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 XRCC5 7520 broad.mit.edu 37 2 217012886 217012886 + Silent SNP C C G rs141533226 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:217012886C>G ENST00000392133.3 + 16 2018 c.1557C>G c.(1555-1557)ccC>ccG p.P519P XRCC5_ENST00000392132.2_Silent_p.P519P P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 519 Pro-rich. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding p.P519P(1) endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) TGAATCCTCCCGCTGAGGTGA 0.443000 Non-homologous end-joining 4 135 0 0 0.00024832 0 0 SP8 221833 broad.mit.edu 37 7 20824767 20824767 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:20824767G>A ENST00000361443.4 - 3 852 c.615C>T c.(613-615)gcC>gcT p.A205A SP8_ENST00000418710.2_Silent_p.A223A NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A223A(1)|p.A205A(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 TGGAGGCGCCGGCCGAGCCCA 0.746000 9 3 0 0 3.86212e-05 0 0 ITGA6 3655 broad.mit.edu 37 2 173337571 173337571 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:173337571G>C ENST00000375221.2 + 6 1048 c.845G>C c.(844-846)cGg>cCg p.R282P ITGA6_ENST00000264106.6_Missense_Mutation_p.R282P|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000343713.4_Missense_Mutation_p.R238P|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000409532.1_Missense_Mutation_p.R124P P23229 ITA6_HUMAN integrin, alpha 6 282 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CGGCCTCCCCGGGAGCAGCCT 0.458000 5 143 0 0 8.12818e-05 0 0 WDR35 57539 broad.mit.edu 37 2 20145669 20145669 + Nonsense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:20145669C>A ENST00000345530.3 - 17 1871 c.1756G>T c.(1756-1758)Gga>Tga p.G586* WDR35_ENST00000416055.2_Nonsense_Mutation_p.G151*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.G575* NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 586 p.G586*(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACAACTCTCCAACTACTTGC 0.413000 9 185 0.000274275 0.0062264 0.000274275 1 0 CIITA 4261 broad.mit.edu 37 16 11002979 11002979 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:11002979C>T ENST00000324288.8 + 12 2884 c.2751C>T c.(2749-2751)atC>atT p.I917I CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Silent_p.I333I NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 917 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding p.I917I(1) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 AGTTCACCATCGAGCCTTTCA 0.592000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 20 13 0 0 0.000175454 0 0 NINL 22981 broad.mit.edu 37 20 25456719 25456719 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:25456719G>C ENST00000278886.6 - 17 3281 c.3208C>G c.(3208-3210)Cgg>Ggg p.R1070G NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1070 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding p.R1070G(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TCCAGAGCCCGGACGACGTCT 0.463000 4 122 0 0 3.59834e-05 0 0 OR2L3 391192 broad.mit.edu 37 1 248224550 248224550 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:248224550G>T ENST00000359959.3 + 1 567 c.567G>T c.(565-567)atG>atT p.M189I OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M189N(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGGCCTGCATGGACACCTGGG 0.478000 79 70 9.90312e-32 2.91548e-30 0.000147903 1 0 COL6A5 256076 broad.mit.edu 37 3 130095223 130095223 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:130095223C>G ENST00000265379.6 + 3 705 c.211C>G c.(211-213)Ctg>Gtg p.L71V COL6A5_ENST00000432398.2_Missense_Mutation_p.L71V A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 71 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen p.L71V(1) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CCGTGTAGCCCTGGCCCAGTA 0.483000 3 33 0 0 0.00024832 0 0 KCNK16 83795 broad.mit.edu 37 6 39285675 39285675 + Missense_Mutation SNP A A G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:39285675A>G ENST00000425054.2 - 3 381 c.382T>C c.(382-384)Tat>Cat p.Y128H KCNK16_ENST00000437525.2_Missense_Mutation_p.Y128H|KCNK16_ENST00000507712.1_Missense_Mutation_p.Y63H|KCNK16_ENST00000373227.4_Missense_Mutation_p.Y128H|KCNK16_ENST00000373229.5_Missense_Mutation_p.Y128H NM_001135105.1 NP_001128577.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 128 integral to membrane potassium channel activity|voltage-gated ion channel activity p.Y128H(2) large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 AACAGGGCATAGAAGACACAG 0.587000 15 25 0 0 0.000422831 0 0 LAMA3 3909 broad.mit.edu 37 18 21453131 21453131 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:21453131C>G ENST00000269217.6 + 1 328 c.123C>G c.(121-123)ccC>ccG p.P41P LAMA3_ENST00000587184.1_Silent_p.P41P|LAMA3_ENST00000313654.9_Intron|LAMA3_ENST00000399516.3_Intron NM_000227.3 NP_000218.2 Q16787 LAMA3_HUMAN laminin, alpha 3 0 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCAGCCTCCCGGTCAAAGTC 0.522000 7 314 0 0 0.000442599 0 0 RDH14 57665 broad.mit.edu 37 2 18736716 18736716 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:18736716C>G ENST00000381249.3 - 2 859 c.752G>C c.(751-753)cGg>cCg p.R251P RDH14_ENST00000468071.1_5'UTR NM_020905.3 NP_065956.1 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) CAGATTTGTCCGTACAATACC 0.478000 5 214 0 0 3.59834e-05 0 0 FBXO4 26272 broad.mit.edu 37 5 41939605 41939605 + Missense_Mutation SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:41939605T>C ENST00000281623.3 + 6 1017 c.961T>C c.(961-963)Tcg>Ccg p.S321P FBXO4_ENST00000509134.1_Intron NM_012176.2 NP_036308.1 Q9UKT5 FBX4_HUMAN F-box protein 4 321 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity p.S321P(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) CTTTGGGTCTTCGGGAAGACC 0.373000 251 127 0 0 0.000147903 0 0 LIG1 3978 broad.mit.edu 37 19 48631178 48631178 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:48631178G>C ENST00000263274.7 - 20 2340 c.1921C>G c.(1921-1923)Cgc>Ggc p.R641G LIG1_ENST00000536218.1_Missense_Mutation_p.R573G|LIG1_ENST00000427526.2_Missense_Mutation_p.R610G NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 641 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding p.R641G(1) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TTGCGTTTGCGGGTGGTGAGC 0.592000 Nucleotide excision repair (NER) 5 147 0 0 3.59834e-05 0 0 C1orf192 257177 broad.mit.edu 37 1 161335431 161335431 + Missense_Mutation SNP C C G rs149688361 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:161335431C>G ENST00000367974.1 - 4 238 c.233G>C c.(232-234)cGg>cCg p.R78P NM_001013625.2 NP_001013647.2 Q5VTH2 CA192_HUMAN chromosome 1 open reading frame 192 78 p.R78L(1) endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CAGGGTCACCCGAGCAGGGGG 0.517000 6 242 0 0 8.12818e-05 0 0 F11 2160 broad.mit.edu 37 4 187209638 187209638 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:187209638A>T ENST00000264692.4 + 15 1925 c.1592A>T c.(1591-1593)cAc>cTc p.H531L RP11-215A19.1_ENST00000505103.1_RNA|F11_ENST00000403665.2_Missense_Mutation_p.H583L P03951 FA11_HUMAN coagulation factor XI 583 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity p.H583L(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TCCTGCAAACACAATGAGGTC 0.557000 70 115 0 0 0.000147903 0 0 VANGL1 81839 broad.mit.edu 37 1 116202292 116202292 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:116202292C>G ENST00000355485.2 + 3 373 c.102C>G c.(100-102)ccC>ccG p.P34P VANGL1_ENST00000369509.1_Silent_p.P34P|VANGL1_ENST00000310260.3_Silent_p.P34P|VANGL1_ENST00000369510.3_Silent_p.P34P NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 34 multicellular organismal development integral to membrane protein binding p.(=)(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) ACAAGTCACCCCGGAATAAAG 0.443000 6 344 0 0 3.59834e-05 0 0 DNAJC2 27000 broad.mit.edu 37 7 102963026 102963026 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:102963026C>T ENST00000379263.3 - 9 1115 c.865G>A c.(865-867)Gcc>Acc p.A289T PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A289T NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 289 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding p.A289T(1) endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 tctttcttggctttttcttct 0.333000 13 18 0 0 0.00010058 0 0 ASXL1 171023 broad.mit.edu 37 20 31021635 31021635 + Missense_Mutation SNP G G C rs149449801 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:31021635G>C ENST00000375687.4 + 12 2058 c.1634G>C c.(1633-1635)cGt>cCt p.R545P ASXL1_ENST00000306058.5_Missense_Mutation_p.R540P NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 545 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.R545P(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTTGAAGATCGTCAGTCCTTT 0.522000 """F, N, Mis""" """MDS, CMML""" 45 68 0 0 0.000147903 0 0 ANKRD42 338699 broad.mit.edu 37 11 82922342 82922342 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:82922342C>G ENST00000393389.3 + 5 1388 c.456C>G c.(454-456)ccC>ccG p.P152P ANKRD42_ENST00000533342.1_Silent_p.P152P|ANKRD42_ENST00000260047.6_Silent_p.P151P|ANKRD42_ENST00000393392.2_Silent_p.P124P|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000526731.1_Silent_p.P152P|ANKRD42_ENST00000528722.1_Silent_p.P39P|ANKRD42_ENST00000531895.1_Silent_p.P152P Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 124 p.P124P(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TCTAGGATCCCAGTGTGACTG 0.433000 6 162 0 0 0.000157383 0 0 PRKDC 5591 broad.mit.edu 37 8 48748977 48748977 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:48748977G>A ENST00000314191.2 - 59 7926 c.7870C>T c.(7870-7872)Ctc>Ttc p.L2624F PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L2624F NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2625 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.L2625F(1)|p.L2624F(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CGAGCTGAGAGGGACCCTTCC 0.592000 Non-homologous end-joining 5 10 0 0 8.12818e-05 0 0 GP5 2814 broad.mit.edu 37 3 194117476 194117476 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:194117476C>G ENST00000401815.1 - 1 1607 c.1536G>C c.(1534-1536)acG>acC p.T512T GP5_ENST00000323007.3_Silent_p.T512T P40197 GPV_HUMAN glycoprotein V (platelet) 512 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane p.T512T(2) breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GACCTTTGCCCGTGGTCACCG 0.567000 4 158 0 0 1.23904e-05 0 0 FMN1 342184 broad.mit.edu 37 15 33191088 33191088 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:33191088C>G ENST00000334528.9 - 11 2991 c.2992G>C c.(2992-2994)Ggg>Cgg p.G998R FMN1_ENST00000561249.1_Missense_Mutation_p.G1123R|FMN1_ENST00000559047.1_Missense_Mutation_p.G1221R NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 1221 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding p.G998R(1)|p.G1221R(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AGATTAATCCCATTATCCTAG 0.358000 5 122 0 0 3.59834e-05 0 0 HJURP 55355 broad.mit.edu 37 2 234750475 234750475 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:234750475C>G ENST00000411486.2 - 8 1016 c.951G>C c.(949-951)caG>caC p.Q317H HJURP_ENST00000441687.1_Missense_Mutation_p.Q232H|HJURP_ENST00000432087.1_Missense_Mutation_p.Q263H NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 317 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding p.Q317H(1) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TGGAGCTCCTCTGAGAACGTC 0.463000 21 19 0 0 0.000175454 0 0 ANKAR 150709 broad.mit.edu 37 2 190606123 190606123 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:190606123C>G ENST00000520309.1 + 20 3844 c.3756C>G c.(3754-3756)acC>acG p.T1252T ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Silent_p.T1252T|ANKAR_ENST00000431575.2_Silent_p.T1181T NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1252 integral to membrane binding p.T1252T(1)|p.T1181T(1) breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AAGCATTTACCACATTAGGAA 0.318000 4 107 0 0 3.59834e-05 0 0 UMPS 7372 broad.mit.edu 37 3 124449388 124449388 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:124449388G>T ENST00000232607.2 + 1 176 c.70G>T c.(70-72)Ggg>Tgg p.G24W UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 24 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity p.G24W(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) TTTCAAGTTTGGGGACTTCGT 0.592000 29 64 2.65835e-16 7.17651e-15 0.000184323 1 0 THRA 7067 broad.mit.edu 37 17 38244622 38244622 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:38244622G>C ENST00000450525.2 + 8 1342 c.851G>C c.(850-852)cGg>cCg p.R284P THRA_ENST00000264637.4_Missense_Mutation_p.R284P|THRA_ENST00000394121.4_Missense_Mutation_p.R284P|THRA_ENST00000584985.1_Missense_Mutation_p.R284P|THRA_ENST00000546243.1_Missense_Mutation_p.R284P NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 284 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.R284P(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GCTGTCAAGCGGGAGCAGCTC 0.607000 4 48 0 0 0.00024832 0 0 COL11A2 1302 broad.mit.edu 37 6 33133723 33133723 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:33133723G>T ENST00000341947.2 - 62 4694 c.4467C>A c.(4465-4467)ggC>ggA p.G1489G COL11A2_ENST00000357486.1_Silent_p.G1468G|COL11A2_ENST00000374712.1_Silent_p.G1408G|COL11A2_ENST00000374714.1_Silent_p.G1463G|COL11A2_ENST00000374713.1_Silent_p.G1442G|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Silent_p.G1403G|COL11A2_ENST00000361917.1_Silent_p.G1382G|COL11A2_ENST00000395197.1_Silent_p.G1429G NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1489 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.G1489G(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GTCCTGGAGGGCCCTGCACAC 0.607000 10 20 7.48243e-07 1.84215e-05 0.000442599 1 0 SH3RF1 57630 broad.mit.edu 37 4 170190190 170190190 + Silent SNP C C G rs141769951 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:170190190C>G ENST00000284637.9 - 2 515 c.174G>C c.(172-174)tcG>tcC p.S58S SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 58 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding p.S58S(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CCTCGACACCCGAGCCAACAA 0.537000 3 50 0 0 6.4e-05 0 0 CDC7 8317 broad.mit.edu 37 1 91967324 91967324 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:91967324C>G ENST00000428239.1 + 2 310 c.51C>G c.(49-51)ccC>ccG p.P17P CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Silent_p.P17P|CDC7_ENST00000430031.2_Silent_p.P17P NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 17 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P17P(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) CTTTTTCTCCCCAGCGTGACC 0.438000 7 486 0 0 0.000442599 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73303311 73303311 + Splice_Site SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:73303311C>A ENST00000258098.6 - 4 1809 c.e4-1 RAB11FIP5_ENST00000493523.2_Splice_Site NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding p.?(1) biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GGGGTGGGGACTGCAAAGACA 0.627000 54 76 1.19403e-26 3.44276e-25 0.000147903 1 0 ESPL1 9700 broad.mit.edu 37 12 53682997 53682997 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:53682997G>C ENST00000257934.4 + 21 4923 c.4832G>C c.(4831-4833)cGg>cCg p.R1611P ESPL1_ENST00000552462.1_Missense_Mutation_p.R1611P NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1611 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding p.R1611P(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CTGGGCCACCGGGATCCTTAT 0.602000 4 164 0 0 0.00024832 0 0 GRM7 2917 broad.mit.edu 37 3 7620936 7620936 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:7620936C>G ENST00000486284.1 + 8 2617 c.2343C>G c.(2341-2343)ccC>ccG p.P781P GRM7_ENST00000402647.2_Silent_p.P781P|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.P781P|GRM7_ENST00000389336.4_Silent_p.P781P|GRM7_ENST00000357716.4_Silent_p.P781P NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 781 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.P781P(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GGGGTGTACCCGAGAATTTTA 0.428000 4 68 0 0 1.23904e-05 0 0 DUOXA2 405753 broad.mit.edu 37 15 45408801 45408801 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:45408801C>A ENST00000323030.5 + 4 713 c.428C>A c.(427-429)gCg>gAg p.A143E NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 143 protein transport endoplasmic reticulum membrane|integral to membrane p.A143E(1) all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GCGGAGTACGCGAACGCACTG 0.607000 15 29 1.49906e-05 0.000359568 0.000219431 1 0 MLLT10 8028 broad.mit.edu 37 10 22021940 22021940 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:22021940G>T ENST00000377072.3 + 19 2727 c.2379G>T c.(2377-2379)caG>caT p.Q793H MLLT10_ENST00000446906.2_Missense_Mutation_p.Q777H|MLLT10_ENST00000377059.3_Missense_Mutation_p.Q777H|MLLT10_ENST00000307729.7_Missense_Mutation_p.Q777H NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 793 Leucine-zipper.|Transactivation domain. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q793H(1)|p.Q777H(1) NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 TGAATGCACAGCTTTCAGTGC 0.363000 T """MLL, PICALM, CDK6""" AL 24 57 1.12875e-08 2.83893e-07 0.000147802 1 0 MUC16 94025 broad.mit.edu 37 19 9065940 9065940 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:9065940G>T ENST00000397910.4 - 3 21709 c.21506C>A c.(21505-21507)aCc>aAc p.T7169N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7171 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T7169N(2)|p.T2802N(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTATTTGTGGTGTCCTTGCC 0.507000 48 29 2.9001e-28 8.41391e-27 0.000147903 1 0 ZNF514 84874 broad.mit.edu 37 2 95815548 95815548 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:95815548C>G ENST00000295208.2 - 5 1144 c.682G>C c.(682-684)Gga>Cga p.G228R ZNF514_ENST00000411425.1_Missense_Mutation_p.G228R NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G228R(1) large_intestine(4)|lung(6)|urinary_tract(1) 11 GGCTTTTCTCCAGTGTGACAT 0.428000 5 223 0 0 3.59834e-05 0 0 LRRN2 10446 broad.mit.edu 37 1 204587055 204587055 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:204587055G>T ENST00000367175.1 - 1 4278 c.2066C>A c.(2065-2067)cCc>cAc p.P689H LRRN2_ENST00000367177.3_Missense_Mutation_p.P689H|LRRN2_ENST00000367176.3_Missense_Mutation_p.P689H O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 689 cell adhesion integral to membrane receptor activity p.P689H(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGGATTCCAGGGCAGGACGAG 0.602000 106 36 1.47424e-42 4.44305e-41 0.000147903 1 0 OXSM 54995 broad.mit.edu 37 3 25833265 25833265 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:25833265C>G ENST00000280701.3 + 2 853 c.754C>G c.(754-756)Cgg>Ggg p.R252G OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Intron NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 252 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity p.R252G(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TTCCAGAGCCCGGGCTCTGAG 0.478000 4 118 0 0 8.12818e-05 0 0 ZNF623 9831 broad.mit.edu 37 8 144733268 144733268 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:144733268G>T ENST00000501748.2 + 1 1315 c.1226G>T c.(1225-1227)gGg>gTg p.G409V ZNF623_ENST00000526926.1_Missense_Mutation_p.G369V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G369V NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G409V(1) endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AAGGAATGTGGGAAAGCGTTT 0.468000 19 49 6.44725e-10 1.63035e-08 0.000295444 1 0 PCYT1A 5130 broad.mit.edu 37 3 195997346 195997346 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:195997346G>C ENST00000292823.2 - 3 229 c.57C>G c.(55-57)ccC>ccG p.P19P PCYT1A_ENST00000431016.1_Silent_p.P19P|PCYT1A_ENST00000419333.1_Silent_p.P19P|PCYT1A_ENST00000491544.1_5'UTR NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 19 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) CGTTGGGTCCGGGCGCCTCTT 0.493000 6 342 0 0 8.12818e-05 0 0 KIAA1755 85449 broad.mit.edu 37 20 36851966 36851966 + Nonsense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:36851966T>A ENST00000279024.4 - 9 2513 c.2242A>T c.