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 TMPRSS2 0 broad.mit.edu 37 21 42839793 42839793 + Silent SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr21:42839793C>T ENST00000398585.3 - 13 1506 c.1446G>A c.(1444-1446)ctG>ctA p.L482L TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 445 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TCGAAGTGACCAGAGGCCCTC 0.532000 T """ERG, ETV1, ETV4, ETV5""" prostate 8 78 0 0 0.000157383 0 0 FRG1B 0 broad.mit.edu 37 20 29628246 29628246 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr20:29628246C>A ENST00000278882.3 + 6 628 c.248C>A c.(247-249)gCc>gAc p.A83D FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCTTTGTTGGCCTCAAATAGC 0.353000 6 99 5.18039e-06 0.000103942 0.000157383 1 0 RNF113B 140432 broad.mit.edu 37 13 98829414 98829414 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr13:98829414C>A ENST00000267291.6 - 1 105 c.77G>T c.(76-78)gGa>gTa p.G26V FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 26 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CCCTTTCCGTCCAGGCTTTTT 0.647000 5 49 3.59834e-05 0.000678232 3.59834e-05 1 0 CHD1L 9557 broad.mit.edu 37 1 146765330 146765330 + Silent SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:146765330T>C ENST00000369258.4 + 21 2450 c.2430T>C c.(2428-2430)aaT>aaC p.N810N CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 810 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) ATCGTTCCAATGTCCTGTCTG 0.463000 26 151 0 0 0.000339439 0 0 CXCL9 4283 broad.mit.edu 37 4 76924788 76924788 + Missense_Mutation SNP C C T rs139830877 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:76924788C>T ENST00000264888.5 - 4 379 c.341G>A c.(340-342)cGa>cAa p.R114Q RP11-630D6.5_ENST00000501239.2_RNA NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 114 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity p.R114Q(1) large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTGAGATTTTCGAACTTTCAG 0.338000 7 88 0 0 0.000442599 0 0 CDH6 1004 broad.mit.edu 37 5 31323130 31323130 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:31323130C>A ENST00000265071.2 + 12 2353 c.2088C>A c.(2086-2088)gcC>gcA p.A696A NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 696 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGCCCGAAGCCCTTTTCCTAC 0.522000 9 60 3.07112e-06 6.36745e-05 0.000978159 1 0 UTP14C 9724 broad.mit.edu 37 13 52603217 52603217 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr13:52603217G>A ENST00000521776.2 + 2 1010 c.277G>A c.(277-279)Gtt>Att p.V93I ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 93 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GCTTGAGCCCGTTAAAACTTC 0.423000 21 117 0 0 0.000175454 0 0 FLG2 388698 broad.mit.edu 37 1 152329418 152329418 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:152329418A>T ENST00000388718.5 - 3 916 c.844T>A c.(844-846)Tat>Aat p.Y282N FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 282 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATTGCTATAACCACATGCA 0.428000 33 157 0 0 0.000814825 0 0 RGAG4 340526 broad.mit.edu 37 X 71349790 71349790 + Missense_Mutation SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:71349790C>T ENST00000545866.1 - 1 1968 c.1601G>A c.(1600-1602)cGc>cAc p.R534H NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R534H Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 534 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) ACGACCTGTGCGGCGAATCAG 0.587000 5 16 0 0 3.59834e-05 0 0 BRS3 680 broad.mit.edu 37 X 135572582 135572582 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:135572582G>A ENST00000370648.3 + 2 953 c.725G>A c.(724-726)aGg>aAg p.R242K NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 242 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) TTGATTGCTAGGACCCTTTAC 0.388000 13 20 0 0 0.000219431 0 0 DHX33 56919 broad.mit.edu 37 17 5366889 5366889 + Missense_Mutation SNP G G C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:5366889G>C ENST00000225296.3 - 2 610 c.410C>G c.(409-411)aCt>aGt p.T137S DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 137 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGAGACTCTAGTAGCAAGAGA 0.512000 3 157 0 0 0.00024832 0 0 PCDHB10 0 broad.mit.edu 37 5 140572969 140572969 + Missense_Mutation SNP T T G rs143726447 byFrequency TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:140572969T>G ENST00000239446.4 + 1 1028 c.844T>G c.