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 VCAN 1462 broad.mit.edu 37 5 82849281 82849281 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr5:82849281C>T ENST00000265077.3 + 11 10157 c.9592C>T c.(9592-9594)Cgt>Tgt p.R3198C VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.R2211C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1396C|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.R457C|VCAN_ENST00000342785.4_Missense_Mutation_p.R1444C NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3198 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.R3198S(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACGGGAATGCCGTCTGCAGGG 0.473000 62 156 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137322781 137322781 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr6:137322781C>T ENST00000367748.1 - 6 1829 c.1243G>A c.(1243-1245)Gct>Act p.A415T IL20RA_ENST00000316649.5_Missense_Mutation_p.A526T|IL20RA_ENST00000541547.1_Missense_Mutation_p.A477T Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 526 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CTGTCTGGAGCCGGCTCCTCA 0.527000 5 193 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80749925 80749925 + Missense_Mutation SNP A A G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr6:80749925A>G ENST00000509894.1 + 20 3146 c.2317A>G c.(2317-2319)Agg>Ggg p.R773G TTK_ENST00000369798.2_Missense_Mutation_p.R774G|TTK_ENST00000230510.3_Missense_Mutation_p.R773G P33981 TTK_HUMAN TTK protein kinase 774 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TTGTTTAAAAAGGGACCCAAA 0.284000 3 78 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 9934822 9934822 + Missense_Mutation SNP T T A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr16:9934822T>A ENST00000396573.2 - 7 1777 c.1468A>T c.(1468-1470)Aac>Tac p.N490Y GRIN2A_ENST00000396575.2_Missense_Mutation_p.N490Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N490Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.N490Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N490Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N333Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 490 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACACATTGTTAACTTTCTTG 0.443000 8 144 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100079071 100079071 + Missense_Mutation SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr2:100079071G>A ENST00000258428.3 - 3 296 c.68C>T c.(67-69)gCt>gTt p.A23V REV1_ENST00000393445.3_Missense_Mutation_p.A23V NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 23 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GACCTTGGCAGCCATATACCC 0.358000 Direct reversal of damage 8 194 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139734111 139734111 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr7:139734111C>T ENST00000263549.3 - 8 2218 c.1345G>A c.(1345-1347)Gtc>Atc p.V449I PARP12_ENST00000470515.1_5'UTR NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 449 WWE 2. VQKNLVY -> MGGFGQH (in Ref. 4). nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) GTGCCATAGACCAGGTTTTTC 0.418000 12 27 0 0 1 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226605 152226605 + Missense_Mutation SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr2:152226605G>A ENST00000243347.3 + 4 541 c.466G>A c.(466-468)Gaa>Aaa p.E156K NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 156 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) AAATGAGTACGAAGATAACCA 0.388000 10 126 0 0 1 0 0 NUP88 4927 broad.mit.edu 37 17 5312118 5312118 + Silent SNP T T A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:5312118T>A ENST00000573584.1 - 5 1301 c.792A>T c.(790-792)gcA>gcT p.A264A NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 264 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 ACAGTGGGTATGCCACTACTT 0.448000 26 82 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 4 91 0 0 1 0 0 TMC6 11322 broad.mit.edu 37 17 76109646 76109646 + Silent SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:76109646C>T ENST00000590602.1 - 19 2496 c.2337G>A c.(2335-2337)gaG>gaA p.E779E TMC6_ENST00000591436.1_Silent_p.E358E|TMC6_ENST00000392467.3_Silent_p.E779E|TMC6_ENST00000322914.3_Silent_p.E779E|TMC6_ENST00000322933.4_Silent_p.E358E|TMC6_ENST00000306591.7_Silent_p.E428E|TMC6_ENST00000592076.1_5'UTR Q7Z403 TMC6_HUMAN transmembrane channel-like 6 779 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TCTCCTCCCTCTCCTTCCTCT 0.567000 19 104 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49583402 49583402 + Missense_Mutation SNP G G T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr6:49583402G>T ENST00000371175.4 - 4 601 c.575C>A c.(574-576)tCt>tAt p.S192Y RHAG_ENST00000229810.7_Missense_Mutation_p.S192Y NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 192 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TCTCAGTCCAGATCGATACAA 0.453000 48 79 2.74695e-27 2.84869e-27 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 65 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56690826 56690826 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:56690826C>T ENST00000389934.3 - 9 1078 c.961G>A c.