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 ZNF618 114991 broad.mit.edu 37 9 116812025 116812025 + Missense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr9:116812025C>T ENST00000288466.7 + 14 2263 c.2164C>T c.(2164-2166)Cgg>Tgg p.R722W ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.R815W NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 815 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GCAGAAGCTGCGGCCTGTGCC 0.627000 4 102 0 0 0.014758 0 0 SCD5 79966 broad.mit.edu 37 4 83557863 83557863 + Missense_Mutation SNP T T C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr4:83557863T>C ENST00000319540.4 - 4 1002 c.683A>G c.(682-684)tAt>tGt p.Y228C NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 228 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TGAGATGGTATAGCGGAGAAT 0.562000 7 66 0 0 0.001984 0 0 ANKRD46 157567 broad.mit.edu 37 8 101534835 101534835 + Missense_Mutation SNP T T A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr8:101534835T>A ENST00000520311.1 - 5 1438 c.635A>T c.(634-636)tAt>tTt p.Y212F ANKRD46_ENST00000519316.1_Missense_Mutation_p.Y159F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.Y212F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.Y212F|ANKRD46_ENST00000520552.1_Splice_Site_p.Y212_splice NM_001270378.1 NP_001257307.1 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 212 integral to membrane kidney(1)|large_intestine(2)|lung(4) 7 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) CCCACTCACATAATAAGCAAT 0.488000 11 71 0 0 0.010729 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 30 0 0 0.004672 0 0 HERC1 8925 broad.mit.edu 37 15 63901366 63901366 + Missense_Mutation SNP T T C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr15:63901366T>C ENST00000443617.2 - 78 14587 c.14500A>G c.(14500-14502)Atc>Gtc p.I4834V NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4834 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CAGTTGTTGATGGCATAGCGC 0.602000 7 30 0 0 0.006214 0 0 LAMA1 284217 broad.mit.edu 37 18 7036073 7036073 + Silent SNP G G A rs138401018 byFrequency TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr18:7036073G>A ENST00000389658.3 - 13 1845 c.1752C>T c.(1750-1752)ggC>ggT p.G584G NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 584 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAGGAATCCGCCAAACGCAG 0.453000 4 53 0 0 0.001168 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261086 21261086 + Missense_Mutation SNP A A G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr16:21261086A>G ENST00000311620.5 + 2 272 c.199A>G c.(199-201)Act>Gct p.T67A NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 67 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) CTGGGGAAACACTCCTCTACA 0.463000 8 85 0 0 0.004482 0 0 TCOF1 6949 broad.mit.edu 37 5 149755650 149755650 + Silent SNP A A G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr5:149755650A>G ENST00000451292.1 + 13 2007 c.1899A>G c.(1897-1899)aaA>aaG p.K633K TCOF1_ENST00000445265.2_Silent_p.K556K|TCOF1_ENST00000377797.3_Silent_p.K633K|TCOF1_ENST00000439160.2_Silent_p.K633K|TCOF1_ENST00000504761.2_Silent_p.K633K|TCOF1_ENST00000323668.7_Silent_p.K556K|TCOF1_ENST00000513346.1_Silent_p.K633K|TCOF1_ENST00000394269.3_Silent_p.K633K Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 633 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCAGGCAAAACCAGCTCTGA 0.572000 16 223 0 0 0.004007 0 0 BNIP1 662 broad.mit.edu 37 5 172578699 172578699 + Splice_Site SNP T T C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr5:172578699T>C ENST00000231668.9 + 3 410 c.e3+2 BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Splice_Site NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACCTTCAGTGTGAGTATTTGT 0.368000 3 111 0 0 0.014758 0 0 GTF2E1 2960 broad.mit.edu 37 3 120489647 120489647 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr3:120489647G>A ENST00000283875.5 + 3 614 c.521G>A c.(520-522)cGc>cAc p.R174H NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 174 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) AAAGATGCACGCACACTTTTG 0.423000 50 330 0 0 0.014410 0 0 CIC 23152 broad.mit.edu 37 19 42799059 42799059 + Missense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr19:42799059C>T ENST00000572681.2 + 21 7329 c.7261C>T c.