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 SIPA1L2 57568 broad.mit.edu 37 1 232575079 232575079 + Missense_Mutation SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr1:232575079G>A ENST00000366630.1 - 14 4164 c.3806C>T c.(3805-3807)aCg>aTg p.T1269M SIPA1L2_ENST00000308942.4_Missense_Mutation_p.T343M|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T1269M Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1269 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCAGGGGGCCGTGTCGATGCC 0.642000 3 84 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659536 24659536 + RNA SNP C C T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr22:24659536C>T ENST00000414583.2 + 0 3061 NR_003714.1 GATCTCATCGCGGACACCACT 0.512000 5 30 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467459 74467459 + Missense_Mutation SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr15:74467459G>A ENST00000249842.3 + 2 617 c.260G>A c.(259-261)cGc>cAc p.R87H RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.R87H NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 87 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 AATGAGATCCGCACGGTGGCC 0.637000 3 42 0 0 1 0 0 FBLN5 10516 broad.mit.edu 37 14 92361349 92361349 + Silent SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr14:92361349G>A ENST00000267620.10 - 6 739 c.570C>T c.(568-570)ggC>ggT p.G190G FBLN5_ENST00000342058.4_Silent_p.G149G|FBLN5_ENST00000556154.1_Silent_p.G154G Q9UBX5 FBLN5_HUMAN fibulin 5 149 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) AGGTGTACCCGCCTTCAGTAT 0.522000 44 42 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515200 140515200 + Missense_Mutation SNP C C T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr5:140515200C>T ENST00000231134.5 + 1 401 c.184C>T c.(184-186)Cgg>Tgg p.R62W NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 62 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGGCCACTCGGGGCGCGCG 0.488000 57 59 0 0 1 0 0 TASP1 55617 broad.mit.edu 37 20 13514718 13514718 + Missense_Mutation SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr20:13514718G>A ENST00000337743.4 - 9 866 c.746C>T c.(745-747)gCt>gTt p.A249V TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR NM_017714.2 NP_060184.2 Q9H6P5 TASP1_HUMAN taspase, threonine aspartase, 1 249 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2) 31 ACTGGAGACAGCAGCAGCAAC 0.483000 3 43 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 44 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46726766 46726766 + Missense_Mutation SNP C C A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr11:46726766C>A ENST00000311764.2 + 5 1746 c.1516C>A c.(1516-1518)Cgt>Agt p.R506S NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCGGGCGTTTCGTCAGCGGGG 0.657000 3 74 1 1 1 1 0 SF3B1 23451 broad.mit.edu 37 2 198267483 198267483 + Missense_Mutation SNP C C T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr2:198267483C>T ENST00000335508.5 - 14 1965 c.1874G>A c.(1873-1875)cGt>cAt p.R625H NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 625 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.R625L(9)|p.R625P(2)|p.R625H(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTTGTGTTACGGACATACTC 0.438000 Mis myelodysplastic syndrome 28 13 0 0 1 0 0 GNA11 2767 broad.mit.edu 37 19 3118942 3118942 + Missense_Mutation SNP A A T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr19:3118942A>T ENST00000078429.4 + 5 868 c.626A>T c.(625-627)cAg>cTg p.Q209L AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 209 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.Q209L(80)|p.Q209P(2) endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GTGGGGGGCCAGCGGTCGGAG 0.612000 Mis uveal melanoma 39 48 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102739634 102739634 + Missense_Mutation SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr10:102739634G>A ENST00000210633.3 + 9 1091 c.1013G>A c.(1012-1014)cGc>cAc p.R338H MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R338H|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R338H|MRPL43_ENST00000318325.2_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 338 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) GCCATCTGCCGCTATGACCTG 0.602000 76 105 0 0 1 0 0 SRGAP2 23380 broad.mit.edu 37 1 206603533 206603533 + Missense_Mutation SNP C C G TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr1:206603533C>G ENST00000414007.1 + 10 1096 c.1096C>G c.