(2242-2244)Aag>Tag p.K748* NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 748 p.K748*(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GGGTCGGCCTTCTCGAATTCC 0.607000 11 17 0 0 6.40141e-05 0 0 RPUSD4 84881 broad.mit.edu 37 11 126080928 126080928 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:126080928C>G ENST00000298317.4 - 2 265 c.212G>C c.(211-213)cGg>cCg p.R71P RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.R71P NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 71 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) TTGCACTCTCCGCTGAACAGC 0.572000 6 141 0 0 3.59834e-05 0 0 ZNF548 147694 broad.mit.edu 37 19 57908500 57908500 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:57908500C>G ENST00000366197.5 + 2 350 c.100C>G c.(100-102)Cgt>Ggt p.R34G ZNF548_ENST00000336128.7_Missense_Mutation_p.R46G|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.R46G|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000598895.1_Missense_Mutation_p.R46G NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTGCTGTACCGTGATGTGAT 0.532000 5 238 0 0 0.000157383 0 0 TRANK1 9881 broad.mit.edu 37 3 36873406 36873406 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:36873406C>G ENST00000429976.2 - 21 7783 c.7536G>C c.(7534-7536)tcG>tcC p.S2512S TRANK1_ENST00000301807.6_Silent_p.S1962S|TRANK1_ENST00000428977.2_Silent_p.S1962S O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2512 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CAGCCTCACCCGAGACCACAT 0.527000 5 97 0 0 3.59834e-05 0 0 ROBO2 6092 broad.mit.edu 37 3 77693982 77693982 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:77693982G>C ENST00000461745.1 + 25 4962 c.4062G>C c.(4060-4062)caG>caC p.Q1354H ROBO2_ENST00000487694.3_Missense_Mutation_p.Q1370H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q1415H NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1354 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.Q1354H(1)|p.Q1370H(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAGGCCACCAGCGCAATGCCA 0.493000 50 66 0 0 0.000147903 0 0 FAT1 2195 broad.mit.edu 37 4 187630249 187630249 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:187630249C>T ENST00000441802.2 - 2 942 c.733G>A c.(733-735)Gtg>Atg p.V245M NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 245 Cadherin 2. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.V245M(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCGATGTGCACCGTTAGCTTG 0.512000 HNSCC(5;0.00058) 54 84 0 0 0.000147903 0 0 BOLA1 51027 broad.mit.edu 37 1 149871704 149871704 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:149871704C>G ENST00000369153.2 + 3 756 c.92C>G c.(91-93)cCg>cGg p.P31R BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Missense_Mutation_p.P31R|BOLA1_ENST00000369150.1_Missense_Mutation_p.P31R Q9Y3E2 BOLA1_HUMAN bolA family member 1 31 extracellular region protein binding p.P31R(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCCATCGGTCCGGTGGAGGCC 0.692000 3 38 0 0 0.00024832 0 0 ARHGEF37 389337 broad.mit.edu 37 5 148997825 148997825 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:148997825C>G ENST00000333677.6 + 6 908 c.745C>G c.(745-747)Cgg>Ggg p.R249G NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 249 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.R249G(1) large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 GAAGACCACCCGGCTGAGCCA 0.652000 3 39 0 0 6.4e-05 0 0 STXBP5 134957 broad.mit.edu 37 6 147684611 147684611 + Missense_Mutation SNP C C T rs143796366 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:147684611C>T ENST00000367481.3 + 22 2686 c.2578C>T c.(2578-2580)Cgg>Tgg p.R860W STXBP5_ENST00000367480.3_Missense_Mutation_p.R843W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R896W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R551W NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 896 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding p.R860W(1)|p.R896W(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) ATTGAAAAAACGGCGGCCTGT 0.438000 11 25 0 0 0.00010058 0 0 STT3A 3703 broad.mit.edu 37 11 125488319 125488319 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:125488319G>A ENST00000392708.4 + 16 1985 c.1826G>A c.(1825-1827)gGc>gAc p.G609D STT3A_ENST00000531491.1_Missense_Mutation_p.G517D|STT3A_ENST00000529196.1_Missense_Mutation_p.G609D NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 609 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity p.G609D(1) NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) ACAGATACAGGCAAACATATC 0.443000 26 54 0 0 9.22233e-05 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633596 70633596 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr14:70633596G>T ENST00000381269.2 - 2 2297 c.1544C>A c.(1543-1545)tCc>tAc p.S515Y SLC8A3_ENST00000528359.1_Missense_Mutation_p.S515Y|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S515Y|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S515Y|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S515Y NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 515 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.S515Y(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CACACAAGGGGAGGCTAGGAC 0.498000 21 13 1.96292e-10 4.99082e-09 0.000175454 1 0 GCN1L1 10985 broad.mit.edu 37 12 120578771 120578771 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:120578771G>T ENST00000300648.6 - 45 5898 c.5886C>A c.(5884-5886)ccC>ccA p.P1962P NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1962 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding p.P1962P(1) NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGATGATCTCGGGGAGGATTT 0.527000 6 159 0.000157383 0.00364379 0.000157383 1 0 RAB11FIP2 22841 broad.mit.edu 37 10 119798562 119798562 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:119798562G>C ENST00000355624.3 - 3 1625 c.1186C>G c.(1186-1188)Cgc>Ggc p.R396G RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.R396G NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 396 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity p.R396G(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) TAGTCCTGGCGATTTTCACTA 0.373000 51 88 0 0 0.000147903 0 0 SYT4 6860 broad.mit.edu 37 18 40854018 40854018 + Missense_Mutation SNP A A G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:40854018A>G ENST00000255224.3 - 2 744 c.376T>C c.(376-378)Ttt>Ctt p.F126L SYT4_ENST00000590752.1_Missense_Mutation_p.F108L|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 126 cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.F126L(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 CCTTCTAAAAAGAGCTTCGGG 0.443000 4 80 0 0 1.23904e-05 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463450 130463450 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:130463450C>A ENST00000356763.3 - 2 1170 c.613G>T c.(613-615)Ggt>Tgt p.G205C NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 205 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity p.G205C(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 AACATCCCACCATCAACAAAA 0.423000 20 39 2.54575e-18 6.99406e-17 0.000175454 1 0 GPR162 27239 broad.mit.edu 37 12 6936107 6936107 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:6936107G>C ENST00000311268.3 + 5 2292 c.1505G>C c.(1504-1506)cGg>cCg p.R502P GPR162_ENST00000428545.2_Missense_Mutation_p.R218P|GPR162_ENST00000382315.3_Missense_Mutation_p.R198P NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 502 integral to membrane|plasma membrane G-protein coupled receptor activity p.R502P(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GGCTTCTTCCGGGAGGAGATC 0.657000 4 160 0 0 3.59834e-05 0 0 TENM1 10178 broad.mit.edu 37 X 123838919 123838919 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:123838919G>C ENST00000422452.2 - 5 1022 c.959C>G c.(958-960)gCa>gGa p.A320G TENM1_ENST00000371130.3_Missense_Mutation_p.A320G NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.A322G(1) GGCGCTCAATGCTGTGCACTT 0.483000 99 21 0 0 0.000147903 0 0 OR5D16 390144 broad.mit.edu 37 11 55606864 55606864 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:55606864C>A ENST00000378396.1 + 1 637 c.637C>A c.(637-639)Cta>Ata p.L213I NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L213I(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GATAAGCACACTACTCATCAT 0.458000 42 58 5.2432e-18 1.43205e-16 0.000147903 1 0 OR5I1 10798 broad.mit.edu 37 11 55703186 55703186 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:55703186G>C ENST00000301532.3 - 1 690 c.691C>G c.(691-693)Cgc>Ggc p.R231G NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R231G(1)|p.R231C(1)|p.R231S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CTGAAAGAGCGGATCTTTAAG 0.453000 3 19 0 0 6.4e-05 0 0 IQCA1 79781 broad.mit.edu 37 2 237300647 237300647 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:237300647G>T ENST00000409907.3 - 11 1659 c.1385C>A c.(1384-1386)cCa>cAa p.P462Q IQCA1_ENST00000309507.5_Missense_Mutation_p.P458Q|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Missense_Mutation_p.P421Q Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 462 Lys-rich. ATP binding p.P462Q(1)|p.P469Q(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TGCTTTCACTGGGCGCTCCCT 0.478000 11 266 9.31168e-06 0.000225285 0.000151284 1 0 HRH4 59340 broad.mit.edu 37 18 22048811 22048811 + Nonsense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:22048811G>T ENST00000256906.4 + 2 353 c.253G>T c.(253-255)Gaa>Taa p.E85* HRH4_ENST00000426880.2_Intron NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 85 integral to membrane|plasma membrane histamine receptor activity p.E85*(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TTTTGGAAAGGAAATCTGTGT 0.408000 29 75 1.13719e-10 2.90722e-09 0.000227799 1 0 TRIM36 55521 broad.mit.edu 37 5 114499299 114499299 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:114499299C>G ENST00000513154.1 - 2 504 c.178G>C c.(178-180)Gga>Cga p.G60R TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.G72R Q9NQ86 TRI36_HUMAN tripartite motif containing 36 72 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.G72R(1) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) TTGTCTGATCCCACATCGTTG 0.443000 4 56 0 0 0.00024832 0 0 TAF1L 138474 broad.mit.edu 37 9 32634374 32634374 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:32634374C>T ENST00000242310.4 - 1 1293 c.1204G>A c.(1204-1206)Gag>Aag p.E402K RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 402 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.E402K(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTAAATTCCTCCATCATTCTA 0.438000 87 127 0 0 0.000147903 0 0 EPHB1 2047 broad.mit.edu 37 3 134885789 134885789 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:134885789G>C ENST00000398015.3 + 9 2070 c.1700G>C c.(1699-1701)cGg>cCg p.R567P EPHB1_ENST00000493838.1_Missense_Mutation_p.R128P NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 567 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.R567P(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CACAGGAAACGGGCTTATAGC 0.567000 4 135 0 0 3.59834e-05 0 0 OR7C1 26664 broad.mit.edu 37 19 14910187 14910187 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:14910187C>A ENST00000248073.2 - 1 836 c.762G>T c.(760-762)acG>acT p.T254T OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 254 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity p.T254T(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 CCCCAAAGCCCGTGCCATAGA 0.517000 30 7 8.88839e-20 2.46618e-18 0.000339439 1 0 PENK 5179 broad.mit.edu 37 8 57353976 57353976 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:57353976G>C ENST00000314922.3 - 2 735 c.659C>G c.(658-660)cCa>cGa p.P220R PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.P220R NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 220 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.P220R(1) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CCACCACTCTGGGCGACCTAC 0.537000 4 137 0 0 3.59834e-05 0 0 LRFN1 57622 broad.mit.edu 37 19 39805525 39805525 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:39805525C>G ENST00000248668.4 - 1 451 c.452G>C c.(451-453)cGg>cCg p.R151P CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 151 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CGACTCCACCCGGCGGATCTG 0.682000 3 7 0 0 1.23904e-05 0 0 CNR1 1268 broad.mit.edu 37 6 88854765 88854765 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:88854765T>A ENST00000537554.1 - 2 3791 c.229A>T c.(229-231)Aac>Tac p.N77Y CNR1_ENST00000369501.2_Missense_Mutation_p.N77Y|CNR1_ENST00000428600.2_Missense_Mutation_p.N77Y|CNR1_ENST00000535130.1_Missense_Mutation_p.N77Y|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.N77Y|CNR1_ENST00000468898.1_Missense_Mutation_p.N44Y|CNR1_ENST00000549890.1_Missense_Mutation_p.N77Y|CNR1_ENST00000549716.1_Intron NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 77 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.N77Y(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TCTGTAATGTTCACCTGGTCT 0.473000 15 24 0 0 0.000219431 0 0 SRCAP 10847 broad.mit.edu 37 16 30732600 30732600 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:30732600G>T ENST00000262518.4 + 21 3729 c.3344G>T c.(3343-3345)cGc>cTc p.R1115L SRCAP_ENST00000395059.2_Missense_Mutation_p.R1115L|SRCAP_ENST00000344771.4_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1115 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.R1115L(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCCCCAGTTCGCCTGAGCCCA 0.642000 139 102 1.9326e-39 5.76235e-38 0.000147903 1 0 TLR4 7099 broad.mit.edu 37 9 120475790 120475790 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:120475790G>C ENST00000355622.6 + 3 1485 c.1384G>C c.(1384-1386)Gct>Cct p.A462P TLR4_ENST00000394487.4_Missense_Mutation_p.A422P|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 462 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.A462P(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CACCAGAGTTGCTTTCAATGG 0.398000 60 80 0 0 0.000147903 0 0 SLC39A2 29986 broad.mit.edu 37 14 21467712 21467712 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr14:21467712C>A ENST00000298681.4 + 1 264 c.107C>A c.(106-108)gCa>gAa p.A36E SLC39A2_ENST00000554422.1_Missense_Mutation_p.A36E NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 36 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity p.A36E(1) breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) CAGATTGATGCAGCCAGAGGT 0.507000 28 17 4.43304e-23 1.25744e-21 0.000147802 1 0 MUC16 94025 broad.mit.edu 37 19 9084758 9084758 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:9084758C>A ENST00000397910.4 - 1 7260 c.7057G>T c.(7057-7059)Gat>Tat p.D2353Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2353 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.D2353Y(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCAAGGATATCTGAGGTTTTT 0.453000 21 11 1.64113e-05 0.000392973 0.000175454 1 0 NOX4 50507 broad.mit.edu 37 11 89070632 89070632 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:89070632G>C ENST00000535633.1 - 16 1736 c.1426C>G c.(1426-1428)Caa>Gaa p.Q476E NOX4_ENST00000534731.1_Missense_Mutation_p.Q460E|NOX4_ENST00000343727.5_Missense_Mutation_p.Q476E|NOX4_ENST00000263317.4_Missense_Mutation_p.Q500E|NOX4_ENST00000527956.1_Missense_Mutation_p.Q476E|NOX4_ENST00000424319.1_Missense_Mutation_p.Q476E|NOX4_ENST00000532825.1_Missense_Mutation_p.Q436E|NOX4_ENST00000413594.2_Missense_Mutation_p.Q521E|NOX4_ENST00000528341.1_Missense_Mutation_p.Q475E|NOX4_ENST00000531342.1_Missense_Mutation_p.Q153E|NOX4_ENST00000542487.1_Missense_Mutation_p.Q476E|NOX4_ENST00000375979.3_Missense_Mutation_p.Q193E|NOX4_ENST00000527626.1_Missense_Mutation_p.Q313E|NOX4_ENST00000525196.1_Missense_Mutation_p.Q264E NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 500 Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.Q500E(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CCATCTGTTTGACTGAGGTAC 0.393000 21 37 0 0 0.000184323 0 0 ABCB4 5244 broad.mit.edu 37 7 87082321 87082321 + Nonsense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:87082321G>A ENST00000265723.4 - 6 586 c.475C>T c.(475-477)Cga>Tga p.R159* ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R159*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R159*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R159*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R159* NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 159 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.R159*(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATTTCCTGTCGTAGAATAGCA 0.393000 40 70 0 0 0.000319135 0 0 NUP43 348995 broad.mit.edu 37 6 150067629 150067629 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:150067629C>G ENST00000367403.3 - 1 185 c.186G>C c.(184-186)atG>atC p.M62I NUP43_ENST00000367404.4_Start_Codon_SNP_p.M1I|NUP43_ENST00000463048.3_Intron|NUP43_ENST00000340413.2_Start_Codon_SNP_p.M1I|NUP43_ENST00000460354.2_Start_Codon_SNP_p.M1I Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 1 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding p.M1I(1) breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) AAATTTCCTCCATGCCGAAAG 0.567000 OREG0017720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 152 0 0 1.23904e-05 0 0 LRRC28 123355 broad.mit.edu 37 15 99926275 99926275 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:99926275C>G ENST00000301981.3 + 10 1312 c.1072C>G c.(1072-1074)Cag>Gag p.Q358E LRRC28_ENST00000331450.5_Missense_Mutation_p.Q84E|LRRC28_ENST00000422500.2_Missense_Mutation_p.Q289E|LRRC28_ENST00000447360.2_Silent_p.P304P|LRRC28_ENST00000558879.1_3'UTR NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 358 p.Q358E(1) endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CTGCTCCACCCAGTGTCTGCA 0.493000 7 568 0 0 0.000157383 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189231 50189231 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:50189231C>G ENST00000335999.6 - 8 2613 c.2412G>C c.(2410-2412)ctG>ctC p.L804L NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 800 Pro-rich. p.L804L(1)|p.L395L(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 TGGGCTTGCCCAGGCTTGGGG 0.652000 4 54 0 0 1.23904e-05 0 0 OR4K2 390431 broad.mit.edu 37 14 20344567 20344567 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr14:20344567C>A ENST00000298642.2 + 1 177 c.141C>A c.(139-141)atC>atA p.I47I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I47I(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCATAGTCATCACAGTTATAG 0.423000 107 183 5.4258e-56 1.63876e-54 0.000147903 1 0 TRIM29 23650 broad.mit.edu 37 11 120008375 120008375 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:120008375G>T ENST00000341846.5 - 1 786 c.365C>A c.(364-366)gCc>gAc p.A122D NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 122 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A122D(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GCCCTTTTCGGCAAAGGTAAC 0.617000 64 139 2.66076e-39 7.9166e-38 0.000147903 1 0 AKAP12 9590 broad.mit.edu 37 6 151671920 151671920 + Silent SNP C C G rs140093591 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:151671920C>G ENST00000402676.2 + 4 2634 c.2394C>G c.(2392-2394)ccC>ccG p.P798P AKAP12_ENST00000359755.5_Silent_p.P693P|AKAP12_ENST00000253332.1_Silent_p.P798P|AKAP12_ENST00000354675.6_Silent_p.P700P NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 798 AKAP 3. G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding p.P798P(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) ACACTGAACCCGGTAAAGAAG 0.463000 4 89 0 0 0.00024832 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485199 31485199 + Missense_Mutation SNP G G T rs149961993 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:31485199G>T ENST00000394863.3 + 4 356 c.226G>T c.(226-228)Gcc>Tcc p.A76S TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A59S|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A59S|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A59S NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 76 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding p.A76S(1)|p.A59S(1) lung(8)|upper_aerodigestive_tract(1) 9 AGCCCCGGCGGCCCCTCCATT 0.602000 46 65 1.81118e-26 5.21144e-25 0.000147903 1 0 TDGF1P3 6998 broad.mit.edu 37 X 109764329 109764329 + RNA SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:109764329G>T ENST00000602699.1 + 0 790 NR_002718.2 CGATGCTAACGCCTCTTTTCC 0.393000 53 19 1.95512e-22 5.50109e-21 0.000147903 1 0 CDPF1 150383 broad.mit.edu 37 22 46641089 46641089 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr22:46641089C>G ENST00000314567.3 - 4 695 c.272G>C c.