(844-846)Ttt>Gtt p.F282V NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 282 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATTCATTTTTTGATGCCTC 0.393000 12 58 0 0 0.000151284 0 0 SHOX 6473 broad.mit.edu 37 X 591826 591826 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:591826A>T ENST00000381578.1 + 2 885 c.194A>T c.(193-195)cAc>cTc p.H65L SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 65 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCGGCGGCCACTGCCCGGTG 0.587000 22 141 0 0 0.000295444 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 4 48 0 0 0.000157383 0 0 HEPHL1 341208 broad.mit.edu 37 11 93796817 93796817 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:93796817C>A ENST00000315765.9 + 3 567 c.559C>A c.(559-561)Cat>Aat p.H187N NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 187 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CTGGGTGTACCATTCGCACAT 0.542000 21 112 8.34094e-07 1.78899e-05 0.000132079 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 36 0 0 0.00024832 0 0 GRIN2A 0 broad.mit.edu 37 16 10032075 10032075 + Missense_Mutation SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:10032075C>T ENST00000396573.2 - 4 1057 c.748G>A c.(748-750)Ggg>Agg p.G250R GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000566670.1_5'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 250 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) AAATCATACCCGGTGAGGCCA 0.512000 9 71 0 0 0.000673444 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 62 0 0 0.00024832 0 0 PCDHA1 0 broad.mit.edu 37 5 140166008 140166008 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:140166008G>A ENST00000504120.2 + 1 133 c.133G>A c.(133-135)Gtt>Att p.V45I PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCACCTTCGTTGGCCGCGT 0.637000 20 64 0 0 0.000295444 0 0 FOXA1 3169 broad.mit.edu 37 14 38061705 38061705 + Missense_Mutation SNP C C G TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr14:38061705C>G ENST00000250448.2 - 2 345 c.284G>C c.(283-285)aGc>aCc p.S95T FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 95 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CGCAGTCATGCTGTTCATGGC 0.721000 12 35 0 0 0.00010058 0 0 FRRS1L 23732 broad.mit.edu 37 9 111909389 111909389 + Missense_Mutation SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:111909389T>C ENST00000374581.3 - 3 556 c.557A>G c.(556-558)gAg>gGg p.E186G NM_014334.2 NP_055149.2 Q9P0K9 CI004_HUMAN ferric-chelate reductase 1-like 186 DOMON. integral to membrane TGCACTCAGCTCAAATTCTAC 0.418000 3 112 0 0 6.4e-05 0 0 ZNF287 57336 broad.mit.edu 37 17 16467045 16467045 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:16467045G>A ENST00000395824.1 - 4 1213 c.596C>T c.(595-597)aCg>aTg p.T199M ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M Q9HBT7 ZN287_HUMAN zinc finger protein 287 192 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) GTTCTGTAACGTCACAGTCTT 0.458000 23 58 0 0 0.000229342 0 0 BAI3 577 broad.mit.edu 37 6 70071267 70071267 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:70071267G>A ENST00000370598.1 + 29 4923 c.4102G>A c.(4102-4104)Gca>Aca p.A1368T BAI3_ENST00000546190.1_Missense_Mutation_p.A332T|BAI3_ENST00000238918.8_Missense_Mutation_p.A574T NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1368 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCAACATCTCGCACCCCAGGA 0.438000 29 155 0 0 0.000409698 0 0 FBXL17 64839 broad.mit.edu 37 5 107216868 107216868 + Missense_Mutation SNP A A G TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:107216868A>G ENST00000542267.1 - 8 2241 c.1835T>C c.(1834-1836)aTt>aCt p.I612T FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 612 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) GTATCGCCCAATGGCTATCAG 0.453000 24 103 0 0 0.000878237 0 0 PRC1 9055 broad.mit.edu 37 15 91524744 91524744 + Silent SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:91524744T>C ENST00000361188.5 - 5 1868 c.657A>G c.(655-657)caA>caG p.Q219Q PRC1_ENST00000361919.3_Silent_p.Q219Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q O43663 PRC1_HUMAN protein regulator of cytokinesis 1 219 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) GTAGCAACTTTTGTAGTGTTG 0.408000 4 57 0 0 3.59834e-05 0 0 SMCR7L 0 broad.mit.edu 37 22 39910032 39910032 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr22:39910032A>T ENST00000325301.2 + 6 1520 c.1096A>T c.