(1096-1098)Ctg>Gtg p.L366V SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 506 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) GGCAATTCCTCTGGTGGTGGA 0.473000 116 70 0 0 1 0 0 MMP11 4320 broad.mit.edu 37 22 24123560 24123560 + Missense_Mutation SNP T T G TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr22:24123560T>G ENST00000215743.3 + 6 1091 c.1039T>G c.(1039-1041)Ttc>Gtc p.F347V NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 347 Hemopexin-like 2. collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) GGACGCTGCCTTCGAGGATGC 0.647000 5 10 0 0 1 0 0 ATP6V1A 523 broad.mit.edu 37 3 113505224 113505224 + Missense_Mutation SNP T T C TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr3:113505224T>C ENST00000273398.3 + 6 818 c.710T>C c.(709-711)cTt>cCt p.L237P ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 237 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTTGATGCCCTTTTTCCGTAA 0.423000 4 223 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304785 102304785 + RNA SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr15:102304785G>A ENST00000561463.1 + 0 12831 CGAGACTCGCGTGGGAAGAAG 0.592000 3 16 0 0 1 0 0 PNP 4860 broad.mit.edu 37 14 20942733 20942733 + Splice_Site SNP A A T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr14:20942733A>T ENST00000361505.5 + 3 430 c.285_splice c.e3+1 p.K95_splice NM_000270.3 NP_000261.2 P00491 PNPH_HUMAN purine nucleoside phosphorylase 95 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) CCACTCTGGAAGGTAAGTCAG 0.532000 42 47 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 659075 659075 + Nonsense_Mutation SNP C C T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr12:659075C>T ENST00000266383.5 + 10 1007 c.994C>T c.(994-996)Cga>Tga p.R332* NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 332 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CACCCTCTATCGAGGTAAGGC 0.627000 12 13 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52865661 52865661 + RNA SNP C C A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr13:52865661C>A ENST00000451298.1 - 0 31 RP11-64P12.8_ENST00000606031.1_RNA AAGGATGACACAATTGAATGA 0.289000 3 34 0.150653 0.157064 1 1 0 ZFAND4 93550 broad.mit.edu 37 10 46122243 46122243 + Missense_Mutation SNP T T G TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr10:46122243T>G ENST00000374366.3 - 8 1271 c.806A>C c.(805-807)cAt>cCt p.H269P ZFAND4_ENST00000344646.5_Missense_Mutation_p.H343P|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 343 zinc ion binding CAACTCCAAATGGGGTATCTG 0.428000 30 39 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 39 48 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314705 176314705 + Silent SNP C C T rs143340857 TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr5:176314705C>T ENST00000292432.5 - 11 1438 c.1347G>A c.(1345-1347)ccG>ccA p.P449P NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 449 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATCGCATTCCGGGGCCAGGA 0.652000 32 35 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136476824 136476824 + Silent SNP C C T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr6:136476824C>T ENST00000308191.6 + 8 942 c.639C>T c.(637-639)caC>caT p.H213H RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 213 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) CAGCAGCACACGATGTGGACC 0.488000 3 37 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 3 43 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617776 111617776 + Silent SNP G G A rs149121708 byFrequency TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr9:111617776G>A ENST00000374667.3 - 1 1463 c.435C>T c.(433-435)caC>caT p.H145H NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 145 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCAGCACAGCGTGCTCCTCGG 0.622000 34 36 0 0 1 0 0 SLC24A5 283652 broad.mit.edu 37 15 48426522 48426522 + Missense_Mutation SNP A A C TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr15:48426522A>C ENST00000341459.3 + 3 442 c.369A>C c.(367-369)ttA>ttC p.L123F SLC24A5_ENST00000449382.2_Missense_Mutation_p.L63F NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 123 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CTCCTGAATTAGTTACTGCTT 0.383000 21 19 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38135567 38135567 + Missense_Mutation SNP T T G TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr19:38135567T>G ENST00000351218.2 - 4 637 c.80A>C c.