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 RUFY3 22902 broad.mit.edu 37 4 71634293 71634293 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr4:71634293A>G ENST00000226328.4 + 5 1174 c.611A>G c.(610-612)gAa>gGa p.E204G RUFY3_ENST00000502653.1_Missense_Mutation_p.E151G|RUFY3_ENST00000381006.3_Missense_Mutation_p.E204G|RUFY3_ENST00000536664.1_Missense_Mutation_p.E188G|RUFY3_ENST00000417478.2_Missense_Mutation_p.E264G NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 204 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) ATGGAAGAAGAAGGAGCCATA 0.413000 51 67 0 0 1 0 0 TBC1D10B 26000 broad.mit.edu 37 16 30369824 30369824 + Missense_Mutation SNP T T C TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr16:30369824T>C ENST00000409939.3 - 9 1948 c.1868A>G c.(1867-1869)gAa>gGa p.E623G NM_015527.3 NP_056342.3 Q4KMP7 TB10B_HUMAN TBC1 domain family, member 10B 623 cytoplasm Rab GTPase activator activity endometrium(2)|kidney(1)|lung(2)|urinary_tract(1) 6 Colorectal(24;0.193) CCCCCGCGTTTCCCGCCACTT 0.647000 8 2 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66204999 66204999 + Missense_Mutation SNP T T A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr6:66204999T>A ENST00000503581.1 - 4 842 c.305A>T c.(304-306)aAt>aTt p.N102I EYS_ENST00000393380.2_Missense_Mutation_p.N102I|EYS_ENST00000370616.2_Missense_Mutation_p.N102I|EYS_ENST00000370621.3_Missense_Mutation_p.N102I|EYS_ENST00000342421.5_Missense_Mutation_p.N102I|EYS_ENST00000370618.3_Missense_Mutation_p.N102I NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 102 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATTCATCAAATTTATTTCTGG 0.378000 8 51 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37179720 37179720 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr20:37179720G>A ENST00000262879.6 + 21 3300 c.3016G>A c.(3016-3018)Gta>Ata p.V1006I RALGAPB_ENST00000397040.1_Missense_Mutation_p.V1006I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V1002I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V784I Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1006 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ACAGCTTTTTGTACCTGAACC 0.388000 5 153 0 0 1 0 0 ZBTB47 92999 broad.mit.edu 37 3 42703080 42703080 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr3:42703080A>G ENST00000457842.3 + 3 1858 c.449A>G c.(448-450)gAg>gGg p.E150G ZBTB47_ENST00000232974.6_Missense_Mutation_p.E526G|ZBTB47_ENST00000505904.1_Missense_Mutation_p.E72G NM_145166.3 NP_660149.2 Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) GAGATCTGTGAGAAGAAGTTC 0.517000 3 31 0 0 1 0 0 PPP1R14D 54866 broad.mit.edu 37 15 41120792 41120792 + Silent SNP C C A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr15:41120792C>A ENST00000299174.5 - 1 115 c.48G>T c.(46-48)ggG>ggT p.G16G PPP1R14D_ENST00000427255.2_Silent_p.G16G NM_017726.7 NP_060196.1 Q9NXH3 PP14D_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14D 16 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity breast(1)|large_intestine(2)|lung(2)|skin(1) 6 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) ATGGGTTCTCCCCATCTGGGC 0.557000 9 34 1.76689e-08 1.82044e-08 1 1 0 ZNF80 7634 broad.mit.edu 37 3 113955352 113955352 + Silent SNP C C T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr3:113955352C>T ENST00000482457.2 - 1 1073 c.570G>A c.(568-570)aaG>aaA p.K190K NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 190 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) ACTCACTGCACTTGCAGGGCT 0.478000 47 75 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16734239 16734239 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr2:16734239A>G ENST00000381323.3 - 12 1157 c.937T>C c.(937-939)Tca>Cca p.S313P FAM49A_ENST00000406434.1_Missense_Mutation_p.S313P|FAM49A_ENST00000355549.2_Missense_Mutation_p.S313P NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 313 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TTGGAAGTTGATTCATCGTTC 0.418000 31 34 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 42 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91715671 91715671 + Missense_Mutation SNP C C G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr7:91715671C>G ENST00000359028.2 + 37 9391 c.9166C>G c.(9166-9168)Cta>Gta p.L3056V AKAP9_ENST00000356239.3_Missense_Mutation_p.L3052V|AKAP9_ENST00000358100.2_Missense_Mutation_p.L3002V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3056 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCTGACAGCTCTAGGTACTAC 0.388000 T BRAF papillary thyroid 8 195 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 375706 375706 + Silent SNP G G C TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr11:375706G>C ENST00000329962.6 + 10 918 c.918G>C c.