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 KRT17P2 339241 broad.mit.edu 37 17 18333127 18333127 + RNA SNP G G T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr17:18333127G>T ENST00000326333.8 + 0 949 GAGAAGAACCGCAAGGATGCC 0.592000 12 16 0.0931896 0.0953568 1 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 90 0 0 1 0 0 CSF3 1440 broad.mit.edu 37 17 38172871 38172871 + Missense_Mutation SNP C C T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr17:38172871C>T ENST00000331769.2 + 3 641 c.425C>T c.(424-426)aCc>aTc p.T142I CSF3_ENST00000394149.3_Missense_Mutation_p.T146I|CSF3_ENST00000577675.1_Missense_Mutation_p.T106I|CSF3_ENST00000394148.3_Missense_Mutation_p.T113I|CSF3_ENST00000225474.2_Missense_Mutation_p.T149I P09919 CSF3_HUMAN colony stimulating factor 3 (granulocyte) 149 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTTGCCACCACCATCTGGCAG 0.637000 50 56 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44797153 44797153 + Missense_Mutation SNP A A G TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr7:44797153A>G ENST00000309315.4 + 5 668 c.545A>G c.(544-546)tAt>tGt p.Y182C ZMIZ2_ENST00000433667.1_Missense_Mutation_p.Y150C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.Y182C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.Y150C|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.Y182C NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 182 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTGAGCCAGTATGGAGCGGTG 0.667000 7 8 0 0 1 0 0 PTOV1 53635 broad.mit.edu 37 19 50357743 50357743 + Silent SNP C C T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr19:50357743C>T ENST00000391842.1 + 2 422 c.252C>T c.(250-252)agC>agT p.S84S PTOV1_ENST00000601638.1_Silent_p.S52S|PTOV1_ENST00000600603.1_Silent_p.S52S|PTOV1_ENST00000599732.1_Silent_p.S84S|PTOV1_ENST00000221557.9_Silent_p.S52S|PTOV1_ENST00000601675.1_Silent_p.S84S|PTOV1_ENST00000598325.1_3'UTR|AC018766.6_ENST00000601211.1_RNA NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) TGGCCGTGAGCGAGCACCGGC 0.667000 4 108 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872529 36872529 + Missense_Mutation SNP T T C TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr3:36872529T>C ENST00000301807.6 - 21 8660 c.6763A>G c.(6763-6765)Att>Gtt p.I2255V TRANK1_ENST00000429976.2_Missense_Mutation_p.I2805V|TRANK1_ENST00000428977.2_Missense_Mutation_p.I2255V O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2805 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTTCATCAATGGCCGGGTCC 0.532000 85 108 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141590905 141590905 + Silent SNP G G A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr4:141590905G>A ENST00000442267.2 - 8 1394 c.1320C>T c.(1318-1320)agC>agT p.S440S NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 440 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CAGCATCAGAGCTCGTGCTTC 0.577000 17 25 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 11 9 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 45 5.9392e-07 6.22202e-07 1 1 0 OLFM4 10562 broad.mit.edu 37 13 53624143 53624143 + Missense_Mutation SNP C C A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr13:53624143C>A ENST00000219022.2 + 5 848 c.770C>A c.(769-771)cCg>cAg p.P257Q NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 257 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ATCAGCAAACCGTCTGTGGTT 0.433000 51 60 9.86064e-34 1.08467e-33 1 1 0 KIF23 9493 broad.mit.edu 37 15 69732743 69732743 + Missense_Mutation SNP A A G TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr15:69732743A>G ENST00000260363.4 + 17 2101 c.1984A>G c.(1984-1986)Aaa>Gaa p.K662E KIF23_ENST00000395392.2_Missense_Mutation_p.K662E|KIF23_ENST00000558585.1_Missense_Mutation_p.K479E|KIF23_ENST00000537891.1_Missense_Mutation_p.K479E|KIF23_ENST00000352331.4_Missense_Mutation_p.K662E|KIF23_ENST00000559279.1_Missense_Mutation_p.K662E NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 662 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TACCGAACCTAAAACTGAGAA 0.438000 38 29 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35444501 35444501 + Silent SNP C C T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr20:35444501C>T ENST00000237536.4 - 5 1685 c.1344G>A c.(1342-1344)gtG>gtA p.V448V SOGA1_ENST00000456801.2_Silent_p.V51V|SOGA1_ENST00000279034.6_Silent_p.V210V|SOGA1_ENST00000357779.3_Silent_p.V210V NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 210 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 GCTTCAGGTGCACCTTCAGCT 0.657000 13 20 0 0 1 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405863 20405863 + RNA SNP G G A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr17:20405863G>A ENST00000580113.1 - 0 1000 GCCATTACTGGTGACTTGGGG 0.547000 12 40 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 6 59 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154174850 154174850 + Missense_Mutation SNP C C G TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr5:154174850C>G ENST00000336314.4 + 8 1141 c.1117C>G c.