(961-963)Gag>Aag p.E321K TEX14_ENST00000240361.8_Missense_Mutation_p.E327K|TEX14_ENST00000349033.5_Missense_Mutation_p.E321K NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 327 Protein kinase. K -> E (in a gastric adenocarcinoma sample; somatic mutation). cytoplasm ATP binding|protein kinase activity p.E321K(1) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTGATGCGCTCGTACACAAGG 0.502000 8 148 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64880891 64880891 + Missense_Mutation SNP A A G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:64880891A>G ENST00000169565.3 + 4 683 c.683A>G c.(682-684)gAc>gGc p.D228G CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 0 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TGGACCCCGGACCACCCACTC 0.602000 51 101 0 0 1 0 0 HTRA3 94031 broad.mit.edu 37 4 8293208 8293208 + Missense_Mutation SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr4:8293208G>A ENST00000307358.2 + 4 1024 c.820G>A c.(820-822)Gtc>Atc p.V274I HTRA3_ENST00000382512.3_Missense_Mutation_p.V274I NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 274 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 AACGGGCATCGTCAGCACTGC 0.632000 24 44 0 0 1 0 0 PVR 5817 broad.mit.edu 37 19 45162043 45162043 + Missense_Mutation SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr19:45162043G>A ENST00000425690.3 + 6 1324 c.1025G>A c.(1024-1026)cGt>cAt p.R342H PVR_ENST00000344956.4_Intron|PVR_ENST00000406449.4_Missense_Mutation_p.R342H|PVR_ENST00000403059.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 342 adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) GGCATATCCCGTAACGCCATC 0.468000 3 81 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 4 130 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29454624 29454624 + Silent SNP G G A rs148359929 byFrequency TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr6:29454624G>A ENST00000377127.3 - 1 1114 c.1056C>T c.(1054-1056)atC>atT p.I352I NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 352 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 CCATTGGGTCGATGCCAGCTG 0.517000 87 121 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480147 73480147 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr8:73480147C>T ENST00000523207.1 + 2 766 c.178C>T c.(178-180)Cgc>Tgc p.R60C NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 60 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GCCCAGGACGCGCCTGGGGAA 0.542000 12 109 0 0 1 0 0 HYAL3 8372 broad.mit.edu 37 3 50332974 50332974 + Silent SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr3:50332974G>A ENST00000336307.1 - 2 332 c.60C>T c.(58-60)ggC>ggT p.G20G HYAL3_ENST00000450982.1_Silent_p.G20G|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Silent_p.G20G|HYAL3_ENST00000513170.1_Intron NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 20 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GTAGGGGCTGGCCACAACCCA 0.627000 3 33 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79945160 79945160 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr13:79945160C>T ENST00000438737.2 - 5 994 c.554G>A c.(553-555)cGa>cAa p.R185Q RBM26_ENST00000438724.1_Missense_Mutation_p.R185Q|RBM26_ENST00000267229.7_Missense_Mutation_p.R185Q Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 185 Arg-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) ACTCCAACTTCGACTTCGACT 0.453000 9 142 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H 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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 32 86 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 65 0 0 1 0 0 PCDHB5 0 broad.mit.edu 37 5 140516689 140516689 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr5:140516689C>T ENST00000231134.5 + 1 1890 c.1673C>T c.(1672-1674)cCc>cTc p.P558L NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 558 Cadherin 5. 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) GACAACTCGCCCTTCGTGCTG 0.716000 8 34 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222321395 222321395 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr2:222321395C>T ENST00000281821.2 - 7 1582 c.1541G>A c.(1540-1542)cGa>cAa p.R514Q EPHA4_ENST00000409854.1_Missense_Mutation_p.R514Q|EPHA4_ENST00000409938.1_Missense_Mutation_p.R514Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R463Q NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 514 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TGTCCTGGCTCGCACGTGGAA 0.512000 13 92 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791796 42791796 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr19:42791796C>T ENST00000572681.2 + 6 3477 c.3409C>T c.(3409-3411)Cgg>Tgg p.R1137W CIC_ENST00000160740.3_Missense_Mutation_p.R228W|CIC_ENST00000575354.2_Missense_Mutation_p.R228W Q96RK0 CIC_HUMAN capicua transcriptional repressor 228 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCAGGACAACCGGACCGTCAG 0.622000 """Mis, F, S""" oligodendroglioma 13 71 0 0 1 0 0 GSTA3 2940 broad.mit.edu 37 6 52767170 52767170 + Silent SNP G G A rs147033582 TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr6:52767170G>A ENST00000211122.3 - 4 311 c.246C>T c.