(271-273)cGg>cCg p.R91P CDPF1_ENST00000475605.1_5'UTR|CDPF1_ENST00000404583.1_Missense_Mutation_p.R86P|CDPF1_ENST00000404744.1_3'UTR NM_207327.4 NP_997210.3 cysteine-rich, DPF motif domain containing 1 p.R91P(1) GATGTTCTCCCGGACACAAGG 0.502000 4 38 0 0 1.23904e-05 0 0 TCF20 6942 broad.mit.edu 37 22 42575632 42575632 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr22:42575632G>C ENST00000359486.3 - 2 5868 c.5732C>G c.(5731-5733)cCg>cGg p.P1911R TCF20_ENST00000404876.1_Missense_Mutation_p.P212R|TCF20_ENST00000335626.4_Missense_Mutation_p.P1911R NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1911 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding p.P1911R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 AATGGCACACGGGTAATGGTA 0.502000 4 118 0 0 1.23904e-05 0 0 ITGB1 3688 broad.mit.edu 37 10 33196017 33196017 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:33196017C>G ENST00000423113.1 - 15 2385 c.2386G>C c.(2386-2388)Gga>Cga p.G796R ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000302278.3_Intron|ITGB1_ENST00000374956.4_Intron NM_033668.2 NP_391988.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 796 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) GCTTTACGTCCGTAGTTTGGA 0.323000 6 331 0 0 0.000157383 0 0 PRKCB 5579 broad.mit.edu 37 16 24196864 24196864 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:24196864G>A ENST00000303531.7 + 15 1850 c.1698G>A c.(1696-1698)aaG>aaA p.K566K PRKCB_ENST00000321728.7_Silent_p.K566K NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 566 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.K566K(2) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTATGTCCAAGGAAGCTGTGG 0.512000 32 19 0 0 0.000159656 0 0 NEK11 79858 broad.mit.edu 37 3 130828742 130828742 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:130828742G>C ENST00000383366.4 + 5 725 c.432G>C c.(430-432)ctG>ctC p.L144L NEK11_ENST00000510769.1_Silent_p.L144L|NEK11_ENST00000508196.1_Silent_p.L144L|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000429253.2_Silent_p.L144L|NEK11_ENST00000511262.1_Silent_p.L144L|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000356918.4_Silent_p.L144L|NEK11_ENST00000510688.1_Silent_p.L144L|NEK11_ENST00000507910.1_Silent_p.L144L NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 144 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.L144L(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AGCTGCTGCTGGGAGTTGACT 0.363000 5 142 0 0 1.23904e-05 0 0 C11orf1 64776 broad.mit.edu 37 11 111754522 111754522 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:111754522C>G ENST00000260276.3 + 4 708 c.371C>G c.(370-372)cCa>cGa p.P124R C11orf1_ENST00000528125.1_Missense_Mutation_p.P78R|C11orf1_ENST00000529270.1_Missense_Mutation_p.P164R|C11orf1_ENST00000530214.1_Missense_Mutation_p.Q102E NM_022761.2 NP_073598.1 Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 124 nucleus p.P124R(1) kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) CACTGGTTCCCAGGACATCAA 0.408000 5 167 0 0 3.59834e-05 0 0 OR5P3 120066 broad.mit.edu 37 11 7847399 7847399 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:7847399C>A ENST00000328375.1 - 1 120 c.121G>T c.(121-123)Ggt>Tgt p.G41C RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41C(1) autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTGATATTACCCATTAAGGTG 0.368000 29 63 1.13719e-10 2.90722e-09 0.000227799 1 0 SCLT1 132320 broad.mit.edu 37 4 129886409 129886409 + Missense_Mutation SNP T T G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:129886409T>G ENST00000281142.5 - 11 1345 c.842A>C c.(841-843)cAg>cCg p.Q281P SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 281 centrosome p.Q281P(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TATACTAGACTGTAACTGCTG 0.343000 22 81 0 0 9.22233e-05 0 0 ITGA4 3676 broad.mit.edu 37 2 182347321 182347321 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:182347321C>G ENST00000397033.2 + 9 1414 c.984C>G c.(982-984)ccC>ccG p.P328P NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 328 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.P328P(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGGGAGCACCCATGCAGAGCA 0.498000 5 236 0 0 1.23904e-05 0 0 FCN2 2220 broad.mit.edu 37 9 137772704 137772704 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:137772704G>T ENST00000350339.2 + 1 51 c.37G>T c.(37-39)Gcc>Tcc p.A13S FCN2_ENST00000291744.6_Missense_Mutation_p.A13S NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 13 complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding p.A13S(1) breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) CCTGGGCGCTGCCACCCTGCT 0.612000 16 20 1.50039e-11 3.86399e-10 0.000229342 1 0 PCBP4 57060 broad.mit.edu 37 3 51992957 51992957 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:51992957C>G ENST00000461554.1 - 13 1103 c.772G>C c.(772-774)Ggg>Cgg p.G258R PCBP4_ENST00000322099.7_Missense_Mutation_p.G258R|PCBP4_ENST00000395013.3_Missense_Mutation_p.G98R|PCBP4_ENST00000395014.2_Missense_Mutation_p.G279R|PCBP4_ENST00000471622.1_Missense_Mutation_p.G258R|PCBP4_ENST00000484633.1_Missense_Mutation_p.G215R|PCBP4_ENST00000355852.2_Missense_Mutation_p.G258R|PCBP4_ENST00000428823.2_Missense_Mutation_p.G215R NM_001174100.1 NP_001167571.1 P57723 PCBP4_HUMAN poly(rC) binding protein 4 258 KH 3. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding p.G279R(1)|p.G258R(1) endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCCTGGCGCCCGATCACACAG 0.617000 4 99 0 0 1.23904e-05 0 0 NCOA6 23054 broad.mit.edu 37 20 33330374 33330374 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:33330374G>C ENST00000374796.2 - 12 6256 c.3686C>G c.(3685-3687)cCt>cGt p.P1229R NCOA6_ENST00000359003.2_Missense_Mutation_p.P1229R Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1229 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.P1229R(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TGTGCTGGGAGGGCGGTTGTT 0.512000 126 226 0 0 0.000147903 0 0 MC5R 4161 broad.mit.edu 37 18 13826264 13826264 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:13826264G>C ENST00000324750.3 + 1 722 c.500G>C c.(499-501)tGg>tCg p.W167S NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 167 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding p.W167S(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GCCGGCATCTGGGCTTTCTGC 0.572000 6 300 0 0 8.12818e-05 0 0 DST 667 broad.mit.edu 37 6 56481617 56481617 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:56481617C>G ENST00000370765.6 - 24 6755 c.6648G>C c.(6646-6648)gtG>gtC p.V2216V DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1562 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.V2216V(2) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAGAATATCCCACAGCTGCCT 0.398000 4 82 0 0 1.23904e-05 0 0 DAPK1 1612 broad.mit.edu 37 9 90255752 90255752 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:90255752C>G ENST00000469640.2 + 9 1193 c.818C>G c.(817-819)cCc>cGc p.P273R DAPK1_ENST00000358077.5_Missense_Mutation_p.P273R|DAPK1_ENST00000472284.1_Missense_Mutation_p.P273R|DAPK1_ENST00000491893.1_Missense_Mutation_p.P273R|DAPK1_ENST00000408954.3_Missense_Mutation_p.P273R P53355 DAPK1_HUMAN death-associated protein kinase 1 273 Calmodulin-binding.|Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.P273R(2) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TTGCAGCATCCCTGGATCAAG 0.408000 Chronic Lymphocytic Leukemia, Familial Clustering of 4 141 0 0 3.59834e-05 0 0 AMOTL1 154810 broad.mit.edu 37 11 94599210 94599210 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:94599210C>T ENST00000433060.2 + 11 2506 c.2365C>T c.(2365-2367)Cgt>Tgt p.R789C AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R739C NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 789 cytoplasm|tight junction identical protein binding p.R790C(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CTCCAGCCTACGTCCTGCCCG 0.517000 19 29 0 0 9.7654e-05 0 0 VSIG2 23584 broad.mit.edu 37 11 124618384 124618384 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:124618384C>A ENST00000403470.1 - 6 808 c.753G>T c.(751-753)ctG>ctT p.L251L VSIG2_ENST00000326621.5_Silent_p.L251L Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 251 integral to plasma membrane|membrane fraction p.L251L(1) central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) ACAGCACGCCCAGGAGCACCC 0.587000 27 41 2.47511e-08 6.19175e-07 0.000227799 1 0 ASXL3 80816 broad.mit.edu 37 18 31325208 31325208 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:31325208C>A ENST00000269197.5 + 12 5396 c.5396C>A c.(5395-5397)cCg>cAg p.P1799Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1799 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.P1799Q(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GTTGAAATTCCGCCCAGCTCT 0.498000 44 59 4.01765e-15 1.06812e-13 0.000437636 1 0 DOCK4 9732 broad.mit.edu 37 7 111535745 111535745 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:111535745C>A ENST00000428084.1 - 16 1782 c.1510G>T c.(1510-1512)Ggg>Tgg p.G504W DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.G504W Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 504 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding p.G504W(1)|p.G492W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) AAAGAAAACCCAAACAACTTC 0.398000 11 341 0.000219431 0.00507195 0.000219431 1 0 ABCA1 19 broad.mit.edu 37 9 107578466 107578466 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:107578466C>G ENST00000374736.3 - 25 4090 c.3696G>C c.(3694-3696)ctG>ctC p.L1232L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1232 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding p.L1232L(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAGAAATGCCCAGGTCTGAGA 0.483000 6 299 0 0 8.12818e-05 0 0 SLC52A2 79581 broad.mit.edu 37 8 145583398 145583398 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:145583398G>T ENST00000532887.1 + 3 829 c.246G>T c.(244-246)cgG>cgT p.R82R SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000402965.1_Silent_p.R82R|SLC52A2_ENST00000530047.1_Silent_p.R82R|SLC52A2_ENST00000329994.2_Silent_p.R82R|SLC52A2_ENST00000527078.1_Silent_p.R82R|SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000526891.1_3'UTR Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 82 integral to plasma membrane receptor activity|riboflavin transporter activity p.R82R(1) TCCCCATCCGGGTGGTGCAGG 0.637000 32 29 2.47316e-13 6.47652e-12 8.91981e-05 1 0 PRCC 5546 broad.mit.edu 37 1 156756632 156756632 + Missense_Mutation SNP A A G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:156756632A>G ENST00000271526.4 + 3 1021 c.749A>G c.(748-750)aAg>aGg p.K250R PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.K250R NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 250 cell cycle|mitotic cell cycle checkpoint nucleus protein binding p.K250R(1) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTGCTGCCAAGAGTGCTGCC 0.557000 T TFE3 papillary renal 17 9 0 0 0.000422831 0 0 HIST1H2BM 8342 broad.mit.edu 37 6 27783099 27783099 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:27783099G>C ENST00000359465.4 + 1 278 c.278G>C c.(277-279)aGg>aCg p.R93T NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 93 nucleosome assembly nucleosome|nucleus DNA binding p.R93T(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 ATCACTTCGAGGGAGATCCAG 0.587000 4 82 0 0 1.23904e-05 0 0 TUBA3D 113457 broad.mit.edu 37 2 132240385 132240385 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:132240385C>G ENST00000321253.6 + 5 1424 c.1317C>G c.(1315-1317)tcC>tcG p.S439S NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 439 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.S439S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GCGTGGATTCCGTGGAAGCTG 0.582000 4 181 0 0 1.23904e-05 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733173 52733173 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:52733173C>A ENST00000360540.5 - 7 1218 c.812G>T c.(811-813)aGg>aTg p.R271M PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195M|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271M NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 271 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity p.R271M(2) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GGGTGGAGCCCTTTGAGGAAT 0.423000 10 198 1.49906e-05 0.000359568 0.000219431 1 0 OXLD1 339229 broad.mit.edu 37 17 79632502 79632502 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:79632502C>G ENST00000374741.3 - 2 183 c.173G>C c.(172-174)gGg>gCg p.G58A OXLD1_ENST00000573786.1_5'UTR|OXLD1_ENST00000571503.1_3'UTR NM_001039842.1 NP_001034931.1 oxidoreductase-like domain containing 1 p.G58A(1) GTGGTCTGTCCCGAATTTTCT 0.647000 3 22 0 0 6.4e-05 0 0 PDPR 55066 broad.mit.edu 37 16 70180115 70180115 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:70180115C>A ENST00000288050.4 + 16 2903 c.1946C>A c.(1945-1947)cCa>cAa p.P649Q PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Missense_Mutation_p.P7Q|PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.P649Q|PDPR_ENST00000398122.3_Missense_Mutation_p.P549Q NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 649 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GACCACTTCCCAAGCCTCTTT 0.453000 10 266 3.27435e-08 8.17653e-07 0.000219431 1 0 LAMB2 3913 broad.mit.edu 37 3 49168416 49168416 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:49168416G>C ENST00000418109.1 - 8 1046 c.882C>G c.(880-882)ccC>ccG p.P294P LAMB2_ENST00000305544.4_Silent_p.P294P NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 294 Laminin EGF-like 1. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity p.P294P(1) NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCCTGGGGCGGGTGCACACT 0.612000 4 54 0 0 1.23904e-05 0 0 ATP13A5 344905 broad.mit.edu 37 3 192994553 192994553 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:192994553C>A ENST00000342358.4 - 29 3499 c.3382G>T c.(3382-3384)Gct>Tct p.A1128S ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1128 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.A1128S(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACAAAGAAAGCCACACAGAAT 0.353000 14 50 4.14922e-12 1.07649e-10 0.000422831 1 0 NMT2 9397 broad.mit.edu 37 10 15172176 15172176 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:15172176C>G ENST00000378165.4 - 7 935 c.855G>C c.(853-855)gcG>gcC p.A285A NMT2_ENST00000535341.1_Silent_p.A272A|NMT2_ENST00000540259.1_Silent_p.A97A|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Silent_p.A272A NM_004808.2 NP_004799.1 O60551 NMT2_HUMAN N-myristoyltransferase 2 285 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity p.A285A(1) breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3) 21 GAACCACTCCCGCGGTGTACA 0.488000 4 144 0 0 1.23904e-05 0 0 PLB1 151056 broad.mit.edu 37 2 28812874 28812874 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:28812874G>C ENST00000422425.2 + 28 2030 c.1986G>C c.(1984-1986)ctG>ctC p.L662L PLB1_ENST00000327757.5_Silent_p.L673L|PLB1_ENST00000329020.6_Silent_p.L361L NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 673 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity p.L673L(1)|p.L662L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TTGTTTAGCTGGAGCCTGTTG 0.542000 5 246 0 0 3.59834e-05 0 0 RYR2 6262 broad.mit.edu 37 1 237843766 237843766 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:237843766C>A ENST00000366574.2 + 62 9223 c.8906C>A c.(8905-8907)cCt>cAt p.P2969H RYR2_ENST00000542537.1_Missense_Mutation_p.P2953H|RYR2_ENST00000360064.6_Missense_Mutation_p.P2967H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2969 Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P2967H(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTCGTTCTTCCTTTAATTGAT 0.423000 37 12 1.69901e-12 4.44093e-11 0.000191422 1 0 CLIC4 25932 broad.mit.edu 37 1 25167381 25167381 + Nonsense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:25167381G>T ENST00000374379.4 + 6 912 c.715G>T c.(715-717)Gag>Tag p.E239* NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 239 GST C-terminal. cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity p.E239*(1) large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) CAGTGATAAGGAGGTTGAAAT 0.398000 34 20 3.90053e-15 1.03895e-13 0.000409698 1 0 CFHR4 10877 broad.mit.edu 37 1 196884178 196884178 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:196884178G>C ENST00000367416.2 + 9 1584 c.1447G>C c.(1447-1449)Gag>Cag p.E483Q CFHR4_ENST00000251424.4_Missense_Mutation_p.E237Q|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.E237Q NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.E483Q(1)|p.E237Q(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GTCAAGAGTCGAGTACCAATG 0.423000 4 225 0 0 0.00024832 0 0 LRP1B 53353 broad.mit.edu 37 2 141264383 141264383 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:141264383C>T ENST00000389484.3 - 53 9474 c.8503G>A c.(8503-8505)Gat>Aat p.D2835N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2835 LDL-receptor class A 18. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D2835N(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGTGACTCATCAGAGCCATCT 0.368000 TSP Lung(27;0.18) 52 96 0 0 0.000147903 0 0 GFRA1 2674 broad.mit.edu 37 10 117849334 117849334 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:117849334C>G ENST00000439649.3 - 8 1467 c.1100G>C c.(1099-1101)cGg>cCg p.R367P GFRA1_ENST00000369236.1_Missense_Mutation_p.R367P|GFRA1_ENST00000544592.1_Missense_Mutation_p.R251P|GFRA1_ENST00000355422.6_Missense_Mutation_p.R372P NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 372 Poly-Thr. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity p.R367P(1) endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GTTCTTAACCCGGAGGGCAGT 0.542000 3 59 0 0 0.00024832 0 0 STAG2 10735 broad.mit.edu 37 X 123217337 123217337 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:123217337G>C ENST00000371160.1 + 29 3281 c.2991G>C c.(2989-2991)ttG>ttC p.L997F STAG2_ENST00000218089.9_Missense_Mutation_p.L997F|STAG2_ENST00000354548.5_Missense_Mutation_p.L928F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.L997F|STAG2_ENST00000371157.3_Missense_Mutation_p.L997F|STAG2_ENST00000371144.3_Missense_Mutation_p.L997F Q8N3U4 STAG2_HUMAN stromal antigen 2 997 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding p.L997F(2) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CTTTAAATTTGGCATTTCTTG 0.323000 49 16 0 0 0.000147903 0 0 DOCK7 85440 broad.mit.edu 37 1 63008322 63008322 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:63008322C>G ENST00000251157.5 - 25 3035 c.3002G>C c.(3001-3003)cGg>cCg p.R1001P DOCK7_ENST00000340370.5_Missense_Mutation_p.R970P NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1001 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding p.R970Q(2)|p.R970P(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 AGCTGATTCCCGAACGCTGCC 0.378000 4 94 0 0 1.23904e-05 0 0 FAM175B 23172 broad.mit.edu 37 10 126517402 126517402 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:126517402C>T ENST00000298492.5 + 6 581 c.536C>T c.(535-537)cCa>cTa p.P179L NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 179 BRISC complex polyubiquitin binding p.P179L(1) NS(1) 1 TCTTCAGTGCCAAATACTTCT 0.353000 30 62 0 0 8.91981e-05 0 0 MLXIP 22877 broad.mit.edu 37 12 122614649 122614649 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:122614649C>T ENST00000319080.6 + 6 1032 c.900C>T c.(898-900)ccC>ccT p.P300P Q9HAP2 MLXIP_HUMAN MLX interacting protein 300 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding p.P300P(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GGCCCAATCCCCGGGAAATAG 0.602000 7 9 0 0 0.000157383 0 0 G6PC 2538 broad.mit.edu 37 17 41052971 41052971 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:41052971C>T ENST00000253801.2 + 1 157 c.78C>T c.(76-78)tcC>tcT p.S26S G6PC_ENST00000592383.1_Silent_p.S26S|G6PC_ENST00000585489.1_Silent_p.S26S NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 26 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding p.S26S(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) ACCAAGACTCCCAGGACTGGT 0.502000 43 28 0 0 0.000374591 0 0 CROT 54677 broad.mit.edu 37 7 87022321 87022321 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:87022321G>C ENST00000331536.3 + 17 1841 c.1656G>C c.