(1096-1098)Atc>Ttc p.I366F SMCR7L_ENST00000404569.1_Missense_Mutation_p.I366F|SMCR7L_ENST00000402881.1_Missense_Mutation_p.I366F NM_019008.4 NP_061881.2 Q9NQG6 SMC7L_HUMAN 366 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) GTGCCTCAAGATCCTCAAGGC 0.642000 OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 74 0 0 0.000566183 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698033 111698033 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:111698033G>A ENST00000340433.2 + 1 307 c.77G>A c.(76-78)cGg>cAg p.R26Q NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 26 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTGATTCTGCGGCTTCAAATG 0.507000 14 44 0 0 0.000219431 0 0 SPRR2G 0 broad.mit.edu 37 1 153122527 153122527 + Silent SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:153122527C>T ENST00000368748.4 - 2 98 c.60G>A c.(58-60)acG>acA p.T20T NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 20 keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGCACTTTGGCGTGGGGCACA 0.577000 13 122 0 0 0.000151284 0 0 CYP4F11 57834 broad.mit.edu 37 19 16040400 16040400 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:16040400C>A ENST00000326742.7 - 2 211 c.210G>T c.(208-210)acG>acT p.T70T CYP4F11_ENST00000248041.7_Silent_p.T70T|CYP4F11_ENST00000402119.3_Silent_p.T70T Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 70 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGCCCTCTTCCGTGGGAGTGA 0.517000 8 128 0.000157383 0.00287919 0.000157383 1 0 REG3G 130120 broad.mit.edu 37 2 79253898 79253898 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:79253898G>T ENST00000272324.5 + 3 320 c.136G>T c.(136-138)Gcc>Tcc p.A46S REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 46 acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGCTCCAAGGCCTATGGCTC 0.512000 12 58 1.49906e-05 0.00029138 0.000219431 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 48 0 0 0.000602214 0 0 SVEP1 79987 broad.mit.edu 37 9 113166722 113166722 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:113166722G>A ENST00000401783.2 - 39 9887 c.9551C>T c.(9550-9552)cCg>cTg p.P3184L SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3184 Sushi 30. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.P3187Q(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TATGTTTTCCGGGAGAGGACA 0.433000 57 314 0 0 0.000781405 0 0 FRG1B 0 broad.mit.edu 37 20 29628246 29628246 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr20:29628246C>A ENST00000278882.3 + 6 628 c.248C>A c.(247-249)gCc>gAc p.A83D FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCTTTGTTGGCCTCAAATAGC 0.353000 6 99 5.18039e-06 9.12119e-05 0.000157383 1 0 RNF113B 140432 broad.mit.edu 37 13 98829414 98829414 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr13:98829414C>A ENST00000267291.6 - 1 105 c.77G>T c.(76-78)gGa>gTa p.G26V FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 26 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CCCTTTCCGTCCAGGCTTTTT 0.647000 5 49 3.59834e-05 0.000591327 3.59834e-05 1 0 CHD1L 9557 broad.mit.edu 37 1 146765330 146765330 + Silent SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr1:146765330T>C ENST00000369258.4 + 21 2450 c.2430T>C c.(2428-2430)aaT>aaC p.N810N CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.N529N NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 810 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) ATCGTTCCAATGTCCTGTCTG 0.463000 26 151 0 0 0.000339439 0 0 CXCL9 4283 broad.mit.edu 37 4 76924788 76924788 + Missense_Mutation SNP C C T rs139830877 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr4:76924788C>T ENST00000264888.5 - 4 379 c.341G>A c.(340-342)cGa>cAa p.R114Q RP11-630D6.5_ENST00000501239.2_RNA NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 114 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity p.R114Q(1) large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTGAGATTTTCGAACTTTCAG 0.338000 7 88 0 0 0.000442599 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698033 111698033 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chrX:111698033G>A ENST00000340433.2 + 1 307 c.77G>A c.(76-78)cGg>cAg p.R26Q NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 26 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTGATTCTGCGGCTTCAAATG 0.507000 14 44 0 0 0.000219431 0 0 CDH6 1004 broad.mit.edu 37 5 31323130 31323130 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr5:31323130C>A ENST00000265071.2 + 12 2353 c.2088C>A c.