(244-246)taC>taT p.Y82Y GSTA3_ENST00000370968.1_Silent_p.Y32Y NM_000847.4 NP_000838.3 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 82 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2) 10 Lung NSC(77;0.0912) Glutathione(DB00143) TGTCTTTCCCGTAGAGGTTGT 0.448000 11 322 0 0 1 0 0 PTER 9317 broad.mit.edu 37 10 16526578 16526578 + Silent SNP T T C TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr10:16526578T>C ENST00000378000.1 + 3 441 c.195T>C c.(193-195)taT>taC p.Y65Y PTER_ENST00000298942.3_Silent_p.Y65Y|PTER_ENST00000423462.2_Silent_p.Y65Y|PTER_ENST00000535784.2_Silent_p.Y65Y NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 65 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 AAAACGCCTATTCCCATAAAG 0.403000 4 83 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028924 59028924 + Missense_Mutation SNP A A C TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr19:59028924A>C ENST00000594051.1 - 2 597 c.117T>G c.(115-117)atT>atG p.I39M ZBTB45_ENST00000600990.1_Missense_Mutation_p.I39M|ZBTB45_ENST00000354590.3_Missense_Mutation_p.I39M Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 39 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) AAGCTTCACGAATGCGCACAG 0.602000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 43 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 5 124 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79421075 79421075 + Splice_Site SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr4:79421075G>A ENST00000264895.6 + 61 9756 c.9316_splice c.e61+1 p.G3106_splice NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3101 Calx-beta 5. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GTTCAGTCCCGGTAATTGAAT 0.443000 18 177 0 0 1 0 0 SRPRB 58477 broad.mit.edu 37 3 133524790 133524790 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr3:133524790C>T ENST00000466490.2 + 2 383 c.98C>T c.(97-99)aCg>aTg p.T33M NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 33 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 CTGCAGCAGACGGACCCAACG 0.672000 5 103 0 0 1 0 0 CCDC113 29070 broad.mit.edu 37 16 58296338 58296338 + Missense_Mutation SNP A A G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr16:58296338A>G ENST00000219299.4 + 6 756 c.677A>G c.(676-678)aAg>aGg p.K226R CCDC113_ENST00000443128.2_Missense_Mutation_p.K172R NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 226 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 CAGCAGTTGAAGATAGAGAAC 0.428000 49 68 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782790 134782790 + Silent SNP G G A rs113239442 TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr5:134782790G>A ENST00000503143.2 - 1 248 c.9C>T c.(7-9)taC>taT p.Y3Y TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 3 nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTGCTGCTCCGTAATGCATAG 0.527000 5 46 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766101 13766101 + Missense_Mutation SNP A A G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr5:13766101A>G ENST00000265104.4 - 59 10189 c.10085T>C c.(10084-10086)tTt>tCt p.F3362S DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3362 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTTCTGTAAAAAGTTCCCTGC 0.413000 Kartagener syndrome 65 97 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11671916 11671916 + Silent SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:11671916C>T ENST00000262442.3 + 37 7385 c.7317C>T c.(7315-7317)ttC>ttT p.F2439F DNAH9_ENST00000454412.2_Silent_p.F2439F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2439 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCCCCCAGTTCGAATTTGACC 0.542000 5 117 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205887977 205887977 + Missense_Mutation SNP G G C TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr1:205887977G>C ENST00000367135.3 - 19 2360 c.2247C>G c.(2245-2247)aaC>aaG p.N749K SLC26A9_ENST00000340781.4_Missense_Mutation_p.N749K|SLC26A9_ENST00000367134.2_Missense_Mutation_p.N749K NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 749 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CCCCTTGGAAGTTGTGTCCTG 0.502000 OREG0014164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 241 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 65 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42798848 42798848 + Missense_Mutation SNP G G C TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr19:42798848G>C ENST00000572681.2 + 20 7206 c.7138G>C c.(7138-7140)Gtc>Ctc p.V2380L CIC_ENST00000160740.3_Missense_Mutation_p.V1472L|CIC_ENST00000575354.2_Missense_Mutation_p.V1474L Q96RK0 CIC_HUMAN capicua transcriptional repressor 1474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.V1474F(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCGGGCCCTGGTCATGCAGCT 0.602000 """Mis, F, S""" oligodendroglioma 5 61 0 0 1 0 0 CRYBB2 1415 broad.mit.edu 37 22 25625545 25625545 + Splice_Site SNP C C T rs4049504 TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr22:25625545C>T ENST00000398215.2 + 5 620 c.449_splice c.e5+1 p.T150_splice NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 150 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 CAGAGTGGCACGTAAGTGCGT 0.572000 10 42 0 0 1 0 0 QTRT1 81890 broad.mit.edu 37 19 10823935 10823935 + Missense_Mutation SNP A A T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr19:10823935A>T ENST00000250237.5 + 10 1211 c.1201A>T c.