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 C2orf42 54980 broad.mit.edu 37 2 70402827 70402827 + Silent SNP A A C TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr2:70402827A>C ENST00000264434.2 - 5 1396 c.1017T>G c.(1015-1017)gtT>gtG p.V339V C2orf42_ENST00000420306.1_Silent_p.V339V NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 339 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 ACGAGGAAGCAACCACAGGCT 0.438000 7 363 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828112 43828112 + Silent SNP A A G rs150656228 by1000genomes TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr9:43828112A>G ENST00000377564.3 + 9 1761 c.1368A>G c.(1366-1368)gtA>gtG p.V456V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 456 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 GGCACTCTGTATCCTTCTCTG 0.458000 3 71 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 6 423 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 279 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 68 0 0 1 0 0 CDC23 8697 broad.mit.edu 37 5 137524750 137524750 + Missense_Mutation SNP A A G TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr5:137524750A>G ENST00000394886.2 - 16 1741 c.1711T>C c.(1711-1713)Ttt>Ctt p.F571L NM_004661.3 NP_004652.2 Q9UJX2 CDC23_HUMAN cell division cycle 23 571 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGTAGGAAAAAGGGAGCAGGC 0.532000 3 100 0 0 1 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073506 74073506 + Nonsense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr6:74073506C>T ENST00000370367.3 + 3 630 c.577C>T c.(577-579)Cga>Tga p.R193* NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member GGGGACCCAGCGATCCCCCGA 0.642000 4 74 0 0 1 0 0 C16orf80 29105 broad.mit.edu 37 16 58149268 58149268 + Missense_Mutation SNP G G A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr16:58149268G>A ENST00000262498.3 - 4 704 c.370C>T c.(370-372)Cgg>Tgg p.R124W C16orf80_ENST00000562443.1_5'UTR NM_013242.2 NP_037374.1 Q9Y6A4 CP080_HUMAN chromosome 16 open reading frame 80 124 multicellular organismal development kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCATCCAGCCGCATGGGCATG 0.532000 4 138 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149631107 149631107 + Missense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chrX:149631107C>T ENST00000370401.2 + 3 476 c.166C>T c.(166-168)Cat>Tat p.H56Y MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H56Y|MAMLD1_ENST00000432680.2_Intron Q13495 MAMD1_HUMAN mastermind-like domain containing 1 56 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AGGAAGAAAGCATCAGGTAAG 0.517000 9 61 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 77 0.004672 0.00506962 1 1 0 SHROOM2 357 broad.mit.edu 37 X 9841718 9841718 + Silent SNP G G A rs139542964 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chrX:9841718G>A ENST00000380913.3 + 2 282 c.192G>A c.(190-192)gcG>gcA p.A64A NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 64 PDZ. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AAGCCGCGGCGGTCGACAAGT 0.537000 OREG0019659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 134 0 0 1 0 0 KIAA0513 9764 broad.mit.edu 37 16 85100875 85100875 + Missense_Mutation SNP G G C TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr16:85100875G>C ENST00000566428.1 + 2 829 c.198G>C c.(196-198)tgG>tgC p.W66C KIAA0513_ENST00000258180.3_Missense_Mutation_p.W66C|KIAA0513_ENST00000538274.1_Missense_Mutation_p.W66C|KIAA0513_ENST00000567328.1_Missense_Mutation_p.W66C O60268 K0513_HUMAN KIAA0513 66 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) ACCCGTCCTGGGACCAAGACC 0.617000 5 69 0 0 1 0 0 TEKT4P2 0 broad.mit.edu 37 21 9907198 9907198 + RNA SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr21:9907198C>T ENST00000416067.1 - 0 1594 NR_037872.1|NR_038327.1 GTGCAGAAAGCTAACGCACTG 0.592000 3 22 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 115 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 92 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155491013 155491013 + Missense_Mutation SNP G G A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr1:155491013G>A ENST00000368346.3 - 2 937 c.298C>T c.(298-300)Cca>Tca p.P100S ASH1L_ENST00000548830.1_Missense_Mutation_p.P100S|ASH1L_ENST00000392403.3_Missense_Mutation_p.P100S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 100 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAGTTCTTTGGAGGTTTTTTA 0.373000 6 220 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 4 91 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414527 138414527 + Missense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr2:138414527C>T ENST00000409968.1 + 23 4445 c.4267C>T c.