(7261-7263)Cgc>Tgc p.R2421C CIC_ENST00000575354.2_Missense_Mutation_p.R1515C|CIC_ENST00000160740.3_Missense_Mutation_p.R1513C Q96RK0 CIC_HUMAN capicua transcriptional repressor 1515 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) CCGTGAGGTGCGCCAGAAGAT 0.632000 """Mis, F, S""" oligodendroglioma 8 60 0 0 0.004482 0 0 ZMYM2 7750 broad.mit.edu 37 13 20638648 20638648 + Missense_Mutation SNP A A G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr13:20638648A>G ENST00000382869.3 + 19 3346 c.3095A>G c.(3094-3096)gAa>gGa p.E1032G ZMYM2_ENST00000382870.2_Missense_Mutation_p.E412G|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1032G|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E1032G NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 1032 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) TTTGGCGAAGAATATGAGGAA 0.343000 3 8 0 0 0.009096 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412675 139412675 + Missense_Mutation SNP T T C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr9:139412675T>C ENST00000277541.6 - 7 1244 c.1169A>G c.(1168-1170)aAc>aGc p.N390S NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 390 EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.N390S(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATTGACAGGGTTGGTGTCGCA 0.662000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 18 0 0 0.014758 0 0 RP11-399D6.2 0 broad.mit.edu 37 9 22823377 22823377 + RNA SNP A A G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr9:22823377A>G ENST00000436786.1 + 0 1512 NR_038977.1 tcccacattaatgacatcaaa 0.527000 3 58 0 0 0.004672 0 0 GID4 79018 broad.mit.edu 37 17 17948505 17948505 + Missense_Mutation SNP T T G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr17:17948505T>G ENST00000268719.4 + 2 656 c.483T>G c.(481-483)atT>atG p.I161M GID4_ENST00000376345.3_Missense_Mutation_p.I161M NM_024052.4 NP_076957.3 GID complex subunit 4 ACTTGAAGATTAAAGGCCTTA 0.483000 13 90 0 0 0.006122 0 0 MDN1 23195 broad.mit.edu 37 6 90428622 90428622 + Missense_Mutation SNP A A G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr6:90428622A>G ENST00000369393.3 - 42 6300 c.6185T>C c.(6184-6186)gTc>gCc p.V2062A MDN1_ENST00000428876.1_Missense_Mutation_p.V2062A Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2062 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GACCAGGATGACCATCCAGCT 0.562000 3 102 0 0 0.004672 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 29 66 0 0 0.012213 0 0 COL1A1 1277 broad.mit.edu 37 17 48264128 48264128 + Silent SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr17:48264128G>A ENST00000225964.5 - 48 3805 c.3687C>T c.(3685-3687)ctC>ctT p.L1229L NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1229 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TGTCCACCTCGAGGTCACGGT 0.627000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 11 284 0 0 0.013537 0 0 CSRNP2 81566 broad.mit.edu 37 12 51470329 51470329 + Missense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr12:51470329C>T ENST00000228515.1 - 2 313 c.16G>A c.(16-18)Ggc>Agc p.G6S NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 6 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 AGACCCGAGCCCGTGAATGCA 0.522000 9 153 0 0 0.006214 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95119548 95119548 + Nonsense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr5:95119548C>T ENST00000379982.3 + 10 2012 c.1504C>T c.(1504-1506)Caa>Taa p.Q502* GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron|RHOBTB3_ENST00000504179.1_Nonsense_Mutation_p.Q133* NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 502 Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) CGAGATGTACCAAGTGTCCAG 0.468000 14 197 0 0 0.007413 0 0 OR1S2 219958 broad.mit.edu 37 11 57970708 57970708 + Missense_Mutation SNP T T C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr11:57970708T>C ENST00000302592.6 - 1 945 c.946A>G c.(946-948)Aag>Gag p.K316E NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TTGATGAGCTTTCTCAGGGCA 0.413000 5 221 0 0 0.010729 0 0 HERC2 8924 broad.mit.edu 37 15 28389059 28389059 + Missense_Mutation SNP T T C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr15:28389059T>C ENST00000261609.7 - 74 11486 c.11378A>G c.