(1117-1119)Ctt>Gtt p.L373V NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 450 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGTGCAGGCCCTTACCACTGA 0.517000 10 27 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76475640 76475640 + Silent SNP C C T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr17:76475640C>T ENST00000389840.5 - 50 7909 c.7785G>A c.(7783-7785)acG>acA p.T2595T DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.T2604T dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCAGGTGCTGCGTCAGGATTG 0.607000 30 38 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4933452 4933452 + Missense_Mutation SNP T T C TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr16:4933452T>C ENST00000345988.2 - 22 5293 c.5204A>G c.(5203-5205)tAt>tGt p.Y1735C PPL_ENST00000590782.2_Missense_Mutation_p.Y1733C NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1735 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ATAGCGGTCATACTGAGCAGG 0.552000 19 30 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21594801 21594801 + Missense_Mutation SNP G G A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr11:21594801G>A ENST00000298925.5 + 20 2465 c.2312G>A c.(2311-2313)gGg>gAg p.G771E NELL1_ENST00000532434.1_Missense_Mutation_p.G696E|NELL1_ENST00000357134.5_Missense_Mutation_p.G743E|NELL1_ENST00000325319.5_Missense_Mutation_p.G686E|NELL1_ENST00000529218.1_3'UTR Q92832 NELL1_HUMAN NEL-like 1 (chicken) 743 VWFC 5. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ATCTTAGAAGGGGAATGTTGT 0.473000 29 43 0 0 1 0 0 VTCN1 79679 broad.mit.edu 37 1 117695792 117695792 + Silent SNP G G A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr1:117695792G>A ENST00000369458.3 - 4 723 c.645C>T c.(643-645)taC>taT p.Y215Y VTCN1_ENST00000359008.4_Silent_p.Y218Y|VTCN1_ENST00000539893.1_Silent_p.Y120Y|VTCN1_ENST00000328189.3_Silent_p.Y99Y NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 215 Ig-like V-type 2. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TCGTAACATTGTAGAGCACAG 0.453000 67 78 0 0 1 0 0 EIF2S1 1965 broad.mit.edu 37 14 67848360 67848360 + Missense_Mutation SNP G G C TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr14:67848360G>C ENST00000256383.4 + 6 1092 c.631G>C c.(631-633)Gcc>Ccc p.A211P EIF2S1_ENST00000466499.2_Missense_Mutation_p.A211P NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 211 cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) TGTAAAAGAAGCCCTAAGAGC 0.348000 31 43 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138239673 138239673 + Missense_Mutation SNP A A G TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr7:138239673A>G ENST00000343526.4 + 9 1707 c.1492A>G c.(1492-1494)Atg>Gtg p.M498V TRIM24_ENST00000415680.2_Intron|TRIM24_ENST00000497516.1_Intron O15164 TIF1A_HUMAN tripartite motif containing 24 498 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AAACCCTAGAATGCAGGGGCC 0.488000 42 41 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 45 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43019173 43019173 + Missense_Mutation SNP G G A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr6:43019173G>A ENST00000535468.1 - 4 1104 c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W CUL7_ENST00000265348.3_Missense_Mutation_p.R256W NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 256 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TGCAAATACCGCTTCACCAGG 0.567000 17 38 0 0 1 0 0 MIR518D 574489 broad.mit.edu 37 19 54238195 54238195 + RNA SNP C C T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr19:54238195C>T ENST00000385014.1 + 0 65 NR_030211.1 AAGCGCTTCCCTTTGGAGCGT 0.443000 40 46 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121237452 121237452 + Splice_Site SNP C C T rs145708206 byFrequency TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr8:121237452C>T ENST00000297848.3 + 15 2133 c.1863C>T c.(1861-1863)acC>acT p.T621T COL14A1_ENST00000247781.3_Splice_Site_p.T526T|COL14A1_ENST00000309791.4_Splice_Site_p.T621T|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 621 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTTTTACCACCGGTAAGCAGC 0.403000 31 56 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176887532 176887532 + Silent SNP G G T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr5:176887532G>T ENST00000292385.5 - 11 1471 c.862C>A c.(862-864)Cgg>Agg p.R288R DBN1_ENST00000393563.4_Silent_p.R18R|DBN1_ENST00000393565.1_Silent_p.R286R|DBN1_ENST00000512501.1_Silent_p.R18R|DBN1_ENST00000309007.5_Silent_p.R286R NM_080881.2 NP_543157 Q16643 DREB_HUMAN drebrin 1 286 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGTCAGGCCGCTGGGCAATA 0.612000 58 71 7.50695e-29 8.05624e-29 1 1 0 JAG2 3714 broad.mit.edu 37 14 105609073 105609073 + Missense_Mutation SNP C C A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr14:105609073C>A ENST00000331782.3 - 26 4079 c.3676G>T c.(3676-3678)Gtc>Ttc p.V1226F JAG2_ENST00000347004.2_Missense_Mutation_p.V1188F NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1226 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) ATGCTCCTGACCGCGCGGTTG 0.692000 3 17 1 1 1 1 0 KLHDC2 23588 broad.mit.edu 37 14 50249092 50249092 + Nonsense_Mutation SNP T T G TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr14:50249092T>G ENST00000557247.1 + 10 1189 c.888T>G c.