(4267-4269)Cgc>Tgc p.R1423C THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1426C|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1395C thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCTAGAAACACGCCCTTGTAC 0.408000 23 215 0 0 1 0 0 VDAC3 7419 broad.mit.edu 37 8 42259489 42259489 + Silent SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr8:42259489C>T ENST00000392935.3 + 7 653 c.510C>T c.(508-510)ttC>ttT p.F170F VDAC3_ENST00000022615.4_Silent_p.F169F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.F170F NM_001135694.2|NM_005662.6 NP_001129166.1|NP_005653.3 Q9Y277 VDAC3_HUMAN voltage-dependent anion channel 3 169 adenine transport mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024) Dihydroxyaluminium(DB01375) AGAATAATTTCGCCCTGGGTT 0.463000 4 77 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 7 148 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47426730 47426730 + Missense_Mutation SNP G G C TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr14:47426730G>C ENST00000426342.1 - 9 1788 c.1042C>G c.(1042-1044)Cgc>Ggc p.R348G MDGA2_ENST00000439988.2_Missense_Mutation_p.R577G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R348G|MDGA2_ENST00000399232.2_Missense_Mutation_p.R646G NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 577 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TTGCCCAAGCGCCACTCATAG 0.453000 5 125 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 171 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652207 121652207 + Missense_Mutation SNP A A G TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr7:121652207A>G ENST00000393386.2 + 12 3518 c.3107A>G c.(3106-3108)gAt>gGt p.D1036G PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1036 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GTGTTTGGTGATGATAATAAG 0.363000 4 120 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 285 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869879 52869879 + Silent SNP C C A rs139676524 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr19:52869879C>A ENST00000601151.1 + 5 1571 c.1119C>A c.(1117-1119)acC>acA p.T373T ZNF610_ENST00000327920.8_Silent_p.T416T|ZNF610_ENST00000321287.8_Silent_p.T416T|ZNF610_ENST00000403906.3_Silent_p.T416T NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TATACCTAACCAACCATCAGA 0.423000 3 86 1 1 1 1 0 SLC2A14 144195 broad.mit.edu 37 12 7984255 7984255 + Missense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr12:7984255C>T ENST00000543909.1 - 9 1045 c.286G>A c.(286-288)Gtc>Atc p.V96I SLC2A14_ENST00000539924.1_Missense_Mutation_p.V111I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V73I|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V73I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V96I|SLC2A14_ENST00000535295.1_Intron Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 96 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ATACCCCCGACGGAAAATATG 0.493000 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 134 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 5 60 1 1 1 1 0 DHX37 57647 broad.mit.edu 37 12 125459964 125459964 + Splice_Site SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr12:125459964C>T ENST00000308736.2 - 6 1079 c.e6+1 DHX37_ENST00000544745.1_Splice_Site NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) AGAGCCCTCACCGCTGGGACA 0.652000 7 118 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 4 90 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153789197 153789197 + Missense_Mutation SNP G G A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr5:153789197G>A ENST00000297107.6 + 9 1398 c.1261G>A c.(1261-1263)Gca>Aca p.A421T SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.A359T|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.A94T NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 421 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) tggggatgtcgcagtccagaa 0.542000 5 192 0 0 1 0 0 GRIA4 0 broad.mit.edu 37 11 105845050 105845050 + Missense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr11:105845050C>T ENST00000393127.2 + 16 2869 c.2423C>T c.(2422-2424)gCc>gTc p.A808V GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Missense_Mutation_p.A808V|GRIA4_ENST00000525187.1_Missense_Mutation_p.A808V|GRIA4_ENST00000282499.5_Missense_Mutation_p.A808V NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 808 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AAGACGAGTGCCTTGAGCCTG 0.463000 4 195 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 69 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 18 113 0 0 1 0 0 GOLGA2B 0 broad.mit.edu 37 12 100559710 100559710 + RNA SNP T T G TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr12:100559710T>G ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 CAGAGGCTGGTGCCCGCCTTC 0.602000 7 10 0 0 1 0 0 OAS2 0 broad.mit.edu 37 12 113447028 113447028 + Missense_Mutation SNP C C A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr12:113447028C>A ENST00000392583.2 + 10 2239 c.2032C>A c.