(11377-11379)aAt>aGt p.N3793S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3793 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCAGCCTATTTATGTTAAT 0.423000 5 138 0 0 0.014758 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798086 55798086 + Missense_Mutation SNP C C G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr11:55798086C>G ENST00000313555.1 + 1 192 c.192C>G c.(190-192)agC>agG p.S64R NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) ATTTTCTTAGCAACTTATCTT 0.348000 7 57 0 0 0.001984 0 0 IGLV1-50 0 broad.mit.edu 37 22 22682036 22682036 + RNA SNP G G A rs113036480 TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr22:22682036G>A ENST00000390291.2 + 0 269 TATGGTAACAGCAATCGGCCC 0.567000 5 370 0 0 0.001168 0 0 HERC2 8924 broad.mit.edu 37 15 28460828 28460828 + Missense_Mutation SNP G G A rs140060040 byFrequency TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr15:28460828G>A ENST00000261609.7 - 39 6257 c.6149C>T c.(6148-6150)aCg>aTg p.T2050M NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2050 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CATGAGCAGCGTGATCCACTG 0.632000 12 16 0 0 0.013537 0 0 PDGFD 80310 broad.mit.edu 37 11 103870852 103870852 + Nonsense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr11:103870852G>A ENST00000302251.5 - 2 689 c.238C>T c.(238-240)Cag>Tag p.Q80* PDGFD_ENST00000393158.2_Nonsense_Mutation_p.Q86* NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 86 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GTATTCTCCTGAGAGTGAAGC 0.458000 14 202 0 0 0.020292 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959418 117959418 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chrX:117959418G>A ENST00000310164.2 + 4 718 c.211G>A c.(211-213)Gtc>Atc p.V71I NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding p.V71I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 agtcaatggcgtcctgccaga 0.557000 18 76 0 0 0.004990 0 0 TMEM104 54868 broad.mit.edu 37 17 72832630 72832630 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr17:72832630G>A ENST00000335464.5 + 10 1457 c.1295G>A c.(1294-1296)gGc>gAc p.G432D TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G432D|TMEM104_ENST00000417024.2_Intron NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 432 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GCGGGCACCGGCATCCAGTAC 0.652000 4 49 0 0 0.014758 0 0 RDX 5962 broad.mit.edu 37 11 110134885 110134885 + Silent SNP A A C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr11:110134885A>C ENST00000343115.4 - 5 586 c.267T>G c.(265-267)gtT>gtG p.V89V RDX_ENST00000405097.1_Silent_p.V89V|RDX_ENST00000528498.1_Silent_p.V89V|RDX_ENST00000530301.1_Silent_p.V57V|RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Intron NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 89 FERM. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) ATTCCTCAGAAACATCTTCAG 0.343000 7 56 0 0 0.003080 0 0 GPAT2 150763 broad.mit.edu 37 2 96691942 96691942 + Missense_Mutation SNP A A G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr2:96691942A>G ENST00000434632.1 - 12 1603 c.1144T>C c.(1144-1146)Ttt>Ctt p.F382L GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L|GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 382 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 TGCAGGGAAAAGGGCTGAGCT 0.647000 3 81 0 0 0.004672 0 0 UGT1A6 0 broad.mit.edu 37 2 234681041 234681041 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr2:234681041G>A ENST00000305139.6 + 5 1574 c.1435G>A c.(1435-1437)Gac>Aac p.D479N UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A8_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A1_ENST00000305208.5_Missense_Mutation_p.D480N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CGCAGCCCACGACCTCACCTG 0.597000 5 224 0 0 0.001168 0 0 MED7 9443 broad.mit.edu 37 5 156566369 156566369 + Missense_Mutation SNP T T C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr5:156566369T>C ENST00000286317.5 - 2 455 c.74A>G c.