(916-918)ggG>ggC p.G306G NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 306 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACGTGGGGGGGCGTCCGCCGC 0.677000 6 27 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4788820 4788820 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr17:4788820G>A ENST00000355280.6 + 7 747 c.551G>A c.(550-552)aGa>aAa p.R184K MINK1_ENST00000453408.3_Missense_Mutation_p.R184K|MINK1_ENST00000347992.7_Missense_Mutation_p.R184K NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 184 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 ACCGTGGGCAGACGGAACACT 0.567000 29 58 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654799 8654799 + Missense_Mutation SNP A A T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr19:8654799A>T ENST00000270328.4 - 15 2140 c.1874T>A c.(1873-1875)tTc>tAc p.F625Y ADAMTS10_ENST00000597188.1_Missense_Mutation_p.F625Y|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.S116T Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 625 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CCACTTGTAGAATTTCCCACG 0.577000 31 33 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6264189 6264189 + Translation_Start_Site SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr8:6264189A>G ENST00000344683.5 + 1 77 c.1A>G c.(1-3)Atg>Gtg p.M1V MCPH1_ENST00000522905.1_Start_Codon_SNP_p.M1V|MCPH1_ENST00000519480.1_Start_Codon_SNP_p.M1V|RP11-115C21.2_ENST00000523225.1_RNA NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 1 BRCT 1. microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GCCGTCTGTCATGGCGGCCCC 0.726000 3 3 0 0 1 0 0 RBM38 55544 broad.mit.edu 37 20 55982660 55982660 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr20:55982660G>A ENST00000356208.5 + 4 653 c.478G>A c.(478-480)Gcc>Acc p.A160T RBM38_ENST00000371219.2_Missense_Mutation_p.A79T|RBM38_ENST00000440234.2_3'UTR NM_017495.5 NP_059965.2 Q9H0Z9 RBM38_HUMAN RNA binding motif protein 38 160 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GATCCCAGCCGCCCCTGTCCC 0.662000 3 32 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52981542 52981542 + Missense_Mutation SNP C C T rs145882334 byFrequency TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr12:52981542C>T ENST00000293745.2 - 7 1268 c.1183G>A c.(1183-1185)Gcc>Acc p.A395T KRT72_ENST00000537672.2_Missense_Mutation_p.A395T|KRT72_ENST00000354310.4_Missense_Mutation_p.A353T|KRT72_ENST00000398066.3_Missense_Mutation_p.A207T NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 395 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TGGTGCAGGGCGCCCTCCAGC 0.662000 37 50 0 0 1 0 0 EMC9 51016 broad.mit.edu 37 14 24610468 24610468 + Silent SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr14:24610468G>A ENST00000419198.2 - 1 326 c.46C>T c.(46-48)Ctg>Ttg p.L16L EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Silent_p.L16L ER membrane protein complex subunit 9 GCAGCATGCAGGCACATCTTC 0.647000 OREG0022618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 40 0 0 1 0 0 ZFP41 286128 broad.mit.edu 37 8 144332586 144332586 + Silent SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr8:144332586A>G ENST00000330701.4 + 2 942 c.573A>G c.(571-573)aaA>aaG p.K191K ZFP41_ENST00000522452.1_Silent_p.K191K|ZFP41_ENST00000520584.1_Silent_p.K191K NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 191 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCCATCAGAAACGCCACCCTC 0.642000 12 75 0 0 1 0 0 GUSBP1 728411 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 3 49 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565160 20565160 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr16:20565160G>A ENST00000329697.6 - 5 847 c.679C>T c.(679-681)Ctt>Ttt p.L227F ACSM2B_ENST00000567001.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L148F NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 227 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ATCTTGGGAAGACCACTGGTC 0.512000 11 27 0 0 1 0 0 CCDC64B 146439 broad.mit.edu 37 16 3085362 3085362 + Missense_Mutation SNP C C G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr16:3085362C>G ENST00000572449.1 - 2 198 c.136G>C c.(136-138)Gag>Cag p.E46Q RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.E46Q A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 46 breast(1)|endometrium(2)|large_intestine(1) 4 TCCTCGGGCTCCTCAGGCCCT 0.662000 6 3 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 9 2 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50657281 50657281 + Missense_Mutation SNP G G T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr22:50657281G>T ENST00000248846.5 - 21 4776 c.4672C>A c.