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 FRG1B 284802 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 4 140 0.000602214 0.000615165 1 1 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 42 0 0 1 0 0 CXorf36 79742 broad.mit.edu 37 X 45010992 45010992 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chrX:45010992C>T ENST00000398000.2 - 5 1281 c.1207G>A c.(1207-1209)Gcc>Acc p.A403T CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 403 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 AGCTGGCTGGCGGCCCCAAGG 0.547000 51 10 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431523 140431523 + Silent SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr5:140431523C>T ENST00000306549.3 + 1 545 c.468C>T c.(466-468)agC>agT p.S156S NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 156 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCTGCAGAGCGCCCAGGATC 0.527000 24 48 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32630828 32630828 + Missense_Mutation SNP G G A rs147667610 TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr9:32630828G>A ENST00000242310.4 - 1 4839 c.4750C>T c.(4750-4752)Cgg>Tgg p.R1584W NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1584 Bromo 2. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAACTCTCCCGACTCTGATAC 0.373000 65 134 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39502528 39502528 + Missense_Mutation SNP G G C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr14:39502528G>C ENST00000537403.1 - 16 2809 c.1607C>G c.(1606-1608)tCt>tGt p.S536C SEC23A_ENST00000536508.1_Missense_Mutation_p.S636C|SEC23A_ENST00000545328.2_Missense_Mutation_p.S709C|SEC23A_ENST00000307712.6_Missense_Mutation_p.S738C Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 738 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) AGGTGCTCCAGACTCCTAGAG 0.328000 39 63 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 4 69 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 108 0 0 1 0 0 PI4KAP1 728233 broad.mit.edu 37 22 20386816 20386816 + RNA SNP A A G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr22:20386816A>G ENST00000430523.3 - 0 1696 NR_003563.1 GTTTTCTTGGAGACAGTGATG 0.597000 4 7 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107826120 107826120 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chrX:107826120C>T ENST00000328300.6 + 17 1187 c.943C>T c.(943-945)Cct>Tct p.P315S COL4A5_ENST00000361603.2_Missense_Mutation_p.P315S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 315 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AAAGGGTTTGCCTGGTGATCC 0.398000 Alport syndrome with Diffuse Leiomyomatosis 4 89 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21210936 21210936 + Missense_Mutation SNP G G C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr16:21210936G>C ENST00000574002.1 - 17 2364 c.1882C>G c.(1882-1884)Cca>Gca p.P628A AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.P619A|ZP2_ENST00000219593.4_Missense_Mutation_p.P628A Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 628 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GAACACAGTGGGGAGTCAGGG 0.453000 15 29 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11732352 11732352 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr5:11732352C>T ENST00000304623.8 - 2 259 c.70G>A c.(70-72)Gcc>Acc p.A24T CTNND2_ENST00000359640.2_Missense_Mutation_p.A24T|CTNND2_ENST00000458100.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 24 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTCTCTGAGGCTGATGAAGGC 0.507000 33 42 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74976495 74976495 + Silent SNP G G A rs142012825 TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr14:74976495G>A ENST00000261978.4 - 21 3605 c.3219C>T c.(3217-3219)ttC>ttT p.F1073F LTBP2_ENST00000556690.1_Silent_p.F1073F NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1073 Cys-rich.|EGF-like 9; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CAGAGCAGGCGAAGGAGCCCT 0.587000 40 62 0 0 1 0 0 WWC2 80014 broad.mit.edu 37 4 184114758 184114758 + Silent SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr4:184114758G>A ENST00000403733.3 + 2 337 c.138G>A c.(136-138)acG>acA p.T46T WWC2_ENST00000378925.3_5'UTR|WWC2_ENST00000448232.2_Silent_p.T46T|WWC2_ENST00000513834.1_Silent_p.T46T NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 46 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) GTAGGTTAACGAAGCCCTTGT 0.468000 15 21 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33144778 33144778 + Silent SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr6:33144778G>A ENST00000341947.2 - 25 2288 c.2061C>T c.