(1654-1656)caG>caC p.Q552H CROT_ENST00000442291.1_Missense_Mutation_p.Q552H|CROT_ENST00000419147.2_Missense_Mutation_p.Q580H NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 552 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity p.Q552H(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TACGAGTCCAGGGAGTGGTAG 0.418000 5 197 0 0 1.23904e-05 0 0 SUPT6H 6830 broad.mit.edu 37 17 27014204 27014204 + Silent SNP C C A rs145262815 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:27014204C>A ENST00000314616.6 + 22 3082 c.2799C>A c.(2797-2799)tcC>tcA p.S933S SUPT6H_ENST00000347486.4_Silent_p.S933S NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 933 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity p.S933S(1) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TGTGCAGTTCCGATGAAGACA 0.562000 6 150 0.000157383 0.00364379 0.000157383 1 0 SNX13 23161 broad.mit.edu 37 7 17843055 17843055 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:17843055T>A ENST00000409389.1 - 21 2418 c.2246A>T c.(2245-2247)cAa>cTa p.Q749L SNX13_ENST00000428135.3_Missense_Mutation_p.Q738L|SNX13_ENST00000496855.1_5'UTR Q9Y5W8 SNX13_HUMAN sorting nexin 13 749 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity p.Q738L(1) breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) AAAAAATGATTGCTTTATGTC 0.338000 12 22 0 0 0.000219431 0 0 TANGO6 79613 broad.mit.edu 37 16 68912103 68912103 + Nonsense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:68912103C>G ENST00000261778.1 + 6 1226 c.1214C>G c.(1213-1215)tCa>tGa p.S405* NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) p.S405*(1) ATAACTTTGTCAAGAGAACGC 0.408000 28 49 0 0 0.000339439 0 0 ZNF276 92822 broad.mit.edu 37 16 89788983 89788983 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:89788983G>C ENST00000289816.5 + 2 337 c.25G>C c.(25-27)Ggg>Cgg p.G9R ZNF276_ENST00000568064.1_Missense_Mutation_p.G9R|ZNF276_ENST00000443381.2_Missense_Mutation_p.G84R|ZNF276_ENST00000446326.2_5'UTR NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G9R(1)|p.G84R(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CCTCTGCCACGGGAAGTTTTC 0.647000 4 70 0 0 0.00024832 0 0 TRBV10-2 28584 broad.mit.edu 37 7 142206615 142206615 + RNA SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:142206615G>C ENST00000426318.2 - 0 290 CATAGCCATCGGGGACTTCTC 0.507000 5 153 0 0 3.59834e-05 0 0 COL5A2 1290 broad.mit.edu 37 2 189945770 189945770 + Splice_Site SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:189945770C>G ENST00000374866.3 - 13 1127 c.e13-1 NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.?(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CACGAGCTCCCTGGGAGGAAA 0.398000 4 120 0 0 0.00024832 0 0 ZEB2 9839 broad.mit.edu 37 2 145156296 145156296 + Missense_Mutation SNP A A C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:145156296A>C ENST00000558170.2 - 8 3642 c.2458T>G c.(2458-2460)Tta>Gta p.L820V ZEB2_ENST00000303660.4_Missense_Mutation_p.L820V|ZEB2_ENST00000539609.3_Missense_Mutation_p.L796V|ZEB2_ENST00000409487.3_Missense_Mutation_p.L820V NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 820 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.L820V(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TGTTTTGGTAATGACAAGTCT 0.383000 74 99 0 0 0.000147903 0 0 SLC1A3 6507 broad.mit.edu 37 5 36608612 36608612 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:36608612C>A ENST00000265113.4 + 2 563 c.87C>A c.(85-87)gcC>gcA p.A29A SLC1A3_ENST00000381918.3_Silent_p.A29A|SLC1A3_ENST00000506725.1_3'UTR NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 29 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.A29A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CACTTTTGGCCAAGAAGAAAG 0.453000 79 301 2.72187e-29 7.96288e-28 0.000147903 1 0 KIAA2022 340533 broad.mit.edu 37 X 73960673 73960673 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:73960673C>A ENST00000373468.1 - 3 4370 c.3719G>T c.(3718-3720)gGc>gTc p.G1240V KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1240V Q5QGS0 K2022_HUMAN KIAA2022 1240 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.G1240F(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ACGGCCAATGCCAATTTGCAT 0.493000 23 8 2.21704e-12 5.77337e-11 0.000375601 1 0 HTT 3064 broad.mit.edu 37 4 3134425 3134425 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:3134425G>C ENST00000355072.5 + 17 2518 c.2373G>C c.(2371-2373)atG>atC p.M791I NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 791 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding p.M791I(1) breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GAGATTGGATGGGCACCATTA 0.488000 5 143 0 0 1.23904e-05 0 0 PPP1R3D 5509 broad.mit.edu 37 20 58514122 58514122 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:58514122C>G ENST00000370996.3 - 1 1230 c.865G>C c.(865-867)Ggg>Cgg p.G289R FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 289 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity p.G289R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) TCGCACTCCCCGCGAGGCATG 0.642000 3 37 0 0 0.00024832 0 0 CEP72 55722 broad.mit.edu 37 5 640629 640629 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:640629C>G ENST00000264935.5 + 9 1539 c.1449C>G c.(1447-1449)tcC>tcG p.S483S CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 483 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol p.S483S(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) AGAGTAAGTCCCTGCAAAGCC 0.597000 5 141 0 0 3.59834e-05 0 0 SLC16A1 6566 broad.mit.edu 37 1 113464670 113464670 + Silent SNP A A T rs148691598 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:113464670A>T ENST00000538576.1 - 3 1134 c.303T>A c.(301-303)atT>atA p.I101I SLC16A1_ENST00000369626.3_Silent_p.I101I|SLC16A1_ENST00000433570.4_Silent_p.I101I NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 101 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity p.I101I(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) AAGAAGCTGCAATCAAGCCAC 0.418000 25 30 0 0 0.00047179 0 0 IQCF1 132141 broad.mit.edu 37 3 51937040 51937040 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:51937040C>T ENST00000310914.5 - 2 131 c.69G>A c.(67-69)atG>atA p.M23I NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 23 p.M23I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AATGGGTTGGCATCTCCTTCT 0.512000 255 406 0 0 0.000147903 0 0 RNF165 494470 broad.mit.edu 37 18 44030290 44030290 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:44030290C>G ENST00000269439.7 + 5 698 c.647C>G c.(646-648)cCt>cGt p.P216R RNF165_ENST00000543885.1_Missense_Mutation_p.P24R NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 216 zinc ion binding p.P216R(1) NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) TACCCTTACCCTCAGCTTCAC 0.512000 20 46 0 0 0.000295444 0 0 CCDC25 55246 broad.mit.edu 37 8 27610105 27610105 + Splice_Site SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:27610105C>G ENST00000356537.4 - 5 262 c.e5-1 CCDC25_ENST00000539095.1_Splice_Site|CCDC25_ENST00000522915.1_Splice_Site|RP11-16P20.3_ENST00000521510.1_RNA NM_018246.2 NP_060716.2 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 p.?(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) TATTCTCTCCCTGAAACACAA 0.428000 4 48 0 0 1.23904e-05 0 0 ARID2 196528 broad.mit.edu 37 12 46230610 46230610 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:46230610C>A ENST00000334344.6 + 8 1031 c.859C>A c.(859-861)Ctt>Att p.L287I ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L138I NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 287 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.L287I(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACAGCGGGTACTTCAGATTGC 0.413000 """N, S, F""" hepatocellular carcinoma 41 73 2.95478e-19 8.16593e-18 0.000374591 1 0 IFT172 26160 broad.mit.edu 37 2 27708286 27708286 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:27708286G>T ENST00000260570.3 - 2 227 c.124C>A c.(124-126)Ctg>Atg p.L42M IFT172_ENST00000416524.2_Missense_Mutation_p.L21M|IFT172_ENST00000359466.6_Missense_Mutation_p.L42M NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 42 cilium assembly cilium binding p.L42M(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TCATCATACAGCAAGACCACT 0.458000 46 82 5.85753e-14 1.53969e-12 0.000147903 1 0 FNBP1L 54874 broad.mit.edu 37 1 94014920 94014920 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:94014920G>A ENST00000260506.8 + 13 1565 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K FNBP1L_ENST00000370256.4_Missense_Mutation_p.E525K|FNBP1L_ENST00000271234.7_Missense_Mutation_p.E530K|FNBP1L_ENST00000370253.2_Missense_Mutation_p.E472K|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E530K NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 530 Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding p.E472K(1)|p.E530K(1) breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) GTTTGATGATGAATTTGAGGA 0.393000 113 39 0 0 0.000147903 0 0 SP3 6670 broad.mit.edu 37 2 174820400 174820400 + Silent SNP C C A rs146827142 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:174820400C>A ENST00000310015.6 - 4 1370 c.840G>T c.(838-840)tcG>tcT p.S280S SP3_ENST00000455789.2_Silent_p.S227S|SP3_ENST00000418194.2_Silent_p.S212S NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 280 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding p.S280S(1) EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) GAGAACTGCCCGAGAGTCCCA 0.443000 9 164 0.000274275 0.0062264 0.000274275 1 0 USP38 84640 broad.mit.edu 37 4 144135082 144135082 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:144135082C>G ENST00000307017.4 + 9 2459 c.1953C>G c.(1951-1953)ccC>ccG p.P651P USP38_ENST00000510377.1_Silent_p.P651P NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 651 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) CCTCTGTACCCGGTCCTTCAG 0.438000 7 261 0 0 0.000274275 0 0 IL24 11009 broad.mit.edu 37 1 207076354 207076354 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:207076354G>A ENST00000367093.3 + 6 689 c.415G>A c.(415-417)Ggg>Agg p.G139R IL24_ENST00000294984.2_Missense_Mutation_p.G191R|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.G192R NM_001185157.1|NM_001185158.1 NP_001172086.1|NP_001172087.1 Q13007 IL24_HUMAN interleukin 24 191 apoptosis extracellular space cytokine activity p.G191R(1) endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) CAAAGCCCTTGGGGAAGTGGA 0.498000 17 267 0 0 0.000132079 0 0 ATG16L2 89849 broad.mit.edu 37 11 72540382 72540382 + Missense_Mutation SNP G G C rs142770133 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:72540382G>C ENST00000321297.5 + 18 1945 c.1807G>C c.(1807-1809)Ggg>Cgg p.G603R ATG16L2_ENST00000534905.1_Intron NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 603 autophagy|protein transport cytoplasm protein binding p.G603R(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTGCTACTCCGGGAGCCACAT 0.672000 3 36 0 0 6.4e-05 0 0 KLHL1 57626 broad.mit.edu 37 13 70314593 70314593 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:70314593G>T ENST00000377844.4 - 8 2494 c.1735C>A c.(1735-1737)Caa>Aaa p.Q579K KLHL1_ENST00000545028.1_Missense_Mutation_p.Q386K NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 579 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.Q579K(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AATGTCCATTGTTGACTCTGT 0.408000 28 39 1.26454e-06 3.10234e-05 0.000117367 1 0 YME1L1 10730 broad.mit.edu 37 10 27437844 27437844 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:27437844G>C ENST00000326799.3 - 2 307 c.159C>G c.(157-159)ccC>ccG p.P53P YME1L1_ENST00000375972.3_Silent_p.P53P|YME1L1_ENST00000376016.3_Silent_p.P53P|YME1L1_ENST00000477432.1_Silent_p.P53P NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 53 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity p.P53P(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 CCTCACTGCTGGGAGCCTCAT 0.433000 6 259 0 0 3.59834e-05 0 0 NAGS 162417 broad.mit.edu 37 17 42082136 42082136 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:42082136G>A ENST00000293404.3 + 1 223 c.105G>A c.(103-105)gcG>gcA p.A35A NM_153006.2 NP_694551.1 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 35 arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity p.A35A(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) GCTGTggcgcgcggcggcggg 0.786000 6 6 0 0 3.59834e-05 0 0 BEND2 139105 broad.mit.edu 37 X 18194094 18194094 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:18194094G>T ENST00000380033.4 - 11 1882 c.1750C>A c.(1750-1752)Cca>Aca p.P584T BEND2_ENST00000380030.3_Missense_Mutation_p.P493T NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 584 p.P584T(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TAACTTACTGGAGTACTCTTG 0.388000 24 7 1.39806e-14 3.69573e-13 0.000227799 1 0 PSG5 5673 broad.mit.edu 37 19 43689024 43689024 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:43689024G>C ENST00000404580.1 - 2 428 c.340C>G c.(340-342)Cgg>Ggg p.R114G PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.R114G|PSG5_ENST00000407356.1_Missense_Mutation_p.R114G|PSG5_ENST00000366175.3_Missense_Mutation_p.R114G|PSG5_ENST00000599812.1_Missense_Mutation_p.R114G|PSG5_ENST00000342951.6_Missense_Mutation_p.R114G Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 114 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GCGTCTTCCCGGGTGACATTC 0.428000 6 260 0 0 3.59834e-05 0 0 APOB 338 broad.mit.edu 37 2 21242677 21242677 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:21242677G>T ENST00000233242.1 - 19 3044 c.2917C>A c.(2917-2919)Ctg>Atg p.L973M NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 973 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.L973M(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGTAATTCAGGCCAGGAAAG 0.537000 40 64 4.44401e-20 1.23795e-18 0.000509022 1 0 DST 667 broad.mit.edu 37 6 56516036 56516036 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:56516036G>T ENST00000370754.5 - 10 1121 c.1122C>A c.(1120-1122)gaC>gaA p.D374E DST_ENST00000421834.2_Missense_Mutation_p.D196E|DST_ENST00000370769.4_Missense_Mutation_p.D196E|DST_ENST00000370788.2_Missense_Mutation_p.D196E|DST_ENST00000312431.6_Missense_Mutation_p.D196E|DST_ENST00000361203.3_Missense_Mutation_p.D196E Q03001 DYST_HUMAN dystonin 196 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.D196E(1)|p.D374E(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATCTATCAGGTCCGGCCTAG 0.343000 9 14 0.000274275 0.0062264 0.000274275 1 0 SELP 6403 broad.mit.edu 37 1 169563945 169563945 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:169563945C>T ENST00000263686.6 - 13 2309 c.2272G>A c.(2272-2274)Gtg>Atg p.V758M SELP_ENST00000458599.2_Missense_Mutation_p.V574M|SELP_ENST00000367791.2_Missense_Mutation_p.V572M|SELP_ENST00000367794.2_Missense_Mutation_p.V696M|SELP_ENST00000367792.2_Missense_Mutation_p.V574M|SELP_ENST00000367788.2_Missense_Mutation_p.V696M|SELP_ENST00000367786.2_Missense_Mutation_p.V696M|SELP_ENST00000367793.2_Missense_Mutation_p.V696M NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 758 Sushi 9. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.V758M(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGGTTGGCACGGTAGTTGAC 0.433000 8 105 0 0 0.000274275 0 0 FLG 2312 broad.mit.edu 37 1 152282432 152282432 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:152282432C>G ENST00000368799.1 - 3 4965 c.4930G>C c.(4930-4932)Ggg>Cgg p.G1644R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1644 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G1644R(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGAGTGCCCATGACTGGCT 0.552000 Ichthyosis 8 400 0 0 0.000274275 0 0 OR5F1 338674 broad.mit.edu 37 11 55761692 55761692 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:55761692G>A ENST00000278409.1 - 1 409 c.410C>T c.(409-411)tCc>tTc p.S137F NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S137F(1) endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GACGGTCCTGGACATGATCAA 0.512000 33 34 0 0 0.000339439 0 0 FLG 2312 broad.mit.edu 37 1 152286385 152286385 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:152286385C>G ENST00000368799.1 - 3 1012 c.977G>C c.(976-978)tGg>tCg p.W326S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 326 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.W326S(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTGCTCCCACGCAGATCC 0.567000 Ichthyosis 5 261 0 0 1.23904e-05 0 0 CTRC 11330 broad.mit.edu 37 1 15770006 15770006 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:15770006C>G ENST00000375949.4 + 5 475 c.449C>G c.(448-450)cCc>cGc p.P150R CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 150 Peptidase S1. proteolysis serine-type endopeptidase activity p.P150R(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCCTGCTCCCCAAGGACTAC 0.582000 4 86 0 0 0.00024832 0 0 NRXN1 9378 broad.mit.edu 37 2 50149313 50149313 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:50149313C>G ENST00000404971.1 - 24 5752 c.4413G>C c.(4411-4413)acG>acC p.T1471T NRXN1_ENST00000401669.2_Silent_p.T1431T|NRXN1_ENST00000342183.5_Silent_p.T366T|NRXN1_ENST00000406859.3_Silent_p.T1401T|NRXN1_ENST00000402717.3_Silent_p.T1423T|NRXN1_ENST00000405472.3_Silent_p.T1423T|NRXN1_ENST00000406316.2_Silent_p.T1401T|NRXN1_ENST00000401710.1_Silent_p.T419T NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1401 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.T366T(2)|p.T1401T(1)|p.T1472T(1)|p.T1471T(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGACCATACCCGTGGTGCTGC 0.552000 4 47 0 0 1.23904e-05 0 0 FAM65B 9750 broad.mit.edu 37 6 24843408 24843408 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:24843408C>T ENST00000259698.4 - 14 1777 c.1602G>A c.(1600-1602)gaG>gaA p.E534E FAM65B_ENST00000540914.1_Silent_p.E484E|FAM65B_ENST00000378023.4_Silent_p.E484E|FAM65B_ENST00000510784.2_Silent_p.E518E|FAM65B_ENST00000538035.1_Silent_p.E513E NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 534 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding p.E484E(1)|p.E534E(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 CAACATCATTCTCAAGGAACA 0.572000 56 78 0 0 0.000147903 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153277474 153277474 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:153277474G>C ENST00000290722.1 - 3 377 c.325C>G c.(325-327)Cag>Gag p.Q109E NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 109 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.Q109E(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTGTAGCCCTGGGTGTGCAAG 0.498000 4 55 0 0 1.23904e-05 0 0 CKAP5 9793 broad.mit.edu 37 11 46775022 46775022 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:46775022C>G ENST00000529230.1 - 37 4941 c.4895G>C c.(4894-4896)cGg>cCg p.R1632P CKAP5_ENST00000312055.5_Missense_Mutation_p.R1572P|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1632P|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1572P Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1632 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GGAGGCCTCCCGGGCAAGGCT 0.458000 5 122 0 0 1.23904e-05 0 0 UBE2O 63893 broad.mit.edu 37 17 74392594 74392594 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:74392594G>C ENST00000319380.7 - 14 2488 c.2424C>G c.(2422-2424)ccC>ccG p.P808P NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 808 ATP binding|ubiquitin-protein ligase activity p.P808P(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GGAAGCTCTTGGGTGGCCCGT 0.632000 5 145 0 0 8.12818e-05 0 0 OR2L3 391192 broad.mit.edu 37 1 248224549 248224549 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:248224549T>A ENST00000359959.3 + 1 566 c.566T>A c.(565-567)aTg>aAg p.M189K OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M189N(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTGGCCTGCATGGACACCTGG 0.473000 81 70 0 0 0.000147903 0 0 XIRP2 129446 broad.mit.edu 37 2 168100039 168100039 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:168100039G>T ENST00000409195.1 + 9 2226 c.2137G>T c.