(4672-4674)Ctg>Atg p.L1558M TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1558 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) ACAGAGTTCAGCACCAGCGGG 0.637000 15 7 9.7654e-05 9.7654e-05 1 1 0 INSRR 3645 broad.mit.edu 37 1 156816315 156816315 + Silent SNP A A T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr1:156816315A>T ENST00000368195.3 - 8 2202 c.1806T>A c.(1804-1806)ccT>ccA p.P602P NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 602 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTACCTGCAGGCAGCGTTC 0.582000 6 4 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809015 48809015 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr2:48809015A>G ENST00000309835.3 + 1 1253 c.1243A>G c.(1243-1245)Att>Gtt p.I415V STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I415V|STON1_ENST00000404752.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I415V|STON1_ENST00000406226.1_Missense_Mutation_p.I415V stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGAGCAAGAAATTTCCTTGGA 0.393000 30 43 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32053641 32053641 + Missense_Mutation SNP C C T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr6:32053641C>T ENST00000375244.3 - 7 3235 c.3034G>A c.(3034-3036)Gtc>Atc p.V1012I TNXB_ENST00000375247.2_Missense_Mutation_p.V1012I P22105 TENX_HUMAN tenascin XB 1099 Fibronectin type-III 2. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCTGGCGGACGTCCCCTGGC 0.657000 25 41 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 284621 284621 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr11:284621G>A ENST00000534750.1 + 7 2721 c.2516G>A c.(2515-2517)gGa>gAa p.G839E NLRP6_ENST00000312165.5_Missense_Mutation_p.G840E NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 840 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CAGCACCAGGGATGCGGCCTG 0.692000 3 17 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35039553 35039553 + Missense_Mutation SNP C C T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr5:35039553C>T ENST00000231420.6 - 3 438 c.238G>A c.(238-240)Gca>Aca p.A80T NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 80 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TGGAAATATGCCGTCACCACA 0.473000 4 74 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 980571 980571 + Frame_Shift_Del DEL C C - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr1:980571delC ENST00000379370.2 + 13 2335 c.2285delC c.(2284-2286)gcfs p.A762fs NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 762 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-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)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCGCCTGTGGCCCCCTTACAC 0.672 2 4 --- --- --- --- SCN5A 6331 broad.mit.edu 37 3 38655531 38655531 + Frame_Shift_Del DEL C C - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr3:38655531delC ENST00000413689.1 - 6 831 c.638delG c.(637-639)gcfs p.G213fs SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G213fs NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 213 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGACAAATTGCCTAGTTTTAT 0.463 2 4 --- --- --- --- BDH1 622 broad.mit.edu 37 3 197273266 197273266 + Frame_Shift_Del DEL T T - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr3:197273266delT ENST00000392379.1 - 3 450 c.49delA c.(49-51)ccfs p.T17fs BDH1_ENST00000392378.2_Frame_Shift_Del_p.T17fs|BDH1_ENST00000441275.1_Intron|BDH1_ENST00000358186.2_Frame_Shift_Del_p.T17fs NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 17 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GCACTTAGGGTTTTTCCTGGG 0.552 33 50 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7084784 7084784 + RNA DEL T T - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr12:7084784delT ENST00000546220.1 + 0 651 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding TCAGCCATAGTTTTCCTGCCC 0.438 9 17 --- --- --- --- UBE2Q2P2 100134869 broad.mit.edu 37 15 83040944 83040944 + RNA DEL T T - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr15:83040944delT ENST00000558477.1 + 0 233 NR_004847.2 AACAAAAATCTTTTTTTTTTT 0.313 2 4 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41721866 41721866 + Frame_Shift_Del DEL C C - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr22:41721866delC ENST00000352645.4 + 4 486 c.229delC c.(229-231)ccfs p.P77fs ZC3H7B_ENST00000351589.4_Frame_Shift_Del_p.P77fs NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 77 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GGTGGCCCTGCCCCGGGAGCT 0.592 2 4 --- --- --- ---