(73-75)aAt>aGt p.N25S MED7_ENST00000420343.1_Missense_Mutation_p.N25S NM_004270.4 NP_004261.1 O43513 MED7_HUMAN mediator complex subunit 7 25 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2) 7 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCTTGAATATTTTCATCCGT 0.438000 10 85 0 0 0.006214 0 0 C3orf30 152405 broad.mit.edu 37 3 118870125 118870125 + Silent SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr3:118870125C>T ENST00000295622.1 + 3 1637 c.1597C>T c.(1597-1599)Ctg>Ttg p.L533L RP11-484M3.5_ENST00000490594.1_Intron NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 533 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GAATTTTATGCTGTGCCAGGT 0.363000 4 283 0 0 0.014758 0 0 FSD1 79187 broad.mit.edu 37 19 4311913 4311913 + Missense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr19:4311913C>T ENST00000221856.6 + 7 712 c.565C>T c.(565-567)Ccg>Tcg p.P189S FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.P189S NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 189 Fibronectin type-III. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCGCATGCCGGATGAGGA 0.632000 4 81 0 0 0.014758 0 0 GPR87 0 broad.mit.edu 37 3 151012049 151012049 + Missense_Mutation SNP A A T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr3:151012049A>T ENST00000260843.4 - 3 1449 c.985T>A c.(985-987)Tca>Aca p.S329T MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 329 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGATATTTGATTTTTTGAAC 0.358000 7 163 0 0 0.001984 0 0 CEP170B 283638 broad.mit.edu 37 14 105353382 105353382 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr14:105353382G>A ENST00000453495.1 + 12 3037 c.2809G>A c.(2809-2811)Gag>Aag p.E937K CEP170B_ENST00000418279.1_Missense_Mutation_p.E866K|CEP170B_ENST00000556508.1_Missense_Mutation_p.E866K|CEP170B_ENST00000414716.3_Missense_Mutation_p.E936K centrosomal protein 170B TGTGGATGCCGAGTGTGAGGG 0.662000 30 41 0 0 0.008361 0 0 BCKDK 10295 broad.mit.edu 37 16 31121057 31121057 + Missense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr16:31121057C>T ENST00000394951.1 + 5 951 c.328C>T c.(328-330)Cgc>Tgc p.R110C BCKDK_ENST00000287507.3_Missense_Mutation_p.R110C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R110C|BCKDK_ENST00000219794.6_Missense_Mutation_p.R110C O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 110 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 CAAGGGCTTCCGCTGCCTTCC 0.587000 11 96 0 0 0.010729 0 0 RAD21 5885 broad.mit.edu 37 8 117869555 117869555 + Missense_Mutation SNP A A C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr8:117869555A>C ENST00000297338.2 - 6 926 c.639T>G c.(637-639)gaT>gaG p.D213E RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 213 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CCTTATATTGATCTTCATATT 0.333000 15 109 0 0 0.003163 0 0 GTSE1 51512 broad.mit.edu 37 22 46704680 46704680 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr22:46704680G>A ENST00000454366.1 + 4 814 c.602G>A c.(601-603)cGg>cAg p.R201Q NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 182 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule p.R182H(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CGCCTCACCCGGGCGCCGGGG 0.687000 4 181 0 0 0.009096 0 0 KCNH8 131096 broad.mit.edu 37 3 19554646 19554646 + Missense_Mutation SNP A A C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr3:19554646A>C ENST00000328405.2 + 13 2530 c.2264A>C c.(2263-2265)cAa>cCa p.Q755P NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 755 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 AGCTTAAAGCAACTGGCCTCG 0.517000 4 135 0 0 0.009096 0 0 PIK3CA 5290 broad.mit.edu 37 3 178951958 178951958 + Missense_Mutation SNP A A G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr3:178951958A>G ENST00000263967.3 + 21 3170 c.3013A>G c.(3013-3015)Atg>Gtg p.M1005V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1005 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1005V(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTCTCAATGATGCTTGGCTC 0.388000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 10 101 0 0 0.008291 0 0 VPS13C 54832 broad.mit.edu 37 15 62201315 62201315 + Missense_Mutation SNP T T C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr15:62201315T>C ENST00000261517.5 - 65 8927 c.8854A>G c.