(2032-2034)Cca>Aca p.P678T OAS2_ENST00000342315.4_Missense_Mutation_p.P678T|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 678 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AAACCCAATACCACCTTGGAA 0.493000 10 356 0.0809354 0.0859938 1 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16863232 16863232 + Missense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr11:16863232C>T ENST00000355661.3 - 9 744 c.734G>A c.(733-735)aGc>aAc p.S245N PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S245N|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S245N Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 245 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CGCTGTGGAGCTGTTATAGAT 0.557000 3 70 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688592 1688594 + In_Frame_Del DEL AGG AGG - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr1:1688592_1688594delAGG ENST00000344463.4 - 6 952_954 c.731_733delCCT c.(730-735)ggg>g p.AW244del NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.AW244del|NADK_ENST00000341426.5_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) TGTGCACCCCAGGCCCCCTTCCC 0.626 8 56 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 7 101 --- --- --- --- TNR 7143 broad.mit.edu 37 1 175372615 175372615 + Frame_Shift_Del DEL C C - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr1:175372615delC ENST00000367674.1 - 4 1345 c.637delG c.(637-639)tgfs p.V213fs TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 213 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCCACACACACCCCCCGGCTG 0.607 7 338 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73315337 73315339 + In_Frame_Del DEL TGG TGG - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr2:73315337_73315339delTGG ENST00000258098.6 - 3 1647_1649 c.1407_1409delCCA c.(1405-1410)caa>ca p.HQ469del RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 469 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 ACTTAGGCCTTGGTGGTGGTGGT 0.635 8 294 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195412724 195412725 + RNA DEL TT TT - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr3:195412724_195412725delTT ENST00000445430.1 + 0 3921_3922 TTGACAAAACTTTGAACGAGGC 0.401 8 79 --- --- --- --- NECAB1 64168 broad.mit.edu 37 8 91804128 91804128 + Frame_Shift_Del DEL A A - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr8:91804128delA ENST00000417640.2 + 1 351 c.14delA c.(13-15)cgfs p.Q5fs NECAB1_ENST00000521954.1_3'UTR NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 5 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) GAAGATTCCCAGGAGACATCG 0.647 2 4 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 9 141 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 143 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 8 142 --- --- --- --- IGHV4OR15-8 0 broad.mit.edu 37 15 22473268 22473268 + RNA DEL G G - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr15:22473268delG ENST00000557788.2 - 0 46 ATCAGAGGCAGCCTCCCCTAT 0.582 8 74 --- --- --- --- GOLGA6B 55889 broad.mit.edu 37 15 72957311 72957313 + In_Frame_Del DEL GAG GAG - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr15:72957311_72957313delGAG ENST00000421285.3 + 14 1528_1530 c.1528_1530delGAG c.(1528-1530)del p.E513del NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 513 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 TCTGGACAGTGAGGAGGAGGAGG 0.635 3 5 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 8 93 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 8 118 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740385 58740386 + Frame_Shift_Ins INS - - A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr17:58740385_58740386insA ENST00000305921.3 + 6 1522_1523 c.1290_1291insA c.(1288-1293)gtattcfs p.F431fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 431 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GGCCAAGGGTGAATTCTAAGGA 0.401 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 10 211 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 7 246 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76778785 76778787 + In_Frame_Del DEL TCT TCT - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chrX:76778785_76778787delTCT ENST00000373344.5 - 31 7006_7008 c.6792_6794delAGA c.(6790-6795)gag>ga p.EE2264del ATRX_ENST00000395603.3_In_Frame_Del_p.EE2226del|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2264 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTCAGTCAACTCTTCTTCTTCTT 0.369 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 479 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 7 204 --- --- --- ---