(2059-2061)gaC>gaT p.D687D COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Silent_p.D606D|COL11A2_ENST00000361917.1_Silent_p.D580D|COL11A2_ENST00000357486.1_Silent_p.D666D|COL11A2_ENST00000374708.4_Silent_p.D601D|COL11A2_ENST00000374713.1_Silent_p.D640D|COL11A2_ENST00000395197.1_Silent_p.D627D|COL11A2_ENST00000374714.1_Silent_p.D661D NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 687 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCGGGGGTCCGTCTGAGCCAG 0.607000 12 16 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 110 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408453 29408453 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr6:29408453C>T ENST00000444197.2 + 1 1371 c.661C>T c.(661-663)Ctc>Ttc p.L221F OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CGGGCGTATCCTCGTTACCAT 0.587000 91 153 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186106054 186106054 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr1:186106054C>T ENST00000271588.4 + 87 13796 c.13567C>T c.(13567-13569)Cca>Tca p.P4523S HMCN1_ENST00000367492.2_Missense_Mutation_p.P4523S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4523 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTCAGAGTGCCAGTCATAGT 0.398000 4 143 0 0 1 0 0 CTD-2571L23.6 0 broad.mit.edu 37 19 48260380 48260380 + RNA SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr19:48260380C>T ENST00000602048.1 - 0 452 GCAGACTCTGCGTGTCCCCCC 0.607000 15 17 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 47 17 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50408575 50408575 + Silent SNP C C T rs147838161 TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr20:50408575C>T ENST00000217086.4 - 2 558 c.447G>A c.(445-447)gcG>gcA p.A149A SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000395997.3_Silent_p.A149A|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 149 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A149A(1) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCACAGACTCCGCATCCGGCT 0.572000 118 211 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023385 18023385 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr17:18023385C>T ENST00000205890.5 + 2 1609 c.1271C>T c.(1270-1272)cCg>cTg p.P424L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 424 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCCCACAACCCGTATGCCCAC 0.667000 34 65 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21073885 21073885 + Missense_Mutation SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr16:21073885T>C ENST00000261383.3 - 25 3637 c.3638A>G c.(3637-3639)gAc>gGc p.D1213G DNAH3_ENST00000415178.1_Missense_Mutation_p.D1213G NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1213 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTCCAGATTGTCTGTAAACTC 0.458000 8 155 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90321099 90321099 + Missense_Mutation SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr9:90321099G>A ENST00000469640.2 + 27 3563 c.3188G>A c.(3187-3189)cGc>cAc p.R1063H DAPK1_ENST00000472284.1_Missense_Mutation_p.R1038H|DAPK1_ENST00000408954.3_Missense_Mutation_p.R1038H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1038H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R972H P53355 DAPK1_HUMAN death-associated protein kinase 1 1038 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CTGGACCCCCGCTGGCTCTGC 0.622000 Chronic Lymphocytic Leukemia, Familial Clustering of 29 46 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17152969 17152969 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr10:17152969C>T ENST00000377833.4 - 9 1029 c.964G>A c.(964-966)Gtt>Att p.V322I NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 322 EGF-like 4; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.V322I(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACACACTCAACGGGTGGAGCC 0.512000 26 60 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197522 44197522 + Missense_Mutation SNP A A G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr6:44197522A>G ENST00000393841.1 + 5 799 c.308A>G c.(307-309)cAt>cGt p.H103R SLC29A1_ENST00000393844.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000371724.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000371755.3_Missense_Mutation_p.H103R|SLC29A1_ENST00000371713.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000371708.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000313248.7_Missense_Mutation_p.H182R|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000427851.2_Missense_Mutation_p.H103R|SLC29A1_ENST00000371740.5_Missense_Mutation_p.H103R NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 103 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) TCCTTCCTGCATCAGAGGTGA 0.592000 19 50 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237802371 237802371 + Missense_Mutation SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr1:237802371G>A ENST00000366574.2 + 46 7302 c.6985G>A c.