(2137-2139)Gtt>Ttt p.V713F XIRP2_ENST00000409273.1_Missense_Mutation_p.V491F|XIRP2_ENST00000295237.9_Missense_Mutation_p.V713F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 538 actin cytoskeleton organization cell junction actin binding p.V713F(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGTGGATGAGGTTCATTTACT 0.363000 14 28 3.41278e-10 8.64572e-09 5.01169e-05 1 0 NUDT22 84304 broad.mit.edu 37 11 63994191 63994191 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:63994191G>C ENST00000279206.3 + 2 223 c.67G>C c.(67-69)Gcc>Ccc p.A23P NUDT22_ENST00000441250.2_Missense_Mutation_p.A23P NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720.1 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 23 hydrolase activity p.A23P(1) breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 GCAGATACAGGCCGAGCTGAG 0.672000 3 40 0 0 6.4e-05 0 0 DST 667 broad.mit.edu 37 6 56373423 56373423 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:56373423C>G ENST00000370754.5 - 75 19049 c.19050G>C c.(19048-19050)ttG>ttC p.L6350F DST_ENST00000244364.6_Missense_Mutation_p.L3758F|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.L5846F|DST_ENST00000421834.2_Missense_Mutation_p.L4084F|DST_ENST00000370769.4_Missense_Mutation_p.L6172F|DST_ENST00000370788.2_Missense_Mutation_p.L3975F|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.L6061F Q03001 DYST_HUMAN dystonin 6170 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.L6172F(1)|p.L3758F(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGGTAACTATCAATGACATGT 0.428000 70 123 0 0 0.000147903 0 0 FLG 2312 broad.mit.edu 37 1 152284828 152284828 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:152284828G>C ENST00000368799.1 - 3 2569 c.2534C>G c.(2533-2535)cCg>cGg p.P845R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 845 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTTGACCCCGGGTGTCCACG 0.587000 Ichthyosis 6 402 0 0 3.59834e-05 0 0 SLC38A2 54407 broad.mit.edu 37 12 46758304 46758304 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:46758304C>G ENST00000256689.5 - 10 1185 c.741G>C c.(739-741)gtG>gtC p.V247V SLC38A2_ENST00000551374.1_Silent_p.V85V NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 247 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.V247V(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) AAGCAGCTTCCACAGGACACG 0.353000 5 365 0 0 1.23904e-05 0 0 CTSD 1509 broad.mit.edu 37 11 1778748 1778748 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:1778748G>A ENST00000427721.1 - 2 121 c.122C>T c.(121-123)gCg>gTg p.A41V CTSD_ENST00000236671.2_Silent_p.G170G p.G170G(1) CTTTGACACCGCCCAGGGCAG 0.642000 OREG0003774 type=REGULATORY REGION|Gene=CTSD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 10 0 0 8.12818e-05 0 0 TCAP 8557 broad.mit.edu 37 17 37821714 37821714 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:37821714C>G ENST00000309889.2 + 1 1275 c.102C>G c.(100-102)ccC>ccG p.P34P TCAP_ENST00000578283.1_Silent_p.P34P O15273 TELT_HUMAN titin-cap 34 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding p.P34P(1) kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCACACGGCCCGAGGAGGGGT 0.617000 3 29 0 0 6.4e-05 0 0 HOPX 84525 broad.mit.edu 37 4 57514950 57514950 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:57514950T>A ENST00000337881.7 - 3 814 c.158A>T c.(157-159)cAg>cTg p.Q53L HOPX_ENST00000503639.3_Missense_Mutation_p.Q53L|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000381255.3_Missense_Mutation_p.Q53L|HOPX_ENST00000420433.1_Missense_Mutation_p.Q71L|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000553379.2_Missense_Mutation_p.Q53L|HOPX_ENST00000317745.7_Missense_Mutation_p.Q53L|HOPX_ENST00000556614.2_Missense_Mutation_p.Q53L|HOPX_ENST00000556376.2_Missense_Mutation_p.Q53L|HOPX_ENST00000555760.2_Missense_Mutation_p.Q53L|HOPX_ENST00000508121.1_Missense_Mutation_p.Q71L NM_139212.3 NP_631958.1 Q9BPY8 HOP_HUMAN HOP homeobox 53 negative regulation of cell differentiation|trophectodermal cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q53L(1) large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) TGCCAGGCGCTGCTTAAACCA 0.478000 45 46 0 0 0.000147903 0 0 HOXA3 3200 broad.mit.edu 37 7 27147548 27147548 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:27147548G>A ENST00000396352.4 - 3 1517 c.1318C>T c.(1318-1320)Ctc>Ttc p.L440F HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.L440F NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 440 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L440F(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 AGGTGGGTGAGCTTGGGTGCT 0.572000 29 50 0 0 8.91981e-05 0 0 SELP 6403 broad.mit.edu 37 1 169586367 169586367 + Missense_Mutation SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:169586367T>C ENST00000263686.6 - 3 417 c.380A>G c.(379-381)aAc>aGc p.N127S SELP_ENST00000458599.2_Missense_Mutation_p.N127S|SELP_ENST00000367791.2_Missense_Mutation_p.N127S|SELP_ENST00000367794.2_Missense_Mutation_p.N127S|SELP_ENST00000367792.2_Missense_Mutation_p.N127S|SELP_ENST00000367788.2_Missense_Mutation_p.N127S|SELP_ENST00000367786.2_Missense_Mutation_p.N127S|SELP_ENST00000367793.2_Missense_Mutation_p.N127S NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 127 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.N127S(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GTCCTCGTTGTTCCTTTTGTT 0.468000 157 68 0 0 0.000147903 0 0 BCORL1 63035 broad.mit.edu 37 X 129184716 129184716 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:129184716G>C ENST00000540052.1 + 10 4687 c.4643G>C c.(4642-4644)cGg>cCg p.R1548P BCORL1_ENST00000218147.7_Missense_Mutation_p.R1548P|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1622P|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1418P NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1548 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.R1548P(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CTTCAGGGCCGGGCAGAGGGT 0.502000 4 132 0 0 1.23904e-05 0 0 ARL4A 10124 broad.mit.edu 37 7 12727889 12727889 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:12727889G>C ENST00000396663.1 + 2 492 c.10G>C c.(10-12)Ggg>Cgg p.G4R ARL4A_ENST00000396664.2_Missense_Mutation_p.G4R|ARL4A_ENST00000396662.1_Missense_Mutation_p.G4R|ARL4A_ENST00000404894.1_Missense_Mutation_p.G4R|ARL4A_ENST00000356797.3_Missense_Mutation_p.G4R NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 4 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding p.G4R(1) NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) AATGGGGAATGGGCTGTCAGA 0.428000 5 149 0 0 3.59834e-05 0 0 BAGE2 85319 broad.mit.edu 37 21 11039215 11039215 + RNA SNP T T G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr21:11039215T>G ENST00000470054.1 - 0 988 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTGGAGGCCTTGATTCTTCTT 0.428000 12 169 0 0 6.40141e-05 0 0 CRP 1401 broad.mit.edu 37 1 159683373 159683373 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:159683373C>G ENST00000255030.5 - 2 720 c.617G>C c.(616-618)cGg>cCg p.R206P CRP_ENST00000437342.1_Missense_Mutation_p.R28P|CRP_ENST00000368112.1_Missense_Mutation_p.R73P|CRP_ENST00000368111.1_Missense_Mutation_p.R84P|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Missense_Mutation_p.R84P|CRP_ENST00000343919.2_Missense_Mutation_p.R84P NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 206 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding p.R206P(1) breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CTTCAGTGCCCGCCAGTTCAG 0.522000 4 66 0 0 0.00024832 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368421 86368421 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:86368421G>T ENST00000400286.2 - 2 2821 c.2223C>A c.(2221-2223)aaC>aaA p.N741K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 741 integral to membrane p.N741K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CTGTTGATTGGTTCGTGGTTT 0.373000 174 282 9.06622e-77 2.75613e-75 0.000147903 1 0 IP6K2 51447 broad.mit.edu 37 3 48725827 48725827 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:48725827G>A ENST00000328631.5 - 6 1383 c.1160C>T c.(1159-1161)aCc>aTc p.T387I NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 387 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity p.T387I(2) biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CCTGCAGGTGGTGTGTGCAAA 0.552000 18 38 0 0 7.07596e-05 0 0 CNTN3 5067 broad.mit.edu 37 3 74413646 74413646 + Silent SNP A A C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:74413646A>C ENST00000263665.6 - 9 1212 c.1185T>G c.(1183-1185)gtT>gtG p.V395V NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 395 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding p.V395V(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CACTGGAATAAACAAGGCCAT 0.378000 21 43 0 0 0.000375601 0 0 ITGAL 3683 broad.mit.edu 37 16 30507469 30507469 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:30507469G>C ENST00000356798.6 + 14 1735 c.1555G>C c.(1555-1557)Ggg>Cgg p.G519R ITGAL_ENST00000358164.5_Missense_Mutation_p.G436R|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 519 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity p.G519R(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CTACCCACTCGGGCGGTTTGG 0.597000 5 236 0 0 1.23904e-05 0 0 KIAA0556 23247 broad.mit.edu 37 16 27751862 27751862 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:27751862C>G ENST00000261588.4 + 15 2263 c.2244C>G c.(2242-2244)ccC>ccG p.P748P NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 748 p.P748P(2) breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GTGAGCCACCCGGGAAAACCC 0.577000 4 58 0 0 1.23904e-05 0 0 MEGF9 1955 broad.mit.edu 37 9 123367659 123367659 + Nonsense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:123367659C>A ENST00000373930.3 - 6 1729 c.1618G>T c.(1618-1620)Gag>Tag p.E540* MEGF9_ENST00000426959.1_Nonsense_Mutation_p.E577* NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 540 integral to membrane calcium ion binding p.E577*(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 TTTTGGTACTCGCGGTACATA 0.438000 7 175 0.000274275 0.0062264 0.000274275 1 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945315 119945315 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:119945315G>C ENST00000297350.4 - 2 633 c.255C>G c.(253-255)ccC>ccG p.P85P NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 85 apoptosis|skeletal system development cytokine activity|receptor activity p.P85P(4) breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) CCTTGCACACGGGGCTGCAGT 0.562000 4 89 0 0 1.23904e-05 0 0 SPTBN4 57731 broad.mit.edu 37 19 41077931 41077931 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:41077931G>C ENST00000352632.3 + 34 7412 c.7326G>C c.(7324-7326)tgG>tgC p.W2442C SPTBN4_ENST00000598249.1_Missense_Mutation_p.W2442C|SPTBN4_ENST00000392025.1_Missense_Mutation_p.W1185C|SPTBN4_ENST00000593816.1_3'UTR Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2442 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.W2442C(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCAGGTCGTGGGTGAGCCTGT 0.562000 6 191 0 0 0.000157383 0 0 DOCK2 1794 broad.mit.edu 37 5 169127118 169127118 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:169127118G>T ENST00000256935.8 + 13 1313 c.1233G>T c.(1231-1233)ctG>ctT p.L411L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 411 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.L411L(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCAGGAAGCTGGGATTCCCAG 0.537000 8 139 0.000274275 0.0062264 0.000274275 1 0 SPEF2 79925 broad.mit.edu 37 5 35800155 35800155 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:35800155C>G ENST00000440995.2 + 34 4901 c.4901C>G c.(4900-4902)cCa>cGa p.P1634R SPEF2_ENST00000303129.4_Missense_Mutation_p.P436R|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1639R|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1639 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.P1639R(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTTGCCACCCAGACACCGTG 0.463000 8 291 0 0 0.000157383 0 0 DNAH7 56171 broad.mit.edu 37 2 196746569 196746569 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:196746569G>T ENST00000312428.6 - 36 6011 c.5911C>A c.(5911-5913)Cct>Act p.P1971T NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1971 AAA 3 (By similarity). P -> L (in dbSNP:rs2889109). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.P1971T(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATATTGAAGGCTTTTGATGG 0.373000 60 93 4.13886e-29 1.20831e-27 0.000147903 1 0 PLEKHG1 57480 broad.mit.edu 37 6 151161418 151161418 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:151161418C>G ENST00000367328.1 + 17 3856 c.3544C>G c.(3544-3546)Cag>Gag p.Q1182E PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1182E NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1182 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.Q1182E(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TCACAGGTCCCAGTCATCTTC 0.468000 6 204 0 0 3.59834e-05 0 0 TSC1 7248 broad.mit.edu 37 9 135776981 135776981 + Missense_Mutation SNP G G T rs118203700 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:135776981G>T ENST00000298552.3 - 19 2718 c.2497C>A c.(2497-2499)Caa>Aaa p.Q833K TSC1_ENST00000440111.2_Missense_Mutation_p.Q833K|TSC1_ENST00000545250.1_Missense_Mutation_p.Q782K NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 833 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.Q833K(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTTACCTTTTGGGAAACCTGA 0.458000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis OREG0019577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 244 2.17888e-05 0.000519956 0.000442599 1 0 CCDC11 220136 broad.mit.edu 37 18 47753912 47753912 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:47753912G>T ENST00000398545.4 - 8 1501 c.1384C>A c.(1384-1386)Caa>Aaa p.Q462K NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 462 p.Q462K(1) endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TCTGCTTCTTGGGACTGCTGC 0.468000 13 355 7.07596e-05 0.00166864 7.07596e-05 1 0 CATSPERG 57828 broad.mit.edu 37 19 38853033 38853033 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:38853033G>C ENST00000409235.3 + 19 2290 c.2175G>C c.(2173-2175)ttG>ttC p.L725F AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L685F NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 725 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.L365F(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ACTTCTTCTTGGCGAGCAATT 0.642000 4 61 0 0 1.23904e-05 0 0 MKI67 4288 broad.mit.edu 37 10 129906815 129906815 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:129906815G>C ENST00000368654.3 - 13 3664 c.3289C>G c.(3289-3291)Cag>Gag p.Q1097E MKI67_ENST00000368653.3_Missense_Mutation_p.Q737E NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1097 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding p.Q1097E(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCTAGTGACTGGGCCTCTTCC 0.502000 6 244 0 0 8.12818e-05 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442803 25442803 + RNA SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:25442803C>G ENST00000424208.1 + 0 1636 SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA NR_003305.1 CGCTGAGGCCCAGCCTAGGTG 0.498000 6 383 0 0 3.59834e-05 0 0 C12orf43 64897 broad.mit.edu 37 12 121442869 121442869 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:121442869G>A ENST00000445832.3 - 5 401 c.299C>T c.(298-300)cCt>cTt p.P100L C12orf43_ENST00000366211.2_Missense_Mutation_p.P88L|C12orf43_ENST00000288757.3_Missense_Mutation_p.P130L|C12orf43_ENST00000537817.1_Missense_Mutation_p.P131L|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Intron Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 130 p.P130L(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACGGCCTCCAGGGACAGAtgt 0.458000 7 14 0 0 0.000157383 0 0 POLQ 10721 broad.mit.edu 37 3 121212468 121212468 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:121212468C>A ENST00000264233.5 - 15 2507 c.2379G>T c.(2377-2379)ctG>ctT p.L793L NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 793 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity p.L928L(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CCAGGTCACACAGCTCCCTCT 0.473000 DNA polymerases (catalytic subunits) 15 20 0.000308642 0.0069839 0.000308642 1 0 BTNL9 153579 broad.mit.edu 37 5 180486691 180486691 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:180486691G>C ENST00000327705.9 + 11 1668 c.1437G>C c.(1435-1437)tcG>tcC p.S479S BTNL9_ENST00000376842.3_Silent_p.S480S NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 479 B30.2/SPRY. integral to membrane p.S479S(1) breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACACCTTCTCGGGCGCGCTCT 0.672000 3 35 0 0 6.4e-05 0 0 SOS1 6654 broad.mit.edu 37 2 39262581 39262581 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:39262581C>A ENST00000426016.1 - 8 1011 c.925G>T c.(925-927)Gat>Tat p.D309Y SOS1_ENST00000395038.2_Missense_Mutation_p.D309Y|SOS1_ENST00000402219.2_Missense_Mutation_p.D309Y|SOS1_ENST00000428721.2_Missense_Mutation_p.D252Y Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 309 DH. D -> Y (in NS4). apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.D309Y(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AGGAAACGATCATGAAAACCA 0.328000 Noonan syndrome 38 70 1.57019e-19 4.34804e-18 0.000319135 1 0 KLHL42 57542 broad.mit.edu 37 12 27933611 27933611 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:27933611C>T ENST00000381271.2 + 1 659 c.348C>T c.(346-348)tcC>tcT p.S116S RP11-860B13.1_ENST00000545904.1_RNA NM_020782.1 NP_065833.1 kelch-like family member 42 p.S116S(1) AGGTCACGTCCCTGCTGCAGC 0.677000 19 55 0 0 0.000295444 0 0 KMT2D 8085 broad.mit.edu 37 12 49445233 49445233 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:49445233G>A ENST00000301067.7 - 10 2232 c.2233C>T c.(2233-2235)Ccc>Tcc p.P745S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.P745S(1) TCAGGCCGGGGTGACAGGTGC 0.697000 12 29 0 0 0.000219431 0 0 EPG5 57724 broad.mit.edu 37 18 43459085 43459085 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:43459085C>A ENST00000282041.5 - 33 5796 c.5762G>T c.(5761-5763)aGt>aTt p.S1921I EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1921 autophagy p.S1921I(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CATATAAGGACTCCATTTTGA 0.413000 50 98 4.78724e-31 1.4064e-29 0.000147903 1 0 KPNA6 23633 broad.mit.edu 37 1 32636463 32636463 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:32636463C>T ENST00000373625.3 + 14 1672 c.1579C>T c.(1579-1581)Cct>Tct p.P527S KPNA6_ENST00000545542.1_Missense_Mutation_p.P532S|RP4-622L5.2_ENST00000515055.1_RNA|KPNA6_ENST00000537234.1_Missense_Mutation_p.P524S NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 527 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding p.P527S(1) large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CTTCCAGCAGCCTGAGGCCCC 0.582000 34 39 0 0 0.000109025 0 0 GUF1 60558 broad.mit.edu 37 4 44693769 44693769 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:44693769G>T ENST00000281543.5 + 13 1760 c.1566G>T c.(1564-1566)gtG>gtT p.V522V GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 522 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 ATGAAATTGTGGTAGATTTTT 0.313000 10 291 0.000442599 0.00988708 0.000442599 1 0 STAB1 23166 broad.mit.edu 37 3 52537484 52537484 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:52537484G>C ENST00000321725.6 + 8 895 c.819G>C c.(817-819)aaG>aaC p.K273N NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 273 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.K273N(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GTCTGCCCAAGGACCCATGCA 0.622000 3 40 0 0 6.4e-05 0 0 FLT3 2322 broad.mit.edu 37 13 28623785 28623785 + Missense_Mutation SNP T T G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:28623785T>G ENST00000380982.4 - 7 950 c.869A>C c.(868-870)aAa>aCa p.K290T FLT3_ENST00000241453.7_Missense_Mutation_p.K290T|FLT3_ENST00000537084.1_Missense_Mutation_p.K290T P36888 FLT3_HUMAN fms-related tyrosine kinase 3 290 Ig-like C2-type. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.K290T(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTCGAGTGCTTTGTTTTCTAA 0.373000 """Mis, O""" """AML, ALL""" 49 92 0 0 0.000147903 0 0 MYO18B 84700 broad.mit.edu 37 22 26164827 26164827 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr22:26164827G>T ENST00000335473.7 + 4 1194 c.944G>T c.