAAGGAATGGTTAT 0.522000 153 266 4.07331e-60 5.04315e-60 0.870114 1 0 TBC1D5 9779 broad.mit.edu 37 3 17226605 17226605 + Missense_Mutation SNP A A C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr3:17226605A>C ENST00000253692.7 - 19 3512 c.1848T>G c.(1846-1848)caT>caG p.H616Q TBC1D5_ENST00000429383.4_Missense_Mutation_p.H616Q|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.H638Q|TBC1D5_ENST00000429924.2_Missense_Mutation_p.H590Q NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 616 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 ACTTACCAAGATGAGTGTCCA 0.423000 102 23 0 0 0.870114 0 0 EIF3E 3646 broad.mit.edu 37 8 109260914 109260914 + Missense_Mutation SNP C C A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr8:109260914C>A ENST00000220849.5 - 1 80 c.18G>T c.(16-18)ttG>ttT p.L6F EIF3E_ENST00000519030.1_5'UTR NM_001568.2 NP_001559.1 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, subunit E 6 Sufficient for interaction with EPAS1. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) TGCGAGTAGTCAAGTCGTACT 0.498000 36 66 9.04072e-19 1.0525e-18 0.779181 1 0 USP37 57695 broad.mit.edu 37 2 219330803 219330803 + Missense_Mutation SNP T T C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr2:219330803T>C ENST00000258399.3 - 21 2808 c.2396A>G c.(2395-2397)cAg>cGg p.Q799R USP37_ENST00000415516.1_Missense_Mutation_p.Q705R|USP37_ENST00000454775.1_Missense_Mutation_p.Q799R|USP37_ENST00000418019.1_Missense_Mutation_p.Q799R NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 799 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) CATATCATACTGCTGGAGCCA 0.423000 102 140 0 0 0.870114 0 0 ZNF460 10794 broad.mit.edu 37 19 57802196 57802196 + Missense_Mutation SNP A A G TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr19:57802196A>G ENST00000360338.3 + 3 609 c.287A>G c.(286-288)cAa>cGa p.Q96R ZNF460_ENST00000537645.1_Missense_Mutation_p.Q55R NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 96 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCCATGGATCAAGATGGGCCA 0.512000 50 29 0 0 0.870114 0 0 TMCO3 55002 broad.mit.edu 37 13 114150177 114150177 + Missense_Mutation SNP A A G TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr13:114150177A>G ENST00000434316.2 + 2 640 c.281A>G c.(280-282)cAc>cGc p.H94R TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.H94R NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 94 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) TTTCAGGTGCACACGTTTGAA 0.463000 32 68 0 0 0.769981 0 0 EZH1 2145 broad.mit.edu 37 17 40864465 40864465 + Missense_Mutation SNP C C A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr17:40864465C>A ENST00000428826.2 - 12 1364 c.1243G>T c.(1243-1245)Gct>Tct p.A415S EZH1_ENST00000585893.1_Missense_Mutation_p.A375S|EZH1_ENST00000592743.1_Missense_Mutation_p.A415S|EZH1_ENST00000435174.1_Missense_Mutation_p.A276S|EZH1_ENST00000415827.2_Missense_Mutation_p.A406S|EZH1_ENST00000590078.1_Missense_Mutation_p.A345S Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 415 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) GCTGGACTAGCCTTCTGTTTT 0.498000 61 110 3.79397e-19 4.48378e-19 0.870114 1 0 NMT1 4836 broad.mit.edu 37 17 43163945 43163945 + Missense_Mutation SNP G G C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr17:43163945G>C ENST00000592782.1 + 4 441 c.310G>C c.(310-312)Gga>Cga p.G104R NMT1_ENST00000258960.2_Missense_Mutation_p.G104R|NMT1_ENST00000590114.1_3'UTR P30419 NMT1_HUMAN N-myristoyltransferase 1 104 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) AGTGGGTCAGGGACCTGCCAA 0.517000 35 56 0 0 0.788014 0 0 FAM161B 145483 broad.mit.edu 37 14 74407656 74407656 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr14:74407656G>A ENST00000286544.3 - 5 1760 c.1562C>T c.(1561-1563)gCc>gTc p.A521V FAM161B_ENST00000534936.1_Missense_Mutation_p.A458V NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 CTTCCTGGTGGCATCTGTGAT 0.592000 73 56 0 0 0.870114 0 0 NOL6 65083 broad.mit.edu 37 9 33469503 33469503 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr9:33469503G>A ENST00000379471.2 - 5 808 c.721C>T c.(721-723)Ccg>Tcg p.P241S NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.P181S Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 241 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TCACCACGCGGCCGCAGCAAC 0.597000 5 154 0 0 0.217242 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 48 0 0 0.115264 0 0 POMC 5443 broad.mit.edu 37 2 25384345 25384345 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr2:25384345G>A ENST00000405623.1 - 3 864 c.409C>T c.(409-411)Cgc>Tgc p.R137C POMC_ENST00000395826.2_Missense_Mutation_p.R137C|POMC_ENST00000380794.1_Missense_Mutation_p.R137C|POMC_ENST00000264708.3_Missense_Mutation_p.R137C P01189 COLI_HUMAN proopiomelanocortin 137 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) GAGTAGGAGCGCTTGCCCTCG 0.726000 8 17 0 0 0.278610 0 0 KCNH8 131096 broad.mit.edu 37 3 19554581 19554581 + Missense_Mutation SNP G G T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr3:19554581G>T ENST00000328405.2 + 13 2465 c.2199G>T c.