(2086-2088)gcC>gcA p.A696A NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 696 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGCCCGAAGCCCTTTTCCTAC 0.522000 9 60 3.07112e-06 5.60763e-05 0.000978159 1 0 ZNF287 57336 broad.mit.edu 37 17 16467045 16467045 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr17:16467045G>A ENST00000395824.1 - 4 1213 c.596C>T c.(595-597)aCg>aTg p.T199M ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M Q9HBT7 ZN287_HUMAN zinc finger protein 287 192 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) GTTCTGTAACGTCACAGTCTT 0.458000 23 58 0 0 0.000229342 0 0 FLG2 388698 broad.mit.edu 37 1 152329418 152329418 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr1:152329418A>T ENST00000388718.5 - 3 916 c.844T>A c.(844-846)Tat>Aat p.Y282N FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 282 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATTGCTATAACCACATGCA 0.428000 33 157 0 0 0.000814825 0 0 RGAG4 340526 broad.mit.edu 37 X 71349790 71349790 + Missense_Mutation SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chrX:71349790C>T ENST00000545866.1 - 1 1968 c.1601G>A c.(1600-1602)cGc>cAc p.R534H RGAG4_ENST00000479991.1_Missense_Mutation_p.R534H|NHSL2_ENST00000540800.1_Intron Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 534 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) ACGACCTGTGCGGCGAATCAG 0.587000 5 16 0 0 3.59834e-05 0 0 BRS3 680 broad.mit.edu 37 X 135572582 135572582 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chrX:135572582G>A ENST00000370648.3 + 2 953 c.725G>A c.(724-726)aGg>aAg p.R242K NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 242 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) TTGATTGCTAGGACCCTTTAC 0.388000 13 20 0 0 0.000219431 0 0 DHX33 56919 broad.mit.edu 37 17 5366889 5366889 + Missense_Mutation SNP G G C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr17:5366889G>C ENST00000225296.3 - 2 610 c.410C>G c.(409-411)aCt>aGt p.T137S DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 137 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGAGACTCTAGTAGCAAGAGA 0.512000 3 157 0 0 0.00024832 0 0 PCDHB10 0 broad.mit.edu 37 5 140572969 140572969 + Missense_Mutation SNP T T G rs143726447 byFrequency TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr5:140572969T>G ENST00000239446.4 + 1 1028 c.844T>G c.(844-846)Ttt>Gtt p.F282V NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 282 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATTCATTTTTTGATGCCTC 0.393000 12 58 0 0 0.000151284 0 0 UTP14C 9724 broad.mit.edu 37 13 52603217 52603217 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr13:52603217G>A ENST00000521776.2 + 2 1010 c.277G>A c.(277-279)Gtt>Att p.V93I ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 93 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GCTTGAGCCCGTTAAAACTTC 0.423000 21 117 0 0 0.000175454 0 0 SHOX 6473 broad.mit.edu 37 X 591826 591826 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chrX:591826A>T ENST00000381578.1 + 2 885 c.194A>T c.(193-195)cAc>cTc p.H65L SHOX_ENST00000554971.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381575.1_Missense_Mutation_p.H65L NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 65 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCGGCGGCCACTGCCCGGTG 0.587000 22 141 0 0 0.000295444 0 0 GRIN2A 0 broad.mit.edu 37 16 10032075 10032075 + Missense_Mutation SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr16:10032075C>T ENST00000396573.2 - 4 1057 c.748G>A c.(748-750)Ggg>Agg p.G250R GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 250 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) AAATCATACCCGGTGAGGCCA 0.512000 9 71 0 0 0.000673444 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 45 0 0 0.000602214 0 0 PCDHA1 0 broad.mit.edu 37 5 140166008 140166008 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr5:140166008G>A ENST00000504120.2 + 1 133 c.133G>A c.(133-135)Gtt>Att p.V45I PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCACCTTCGTTGGCCGCGT 0.637000 20 64 0 0 0.000295444 0 0 FOXA1 3169 broad.mit.edu 37 14 38061705 38061705 + Missense_Mutation SNP C C G TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr14:38061705C>G ENST00000250448.2 - 2 345 c.284G>C c.