(943-945)gGg>gTg p.G315V MYO18B_ENST00000536101.1_Missense_Mutation_p.G315V|MYO18B_ENST00000407587.2_Missense_Mutation_p.G315V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 315 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.G315V(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAAATCCCTGGGAGAAAGTGG 0.532000 4 4 1.23904e-05 0.000298223 1.23904e-05 1 0 RBM19 9904 broad.mit.edu 37 12 114395815 114395815 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:114395815C>A ENST00000545145.2 - 6 690 c.612G>T c.(610-612)gaG>gaT p.E204D RBM19_ENST00000392561.3_Missense_Mutation_p.E204D|RBM19_ENST00000261741.5_Missense_Mutation_p.E204D NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 204 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding p.E204D(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) TGTCCGACAGCTCCTTCTGCA 0.527000 43 71 7.05121e-23 1.992e-21 0.000509022 1 0 LOC150776 150776 broad.mit.edu 37 2 132277823 132277823 + RNA SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:132277823A>T ENST00000438378.2 + 0 2462 NR_026922.1 CCCCAGGCTCAGCCTGCGCTT 0.687000 7 6 0 0 0.000274275 0 0 LRP1B 53353 broad.mit.edu 37 2 141598583 141598583 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:141598583G>T ENST00000389484.3 - 30 5989 c.5018C>A c.(5017-5019)aCg>aAg p.T1673K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1673 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.T1673K(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTAATTTGCGTTTCATCAAA 0.418000 TSP Lung(27;0.18) 36 56 2.20474e-14 5.81717e-13 0.000109025 1 0 COMMD1 150684 broad.mit.edu 37 2 62132853 62132853 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:62132853G>C ENST00000311832.5 + 1 72 c.40G>C c.(40-42)Ggg>Cgg p.G14R COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.G14R NM_152516.2 NP_689729.1 Q8N668 COMD1_HUMAN copper metabolism (Murr1) domain containing 1 14 copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus copper ion binding|protein homodimerization activity p.G14R(1) large_intestine(1)|liver(2)|lung(5)|ovary(1) 9 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) ACCCCTGAGCGGGCTGCTGAA 0.682000 3 14 0 0 6.4e-05 0 0 KCNS3 3790 broad.mit.edu 37 2 18112979 18112979 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:18112979G>C ENST00000403915.1 + 3 1155 c.704G>C c.(703-705)gGg>gCg p.G235A KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.G235A Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 235 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity p.G235A(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TGGTTCACCGGGGAGCTTGCC 0.517000 5 140 0 0 1.23904e-05 0 0 KIF14 9928 broad.mit.edu 37 1 200534577 200534577 + Silent SNP A A G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:200534577A>G ENST00000367350.4 - 24 4320 c.3882T>C c.(3880-3882)gaT>gaC p.D1294D NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1294 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding p.D1294D(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 GCTTACAGTTATCTTGACTTT 0.338000 61 21 0 0 0.000147903 0 0 RYR2 6262 broad.mit.edu 37 1 237886477 237886477 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:237886477C>A ENST00000366574.2 + 74 10921 c.10604C>A c.(10603-10605)cCa>cAa p.P3535Q RYR2_ENST00000542537.1_Missense_Mutation_p.P3519Q|RYR2_ENST00000360064.6_Missense_Mutation_p.P3533Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3535 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P3533Q(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAAGACTTACCAAACAGGACT 0.398000 9 272 0.000442599 0.00988708 0.000442599 1 0 ALG8 79053 broad.mit.edu 37 11 77832145 77832145 + Silent SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:77832145T>C ENST00000376156.3 - 4 447 c.444A>G c.(442-444)ttA>ttG p.L148L ALG8_ENST00000299626.5_Silent_p.L148L|ALG8_ENST00000532552.2_Intron NM_001007027.2 NP_001007028.1 Q9BVK2 ALG8_HUMAN ALG8, alpha-1,3-glucosyltransferase 148 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity p.L148L(1) NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 30 all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;9.66e-25) TCCACAGAAGTAATACCGACA 0.323000 44 83 0 0 0.000147903 0 0 SLC1A2 6506 broad.mit.edu 37 11 35313850 35313850 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:35313850G>C ENST00000278379.3 - 7 1357 c.1075C>G c.(1075-1077)Ctg>Gtg p.L359V SLC1A2_ENST00000606205.1_Missense_Mutation_p.L359V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.L350V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.L350V NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 359 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.L359V(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) GCGGTGCCCAGGGCAGTGATC 0.468000 6 307 0 0 8.12818e-05 0 0 ELTD1 64123 broad.mit.edu 37 1 79404935 79404935 + Missense_Mutation SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:79404935T>C ENST00000370742.3 - 4 397 c.334A>G c.(334-336)Aat>Gat p.N112D NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 112 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.N112D(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CAGTTTGCATTCACATTTTCT 0.249000 6 64 0 0 0.000157383 0 0 MCMBP 79892 broad.mit.edu 37 10 121600410 121600410 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:121600410C>G ENST00000360003.3 - 11 1362 c.1193G>C c.(1192-1194)cGg>cCg p.R398P MCMBP_ENST00000369077.3_Missense_Mutation_p.R396P|MCMBP_ENST00000466047.1_5'UTR NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein 398 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding p.R398P(1) breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 GGTACTATTCCGTGGGCAACC 0.328000 4 118 0 0 1.23904e-05 0 0 AGPAT2 10555 broad.mit.edu 37 9 139571543 139571543 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:139571543C>G ENST00000371696.2 - 3 427 c.362G>C c.(361-363)cGg>cCg p.R121P AGPAT2_ENST00000538402.1_Missense_Mutation_p.R121P|AGPAT2_ENST00000371694.3_Missense_Mutation_p.R121P NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 121 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.R121P(1) endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GAGCAGCTCCCGCTTGGCGAT 0.632000 4 69 0 0 1.23904e-05 0 0 HRNR 388697 broad.mit.edu 37 1 152193333 152193333 + Missense_Mutation SNP C C G rs146460856 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:152193333C>G ENST00000368801.2 - 3 847 c.772G>C c.(772-774)Gga>Cga p.G258R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 258 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) CCGTGTTGTCCGTAGCCAGAG 0.547000 6 454 0 0 8.12818e-05 0 0 USH1C 10083 broad.mit.edu 37 11 17517142 17517142 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:17517142C>G ENST00000005226.7 - 26 2628 c.2629G>C c.(2629-2631)Ggg>Cgg p.G877R USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 AGGAGGAACCCGTGTCTGTGC 0.612000 6 162 0 0 0.000274275 0 0 ZNF621 285268 broad.mit.edu 37 3 40574363 40574363 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:40574363G>T ENST00000339296.5 + 5 1554 c.1102G>T c.(1102-1104)Gtt>Ttt p.V368F ZNF621_ENST00000403205.2_Missense_Mutation_p.V368F|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.V257F|ZNF621_ENST00000490457.1_Intron NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V368F(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) catacctcctgttcttctcca 0.527000 9 6 0.000274275 0.0062264 0.000274275 1 0 SAFB2 9667 broad.mit.edu 37 19 5621405 5621405 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:5621405C>G ENST00000252542.4 - 2 453 c.189G>C c.(187-189)gcG>gcC p.A63A NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 63 SAP. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding p.A63A(2) endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CTTCTTTAACCGCCTATTAGG 0.443000 5 119 0 0 1.23904e-05 0 0 ASXL3 80816 broad.mit.edu 37 18 31319522 31319522 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:31319522G>A ENST00000269197.5 + 11 2154 c.2154G>A c.(2152-2154)ccG>ccA p.P718P NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 718 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.P425P(1)|p.P718P(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AAACCTCACCGATGTCTGACT 0.403000 203 333 0 0 0.000147903 0 0 WWC1 23286 broad.mit.edu 37 5 167850972 167850972 + Missense_Mutation SNP C C G rs146672179 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:167850972C>G ENST00000265293.4 + 11 2211 c.1709C>G c.(1708-1710)cCg>cGg p.P570R WWC1_ENST00000521089.1_Missense_Mutation_p.P570R NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 570 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity p.P570R(1) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TTTGAAGACCCGGAGCTGAGT 0.602000 4 117 0 0 1.23904e-05 0 0 OTOGL 283310 broad.mit.edu 37 12 80672915 80672915 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:80672915A>T ENST00000458043.2 + 25 2876 c.2870A>T c.(2869-2871)tAt>tTt p.Y957F OTOGL_ENST00000547103.1_Missense_Mutation_p.Y957F NM_173591.3 NP_775862.3 otogelin-like p.Y957F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GAATATGACTATATCAGTGAT 0.363000 44 99 0 0 0.000106405 0 0 PCSK2 5126 broad.mit.edu 37 20 17437055 17437055 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:17437055C>G ENST00000262545.2 + 10 1479 c.1164C>G c.(1162-1164)ccC>ccG p.P388P PCSK2_ENST00000536609.1_Silent_p.P353P|PCSK2_ENST00000377899.1_Silent_p.P369P NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 388 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity p.P388P(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGCTGCCCCCGAGGCAGCTG 0.532000 5 185 0 0 3.59834e-05 0 0 CSMD1 64478 broad.mit.edu 37 8 3165290 3165290 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:3165290C>A ENST00000602557.1 - 26 4435 c.3880G>T c.(3880-3882)Ggc>Tgc p.G1294C CSMD1_ENST00000542608.1_Missense_Mutation_p.G1293C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1294C|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1294C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1294C|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1293C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1293C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1294 CUB 8. integral to membrane p.G1022C(1)|p.G1293C(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTGGATAGCCAGGGGACAAT 0.483000 8 160 1.12685e-05 0.000271688 0.000274275 1 0 TXNDC2 84203 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 4 59 0 0 1.23904e-05 0 0 MTMR7 9108 broad.mit.edu 37 8 17157580 17157580 + Missense_Mutation SNP G G C rs140365611 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:17157580G>C ENST00000180173.5 - 14 1808 c.1774C>G c.(1774-1776)Cgg>Ggg p.R592G VPS37A_ENST00000521162.1_3'UTR|MTMR7_ENST00000398099.3_Missense_Mutation_p.R183G NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 592 protein tyrosine phosphatase activity p.R592G(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GAAGGGCTCCGGGATGGAAAT 0.478000 4 158 0 0 8.12818e-05 0 0 BAI1 575 broad.mit.edu 37 8 143623435 143623435 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:143623435G>T ENST00000517894.1 + 28 4734 c.3840G>T c.(3838-3840)ccG>ccT p.P1280P BAI1_ENST00000323289.5_Silent_p.P1280P O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1280 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding p.P1280P(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACAGCCTGCCGGCCAACGTGT 0.662000 7 14 3.86212e-05 0.000913839 3.86212e-05 1 0 TNNC2 7125 broad.mit.edu 37 20 44453140 44453140 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:44453140C>T ENST00000372557.1 - 4 355 c.148G>A c.(148-150)Gag>Aag p.E50K TNNC2_ENST00000372555.3_Missense_Mutation_p.E65K P02585 TNNC2_HUMAN troponin C type 2 (fast) 65 EF-hand 1. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding p.E65K(1) endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) TCACCGTCCTCATCCACCTCC 0.672000 22 38 0 0 0.000375601 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684360 75684360 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:75684360C>T ENST00000370855.5 - 17 1457 c.1344G>A c.(1342-1344)ttG>ttA p.L448L SLC44A5_ENST00000535611.1_Silent_p.L318L|SLC44A5_ENST00000370859.3_Silent_p.L448L NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 448 integral to membrane|plasma membrane choline transmembrane transporter activity p.L448L(1) kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ACTGATGGTACAAGCTCTTTC 0.418000 20 12 0 0 0.000229342 0 0 PSD3 23362 broad.mit.edu 37 8 18541402 18541402 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:18541402C>G ENST00000428502.2 - 1 207 c.41G>C c.(40-42)cGg>cCg p.R14P PSD3_ENST00000523619.1_Intron|PSD3_ENST00000440756.2_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000327040.8_Intron Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 0 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) GGTCCTCACCCGTACCTTGCT 0.483000 5 171 0 0 1.23904e-05 0 0 CCDC160 347475 broad.mit.edu 37 X 133378844 133378844 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:133378844G>A ENST00000517294.1 + 3 397 c.14G>A c.(13-15)aGa>aAa p.R5K CCDC160_ENST00000370809.4_Missense_Mutation_p.R5K A6NGH7 CC160_HUMAN coiled-coil domain containing 160 5 p.R5K(1) endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1) 17 GATGCTAGAAGAAAACACTGG 0.368000 19 1 0 0 0.000132079 0 0 FBN2 2201 broad.mit.edu 37 5 127595291 127595291 + Silent SNP G G T rs137914321 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:127595291G>T ENST00000508053.1 - 71 9569 c.8595C>A c.(8593-8595)ccC>ccA p.P2865P FBN2_ENST00000262464.4_Silent_p.P2865P P35556 FBN2_HUMAN fibrillin 2 2865 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.P2865P(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGTATGTGCCGGGCATGAGCT 0.507000 73 42 8.2577e-42 2.47802e-40 0.000147903 1 0 TTN 7273 broad.mit.edu 37 2 179465757 179465757 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:179465757C>G ENST00000589042.1 - 288 56098 c.55874G>C c.(55873-55875)gGg>gCg p.G18625A TTN_ENST00000591111.1_Missense_Mutation_p.G16984A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9752A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9685A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16057A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9560A|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16984 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G16057A(2)|p.G9685A(1)|p.G9560A(1)|p.G9752A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTTTGTCCCAGTAGGGTC 0.483000 4 206 0 0 1.23904e-05 0 0 SI 6476 broad.mit.edu 37 3 164741477 164741477 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:164741477C>A ENST00000264382.3 - 26 3042 c.2980G>T c.(2980-2982)Ggt>Tgt p.G994C NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 994 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.G994C(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCTGTTATACCCATGGATGAA 0.403000 HNSCC(35;0.089) 27 46 9.04412e-07 2.22272e-05 9.22233e-05 1 0 KCTD19 146212 broad.mit.edu 37 16 67333438 67333438 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:67333438C>G ENST00000304372.5 - 6 869 c.814G>C c.(814-816)Ggg>Cgg p.G272R KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 272 voltage-gated potassium channel complex voltage-gated potassium channel activity p.G272R(1) endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GCCCCCTTCCCGGGGCTCAGG 0.637000 4 94 0 0 0.00024832 0 0 LAMB4 22798 broad.mit.edu 37 7 107708461 107708461 + Splice_Site SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:107708461G>C ENST00000388781.3 - 19 2529 c.2446_splice c.e19+1 p.P816_splice LAMB4_ENST00000388780.3_Splice_Site_p.P816_splice|LAMB4_ENST00000205386.4_Splice_Site_p.P816_splice NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 816 Laminin EGF-like 6. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGCTACGTACGGTGACAGCCG 0.527000 8 341 0 0 6.40141e-05 0 0 CCNA2 890 broad.mit.edu 37 4 122742166 122742166 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:122742166C>T ENST00000274026.5 - 3 841 c.538G>A c.(538-540)Gag>Aag p.E180K NM_001237.3 NP_001228.1 P20248 CCNA2_HUMAN cyclin A2 180 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding p.E180K(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 12 TGAATATCCTCATGGTAGTCT 0.353000 41 108 0 0 0.000125731 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464767 5464767 + Nonsense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:5464767C>T ENST00000296564.7 + 13 5542 c.5320C>T c.(5320-5322)Caa>Taa p.Q1774* NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1774 p.Q1774*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AGGGAATATTCAACTCACACG 0.493000 13 22 0 0 0.00010058 0 0 GALNT7 51809 broad.mit.edu 37 4 174223255 174223255 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:174223255G>T ENST00000265000.4 + 7 1289 c.1206G>T c.(1204-1206)ttG>ttT p.L402F NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 402 Catalytic subdomain B. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.L402F(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) TCTTTGAATTGGGTCTCTATG 0.418000 11 215 0.000308642 0.0069839 0.000308642 1 0 ANKIB1 54467 broad.mit.edu 37 7 92021572 92021572 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:92021572G>C ENST00000265742.3 + 17 2625 c.2249G>C c.(2248-2250)tGg>tCg p.W750S NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 750 protein binding|zinc ion binding p.W750S(1) cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GGTGGAACATGGGATTGGGAA 0.338000 7 470 0 0 0.000274275 0 0 TNN 63923 broad.mit.edu 37 1 175048794 175048794 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:175048794G>C ENST00000239462.4 + 3 848 c.735G>C c.(733-735)acG>acC p.T245T NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 245 EGF-like 3. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.T245T(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TCTGTGACACGGGCGAGTGCT 0.662000 3 10 0 0 6.4e-05 0 0 ATP2B4 493 broad.mit.edu 37 1 203696691 203696691 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:203696691C>G ENST00000357681.5 + 20 4424 c.3301C>G c.(3301-3303)Cag>Gag p.Q1101E ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Q1065E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Q1089E|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Q1101E|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Q1101E NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1101 Calmodulin-binding subdomain A. ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding p.Q1101E(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GAACCGTATCCAGACTCAGGT 0.572000 4 65 0 0 1.23904e-05 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365255 30365255 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:30365255C>A ENST00000305596.3 - 4 517 c.342G>T c.(340-342)caG>caT p.Q114H CD2BP2_ENST00000569466.1_Missense_Mutation_p.Q114H NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 114 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding p.Q114H(1) breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TGTCTCGGATCTGAGCATCCC 0.632000 82 29 1.30681e-28 3.80717e-27 0.000147903 1 0 ZNF705B 100132396 broad.mit.edu 37 8 7806690 7806690 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:7806690C>G ENST00000443676.1 + 3 168 c.52C>G c.(52-54)Cag>Gag p.Q18E ZNF705B_ENST00000400120.3_Missense_Mutation_p.Q18E P0CI00 Z705L_HUMAN zinc finger protein 705B 18 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.Q18E(2) kidney(2)|lung(2) 4 TGACTTCACCCAGGAAGAGTG 0.428000 74 22 0 0 0.000147903 0 0 BICC1 80114 broad.mit.edu 37 10 60549475 60549475 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:60549475G>C ENST00000373886.3 + 8 833 c.829G>C c.(829-831)Ggg>Cgg p.G277R NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 277 multicellular organismal development RNA binding p.G277R(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 ACATCTTGCTGGGAGCTTAGC 0.403000 5 247 0 0 3.59834e-05 0 0 GUSB 2990 broad.mit.edu 37 7 65426034 65426034 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:65426034C>G ENST00000304895.4 - 12 1936 c.1806G>C c.