(2197-2199)agG>agT p.R733S NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 733 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TCTGCACAAGGGGATCTTCTT 0.542000 53 23 2.81731e-22 3.38077e-22 0.870114 1 0 SLC30A1 7779 broad.mit.edu 37 1 211749361 211749361 + Missense_Mutation SNP A A T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr1:211749361A>T ENST00000367001.4 - 2 1022 c.893T>A c.(892-894)aTt>aAt p.I298N NM_021194.2 NP_067017.2 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), member 1 298 cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1) 11 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) AGTACTATTAATTATTTCTAC 0.373000 122 195 0 0 0.870114 0 0 TMEM160 54958 broad.mit.edu 37 19 47549310 47549310 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr19:47549310G>A ENST00000253047.6 - 3 517 c.502C>T c.(502-504)Ccc>Tcc p.P168S NM_017854.1 NP_060324.1 Q9NX00 TM160_HUMAN transmembrane protein 160 168 integral to membrane lung(1) 1 all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242) TCGTCCTCGGGCACCAGCTCC 0.766000 4 0 0 0 0.184627 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474332 145474332 + Missense_Mutation SNP G G C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr1:145474332G>C ENST00000323397.4 + 4 2297 c.1004G>C c.(1003-1005)cGc>cCc p.R335P NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 335 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAACTGAGCCGCATGGAGCCA 0.652000 31 86 0 0 0.740014 0 0 ATP5B 506 broad.mit.edu 37 12 57037243 57037243 + Silent SNP A A G TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr12:57037243A>G ENST00000262030.3 - 5 786 c.736T>C c.(736-738)Tta>Cta p.L246L ATP5B_ENST00000552919.1_Silent_p.L246L NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 246 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCATGGTATAAATCATTGCCT 0.438000 74 154 0 0 0.870114 0 0 IRX1 79192 broad.mit.edu 37 5 3599646 3599646 + Missense_Mutation SNP C C A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr5:3599646C>A ENST00000302006.3 + 2 636 c.584C>A c.(583-585)gCg>gAg p.A195E CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 195 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 ACATGGGGAGCGCGCAGCAAG 0.632000 42 54 1.96642e-18 2.2556e-18 0.827153 1 0 MGAM 8972 broad.mit.edu 37 7 141732690 141732690 + Silent SNP T T C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr7:141732690T>C ENST00000475668.2 + 14 1704 c.1650T>C c.(1648-1650)aaT>aaC p.N550N MGAM_ENST00000549489.2_Silent_p.N550N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 550 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACAACCTAAATAATCCCCCAT 0.358000 17 28 0 0 0.557998 0 0 TMCO3 55002 broad.mit.edu 37 13 114150178 114150178 + Missense_Mutation SNP C C A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr13:114150178C>A ENST00000434316.2 + 2 641 c.282C>A c.(280-282)caC>caA p.H94Q TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.H94Q NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 94 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) TTCAGGTGCACACGTTTGAAA 0.463000 32 70 1.04352e-10 1.17963e-10 0.788014 1 0 TAB1 10454 broad.mit.edu 37 22 39811123 39811123 + Missense_Mutation SNP C C T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr22:39811123C>T ENST00000216160.6 + 2 208 c.146C>T c.(145-147)cCa>cTa p.P49L TAB1_ENST00000331454.3_Missense_Mutation_p.P49L NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 49 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 AGCCACCCGCCAGAGGACAGC 0.592000 19 54 0 0 0.592651 0 0 CACNB3 784 broad.mit.edu 37 12 49221583 49221583 + Silent SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr12:49221583G>A ENST00000301050.2 + 13 1555 c.1356G>A c.(1354-1356)ggG>ggA p.G452G CACNB3_ENST00000540990.1_Silent_p.G439G|CACNB3_ENST00000547392.1_Silent_p.G425G|CACNB3_ENST00000536187.2_Silent_p.G451G|CACNB3_ENST00000547230.1_Silent_p.G411G NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 452 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) GTGCTAACGGGCATGACCCCC 0.622000 4 95 0 0 0.184627 0 0 ZNF257 113835 broad.mit.edu 37 19 22271410 22271410 + Missense_Mutation SNP A A T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr19:22271410A>T ENST00000594947.1 + 4 1002 c.858A>T c.(856-858)aaA>aaT p.K286N NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AGCCCTTCAAATATGATGAAT 0.393000 49 57 0 0 0.870114 0 0 ILDR2 387597 broad.mit.edu 37 1 166890437 166890437 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr1:166890437G>A ENST00000271417.3 - 9 1446 c.1391C>T c.