(79-81)cAg>cCg p.Q27P ZFP30_ENST00000514101.2_Missense_Mutation_p.Q27P|ZFP30_ENST00000392144.1_Missense_Mutation_p.Q27P|ZFP30_ENST00000589018.1_Missense_Mutation_p.Q27P NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAAATTCCTCTGATATGAGTT 0.383000 48 63 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149904215 149904215 + Silent SNP A A T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr1:149904215A>T ENST00000439741.2 - 11 1243 c.993T>A c.(991-993)tcT>tcA p.S331S MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Silent_p.S303S|MTMR11_ENST00000369140.3_Silent_p.S259S NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 331 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCTCAGCTACAGATGAATCTG 0.448000 112 105 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 4 36 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 58 0.00909568 0.00968888 1 1 0 OR1S1 219959 broad.mit.edu 37 11 57982680 57982680 + Missense_Mutation SNP T T C TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr11:57982680T>C ENST00000309433.6 + 1 464 c.464T>C c.(463-465)aTt>aCt p.I155T NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) AGGTTCGGCATTTTGCTCACA 0.468000 5 227 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 80 0 0 1 0 0 SNAI2 6591 broad.mit.edu 37 8 49832991 49832991 + Missense_Mutation SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr8:49832991G>A ENST00000396822.1 - 3 446 c.89C>T c.(88-90)tCc>tTc p.S30F SNAI2_ENST00000020945.1_Missense_Mutation_p.S30F O43623 SNAI2_HUMAN snail family zinc finger 2 30 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S30F(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) GAGATACGGGGAAATAATCAC 0.428000 86 87 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64329854 64329854 + Missense_Mutation SNP G G T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr11:64329854G>T ENST00000301891.4 + 4 1142 c.768G>T c.(766-768)agG>agT p.R256S SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R256S|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R256S NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 256 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GGGACTGGAGGACTCTCCAGC 0.637000 231 371 1.75812e-138 2.00343e-138 1 1 0 SON 6651 broad.mit.edu 37 21 34927682 34927682 + Missense_Mutation SNP C C A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr21:34927682C>A ENST00000356577.4 + 3 6620 c.6145C>A c.(6145-6147)Cgt>Agt p.R2049S SON_ENST00000381679.4_Missense_Mutation_p.R2049S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.R2049S|SON_ENST00000290239.6_Missense_Mutation_p.R2049S NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 2049 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 ATCACCCAAACGTCTGACAGA 0.393000 3 104 0.00909568 0.00968888 1 1 0 CDH23 64072 broad.mit.edu 37 10 73270925 73270925 + Missense_Mutation SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr10:73270925G>A ENST00000224721.6 + 5 390 c.385G>A c.(385-387)Gcg>Acg p.A129T CDH23_ENST00000299366.7_Missense_Mutation_p.A174T|CDH23_ENST00000461841.3_Missense_Mutation_p.A174T|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398809.4_Missense_Mutation_p.A129T|CDH23_ENST00000398842.3_Missense_Mutation_p.A129T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 129 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GAATGACAACGCGCCCACATT 0.582000 60 102 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 3 118 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 17 1 1 1 1 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 123 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71201984 71201984 + Missense_Mutation SNP G G C TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr11:71201984G>C ENST00000319023.2 + 17 1844 c.1656G>C c.(1654-1656)caG>caC p.Q552H NADSYN1_ENST00000539574.1_Missense_Mutation_p.Q292H|NADSYN1_ENST00000530055.1_Missense_Mutation_p.Q181H NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 552 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCTTCGTCCAGTTCTGCATCC 0.647000 33 202 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558816 129558816 + Missense_Mutation SNP G G T TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr12:129558816G>T ENST00000422113.2 - 9 3230 c.2904C>A c.(2902-2904)agC>agA p.S968R TMEM132D_ENST00000389441.4_Missense_Mutation_p.S506R NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 968 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTGTCCGGTTGCTTAACCCAA 0.463000 102 4 3.44186e-60 3.83298e-60 1 1 0 CCDC87 55231 broad.mit.edu 37 11 66359321 66359321 + Missense_Mutation SNP G G A TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr11:66359321G>A ENST00000333861.3 - 1 1233 c.1166C>T c.