(283-285)aGc>aCc p.S95T FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 95 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CGCAGTCATGCTGTTCATGGC 0.721000 12 35 0 0 0.00010058 0 0 FRRS1L 23732 broad.mit.edu 37 9 111909389 111909389 + Missense_Mutation SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr9:111909389T>C ENST00000374581.3 - 3 556 c.557A>G c.(556-558)gAg>gGg p.E186G NM_014334.2 NP_055149.2 Q9P0K9 CI004_HUMAN ferric-chelate reductase 1-like 186 DOMON. integral to membrane TGCACTCAGCTCAAATTCTAC 0.418000 3 112 0 0 6.4e-05 0 0 BAI3 577 broad.mit.edu 37 6 70071267 70071267 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr6:70071267G>A ENST00000370598.1 + 29 4923 c.4102G>A c.(4102-4104)Gca>Aca p.A1368T BAI3_ENST00000238918.8_Missense_Mutation_p.A574T|BAI3_ENST00000546190.1_Missense_Mutation_p.A332T NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1368 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCAACATCTCGCACCCCAGGA 0.438000 29 155 0 0 0.000409698 0 0 FBXL17 64839 broad.mit.edu 37 5 107216868 107216868 + Missense_Mutation SNP A A G TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr5:107216868A>G ENST00000542267.1 - 8 2241 c.1835T>C c.(1834-1836)aTt>aCt p.I612T FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 612 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) GTATCGCCCAATGGCTATCAG 0.453000 24 103 0 0 0.000878237 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 101 0 0 3.59834e-05 0 0 PRC1 9055 broad.mit.edu 37 15 91524744 91524744 + Silent SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr15:91524744T>C ENST00000361188.5 - 5 1868 c.657A>G c.(655-657)caA>caG p.Q219Q PRC1_ENST00000361919.3_Silent_p.Q219Q|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Silent_p.Q178Q O43663 PRC1_HUMAN protein regulator of cytokinesis 1 219 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) GTAGCAACTTTTGTAGTGTTG 0.408000 4 57 0 0 3.59834e-05 0 0 TMPRSS2 0 broad.mit.edu 37 21 42839793 42839793 + Silent SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr21:42839793C>T ENST00000398585.3 - 13 1506 c.1446G>A c.(1444-1446)ctG>ctA p.L482L TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 445 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TCGAAGTGACCAGAGGCCCTC 0.532000 T """ERG, ETV1, ETV4, ETV5""" prostate 8 78 0 0 0.000157383 0 0 SMCR7L 0 broad.mit.edu 37 22 39910032 39910032 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr22:39910032A>T ENST00000325301.2 + 6 1520 c.1096A>T c.(1096-1098)Atc>Ttc p.I366F SMCR7L_ENST00000402881.1_Missense_Mutation_p.I366F|SMCR7L_ENST00000404569.1_Missense_Mutation_p.I366F NM_019008.4 NP_061881.2 Q9NQG6 SMC7L_HUMAN 366 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) GTGCCTCAAGATCCTCAAGGC 0.642000 OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 74 0 0 0.000566183 0 0 SPRR2G 0 broad.mit.edu 37 1 153122527 153122527 + Silent SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr1:153122527C>T ENST00000368748.4 - 2 98 c.60G>A c.(58-60)acG>acA p.T20T NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 20 keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGCACTTTGGCGTGGGGCACA 0.577000 13 122 0 0 0.000151284 0 0 REG3G 130120 broad.mit.edu 37 2 79253898 79253898 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr2:79253898G>T ENST00000272324.5 + 3 320 c.136G>T c.(136-138)Gcc>Tcc p.A46S REG3G_ENST00000393897.2_Missense_Mutation_p.A46S|REG3G_ENST00000409471.1_Missense_Mutation_p.A46S NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 46 acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGCTCCAAGGCCTATGGCTC 0.512000 12 58 1.49906e-05 0.00025484 0.000219431 1 0 SVEP1 79987 broad.mit.edu 37 9 113166722 113166722 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr9:113166722G>A ENST00000401783.2 - 39 9887 c.9551C>T c.(9550-9552)cCg>cTg p.P3184L SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3184 Sushi 30. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.P3187Q(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TATGTTTTCCGGGAGAGGACA 0.433000 57 314 0 0 0.000781405 0 0 OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 8 124 --- --- --- --- RP11-458D21.1 0 broad.mit.edu 37 1 145376652 145376653 + RNA INS - - C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr1:145376652_145376653insC ENST00000419817.1 - 0 641_642 gtgtagtcatacagtgggatca 0.342 2 4 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 be1a847c-f61a-48c1-b780-7af2c88f53be g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 2 4 --- --- --- ---