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 VPS53 55275 broad.mit.edu 37 17 465966 465966 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr17:465966C>T ENST00000437048.2 - 14 1479 c.1333G>A c.(1333-1335)Gat>Aat p.D445N VPS53_ENST00000571805.1_Missense_Mutation_p.D445N|VPS53_ENST00000446250.2_Missense_Mutation_p.D247N|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Missense_Mutation_p.D168N|VPS53_ENST00000291074.5_Missense_Mutation_p.D416N|VPS53_ENST00000576149.1_5'UTR NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 445 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) ACAAACCGATCTATCAGCTCT 0.458000 4 64 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102822797 102822797 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr11:102822797C>T ENST00000260302.3 - 5 771 c.743G>A c.(742-744)gGc>gAc p.G248D MMP13_ENST00000340273.4_Missense_Mutation_p.G248D NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 248 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.G248D(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTGGCTTTTGCCGGTGTAGGT 0.448000 4 197 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117532360 117532360 + Missense_Mutation SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chrX:117532360G>A ENST00000254029.3 + 8 1596 c.1201G>A c.(1201-1203)Gca>Aca p.A401T WDR44_ENST00000371825.3_Missense_Mutation_p.A401T|WDR44_ENST00000371822.5_Missense_Mutation_p.A376T NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 401 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 TAATGACGCGGCACAGTCAGA 0.363000 3 45 0 0 1 0 0 TEX9 374618 broad.mit.edu 37 15 56680674 56680674 + Missense_Mutation SNP C C G TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr15:56680674C>G ENST00000558083.2 + 4 373 c.43C>G c.(43-45)Ctg>Gtg p.L15V TEX9_ENST00000561221.2_Missense_Mutation_p.L90V|TEX9_ENST00000352903.2_Missense_Mutation_p.L90V|TEX9_ENST00000537232.1_Missense_Mutation_p.L15V Q8N6V9 TEX9_HUMAN testis expressed 9 90 cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) CTGTAGAGGTCTGTTACCATC 0.308000 17 110 0 0 1 0 0 RPF1 80135 broad.mit.edu 37 1 84948626 84948626 + Missense_Mutation SNP T T C TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr1:84948626T>C ENST00000370654.5 + 3 329 c.314T>C c.(313-315)aTt>aCt p.I105T RPF1_ENST00000370656.1_Missense_Mutation_p.I105T NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 105 rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 CCCAAGACCATTGACAACCAG 0.338000 3 38 0 0 1 0 0 INTS4L2 0 broad.mit.edu 37 7 65154327 65154327 + RNA SNP T T C TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr7:65154327T>C ENST00000430126.2 + 0 811 GCTGTACTAATGTTTCAACCA 0.363000 4 42 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42171853 42171853 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr8:42171853C>T ENST00000520810.1 + 9 892 c.706C>T c.(706-708)Cgg>Tgg p.R236W IKBKB_ENST00000520835.1_Missense_Mutation_p.R234W|IKBKB_ENST00000379708.3_Missense_Mutation_p.R13W|IKBKB_ENST00000416505.2_Missense_Mutation_p.R177W|IKBKB_ENST00000522147.1_Intron NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 236 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TTCAAAAGTGCGGCAGAAGAG 0.423000 4 125 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116698112 116698112 + Missense_Mutation SNP A A C TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr10:116698112A>C ENST00000298746.3 + 1 161 c.100A>C c.(100-102)Acc>Ccc p.T34P NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 34 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.T34P(1) breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) AATGGCTGCGACCCCGTCAGC 0.637000 5 7 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 73 0.00909568 0.00909568 1 1 0 STAG1 10274 broad.mit.edu 37 3 136062803 136062803 + Missense_Mutation SNP A A C TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr3:136062803A>C ENST00000383202.2 - 30 3573 c.3317T>G c.(3316-3318)aTt>aGt p.I1106S STAG1_ENST00000536929.1_Missense_Mutation_p.I690S|STAG1_ENST00000236698.5_Missense_Mutation_p.I1106S|STAG1_ENST00000434713.2_Missense_Mutation_p.I846S NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 1106 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 AGGAGTCTGAATCATGGTGTC 0.507000 9 71 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 101 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90429610 90429610 + Missense_Mutation SNP C C A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr14:90429610C>A ENST00000335725.4 + 3 402 c.152C>A c.(151-153)gCc>gAc p.A51D TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.A51D|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.A51D|TDP1_ENST00000555880.1_Missense_Mutation_p.A51D NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 51 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TGTTCCGAGGCCCAGAAAGCT 0.488000 Repair of DNA-protein crosslinks 4 57 2.56e-06 2.67636e-06 1 1 0 OLFML2B 25903 broad.mit.edu 37 1 161967655 161967655 + Silent SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr1:161967655C>T ENST00000294794.3 - 6 1857 c.1434G>A c.(1432-1434)acG>acA p.T478T OLFML2B_ENST00000367940.2_Silent_p.T479T NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 478 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) CGGGGCTCAGCGTGGGGCTGG 0.562000 13 195 0 0 1 0 0 MYPOP 339344 broad.mit.edu 37 19 46393884 46393884 + Silent SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr19:46393884C>T ENST00000322217.5 - 3 1283 c.1197G>A c.(1195-1197)ccG>ccA p.P399P NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 399 nucleus DNA binding large_intestine(2)|lung(1)|skin(1) 4 GTAGATTTCACGGAGATTTCC 0.642000 3 43 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49170258 49170258 + Silent SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr12:49170258G>A ENST00000307885.4 - 6 2182 c.1488C>T c.(1486-1488)tcC>tcT p.S496S ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.S496S|ADCY6_ENST00000550422.1_Silent_p.S496S NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 496 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 TCACATCATTGGACCACACAT 0.647000 5 36 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103017289 103017289 + Silent SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr7:103017289G>A ENST00000306312.3 - 19 2268 c.2007C>T c.