(6985-6987)Gag>Aag p.E2329K RYR2_ENST00000360064.6_Missense_Mutation_p.E2327K|RYR2_ENST00000542537.1_Missense_Mutation_p.E2313K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2329 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.E2327K(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCGGAGGCCTGAGTGTTTTGG 0.468000 12 19 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102270333 102270333 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr1:102270333C>T ENST00000370103.4 - 6 1051 c.838G>A c.(838-840)Ggc>Agc p.G280S OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.G300S|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 300 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TAGAGTGAGCCATTGTAGACA 0.418000 40 72 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60890219 60890219 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr20:60890219C>T ENST00000252999.3 - 59 7978 c.7912G>A c.(7912-7914)Gaa>Aaa p.E2638K NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2638 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCTGGGCTTCAGCAGCCACA 0.662000 13 14 0 0 1 0 0 MFAP3L 9848 broad.mit.edu 37 4 170913393 170913393 + Silent SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr4:170913393T>C ENST00000361618.3 - 3 673 c.366A>G c.(364-366)aaA>aaG p.K122K RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.K19K NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 122 Ig-like C2-type. integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CACACGTGTATTTACCTCGGT 0.507000 82 106 0 0 1 0 0 ZADH2 284273 broad.mit.edu 37 18 72913822 72913822 + Missense_Mutation SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr18:72913822G>A ENST00000322342.3 - 2 972 c.683C>T c.(682-684)cCc>cTc p.P228L ZADH2_ENST00000537114.2_Missense_Mutation_p.P105L NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 228 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) GGTACCTACGGGTTCAGTTTT 0.473000 65 104 0 0 1 0 0 PEX13 5194 broad.mit.edu 37 2 61258969 61258969 + Nonsense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr2:61258969C>T ENST00000295030.5 + 2 546 c.508C>T c.(508-510)Cga>Tga p.R170* PEX13_ENST00000472678.1_3'UTR NM_002618.3 NP_002609.1 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 Targeting to peroxisomes. cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) TCACTTTTCCCGATTGAAAAT 0.398000 84 134 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038414 75038414 + Silent SNP A A G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr1:75038414A>G ENST00000326665.5 - 14 3198 c.2980T>C c.(2980-2982)Ttg>Ctg p.L994L C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 994 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AAGGGGCTCAAGCGTGTTTCT 0.537000 33 61 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116729212 116729212 + Missense_Mutation SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr11:116729212T>C ENST00000375300.1 - 20 2830 c.2825A>G c.(2824-2826)tAt>tGt p.Y942C SIK3_ENST00000542607.1_Missense_Mutation_p.Y824C|SIK3_ENST00000446921.2_Missense_Mutation_p.Y882C|SIK3_ENST00000292055.4_Missense_Mutation_p.Y884C|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.Y723C|SIK3_ENST00000375288.1_Missense_Mutation_p.Y219C Q9Y2K2 SIK3_HUMAN SIK family kinase 3 884 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CGACGTGGTATAGTGTGGCGG 0.582000 55 77 0 0 1 0 0 THOC6 79228 broad.mit.edu 37 16 3077426 3077426 + Silent SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr16:3077426G>A ENST00000326266.8 + 12 1166 c.870G>A c.(868-870)aaG>aaA p.K290K THOC6_ENST00000253952.9_Intron|THOC6_ENST00000575576.1_Silent_p.K266K|THOC6_ENST00000574549.1_Silent_p.K266K NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 290 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 GGGAGCTGAAGGCCCAGGTGC 0.687000 18 42 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43096926 43096926 + Silent SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr6:43096926C>T ENST00000230419.4 + 2 512 c.291C>T c.(289-291)ggC>ggT p.G97G PTK7_ENST00000471863.1_Silent_p.G97G|PTK7_ENST00000352931.2_Silent_p.G97G|PTK7_ENST00000476760.1_Silent_p.G97G|PTK7_ENST00000481273.1_Silent_p.G105G|PTK7_ENST00000345201.2_Silent_p.G97G|PTK7_ENST00000349241.2_Silent_p.G97G NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 97 Ig-like C2-type 1. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGGACTCTGGCACCTTCCAGT 0.637000 4 75 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C T rs121913416 TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr3:41266101C>T ENST00000349496.5 + 3 378 c.98C>T c.(97-99)tCt>tTt p.S33F CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33F NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 33 Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TACCTGGACTCTGGAATCCAT 0.488000 S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 18 27 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31842240 31842240 + Missense_Mutation SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr6:31842240G>A ENST00000544672.1 - 7 594 c.298C>T c.(298-300)Cca>Tca p.P100S SLC44A4_ENST00000375562.4_Missense_Mutation_p.P134S|SLC44A4_ENST00000229729.6_Missense_Mutation_p.P176S NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 176 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) TTCTCACCTGGAGCAGAGGGG 0.517000 18 35 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228855879 228855879 + Missense_Mutation SNP G G A rs142164970 byFrequency TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr2:228855879G>A ENST00000392056.3 - 11 4842 c.4796C>T c.(4795-4797)aCg>aTg p.T1599M SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1570M NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1599 cytoplasm protein binding 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) GGCTGTTCCCGTAGGCGGTCC 0.557000 28 50 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271469 1271469 + Silent SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr11:1271469G>A ENST00000447027.1 + 31 13426 c.13368G>A c.(13366-13368)ccG>ccA p.P4456P MUC5B_ENST00000529681.1_Silent_p.P4453P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4453 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P4453P(1)|p.P4408P(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCACAGAGCCGAGCACTACAG 0.662000 92 163 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198281577 198281577 + Missense_Mutation SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr2:198281577T>C ENST00000335508.6 - 6 645 c.554A>G c.(553-555)aAt>aGt p.N185S NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.N185S(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGCTGCTCCATTGACGACTTT 0.433000 Mis myelodysplastic syndrome 110 168 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 314 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17366677 17366677 + Missense_Mutation SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr9:17366677T>C ENST00000380647.3 + 13 2033 c.1949T>C c.(1948-1950)aTa>aCa p.I650T CNTLN_ENST00000262360.5_Missense_Mutation_p.I650T|CNTLN_ENST00000425824.1_Missense_Mutation_p.I650T Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 650 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AAGGCAGCAATACAAGAATTG 0.269000 42 70 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744084 140744084 + Missense_Mutation SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr5:140744084G>A ENST00000518069.1 + 1 187 c.187G>A c.(187-189)Gga>Aga p.G63R PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGAGCGCGGAGTCCGCAT 0.647000 49 86 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74347162 74347162 + Missense_Mutation SNP T T G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr3:74347162T>G ENST00000263665.6 - 17 2374 c.2347A>C c.(2347-2349)Aac>Cac p.N783H NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 783 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCACCTTTGTTATTATAAACA 0.403000 50 78 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149899 45149899 + Missense_Mutation SNP T T G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr13:45149899T>G ENST00000458659.2 - 1 802 c.312A>C c.(310-312)caA>caC p.Q104H TSC22D1_ENST00000501704.2_Missense_Mutation_p.Q104H NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 104 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TCTTTTTCATTTGAGTTCCGC 0.527000 40 62 0 0 1 0 0 PLD3 23646 broad.mit.edu 37 19 40872760 40872760 + Silent SNP A A G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr19:40872760A>G ENST00000409587.1 + 5 580 c.183A>G c.(181-183)gaA>gaG p.E61E PLD3_ENST00000409281.1_Silent_p.E61E|PLD3_ENST00000356508.5_Silent_p.E61E|PLD3_ENST00000409419.1_Silent_p.E61E|PLD3_ENST00000409735.4_Silent_p.E61E Q8IV08 PLD3_HUMAN phospholipase D family, member 3 61 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) TTCTATGGGAATACGGCGACT 0.627000 49 79 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10436850 10436850 + Silent SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr17:10436850G>A ENST00000245503.5 - 20 2664 c.2280C>T c.