(1804-1806)ctG>ctC p.L602L GUSB_ENST00000421103.1_Silent_p.L456L|GUSB_ENST00000345660.6_Silent_p.L551L NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 602 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding p.L602L(1) breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 TTTTATTCCCCAGCACTCTCG 0.448000 6 228 0 0 3.59834e-05 0 0 LOC286059 286059 broad.mit.edu 37 8 22938829 22938829 + RNA SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:22938829G>T ENST00000501897.1 + 0 333 NR_038873.1 AGGACCAACTGGTGGGCTCCA 0.473000 11 17 3.86212e-05 0.000913839 3.86212e-05 1 0 BRINP2 57795 broad.mit.edu 37 1 177199204 177199204 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:177199204C>T ENST00000361539.4 + 2 504 c.192C>T c.(190-192)ccC>ccT p.P64P NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 64 extracellular region p.P64P(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 ACCGGGGCCCCTTCCACCGCG 0.627000 48 24 0 0 0.000147903 0 0 KIAA1024 23251 broad.mit.edu 37 15 79750551 79750551 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:79750551G>C ENST00000305428.3 + 2 2137 c.2062G>C c.(2062-2064)Ggg>Cgg p.G688R NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 688 integral to membrane p.G688R(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 TGATGCTAGCGGGAGCAACAG 0.557000 4 124 0 0 1.23904e-05 0 0 DNAH7 56171 broad.mit.edu 37 2 196912157 196912157 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:196912157C>A ENST00000312428.6 - 5 417 c.317G>T c.(316-318)gGa>gTa p.G106V DNAH7_ENST00000410072.1_Missense_Mutation_p.G106V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 106 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.G106V(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGTAGATGGTCCAACATAACT 0.323000 87 137 3.07327e-39 9.12455e-38 0.000147903 1 0 DTX4 23220 broad.mit.edu 37 11 58949675 58949675 + Silent SNP A A C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:58949675A>C ENST00000227451.3 + 2 779 c.675A>C c.(673-675)ggA>ggC p.G225G DTX4_ENST00000532982.1_Silent_p.G119G NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 225 Notch signaling pathway cytoplasm zinc ion binding p.G119G(1)|p.G225G(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) CGCCTCCTGGAGTGGTCAAGC 0.627000 13 24 0 0 0.00010058 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44016823 44016823 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:44016823G>T ENST00000398823.2 + 5 358 c.283G>T c.(283-285)Gac>Tac p.D95Y DYNC2LI1_ENST00000260605.8_Missense_Mutation_p.D95Y|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.D95Y|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D95Y Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 95 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity p.D95Y(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTCTTTATTGGACTTAATCAG 0.403000 53 93 1.02487e-32 3.02358e-31 0.000147903 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54925050 54925050 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:54925050G>C ENST00000293373.6 + 23 2592 c.2513G>C c.(2512-2514)cGg>cCg p.R838P NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788P NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 838 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity p.R838P(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CCAGAGATGCGGGCCTTGGCA 0.473000 5 235 0 0 1.23904e-05 0 0 MGAM 8972 broad.mit.edu 37 7 141800678 141800678 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:141800678G>T ENST00000475668.2 + 68 8005 c.7951G>T c.(7951-7953)Ggg>Tgg p.G2651W MGAM_ENST00000549489.2_Missense_Mutation_p.G1755W O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1755 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.G1755W(2)|p.G2652W(1) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGGGATGATGGGCAAAGCAT 0.502000 9 11 9.70103e-10 2.44872e-08 3.86212e-05 1 0 FGGY 55277 broad.mit.edu 37 1 59787238 59787238 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:59787238A>T ENST00000371218.4 + 2 201 c.17A>T c.(16-18)cAg>cTg p.Q6L FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Missense_Mutation_p.Q6L|FGGY_ENST00000303721.7_Missense_Mutation_p.Q6L NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 6 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor p.Q6L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GGTGGAGAACAGAAACCAGAG 0.493000 17 52 0 0 0.000229342 0 0 CCDC67 159989 broad.mit.edu 37 11 93118683 93118683 + Nonsense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:93118683C>A ENST00000298050.3 + 8 1009 c.909C>A c.(907-909)tgC>tgA p.C303* CCDC67_ENST00000525646.1_Nonsense_Mutation_p.C45* NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 303 p.C295*(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TAGGAGAGTGCCAAAATGCTC 0.303000 21 59 7.92952e-12 2.05345e-10 7.16444e-05 1 0 ACP1 52 broad.mit.edu 37 2 277079 277079 + Silent SNP C C G rs144534474 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:277079C>G ENST00000272067.6 + 5 489 c.393C>G c.(391-393)ccC>ccG p.P131P ACP1_ENST00000272065.5_Silent_p.P131P|ACP1_ENST00000484464.1_3'UTR NM_007099.3 NP_009030.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 131 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity p.P131P(3) endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) TTGAAGATCCCTATTATGTAA 0.323000 5 79 0 0 1.23904e-05 0 0 NDST3 9348 broad.mit.edu 37 4 119059263 119059263 + Missense_Mutation SNP G G A rs150758016 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:119059263G>A ENST00000296499.5 + 5 1682 c.1279G>A c.(1279-1281)Gtc>Atc p.V427I NDST3_ENST00000433996.2_Missense_Mutation_p.V346I NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 427 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.V427I(3) NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CCATTCGGGCGTCTACCCTGT 0.468000 31 58 0 0 0.000339439 0 0 OR52E6 390078 broad.mit.edu 37 11 5862711 5862711 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:5862711G>C ENST00000329322.5 - 1 416 c.417C>G c.(415-417)acC>acG p.T139T OR52E6_ENST00000379946.2_Silent_p.T143T|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T143T(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATTTTGCTGGTGAGGATCA 0.488000 5 231 0 0 1.23904e-05 0 0 NRF1 4899 broad.mit.edu 37 7 129348937 129348937 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:129348937C>A ENST00000393232.1 + 6 746 c.629C>A c.(628-630)cCa>cAa p.P210Q NRF1_ENST00000393230.2_Missense_Mutation_p.P210Q|NRF1_ENST00000393231.3_Missense_Mutation_p.P210Q|NRF1_ENST00000311967.2_Missense_Mutation_p.P210Q|NRF1_ENST00000539636.1_Missense_Mutation_p.P49Q|NRF1_ENST00000223190.4_Missense_Mutation_p.P210Q|NRF1_ENST00000353868.4_Missense_Mutation_p.P210Q NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 210 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding p.P210K(1) breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 GCATTTATCCCAGAGATGCTC 0.493000 14 477 0.000422831 0.0095523 0.000422831 1 0 ASTN1 460 broad.mit.edu 37 1 176918392 176918392 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:176918392C>T ENST00000367654.2 - 12 2020 c.2007G>A c.(2005-2007)gaG>gaA p.E669E ASTN1_ENST00000424564.2_Silent_p.E661E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.E661E|ASTN1_ENST00000361833.2_Silent_p.E661E O14525 ASTN1_HUMAN astrotactin 1 669 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane p.E661E(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGCACAGCTGCTCACAGCCGC 0.617000 OREG0014004 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 18 0 0 0.000159656 0 0 CTNNA2 1496 broad.mit.edu 37 2 80801386 80801386 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:80801386C>G ENST00000466387.1 + 17 2564 c.1840C>G c.(1840-1842)Cgc>Ggc p.R614G CTNNA2_ENST00000402739.4_Missense_Mutation_p.R614G|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R293G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R614G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R614G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R648G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R614G P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 614 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.R614G(1)|p.L615V(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CGATGCCTCTCGCCTGGTGTA 0.527000 5 154 0 0 3.59834e-05 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876062 74876062 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr14:74876062C>A ENST00000331628.3 - 2 633 c.386G>T c.(385-387)cGg>cTg p.R129L SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.R129L NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 129 response to biotic stimulus Golgi apparatus|integral to membrane p.R129L(1) breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 CTCCTGGTCCCGCAGCTCCTC 0.562000 7 95 0.000442599 0.00988708 0.000442599 1 0 SWI5 375757 broad.mit.edu 37 9 131039032 131039032 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:131039032C>G ENST00000320188.4 + 2 424 c.424C>G c.(424-426)Cct>Gct p.P142A NM_001040011.1 NP_001035100.1 Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) 142 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding p.P142A(1) CTTCCGATCCCCTGTGAGTAT 0.607000 52 87 0 0 0.000147903 0 0 CDH17 1015 broad.mit.edu 37 8 95183133 95183133 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:95183133C>G ENST00000027335.3 - 8 988 c.864G>C c.(862-864)caG>caC p.Q288H CDH17_ENST00000450165.2_Missense_Mutation_p.Q288H|CDH17_ENST00000441892.2_Intron NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 288 Cadherin 3. integral to membrane calcium ion binding p.Q288H(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TATCTCCTTCCTGGTCAATTG 0.468000 5 196 0 0 1.23904e-05 0 0 OR51E2 81285 broad.mit.edu 37 11 4702997 4702997 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:4702997C>A ENST00000396950.3 - 2 1184 c.945G>T c.(943-945)caG>caT p.Q315H NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q315H(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CTCCCACAGCCTGCAAGTCCT 0.438000 27 39 5.45727e-16 1.47041e-14 0.000227799 1 0 PLRG1 5356 broad.mit.edu 37 4 155468953 155468953 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:155468953G>T ENST00000499023.2 - 3 295 c.169C>A c.(169-171)Cat>Aat p.H57N PLRG1_ENST00000302078.5_Missense_Mutation_p.H57N|PLRG1_ENST00000393905.2_Missense_Mutation_p.H57N NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 57 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity p.H57N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) GTAGGCATATGCAACACAGGA 0.348000 25 52 8.24728e-16 2.21363e-14 9.22233e-05 1 0 EXOC2 55770 broad.mit.edu 37 6 486758 486758 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:486758C>G ENST00000230449.4 - 28 2823 c.2688G>C c.(2686-2688)ctG>ctC p.L896L EXOC2_ENST00000448181.3_Silent_p.L491L NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 896 exocytosis|protein transport p.L896L(2) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GGAGCTCTTCCAGTAACCTGC 0.517000 4 82 0 0 0.00024832 0 0 EZH2 2146 broad.mit.edu 37 7 148544378 148544378 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:148544378C>G ENST00000320356.2 - 2 134 c.13G>C c.(13-15)Ggg>Cgg p.G5R EZH2_ENST00000541220.1_Missense_Mutation_p.G5R|EZH2_ENST00000460911.1_Missense_Mutation_p.G5R|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000483967.1_Missense_Mutation_p.G5R|EZH2_ENST00000478654.1_Missense_Mutation_p.G5R|EZH2_ENST00000476773.1_Missense_Mutation_p.G5R|EZH2_ENST00000350995.2_Missense_Mutation_p.G5R NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 5 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.G5R(2)|p.G5W(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) GATTTCTTCCCAGTCTGGCCC 0.423000 Mis DLBCL 6 345 0 0 0.000157383 0 0 SAPCD2 89958 broad.mit.edu 37 9 139960771 139960771 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:139960771G>C ENST00000409687.3 - 2 754 c.627C>G c.(625-627)ccC>ccG p.P209P NM_178448.3 NP_848543.2 Q86UD0 CI140_HUMAN suppressor APC domain containing 2 209 cytoplasm|nucleus p.P204P(1) CTCGGGCACGGGGAGCCCGCC 0.701000 3 16 0 0 1.23904e-05 0 0 AGBL1 123624 broad.mit.edu 37 15 87066061 87066061 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:87066061G>C ENST00000441037.2 + 18 2533 c.2438G>C c.(2437-2439)gGg>gCg p.G813A AGBL1_ENST00000421325.2_Missense_Mutation_p.G813A|AGBL1_ENST00000389298.3_Missense_Mutation_p.G544A NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 813 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.G813S(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TCACTGAGCGGGGAAGATTTG 0.433000 4 96 0 0 0.00024832 0 0 FAM209A 200232 broad.mit.edu 37 20 55100931 55100931 + Silent SNP C C A rs1054347 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:55100931C>A ENST00000371328.3 + 2 644 c.321C>A c.(319-321)ccC>ccA p.P107P GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR NM_001012971.3 NP_001012989.2 family with sequence similarity 209, member A p.P107P(1) ATGCTTCCCCCAACAAAGACT 0.453000 8 126 0.000157383 0.00364379 0.000157383 1 0 DNAH9 1770 broad.mit.edu 37 17 11572723 11572723 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:11572723C>T ENST00000262442.3 + 17 3033 c.2965C>T c.(2965-2967)Cgg>Tgg p.R989W DNAH9_ENST00000454412.2_Missense_Mutation_p.R989W NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 989 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R989W(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCAAACATGCGGCGCACACT 0.557000 13 9 0 0 0.000151284 0 0 EPHB4 2050 broad.mit.edu 37 7 100411606 100411606 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:100411606C>G ENST00000358173.3 - 9 2094 c.1626G>C c.(1624-1626)gcG>gcC p.A542A EPHB4_ENST00000360620.3_Silent_p.A542A NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 542 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity p.A542A(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CTGCCGTGCCCGCAATCAGGG 0.647000 4 75 0 0 3.59834e-05 0 0 EPS15L1 58513 broad.mit.edu 37 19 16487937 16487937 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:16487937G>C ENST00000455140.2 - 22 2442 c.2376C>G c.(2374-2376)ccC>ccG p.P792P EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000248070.6_Silent_p.P792P|EPS15L1_ENST00000594975.1_Intron NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 792 15 X 3 AA repeats of D-P-F.|Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding p.P792P(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 ACTGACCGCTGGGCGGTTTAG 0.607000 OREG0025332 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 43 0 0 1.23904e-05 0 0 OXGR1 27199 broad.mit.edu 37 13 97639335 97639335 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:97639335G>C ENST00000298440.1 - 4 922 c.679C>G c.(679-681)Cat>Gat p.H227D OXGR1_ENST00000543457.1_Missense_Mutation_p.H227D NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 227 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.H227D(1) NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TGCAGTCCATGGGTCAGAGTG 0.428000 5 69 0 0 1.23904e-05 0 0 TMEM129 92305 broad.mit.edu 37 4 1719959 1719959 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:1719959C>G ENST00000382936.3 - 2 1093 c.600G>C c.(598-600)tcG>tcC p.S200S TMEM129_ENST00000536901.1_Silent_p.S200S|TMEM129_ENST00000303277.2_Silent_p.S200S NM_001127266.1 NP_001120738.1 A0AVI4 TM129_HUMAN transmembrane protein 129 200 integral to membrane p.S200S(1) lung(2) 2 OV - Ovarian serous cystadenocarcinoma(23;0.00765) TCGAGTCTGGCGAGAGCTCAT 0.607000 3 7 0 0 0.00024832 0 0 ESRRG 2104 broad.mit.edu 37 1 216824331 216824331 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:216824331C>G ENST00000391890.3 - 5 1021 c.504G>C c.(502-504)gtG>gtC p.V168V ESRRG_ENST00000493748.1_Silent_p.V168V|ESRRG_ENST00000366938.2_Silent_p.V168V|ESRRG_ENST00000366940.2_Silent_p.V168V|ESRRG_ENST00000487276.1_Silent_p.V168V|ESRRG_ENST00000361525.3_Silent_p.V168V|ESRRG_ENST00000361395.2_Silent_p.V168V|ESRRG_ENST00000408911.3_Silent_p.V191V|ESRRG_ENST00000366937.1_Silent_p.V196V|ESRRG_ENST00000359162.2_Silent_p.V168V|ESRRG_ENST00000493603.1_Silent_p.V168V|ESRRG_ENST00000360012.3_Silent_p.V168V|ESRRG_ENST00000463665.1_Intron NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 191 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.V191V(1) endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCAGCATGCCCACTTTTAAAC 0.463000 5 183 0 0 8.12818e-05 0 0 CNTN4 152330 broad.mit.edu 37 3 2928832 2928832 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:2928832G>T ENST00000397461.1 + 9 1248 c.864G>T c.(862-864)gaG>gaT p.E288D CNTN4_ENST00000418658.1_Missense_Mutation_p.E288D|CNTN4_ENST00000427331.1_Missense_Mutation_p.E288D|CNTN4_ENST00000358480.3_Missense_Mutation_p.E69D NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 288 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding p.E288D(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTCAGCAGGAGGATGCTGGTT 0.398000 26 37 5.45024e-15 1.44623e-13 0.00047179 1 0 DCHS2 54798 broad.mit.edu 37 4 155241831 155241831 + Missense_Mutation SNP G G C rs139445399 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:155241831G>C ENST00000357232.3 - 14 3354 c.3355C>G c.(3355-3357)Cgt>Ggt p.R1119G NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1119 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTGTCAAGACGGGACACAGTG 0.463000 6 255 0 0 8.12818e-05 0 0 TMEM167A 153339 broad.mit.edu 37 5 82360853 82360853 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:82360853G>C ENST00000502346.1 - 2 259 c.87C>G c.(85-87)ccC>ccG p.P29P TMEM167A_ENST00000511450.1_5'UTR NM_174909.4 NP_777569.1 Q8TBQ9 KISHA_HUMAN transmembrane protein 167A 29 Golgi membrane|integral to membrane p.P29P(1) large_intestine(1)|lung(1) 2 CCAGGAGGCTGGGTGCCAAGG 0.323000 5 122 0 0 8.12818e-05 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613442 27613442 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:27613442C>A ENST00000225388.4 - 2 1628 c.1570G>T c.(1570-1572)Ggg>Tgg p.G524W NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 524 nucleus|polysomal ribosome protein binding|RNA binding p.G524W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) GATGACTTCCCAGTAACAGTC 0.458000 6 84 8.12818e-05 0.00190393 8.12818e-05 1 0 EI24 9538 broad.mit.edu 37 11 125448101 125448101 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:125448101G>T ENST00000278903.6 + 6 631 c.389G>T c.(388-390)tGg>tTg p.W130L STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.W130L|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 130 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane p.W130L(2) large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) AGTGCTCTTTGGGTGCTCCCC 0.488000 8 160 1.12685e-05 0.000271688 0.000274275 1 0 PTER 9317 broad.mit.edu 37 10 16528530 16528530 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:16528530G>A ENST00000378000.1 + 4 858 c.612G>A c.(610-612)cgG>cgA p.R204R PTER_ENST00000298942.3_Silent_p.R204R|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000535784.2_Silent_p.R204R|PTER_ENST00000423462.2_Silent_p.R204R NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 204 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding p.R204R(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 ATCCTGGACGGAGCTCCAGGG 0.507000 45 69 0 0 0.000125731 0 0 FOCAD 54914 broad.mit.edu 37 9 20881959 20881959 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:20881959C>G ENST00000380249.1 + 22 2771 c.2407C>G c.(2407-2409)Cgc>Ggc p.R803G FOCAD_ENST00000338382.6_Missense_Mutation_p.R803G|FOCAD_ENST00000605086.1_Missense_Mutation_p.R239G NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 803 integral to membrane binding AGGAGGTGCCCGCTCAGACCA 0.413000 6 106 0 0 0.000157383 0 0 ATRIP 84126 broad.mit.edu 37 3 48502063 48502063 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:48502063C>G ENST00000412052.1 + 8 1793 c.1331C>G c.(1330-1332)cCa>cGa p.P444R ATRIP_ENST00000357105.6_Missense_Mutation_p.P410R|ATRIP_ENST00000320211.3_Missense_Mutation_p.P537R|ATRIP_ENST00000346691.4_Missense_Mutation_p.P537R NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 537 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity p.P537R(1) central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGACAGCACCCACTGTTGAAG 0.522000 Other conserved DNA damage response genes 4 72 0 0 0.00024832 0 0 NXF2B 728343 broad.mit.edu 37 X 101623759 101623759 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:101623759C>A ENST00000457521.2 - 19 2474 c.603G>T c.