(8854-8856)Atc>Gtc p.I2952V VPS13C_ENST00000395896.4_Missense_Mutation_p.I2952V|VPS13C_ENST00000395898.3_Missense_Mutation_p.I2909V|VPS13C_ENST00000249837.3_Missense_Mutation_p.I2909V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2952 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCCACCAAGATACCCCCATTC 0.348000 5 51 0 0 0.014758 0 0 SIK2 23235 broad.mit.edu 37 11 111487048 111487048 + Missense_Mutation SNP A A C TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr11:111487048A>C ENST00000304987.3 + 2 390 c.217A>C c.(217-219)Atg>Ctg p.M73L NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 73 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 AATAATGAAAATGTTAGACCA 0.373000 11 71 0 0 0.013537 0 0 MAN2A2 4122 broad.mit.edu 37 15 91450665 91450665 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr15:91450665G>A ENST00000360468.3 + 7 1154 c.1136G>A c.(1135-1137)cGc>cAc p.R379H MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R379H NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 379 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCTGGTGGGCGCATCAACTGC 0.567000 4 93 0 0 0.014758 0 0 TMEM120B 144404 broad.mit.edu 37 12 122190038 122190038 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr12:122190038G>A ENST00000449592.2 + 5 471 c.370G>A c.(370-372)Gcc>Acc p.A124T TMEM120B_ENST00000540377.1_5'UTR NM_001080825.2 NP_001074294.2 A0PK00 T120B_HUMAN transmembrane protein 120B 124 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) TGGCAGGTTCGCCTACAAGGA 0.567000 11 96 0 0 0.010729 0 0 HRNR 388697 broad.mit.edu 37 1 152193268 152193268 + Silent SNP C C T rs150466362 TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr1:152193268C>T ENST00000368801.2 - 3 912 c.837G>A c.(835-837)tcG>tcA p.S279S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 279 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTGGAAGACGAACCTGAGC 0.577000 37 560 0 0 0.006999 0 0 MOCS2 4338 broad.mit.edu 37 5 52402983 52402983 + Missense_Mutation SNP A A G TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr5:52402983A>G ENST00000361377.4 - 3 250 c.209T>C c.(208-210)cTc>cCc p.L70P MOCS2_ENST00000510818.2_Missense_Mutation_p.L70P|MOCS2_ENST00000508922.1_Missense_Mutation_p.L70P|MOCS2_ENST00000450852.3_Missense_Mutation_p.L70P|MOCS2_ENST00000584946.1_Missense_Mutation_p.L70P|MOCS2_ENST00000396954.3_Missense_Mutation_p.S8P|MOCS2_ENST00000582677.1_Missense_Mutation_p.L70P O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 70 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) AAGCACGAGGAGCTGATCTCC 0.408000 8 75 0 0 0.003080 0 0 MAP10 54627 broad.mit.edu 37 1 232941483 232941483 + Silent SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr1:232941483C>T ENST00000418460.1 + 1 841 c.714C>T c.(712-714)ctC>ctT p.L238L NM_019090.2 NP_061963.2 microtubule-associated protein 10 AGTCCTGCCTCTTCCGCCTGC 0.721000 5 32 0 0 0.001984 0 0 COL4A6 1288 broad.mit.edu 37 X 107402954 107402954 + Missense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chrX:107402954C>T ENST00000394872.2 - 44 4784 c.4553G>A c.(4552-4554)cGc>cAc p.R1518H COL4A6_ENST00000545689.1_Missense_Mutation_p.R1493H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1460H|COL4A6_ENST00000418180.1_Missense_Mutation_p.R52H|COL4A6_ENST00000372216.4_Missense_Mutation_p.R1518H|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1517H Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1518 Collagen IV NC1. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GGTGCTGAAGCGGGGCAGACA 0.562000 Alport syndrome with Diffuse Leiomyomatosis 37 108 0 0 0.006230 0 0 TFPI 7035 broad.mit.edu 37 2 188332562 188332562 + Silent SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr2:188332562G>A ENST00000233156.3 - 7 1020 c.726C>T c.(724-726)tgC>tgT p.C242C AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.C242C|AC007319.1_ENST00000453517.1_RNA NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 242 BPTI/Kunitz inhibitor 3. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) TAAATGGGCGGCATTTCCCAA 0.418000 4 99 0 0 0.009096 0 0 XRN2 22803 broad.mit.edu 37 20 21336757 21336757 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr20:21336757G>A ENST00000377191.3 + 22 2155 c.2060G>A c.