(2278-2280)acC>acT p.T760T MYH2_ENST00000397183.2_Silent_p.T760T|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 760 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATTTATACTGGGTGTGGTCAA 0.408000 72 140 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796681 109796681 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr8:109796681C>T ENST00000297459.3 - 2 825 c.647G>A c.(646-648)cGc>cAc p.R216H TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 216 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CTTCTCCAGGCGCTCCATCTC 0.622000 16 40 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 132 0.000602214 0.000615165 1 1 0 PTEN 5728 broad.mit.edu 37 10 89692794 89692794 + Missense_Mutation SNP A A G rs121909238 TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr10:89692794A>G ENST00000371953.3 + 5 1635 c.278A>G c.(277-279)cAt>cGt p.H93R NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 93 Phosphatase tensin-type. H -> R (in MCEPHAS).|H -> Y (in CD). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTTGAAGACCATAACCCACCA 0.338000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 44 83 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587708 43587708 + RNA SNP A A G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr17:43587708A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AACAACCACCATCTCCAAATC 0.348000 5 50 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 114989740 114989740 + Missense_Mutation SNP A A G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr9:114989740A>G ENST00000334318.6 - 13 1594 c.1408T>C c.(1408-1410)Ttc>Ctc p.F470L PTBP3_ENST00000374255.2_Missense_Mutation_p.F467L|PTBP3_ENST00000458258.1_Missense_Mutation_p.F473L|PTBP3_ENST00000374257.1_Missense_Mutation_p.F439L|PTBP3_ENST00000343327.2_Missense_Mutation_p.F372L NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 467 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding ATATTCTGGAAGTTTTTAGAG 0.398000 54 80 0 0 1 0 0 SELK 58515 broad.mit.edu 37 3 53922428 53922428 + Silent SNP C C A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr3:53922428C>A ENST00000495461.1 - 2 301 c.102G>T c.(100-102)gtG>gtT p.V34V SELK_ENST00000485414.1_5'UTR|SELK_ENST00000541726.1_Silent_p.V34V Q9Y6D0 SELK_HUMAN 34 response to oxidative stress endoplasmic reticulum BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113) ACAACAAAACCACAAACTCAG 0.368000 25 70 4.26978e-12 4.60942e-12 1 1 0 TNC 3371 broad.mit.edu 37 9 117791722 117791722 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr9:117791722C>T ENST00000350763.4 - 25 6497 c.6086G>A c.(6085-6087)cGc>cAc p.R2029H TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2029 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCCGTTTTTGCGTCTCAGGAA 0.488000 4 137 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 333006 333006 + Splice_Site SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr18:333006C>T ENST00000400256.3 - 7 2161 c.e7+1 NM_130386.2 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GGCAGGCATACCTGTTCCTCT 0.373000 32 76 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151945693 151945693 + Missense_Mutation SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr7:151945693T>C ENST00000355193.2 - 14 2044 c.1826A>G c.(1825-1827)cAt>cGt p.H609R KMT2C_ENST00000262189.6_Missense_Mutation_p.H609R lysine (K)-specific methyltransferase 2C ATTCACTGTATGTTGGGATGA 0.299000 34 52 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 8 167 0 0 1 0 0 LIPK 643414 broad.mit.edu 37 10 90497392 90497392 + Splice_Site SNP G G T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr10:90497392G>T ENST00000404190.1 + 6 670 c.670G>T c.(670-672)Gtg>Ttg p.V224L NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 224 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TATCTTGTAGGTGTTGTTTGG 0.388000 4 189 0.150653 0.152256 1 1 0 ASB4 51666 broad.mit.edu 37 7 95157284 95157284 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr7:95157284C>T ENST00000325885.5 + 3 718 c.647C>T c.(646-648)gCc>gTc p.A216V ASB4_ENST00000428113.1_Missense_Mutation_p.A216V NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 216 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) GCCATCGCCGCCTACTGGGCC 0.617000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 33 0 0 1 0 0 URM1 81605 broad.mit.edu 37 9 131151578 131151578 + Nonsense_Mutation SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr9:131151578G>A ENST00000452446.1 + 4 289 c.227G>A c.