(2005-2007)gaC>gaT p.D669D SLC26A5_ENST00000339444.6_Silent_p.D669D|SLC26A5_ENST00000432958.2_Silent_p.D637D|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Silent_p.D671D|SLC26A5_ENST00000393730.1_Silent_p.D637D|SLC26A5_ENST00000393723.1_Silent_p.D639D|SLC26A5_ENST00000393729.1_Silent_p.D632D|SLC26A5_ENST00000354356.4_Silent_p.D102D|SLC26A5_ENST00000356767.4_Intron NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 669 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 ATATACCGACGTCTCCATATT 0.308000 4 108 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127693527 127693527 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr10:127693527C>T ENST00000368695.1 + 7 718 c.596C>T c.(595-597)gCt>gTt p.A199V FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.A205V NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 205 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) TCTTGGCAGGCTAGAGACCTG 0.532000 8 92 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 4 62 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84202651 84202651 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr9:84202651C>T ENST00000376499.3 - 17 2986 c.1922G>A c.(1921-1923)aGg>aAg p.R641K NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 641 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GTCCCAGGACCTGACTGTGTT 0.597000 5 62 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55432865 55432865 + Missense_Mutation SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr11:55432865G>A ENST00000314259.3 + 1 252 c.223G>A c.(223-225)Gtt>Att p.V75I NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CTCATCTGTCGTTGCCCCCAA 0.448000 7 118 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666747 19666747 + Missense_Mutation SNP G G C TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr21:19666747G>C ENST00000284885.3 - 21 2359 c.2326C>G c.(2326-2328)Ctg>Gtg p.L776V NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 776 proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TGAGCTGCCAGTTTTTTTCCA 0.423000 10 121 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134029950 134029950 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr11:134029950C>T ENST00000534548.2 - 29 3768 c.3704G>A c.(3703-3705)cGa>cAa p.R1235Q NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1235 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GAGCTCATCTCGGTAATCCTG 0.488000 10 73 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 48 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134252993 134252993 + Silent SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr7:134252993G>A ENST00000457545.2 + 4 494 c.234G>A c.(232-234)gaG>gaA p.E78E AKR1B15_ENST00000423958.1_Silent_p.E50E NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 78 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 ATTTCTATGAGAATCAACATG 0.478000 12 89 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35770839 35770839 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr3:35770839C>T ENST00000187397.4 + 15 1726 c.1270C>T c.(1270-1272)Cgc>Tgc p.R424C ARPP21_ENST00000458225.1_Missense_Mutation_p.R390C|ARPP21_ENST00000444190.1_Missense_Mutation_p.R370C|ARPP21_ENST00000337271.5_Missense_Mutation_p.R370C|ARPP21_ENST00000417925.1_Missense_Mutation_p.R390C NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 424 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATCGCTGTCCCGCACCCATCC 0.552000 3 44 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139263143 139263143 + Silent SNP C C A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr8:139263143C>A ENST00000395297.1 - 6 653 c.483G>T c.(481-483)ctG>ctT p.L161L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 161 p.L161L(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGATCACAGACAGGTGGAAAT 0.597000 HNSCC(54;0.14) 19 87 2.35188e-11 2.51597e-11 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112430676 112430676 + Silent SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr6:112430676G>A ENST00000230538.7 - 39 5833 c.5436C>T c.(5434-5436)agC>agT p.S1812S LAMA4_ENST00000389463.4_Silent_p.S1805S|LAMA4_ENST00000424408.2_Silent_p.S1805S|LAMA4_ENST00000522006.1_Silent_p.S1805S NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1812 Laminin G-like 5. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTACGGCGCCGCTGACCAGGG 0.532000 3 52 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43816202 43816202 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr15:43816202C>T ENST00000382031.1 + 5 3276 c.3245C>T c.(3244-3246)tCa>tTa p.S1082L MAP1A_ENST00000399453.1_Missense_Mutation_p.S844L|MAP1A_ENST00000300231.5_Missense_Mutation_p.S844L P78559 MAP1A_HUMAN microtubule-associated protein 1A 844 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TTTGCCACATCAGTGGCTGAG 0.532000 5 37 0 0 1 0 0 IGHV4-59 0 broad.mit.edu 37 14 107083278 107083278 + RNA SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr14:107083278G>A ENST00000455737.1 - 0 365 ATACACGGCCGTGTCCGCAGC 0.587000 4 226 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 4 68 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 102 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39767650 39767650 + Nonsense_Mutation SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr17:39767650G>A ENST00000301653.4 - 3 782 c.718C>T c.(718-720)Cag>Tag p.Q240* NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 240 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) CCTTCGATCTGCATCTCCAGG 0.637000 13 98 0 0 1 0 0 RP5-884C9.2 0 broad.mit.edu 37 1 38546374 38546377 + RNA DEL CTTA CTTA - TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr1:38546374_38546377delCTTA ENST00000432922.1 + 0 301 CTTTGAAAGGCTTACTTTCAAAAC 0.363 3 4 --- --- --- --- IGHJ6 0 broad.mit.edu 37 14 106329450 106329451 + RNA INS - - ACC rs74454466 by1000genomes TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr14:106329450_106329451insACC ENST00000390560.2 - 0 17_18 CAGACGTCCATGTAGTAGTAGT 0.540 7 92 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 4 8 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15347257 15347258 + RNA INS - - A rs80199214 TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad18700a-4894-4c51-9d92-68514c853b0c 7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c g.chr21:15347257_15347258insA ENST00000344693.5 - 0 736 NR_027270.1 ACCCTGCACAGAAAAAAAGTTG 0.307 4 7 --- --- --- ---