(2059-2061)gGg>gAg p.G687E XRN2_ENST00000430571.2_Missense_Mutation_p.G611E|XRN2_ENST00000539513.1_Missense_Mutation_p.G633E NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 687 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 TTATTTGTGGGGAAACATCAC 0.383000 16 128 0 0 0.007413 0 0 CLEC4M 10332 broad.mit.edu 37 19 7833752 7833752 + Missense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr19:7833752C>T ENST00000327325.5 + 7 1196 c.1078C>T c.(1078-1080)Ccc>Tcc p.P360S CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 360 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CAGTGGAGAACCCAACAATAG 0.512000 23 186 0 0 0.006320 0 0 CCDC88A 55704 broad.mit.edu 37 2 55544946 55544946 + Missense_Mutation SNP G G T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr2:55544946G>T ENST00000436346.1 - 20 4197 c.3356C>A c.(3355-3357)aCc>aAc p.T1119N CCDC88A_ENST00000336838.6_Missense_Mutation_p.T1118N|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T1118N|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T1119N|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1119 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 CATGAGTGAGGTACTTTGGGA 0.333000 13 87 0.000219431 0.000343776 0.020292 1 0 MUC2 4583 broad.mit.edu 37 11 1075719 1075719 + Missense_Mutation SNP G G A TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr11:1075719G>A ENST00000441003.2 + 2 172 c.145G>A c.(145-147)Gac>Aac p.D49N MUC2_ENST00000359061.5_Missense_Mutation_p.D49N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 49 VWFD 1. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAAGACCTTCGACGGGGACGT 0.622000 7 38 0 0 0.003080 0 0 ARID1A 8289 broad.mit.edu 37 1 27059237 27059237 + Frame_Shift_Del DEL A A - TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr1:27059237delA ENST00000324856.7 + 4 2245 c.1874delA c.(1873-1875)cafs p.Q625fs ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q242fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q625fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 625 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AAGGGAGGGCAAGAAGATATG 0.488 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 19 90 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589217 67589222 + In_Frame_Del DEL TTGAAT TTGAAT - TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr5:67589217_67589222delTTGAAT ENST00000521381.1 + 10 1821_1826 c.1205_1210delTTGAAT c.(1204-1212)gta>g p.VEL402del PIK3R1_ENST00000396611.1_In_Frame_Del_p.VEL402del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.VEL402del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.VEL39del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.VEL132del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.VEL102del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.VEL402del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 402 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AGTTCTGTGGTTGAATTAATAAACCA 0.335 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 24 43 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr6:114292110_114292112delCTG ENST00000398283.2 - 1 247_249 c.243_245delCAG c.(241-246)agg>ag p.SR81del HDAC2_ENST00000519065.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.S81R(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GCTCCTCCTCctgctgctgctgc 0.685 3 4 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6775132 6775133 + RNA INS - - T rs72390141 TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr7:6775132_6775133insT ENST00000486256.1 + 0 833 NR_002217.1 GGTCATGTAAGTTTTTTTTTTT 0.401 2 4 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28797435 28797435 + RNA DEL C C - rs77019154 TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr21:28797435delC ENST00000420186.2 - 0 202 ttccttccttcctttcttcct 0.393 2 4 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25855682 25855683 + RNA INS - - GTGT rs72063487 by1000genomes TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28e93aff-9ec4-4fcf-a469-74d8b6190991 57a1f9a5-e7cd-478d-b678-8e1992d9b223 g.chr22:25855682_25855683insGTGT ENST00000354451.2 + 0 366 CCTGGCAGCTGgtgtgtgtgtg 0.530 3 3 --- --- --- ---