(1201-1203)Aca>Tca p.T401S NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 401 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) TGTGGGAATCACACTGGGCTG 0.577000 34 62 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45542633 45542633 + Missense_Mutation SNP A A G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr14:45542633A>G ENST00000361462.2 + 20 5374 c.5191A>G c.(5191-5193)Aca>Gca p.T1731A FAM179B_ENST00000361577.3_Missense_Mutation_p.T1678A|FAM179B_ENST00000382233.2_3'UTR Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1678 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 ACGAACAGCCACAGCTAAATT 0.418000 3 103 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125831636 125831636 + Missense_Mutation SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr3:125831636C>T ENST00000393434.2 - 19 2519 c.2170G>A c.(2170-2172)Gtg>Atg p.V724M ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V623M|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V724M|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V734M NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 724 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) ACTCTCCGCACGAACTCATCA 0.577000 9 126 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 107 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112888139 112888139 + Missense_Mutation SNP C C G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr12:112888139C>G ENST00000351677.2 + 3 353 c.155C>G c.(154-156)aCc>aGc p.T52S PTPN11_ENST00000392597.1_Missense_Mutation_p.T52S NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 52 SH2 1. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.T52S(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 GGAGCTGTCACCCACATCAAG 0.433000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 50 80 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791728 42791728 + Missense_Mutation SNP A A G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr19:42791728A>G ENST00000572681.2 + 6 3409 c.3341A>G c.(3340-3342)aAt>aGt p.N1114S CIC_ENST00000160740.3_Missense_Mutation_p.N205S|CIC_ENST00000575354.2_Missense_Mutation_p.N205S Q96RK0 CIC_HUMAN capicua transcriptional repressor 205 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGGCCCATGAATGCCTTCATG 0.627000 """Mis, F, S""" oligodendroglioma 12 78 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6479212 6479212 + Splice_Site SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr8:6479212G>A ENST00000344683.5 + 13 2528 c.2452_splice c.e13+1 p.D818_splice MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000515608.1_RNA|CTD-2541M15.1_ENST00000522897.1_RNA NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 818 BRCT 3. microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) ATGGGTCTTAGGTAAGAATCC 0.597000 11 122 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100502164 100502164 + Splice_Site SNP C C T TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr12:100502164C>T ENST00000279907.7 - 2 419 c.207_splice c.e2+1 p.R69_splice UHRF1BP1L_ENST00000356828.3_Splice_Site_p.R69_splice NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 69 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 AAAGTCTCACCCTAATGGACG 0.338000 26 60 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 2 4 --- --- --- --- ARL14EP 120534 broad.mit.edu 37 11 30352754 30352754 + Frame_Shift_Del DEL A A - TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr11:30352754delA ENST00000282032.3 + 2 474 c.259delA c.(259-261)aafs p.K88fs NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein GAAATTAGCCAAAAAAAATTT 0.338 7 179 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 8 221 --- --- --- --- SCARB1 949 broad.mit.edu 37 12 125263027 125263028 + Frame_Shift_Ins INS - - G TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr12:125263027_125263028insG ENST00000339570.5 - 12 1702_1703 c.1506_1507insC c.(1504-1509)ccgcccfs p.P503fs SCARB1_ENST00000415380.2_3'UTR|SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000261693.6_3'UTR NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 0 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) GCTGTGGGGCTGGGGGGCTGTC 0.683 2 4 --- --- --- --- DHX37 57647 broad.mit.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr12:125465270_125465272delCTC ENST00000308736.2 - 4 600_602 c.502_504delGAG c.(502-504)del p.E168del NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 168 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E168delE(3) 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) CCGATTCCGActcctcctcctcc 0.690 3 5 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C C - TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr15:40631782delC ENST00000559313.1 - 3 309 c.294delG c.(292-294)ggfs p.G98fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 98 p.M99fs*3(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TCACAGCCATCCCCCCCTGCT 0.647 10 267 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 7 100 --- --- --- --- RP13-516M14.2 0 broad.mit.edu 37 17 80173535 80173535 + RNA DEL C C - rs112012232 TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 739e3612-208f-4004-a714-d0839f9b5e24 4e9b5d71-7edb-4c2f-b79f-eed7aff5a455 g.chr17:80173535delC ENST00000581303.1 + 0 1371 tccttccctgccccccacact 0.701 4 5 --- --- --- ---