(226-228)tGg>tAg p.W76* URM1_ENST00000372853.4_Nonsense_Mutation_p.W76*|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372850.1_3'UTR NM_001135947.2 NP_001129419.1 Q9BTM9 URM1_HUMAN ubiquitin related modifier 1 76 tRNA thio-modification|tRNA wobble uridine modification protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5 GATGCCGACTGGGAGCTACTG 0.582000 28 43 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89725043 89725043 + Splice_Site SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr10:89725043G>A ENST00000371953.3 + 9 2383 c.e9-1 NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCTTTCTCTAGGTGAAGCTGT 0.333000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 22 28 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86697784 86697784 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr15:86697784C>T ENST00000441037.2 + 3 343 c.248C>T c.(247-249)gCc>gTc p.A83V AGBL1_ENST00000421325.2_Missense_Mutation_p.A83V NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 83 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CGTGTGTTTGCCTCCAGTGGT 0.517000 16 32 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969223 118969223 + Missense_Mutation SNP C C A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr10:118969223C>A ENST00000334549.1 + 3 568 c.568C>A c.(568-570)Ccg>Acg p.P190T NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 190 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CAAGAAAAAACCGGACCCCAA 0.507000 4 131 0.00024832 0.000259235 1 1 0 CXCR1 3577 broad.mit.edu 37 2 219028978 219028978 + Silent SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr2:219028978G>A ENST00000295683.2 - 2 1077 c.957C>T c.(955-957)atC>atT p.I319I NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 319 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GCATAGCCAGGATCTTGAGGA 0.502000 54 64 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19687564 19687564 + Missense_Mutation SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr21:19687564T>C ENST00000284885.3 - 17 1964 c.1931A>G c.(1930-1932)aAg>aGg p.K644R NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 644 LDL-receptor class A 2. 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 ATGGTCTGCCTTGCATGGCTC 0.413000 25 44 0 0 1 0 0 C14orf1 11161 broad.mit.edu 37 14 76118232 76118232 + Splice_Site SNP C C G TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr14:76118232C>G ENST00000256319.6 - 4 670 c.225G>C c.(223-225)acG>acC p.T75T FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron NM_007176.3 NP_009107.1 Q9UKR5 ERG28_HUMAN chromosome 14 open reading frame 1 75 sterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|transport vesicle central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163) BRCA - Breast invasive adenocarcinoma(234;0.00147) TGTGATAGAGCCTATAAGGAA 0.468000 21 38 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482030 140482030 + Silent SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr5:140482030C>T ENST00000231130.2 + 1 1797 c.1797C>T c.(1795-1797)aaC>aaT p.N599N NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 599 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGCCAGAACGCCTGGCTGT 0.716000 59 79 0 0 1 0 0 VPS37C 55048 broad.mit.edu 37 11 60901657 60901657 + Missense_Mutation SNP C C A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr11:60901657C>A ENST00000301765.5 - 3 348 c.116G>T c.(115-117)cGg>cTg p.R39L NM_017966.4 NP_060436.4 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37 homolog C (S. cerevisiae) 39 cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 TGCCATCTCCCGTTCCAGCTG 0.587000 26 47 2.47511e-08 2.61261e-08 1 1 0 GPATCH8 23131 broad.mit.edu 37 17 42476701 42476701 + Missense_Mutation SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr17:42476701T>C ENST00000434000.1 - 9 2792 c.2510A>G c.(2509-2511)gAc>gGc p.D837G GPATCH8_ENST00000591680.1_Missense_Mutation_p.D915G Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 915 Ser-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GCTGGCATAGTCTGAGTCATC 0.493000 51 85 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 175 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3779715 3779715 + Nonsense_Mutation SNP G G T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr16:3779715G>T ENST00000262367.5 - 31 6142 c.5333C>A c.(5332-5334)tCg>tAg p.S1778* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1740* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1778 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGCACCAGCGACTGGATGCA 0.662000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 19 34 1.33834e-09 1.42856e-09 1 1 0 FBN3 84467 broad.mit.edu 37 19 8151994 8151994 + Missense_Mutation SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr19:8151994G>A ENST00000600128.1 - 54 7135 c.6721C>T c.