(1390-1392)gCg>gTg p.A464V ILDR2_ENST00000526687.1_Missense_Mutation_p.A356V|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.A405V|ILDR2_ENST00000529071.1_Missense_Mutation_p.A445V|ILDR2_ENST00000525740.1_Missense_Mutation_p.A337V NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 464 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GCCGCTGTGCGCCCGCGACTC 0.726000 3 8 0 0 0.184627 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3669219 3669219 + Missense_Mutation SNP T T C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr20:3669219T>C ENST00000202578.4 - 20 5044 c.5045A>G c.(5044-5046)cAc>cGc p.H1682R SIGLEC1_ENST00000344754.4_Silent_p.P1706P Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 0 cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGCCCAGGGGTGGGGCACAGG 0.577000 3 8 0 0 0.115264 0 0 HPCA 3208 broad.mit.edu 37 1 33359401 33359401 + Frame_Shift_Del DEL A A - TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr1:33359401delA ENST00000373467.3 + 4 622 c.520delA c.(520-522)aafs p.K174fs NM_002143.2 NP_002134.2 P84074 HPCA_HUMAN hippocalcin 174 EF-hand 4. actin binding|calcium ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CCGCGGGGCCAAAAGCGACCC 0.692 2 4 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176637152 176637152 + Frame_Shift_Del DEL T T - TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr5:176637152delT ENST00000439151.2 + 5 1797 c.1752delT c.(1750-1752)acfs p.T584fs NSD1_ENST00000347982.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.T481fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 584 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AATTTGAGACTTCAAATGGTG 0.443 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 103 36 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123844355 123844356 + Frame_Shift_Ins INS - - C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr10:123844355_123844356insC ENST00000369005.1 + 4 2680_2681 c.2340_2341insC c.(2338-2343)caccccfs p.HP780fs TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.HP780fs NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 780 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGGTGCCACATCCCCCCCAGGG 0.639 33 101 --- --- --- --- BIN2 51411 broad.mit.edu 37 12 51693052 51693055 + Frame_Shift_Del DEL TTTG TTTG - TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr12:51693052_51693055delTTTG ENST00000267012.4 - 7 595_598 c.534_537delCAAA c.(532-537)aafs p.NK178fs BIN2_ENST00000452142.2_Frame_Shift_Del_p.NK146fs|BIN2_ENST00000544402.1_Frame_Shift_Del_p.NK152fs|BIN2_ENST00000604560.1_Frame_Shift_Del_p.NK151fs NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 178 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CAGTCTGGGCTTTGTTGAACTCTT 0.417 59 108 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102312241 102312241 + RNA DEL A A - rs59860046 TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr15:102312241delA ENST00000561463.1 + 0 13609 AGTGGCCGGGAAATTTGCTGT 0.592 3 3 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12642605 12642606 + Frame_Shift_Ins INS - - C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr17:12642605_12642606insC ENST00000425538.1 + 7 877_878 c.677_678insC c.(676-678)gccfs p.A226fs MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 226 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAGGGGCTTGGCCCCCCCAGCA 0.584 7 123 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15730745 15730747 + RNA DEL TAA TAA - rs140849245 TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr19:15730745_15730747delTAA ENST00000441682.2 + 0 586 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 taggagcatgtaatggactcatg 0.468 2 4 --- --- --- --- ZNF430 80264 broad.mit.edu 37 19 21239825 21239826 + Frame_Shift_Ins INS - - T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr19:21239825_21239826insT ENST00000261560.5 + 5 892_893 c.711_712insT c.(709-714)gagtggfs p.EW237fs NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 AATGTGAAGAATGTGGTAAAGT 0.332 84 84 --- --- --- --- APCDD1L-AS1 149773 broad.mit.edu 37 20 57104948 57104949 + RNA INS - - TTT rs35353712 TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr20:57104948_57104949insTTT ENST00000427140.1 + 0 826 NR_034147.1 tgggcctggagttttttttttt 0.342 4 6 --- --- --- --- EP300-AS1 101927279 broad.mit.edu 37 22 41585697 41585697 + RNA DEL T T - TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chr22:41585697delT ENST00000420537.1 - 0 223 ctgcTGGCCATTTTTTTTTTC 0.493 2 4 --- --- --- --- GAGE2A 729447 broad.mit.edu 37 X 49355892 49355893 + Frame_Shift_Del DEL AC AC - rs147803166 by1000genomes TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37304384-692f-46f7-8e4e-d8aaba14f020 fbce4ebf-8285-4ce2-884e-5993aec48ae5 g.chrX:49355892_49355893delAC ENST00000362097.1 + 3 257_258 c.174_175delAC c.(172-177)ggagfs p.GQ58fs NM_001127212.1 NP_001120684.1 G antigen 2A p.Q59E(8) endometrium(4) 4 Ovarian(276;0.236) CTCAGGAGGGACAGGATGAGGG 0.559 4 6 --- --- --- ---