(886-888)taT>taG p.Y296* KLHDC2_ENST00000298307.5_Missense_Mutation_p.W321G|KLHDC2_ENST00000554589.1_Missense_Mutation_p.W321G Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 0 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) ATGCAGGTTATGGCACACAGC 0.413000 31 53 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111591410 111591410 + Silent SNP G G A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr11:111591410G>A ENST00000304987.3 + 11 1877 c.1704G>A c.(1702-1704)caG>caA p.Q568Q NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 568 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 TGAGCTCCCAGAAACGAGAGG 0.547000 27 50 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133218864 133218864 + Missense_Mutation SNP C C T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr12:133218864C>T ENST00000320574.5 - 38 5115 c.5072G>A c.(5071-5073)cGc>cAc p.R1691H POLE_ENST00000535270.1_Missense_Mutation_p.R1664H NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1691 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CAGGTCAGGGCGGGCTGTAGG 0.572000 DNA polymerases (catalytic subunits) 32 46 0 0 1 0 0 TMEM8C 389827 broad.mit.edu 37 9 136384092 136384092 + Silent SNP G G A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr9:136384092G>A ENST00000339996.3 - 3 404 c.303C>T c.(301-303)gtC>gtT p.V101V TMEM8C_ENST00000413714.1_5'UTR NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 101 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 CAATGGTCAGGACGCCGAACA 0.607000 47 74 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr19:42301736G>A ENST00000357396.3 + 2 521 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 94 Ig-like V-type. integral to membrane p.A94T(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGGGCCGCATACAGCGG 0.463000 4 225 0 0 1 0 0 P2RX3 5024 broad.mit.edu 37 11 57114033 57114033 + Silent SNP C C T TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr11:57114033C>T ENST00000263314.2 + 2 169 c.135C>T c.(133-135)caC>caT p.H45H NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 45 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity p.H45H(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 TTTTCTTGCACGAGAAGGCTT 0.547000 3 58 0 0 1 0 0 AC079779.6 0 broad.mit.edu 37 2 322068 322068 + RNA DEL G G - TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr2:322068delG ENST00000436808.2 + 0 11 tggggcaggtggggaggagca 0.527 2 4 --- --- --- --- APOB 338 broad.mit.edu 37 2 21260839 21260840 + Frame_Shift_Ins INS - - A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr2:21260839_21260840insA ENST00000233242.1 - 5 654_655 c.527_528insT c.(526-528)gtgfs p.V176fs APOB_ENST00000399256.4_Frame_Shift_Ins_p.V176fs NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 176 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCAGAAACAACACTTGCTTGGC 0.460 60 91 --- --- --- --- UGT1A1 54658 broad.mit.edu 37 2 234622156 234622158 + In_Frame_Del DEL GAG GAG - TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr2:234622156_234622158delGAG ENST00000608381.1 + 1 519_521 c.519_521delGAG c.(517-522)ttgagg>ttg p.R174del UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_In_Frame_Del_p.R174del|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron NM_019078.1 NP_061951.1 P22309 UD11_HUMAN bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGTTTTTCTTGAGGAACATTCCA 0.463 94 163 --- --- --- --- RSPH4A 345895 broad.mit.edu 37 6 116950757 116950758 + Frame_Shift_Ins INS - - A TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr6:116950757_116950758insA ENST00000229554.5 + 4 1827_1828 c.1690_1691insA c.(1690-1692)caafs p.Q564fs RSPH4A_ENST00000368581.4_Intron|RSPH4A_ENST00000368580.4_Frame_Shift_Ins_p.Q317fs NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 564 Glu-rich. cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAACTCCATACAAAAAAATgag 0.371 Kartagener syndrome 50 71 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcgfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 4 5 --- --- --- --- SNORD56 26793 broad.mit.edu 37 11 89851593 89851593 + RNA DEL T T - TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr11:89851593delT ENST00000384569.1 + 0 35 TCGACAGCAGTTCACCCATTG 0.448 2 4 --- --- --- --- IREB2 3658 broad.mit.edu 37 15 78783054 78783054 + Frame_Shift_Del DEL G G - TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr15:78783054delG ENST00000258886.8 + 18 2424 c.2275delG c.(2275-2277)ggafs p.G759fs NM_004136.2 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 759 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) ATCACCTGCAGGAAGTATCGC 0.398 117 122 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 6 5 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48198717 48198717 + Frame_Shift_Del DEL C C - TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd8aed9e-9a24-4bfa-9b02-0e11e31ed01b 4bc4c1f2-3570-48cc-a509-38e80aa09cd4 g.chr19:48198717delC ENST00000396720.3 + 10 3366 c.3172delC c.(3172-3174)cccfs p.P1058fs CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1058 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCCAGGGAAGCCCTCCGGGCT 0.657 2 4 --- --- --- ---