(1165-1167)cCa>cTa p.P389L NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 389 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CCCTGCAGCTGGGTGACGGGT 0.592000 164 40 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16699620 16699620 + Frame_Shift_Del DEL C C - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr5:16699620delC ENST00000513610.1 - 26 3949 c.3495delG c.(3493-3495)cgfs p.R1166fs MYO10_ENST00000515803.1_Frame_Shift_Del_p.R505fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.R505fs|MYO10_ENST00000427430.2_Frame_Shift_Del_p.R523fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.R523fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1166 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CAGAGTCACGCCGGTATGAAA 0.498 32 57 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 505 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAGGGTCCTTTTTCCAGCA 0.562 7 351 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 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 9 136 --- --- --- --- GDPD4 220032 broad.mit.edu 37 11 76928312 76928315 + Splice_Site DEL ATCT ATCT - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr11:76928312_76928315delATCT ENST00000376217.2 - 17 1791_1792 c.1540_splice c.e17-1 p.514_splice GDPD4_ENST00000315938.4_3'UTR Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 514 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CTATGTGCAAatctatctatctat 0.471 7 296 --- --- --- --- AMHR2 269 broad.mit.edu 37 12 53818999 53819001 + In_Frame_Del DEL CTG CTG - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr12:53818999_53819001delCTG ENST00000257863.4 + 4 555_557 c.475_477delCTG c.(475-477)del p.L162del AMHR2_ENST00000550311.1_In_Frame_Del_p.L162del|AMHR2_ENST00000379791.3_In_Frame_Del_p.L162del NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 162 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CCTCCTCCTCCTGCTGCTGCTGG 0.591 7 215 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88487681 88487681 + Frame_Shift_Del DEL T T - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr12:88487681delT ENST00000552810.1 - 28 3518 c.3175delA c.(3175-3177)tafs p.I1059fs CEP290_ENST00000397838.3_Frame_Shift_Del_p.I119fs|CEP290_ENST00000309041.7_Frame_Shift_Del_p.I1061fs|CEP290_ENST00000547691.2_Frame_Shift_Del_p.I119fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1059 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 AGCATAGTTATTTTTTTTGAA 0.338 7 46 --- --- --- --- LOC102725022 102725022 broad.mit.edu 37 15 31508534 31508536 + RNA DEL GGA GGA - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr15:31508534_31508536delGGA ENST00000559292.2 + 0 18 aggagcggtgggaggaggaggag 0.660 2 4 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45756158 45756158 + RNA DEL T T - rs143709087 TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr15:45756158delT ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA accaccaccatcaccatcacc 0.567 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 6033900 6033902 + RNA DEL CTC CTC - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr16:6033900_6033902delCTC ENST00000569895.1 + 0 436 cctcctcgttctcctcctcctcc 0.581 2 4 --- --- --- --- VPS53 55275 broad.mit.edu 37 17 465775 465775 + Frame_Shift_Del DEL G G - rs2075443 byFrequency TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr17:465775delG ENST00000437048.2 - 14 1670 c.1524delC c.(1522-1524)tafs p.Y508fs VPS53_ENST00000571805.1_Frame_Shift_Del_p.Y508fs|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Frame_Shift_Del_p.Y231fs|VPS53_ENST00000291074.5_Frame_Shift_Del_p.Y479fs|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Frame_Shift_Del_p.Y310fs NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 508 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TTTTCCAGGCGTATTCTCGGA 0.483 58 57 --- --- --- --- AC004231.2 0 broad.mit.edu 37 17 39098845 39098846 + RNA INS - - TCT rs149995604 by1000genomes TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr17:39098845_39098846insTCT ENST00000418393.1 + 0 385 cctcctcctcctcttcttctcc 0.515 4 2 --- --- --- --- LOC101927755 101927755 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 3 2 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16908642 16908642 + Frame_Shift_Del DEL T T - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73914542-306e-4dfb-a6d2-538baa7344f2 61178f55-37d8-4c86-b1f3-3480d4f7a494 g.chr19:16908642delT ENST00000524140.2 + 16 3822 c.3404delT c.(3403-3405)gtfs p.V1135fs NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1135 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGACGGCTGTTTTTGGTACT 0.552 7 554 --- --- --- ---