(6721-6723)Cgg>Tgg p.R2241W FBN3_ENST00000601739.1_Missense_Mutation_p.R2241W|FBN3_ENST00000270509.2_Missense_Mutation_p.R2241W Q75N90 FBN3_HUMAN fibrillin 3 2241 EGF-like 36; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGCAGGGGCCGCATGCCTGGG 0.627000 3 52 0 0 1 0 0 OR8J1 219477 broad.mit.edu 37 11 56128260 56128260 + Missense_Mutation SNP G G C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr11:56128260G>C ENST00000303039.3 + 1 570 c.538G>C c.(538-540)Gat>Cat p.D180H NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TTTTTACTGTGATAATGTTCC 0.343000 43 58 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60194186 60194186 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr14:60194186C>T ENST00000267484.5 - 3 1551 c.1216G>A c.(1216-1218)Gcg>Acg p.A406T NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 406 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CCCGACTCCGCGCTGCTGGCC 0.716000 7 4 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 8 31 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 62 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 6 29 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688585 1688586 + Frame_Shift_Ins INS - - C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr1:1688585_1688586insC ENST00000344463.4 - 6 960_961 c.739_740insG c.(739-741)gcafs p.A247fs NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.A247fs|NADK_ENST00000342348.5_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) AACTCCATGTGCACCCCAGGCC 0.634 2 4 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27107136 27107137 + Frame_Shift_Del DEL AG AG - TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr1:27107136_27107137delAG ENST00000324856.7 + 20 7118_7119 c.6747_6748delAG c.(6745-6750)tcagagfs p.E2250fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.E2033fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.E1867fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.E578fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2250 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.(2287)fs(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGAACCACTCAGAGTTTACTCT 0.515 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 106 32 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89381266 89381266 + Frame_Shift_Del DEL A A - TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr4:89381266delA ENST00000264350.3 + 3 563 c.410delA c.(409-411)gaafs p.E137fs HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 137 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) ATTTTACAAGAAAAAAAAATA 0.274 7 79 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37045603 37045606 + Frame_Shift_Del DEL AACA AACA - TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr5:37045603_37045606delAACA ENST00000282516.8 + 37 6901_6904 c.6402_6405delAACA c.(6400-6405)ctaacafs p.LT2134fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.LT2134fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2134 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTTCACTTCTAACAAACAAACCAG 0.338 125 250 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64532452 64532452 + RNA DEL T T - rs67432959 TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr7:64532452delT ENST00000426828.1 + 0 1228 NR_033416.1 atgcccagccttttttttttt 0.408 3 4 --- --- --- --- USP3 9960 broad.mit.edu 37 15 63880542 63880547 + In_Frame_Del DEL GAGACA GAGACA - rs144197656 TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr15:63880542_63880547delGAGACA ENST00000268049.7 + 13 1393_1398 c.1069_1074delGAGACA c.(1069-1074)gagacadel p.ET357del USP3_ENST00000539772.1_In_Frame_Del_p.ET130del|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_In_Frame_Del_p.ET335del|USP3_ENST00000558285.1_In_Frame_Del_p.ET362del|USP3_ENST00000380324.3_In_Frame_Del_p.ET379del|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000559711.1_In_Frame_Del_p.ET290del Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 379 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) AGAACTTGATGAGACAGAGTTATATA 0.335 28 76 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 4 8 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44923045 44923048 + Frame_Shift_Del DEL CTAT CTAT - TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1122dc8a-21f8-419c-9f68-9fe65d73f0c2 3b5b9d79-9558-413d-865d-014824295b0c g.chrX:44923045_44923048delCTAT ENST00000377967.4 + 16 1947_1950 c.1906_1909delCTAT c.(1906-1911)ctatctfs p.LS636fs KDM6A_ENST00000536777.1_Frame_Shift_Del_p.LS591fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.LS643fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.LS557fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 636 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GAAAAACCAACTATCTAACTCCAC 0.446 """D, N, F, S""" """renal, oesophageal SCC, MM""" 7 6 --- --- --- ---