(601-603)gcG>gcT p.A201A NXF2B_ENST00000372749.1_Silent_p.A201A|NXF2B_ENST00000412230.2_Silent_p.A201A|NXF2B_ENST00000372750.1_Silent_p.A201A|NXF2B_ENST00000372752.1_Silent_p.A113A nuclear RNA export factor 2B p.A201A(1) breast(1)|kidney(1)|lung(4)|ovary(1) 7 CAGAGTAGGGCGCAGTAGAAT 0.488000 19 37 1.61863e-15 4.33618e-14 0.000147903 1 0 NOD2 64127 broad.mit.edu 37 16 50733803 50733803 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:50733803G>A ENST00000300589.2 + 2 583 c.478G>A c.(478-480)Ggt>Agt p.G160S NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 160 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding p.G160S(1) cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) ATGGGAGCGGGGTTTCGTCAG 0.587000 14 33 0 0 5.01169e-05 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112658 148112658 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:148112658C>T ENST00000361727.3 + 24 4462 c.3946C>T c.(3946-3948)Ccc>Tcc p.P1316S CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P375S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1316 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.P1316S(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GAACAACGACCCCAACTTCAC 0.547000 HNSCC(39;0.1) 32 64 0 0 0.000191422 0 0 GRIP2 80852 broad.mit.edu 37 3 14555810 14555810 + RNA SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:14555810G>C ENST00000273083.3 - 0 1547 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CTCTCAGCCGGACTGTCAGGC 0.632000 3 7 0 0 6.4e-05 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460085 107460085 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:107460085C>G ENST00000409382.3 - 2 959 c.349G>C c.(349-351)Ggg>Cgg p.G117R ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G117R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G117R NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 117 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.G117R(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GATTTTCTCCCCACCTGGGAT 0.532000 5 129 0 0 3.59834e-05 0 0 SEMA3C 10512 broad.mit.edu 37 7 80387660 80387660 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:80387660G>T ENST00000265361.3 - 15 2191 c.1630C>A c.(1630-1632)Cca>Aca p.P544T SEMA3C_ENST00000419255.2_Missense_Mutation_p.P544T|SEMA3C_ENST00000544525.1_Missense_Mutation_p.P562T NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 544 immune response|response to drug membrane receptor activity p.P544T(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TTCCCAGTTGGGTAGAATCTG 0.502000 36 55 9.62906e-15 2.55024e-13 0.000228196 1 0 ABCE1 6059 broad.mit.edu 37 4 146044398 146044398 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:146044398G>C ENST00000296577.4 + 15 1921 c.1406G>C c.(1405-1407)cGa>cCa p.R469P OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 469 ABC transporter 2. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity p.R469P(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) GAACTACAGCGAGTAGCTTTA 0.378000 4 99 0 0 1.23904e-05 0 0 CCDC15 80071 broad.mit.edu 37 11 124857163 124857163 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:124857163G>C ENST00000529051.1 + 8 1300 c.1041G>C c.(1039-1041)caG>caC p.Q347H CCDC15_ENST00000344762.5_Missense_Mutation_p.Q347H Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 347 centrosome p.Q347H(2) central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) TGGAAACCCAGGGTGATTTGA 0.473000 6 180 0 0 3.59834e-05 0 0 PSD 5662 broad.mit.edu 37 10 104171930 104171930 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:104171930C>G ENST00000020673.5 - 7 2329 c.1803G>C c.(1801-1803)acG>acC p.T601T PSD_ENST00000406432.1_Silent_p.T601T NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 601 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GAGTCATGCCCGTGAAGACAA 0.582000 5 156 0 0 8.12818e-05 0 0 FER1L6 654463 broad.mit.edu 37 8 125022894 125022894 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:125022894G>T ENST00000522917.1 + 14 1967 c.1761G>T c.(1759-1761)tgG>tgT p.W587C FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.W587C NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 587 integral to membrane p.W587C(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCAGCTCTTGGGGAGACCAGA 0.458000 10 242 0.00010058 0.0023481 0.00010058 1 0 CRYGB 1419 broad.mit.edu 37 2 209010521 209010521 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:209010521G>A ENST00000260988.4 - 2 276 c.229C>T c.(229-231)Cgc>Tgc p.R77C NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 77 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens p.R77C(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) CAGCAGGAGCGGATGGAGTCG 0.502000 5 102 0 0 3.59834e-05 0 0 PCCB 5096 broad.mit.edu 37 3 135974715 135974715 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:135974715G>T ENST00000471595.1 + 2 219 c.201G>T c.(199-201)agG>agT p.R67S PCCB_ENST00000466072.1_Missense_Mutation_p.R67S|PCCB_ENST00000490504.1_Missense_Mutation_p.R67S|PCCB_ENST00000483687.1_Missense_Mutation_p.R67S|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000462637.1_Missense_Mutation_p.R67S|PCCB_ENST00000468777.1_Missense_Mutation_p.R67S|PCCB_ENST00000478469.1_Missense_Mutation_p.R67S|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000251654.4_Missense_Mutation_p.R67S|PCCB_ENST00000469217.1_Missense_Mutation_p.R67S P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 67 Carboxyltransferase. R -> S (in PA-2). fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity p.R67S(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) TAACAGCCAGGGAGAGGATCA 0.463000 49 60 7.05377e-20 1.96103e-18 0.000147903 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 112 0 0 0.00024832 0 0 CENPC 1060 broad.mit.edu 37 4 68380143 68380143 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:68380143G>C ENST00000273853.6 - 8 1343 c.1093C>G c.(1093-1095)Cat>Gat p.H365D NM_001812.2 NP_001803.2 centromere protein C p.H365D(1) TGAGGTTTATGGGAATGTTTG 0.383000 5 60 0 0 1.23904e-05 0 0 PPT1 5538 broad.mit.edu 37 1 40562846 40562846 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:40562846C>G ENST00000433473.3 - 1 529 c.65G>C c.(64-66)cGg>cCg p.R22P PPT1_ENST00000449045.2_Missense_Mutation_p.R22P NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 22 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity p.R22P(1) endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGCAGCGCCCGAGAAGCGCA 0.632000 4 163 0 0 0.00024832 0 0 EYA4 2070 broad.mit.edu 37 6 133789885 133789885 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:133789885C>A ENST00000531901.1 + 11 1215 c.986C>A c.(985-987)cCa>cAa p.P329Q EYA4_ENST00000355167.3_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000431403.2_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000430974.2_Missense_Mutation_p.P275Q|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355286.6_Intron O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 323 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GATCTTCACCCAGGTGAAATA 0.423000 9 111 0.000274275 0.0062264 0.000274275 1 0 OR8H2 390151 broad.mit.edu 37 11 55872561 55872561 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:55872561C>A ENST00000313503.1 + 1 43 c.43C>A c.(43-45)Ctt>Att p.L15I NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L15I(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TGACTTCATCCTTATGGGACT 0.433000 HNSCC(53;0.14) 76 117 9.37156e-40 2.80025e-38 0.000147903 1 0 ZDBF2 57683 broad.mit.edu 37 2 207169659 207169659 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:207169659C>T ENST00000374423.3 + 5 793 c.407C>T c.(406-408)tCa>tTa p.S136L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 136 nucleic acid binding|zinc ion binding p.S136L(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GTTCGACCATCAGTTATTCAA 0.448000 7 25 0 0 0.000274275 0 0 FOXP2 93986 broad.mit.edu 37 7 114304371 114304371 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:114304371G>T ENST00000408937.3 + 17 2332 c.1958G>T c.(1957-1959)gGa>gTa p.G653V FOXP2_ENST00000393494.2_Missense_Mutation_p.G628V|FOXP2_ENST00000403559.4_Missense_Mutation_p.G645V|FOXP2_ENST00000350908.4_Missense_Mutation_p.G628V|FOXP2_ENST00000393491.3_Missense_Mutation_p.G443V|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.G607V|FOXP2_ENST00000393489.3_Missense_Mutation_p.G536V NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 628 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|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|zinc ion binding p.G653V(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 AGTAATCCTGGACTGATAAAT 0.423000 27 43 1.13719e-10 2.90722e-09 0.000227799 1 0 HYDIN 54768 broad.mit.edu 37 16 70954583 70954583 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:70954583C>A ENST00000393567.2 - 46 7846 c.7696G>T c.(7696-7698)Gta>Tta p.V2566L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2566 p.V2565L(1)|p.V2517L(1)|p.V196L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGGAAGGGTACGCCCAGGtcc 0.612000 10 22 2.17888e-05 0.000519956 0.000442599 1 0 PKN2 5586 broad.mit.edu 37 1 89273449 89273449 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:89273449A>T ENST00000370521.3 + 15 2452 c.2093A>T c.(2092-2094)gAa>gTa p.E698V PKN2_ENST00000370513.5_Missense_Mutation_p.E650V|PKN2_ENST00000544045.1_Missense_Mutation_p.E372V|PKN2_ENST00000370505.3_Missense_Mutation_p.E541V NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 698 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity p.E698V(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GCTCGAGATGAAGTAGACAGG 0.259000 71 60 0 0 0.000147903 0 0 DCLK1 9201 broad.mit.edu 37 13 36445427 36445427 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:36445427G>C ENST00000255448.4 - 5 1085 c.874C>G c.(874-876)Cgc>Ggc p.R292G DCLK1_ENST00000379892.4_Missense_Mutation_p.R292G|DCLK1_ENST00000360631.3_Missense_Mutation_p.R292G NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 292 Pro/Ser-rich. R -> H (in dbSNP:rs56185003). cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTGCTCCTGCGGGATGATGAA 0.507000 6 192 0 0 8.12818e-05 0 0 KCNC1 3746 broad.mit.edu 37 11 17793440 17793440 + Missense_Mutation SNP T T G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:17793440T>G ENST00000379472.3 + 2 829 c.799T>G c.(799-801)Tgc>Ggc p.C267G KCNC1_ENST00000265969.6_Missense_Mutation_p.C267G NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 267 voltage-gated potassium channel complex voltage-gated potassium channel activity p.C267G(2) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGTCATCTTCTGCCCCAACAA 0.572000 62 103 0 0 0.000147903 0 0 USP28 57646 broad.mit.edu 37 11 113711322 113711322 + Nonsense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:113711322G>A ENST00000003302.4 - 5 600 c.532C>T c.(532-534)Cag>Tag p.Q178* USP28_ENST00000537706.1_Nonsense_Mutation_p.Q178*|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q178*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q53*|USP28_ENST00000542033.1_5'UTR NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 178 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.Q178*(1) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TATCATACCTGAATAACAGCA 0.353000 30 57 0 0 0.000491102 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103027385 103027385 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:103027385A>T ENST00000375735.2 + 26 4157 c.4013A>T c.(4012-4014)tAc>tTc p.Y1338F DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Y1338F NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1338 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTAGATGAATACCTGCAGAAT 0.368000 17 32 0 0 0.000422831 0 0 CLDN25 644672 broad.mit.edu 37 11 113651086 113651086 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:113651086G>T ENST00000453129.2 + 1 618 c.569G>T c.(568-570)gGa>gTa p.G190V NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 190 integral to membrane|tight junction structural molecule activity p.G190V(1) large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 GCCTGCCTGGGAAAAGAAGAT 0.557000 30 44 5.52252e-06 0.000133842 0.000339439 1 0 CDCP1 64866 broad.mit.edu 37 3 45127529 45127529 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:45127529C>G ENST00000296129.1 - 9 2246 c.2112G>C c.(2110-2112)gtG>gtC p.V704V NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 704 extracellular region|integral to membrane|plasma membrane p.V704V(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TGTAGATACCCACAGCGGGGC 0.448000 7 293 0 0 8.12818e-05 0 0 LPAL2 80350 broad.mit.edu 37 6 160908401 160908401 + RNA SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:160908401C>G ENST00000335388.5 - 0 571 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CTTTGGGATCCGTTGTATAAC 0.502000 4 63 0 0 1.23904e-05 0 0 RFT1 91869 broad.mit.edu 37 3 53145850 53145850 + Silent SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:53145850T>C ENST00000296292.3 - 7 832 c.771A>G c.(769-771)acA>acG p.T257T RFT1_ENST00000394738.3_Silent_p.T218T NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 257 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity p.T257T(1) NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) ACTTACCTTCTGTCAAAATCT 0.423000 4 138 0 0 0.00024832 0 0 PEA15 8682 broad.mit.edu 37 1 160182980 160182980 + Missense_Mutation SNP C C G rs11552719 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:160182980C>G ENST00000368076.1 + 5 664 c.316C>G c.(316-318)Cgt>Ggt p.R106G PEA15_ENST00000360472.4_Missense_Mutation_p.R85G|PEA15_ENST00000368077.1_Missense_Mutation_p.R63G|PEA15_ENST00000488858.1_3'UTR Q15121 PEA15_HUMAN phosphoprotein enriched in astrocytes 15 85 Microtubule-binding (Potential). anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import cytoplasm|microtubule associated complex protein binding p.R85S(1)|p.R85G(1) large_intestine(1)|lung(4) 5 all_cancers(52;3.11e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTACAGAACCCGTGTGCTGAA 0.517000 4 152 0 0 0.00024832 0 0 GPR55 9290 broad.mit.edu 37 2 231775219 231775219 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:231775219G>T ENST00000392040.1 - 2 651 c.459C>A c.(457-459)agC>agA p.S153R GPR55_ENST00000392039.2_Missense_Mutation_p.S153R NM_005683.3 NP_005674.2 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 153 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity p.S153R(1) endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) AGATAGGGATGCTTCCGGTCC 0.547000 32 56 1.06801e-11 2.76064e-10 0.000279167 1 0 IL1A 3552 broad.mit.edu 37 2 113539268 113539268 + Missense_Mutation SNP C C G rs138861340 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:113539268C>G ENST00000263339.3 - 4 387 c.232G>C c.(232-234)Ggg>Cgg p.G78R NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 78 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding p.G78R(1) breast(2)|large_intestine(1)|lung(9) 12 AGAACCTTCCCGTTGGTTGCT 0.478000 5 201 0 0 1.23904e-05 0 0 FSIP2 401024 broad.mit.edu 37 2 186670278 186670278 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:186670278C>A ENST00000343098.5 + 17 16512 c.16512C>A c.(16510-16512)atC>atA p.I5504I FSIP2_ENST00000424728.1_Silent_p.I5415I NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.I113I(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CAGATAATATCACCCAAAGGG 0.378000 26 60 1.42536e-11 3.67752e-10 9.22233e-05 1 0 CRIPAK 285464 broad.mit.edu 37 4 1389294 1389294 + Missense_Mutation SNP G G T rs71299249 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:1389294G>T ENST00000324803.4 + 1 3955 c.995G>T c.(994-996)tGc>tTc p.C332F NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 332 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.C332F(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGCCCGCCTGCTCACACACA 0.672000 118 169 2.51586e-40 7.53358e-39 0.000147903 1 0 ZNF521 25925 broad.mit.edu 37 18 22805988 22805988 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:22805988C>G ENST00000361524.3 - 4 2042 c.1894G>C c.(1894-1896)Gga>Cga p.G632R ZNF521_ENST00000584787.1_Missense_Mutation_p.G412R|ZNF521_ENST00000538137.2_Missense_Mutation_p.G632R NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 632 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.G632R(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ATATATTCTCCAGTGGGACGT 0.473000 T PAX5 ALL 7 558 0 0 0.000442599 0 0 GPR12 2835 broad.mit.edu 37 13 27333871 27333871 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:27333871G>C ENST00000405846.3 - 2 315 c.94C>G c.(94-96)Cgg>Ggg p.R32G GPR12_ENST00000381436.2_Missense_Mutation_p.R32G NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 32 integral to plasma membrane p.R32G(1) endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) GCAGGAACCCGGGAGGAGACA 0.532000 4 82 0 0 1.23904e-05 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821843 5821843 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:5821843C>A ENST00000381095.3 - 5 1503 c.876G>T c.(874-876)caG>caT p.Q292H NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q292H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q312H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q292H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q292H NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 292 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.Q292H(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ACTTGGCCGGCTGGTAGTTCA 0.542000 39 9 1.00001e-27 2.89526e-26 0.000437636 1 0 KIAA1958 158405 broad.mit.edu 37 9 115337393 115337393 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:115337393C>A ENST00000337530.6 + 2 1329 c.1033C>A c.(1033-1035)Cat>Aat p.H345N KIAA1958_ENST00000374244.3_Missense_Mutation_p.H345N|KIAA1958_ENST00000536272.1_Missense_Mutation_p.H345N NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 345 p.H345N(1) endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GTTCCTGTCCCATCTGCCCAG 0.567000 9 119 0.000274275 0.0062264 0.000274275 1 0 KHDRBS3 10656 broad.mit.edu 37 8 136561009 136561009 + Silent SNP A A C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:136561009A>C ENST00000355849.5 + 4 747 c.337A>C c.(337-339)Agg>Cgg p.R113R KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 113 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding p.R113R(1) NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) AGAAGAGTTGAGGAAAAGTGG 0.358000 13 23 0 0 0.000308642 0 0 TRPS1 7227 broad.mit.edu 37 8 116631852 116631852 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:116631852C>G ENST00000395715.3 - 3 1050 c.473G>C c.(472-474)gGg>gCg p.G158A TRPS1_ENST00000220888.5_Missense_Mutation_p.G145A|TRPS1_ENST00000520276.1_Missense_Mutation_p.G149A|TRPS1_ENST00000519674.1_Missense_Mutation_p.G145A|TRPS1_ENST00000519076.1_Missense_Mutation_p.G99A NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 145 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G158A(1)|p.G145A(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CAGTGAGTCCCCTGAGGGGGT 0.537000 Langer-Giedion syndrome 4 96 0 0 0.00024832 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513930 50513930 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:50513930C>A ENST00000419119.1 - 2 2609 c.1056G>T c.(1054-1056)caG>caT p.Q352H FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q352H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q352H|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q352H Q6PIW4 FIGL1_HUMAN fidgetin-like 1 352 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity p.Q352H(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TTCCTCCATTCTGCTCTCCCC 0.468000 44 74 5.20006e-24 1.48403e-22 0.000106405 1 0 ACSM5 54988 broad.mit.edu 37 16 20429419 20429419 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:20429419C>G ENST00000331849.4 + 3 390 c.243C>G c.(241-243)gtC>gtG p.V81V ACSM5_ENST00000575584.1_Silent_p.V81V NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 81 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding p.V81V(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TCTGGTGGGTCAATGGCACAG 0.532000 12 16 0 0 0.00010058 0 0 LCK 3932 broad.mit.edu 37 1 32745271 32745271 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:32745271G>C ENST00000333070.4 + 10 1154 c.1054G>C c.(1054-1056)Ggg>Cgg p.G352R LCK_ENST00000373564.3_Splice_Site|LCK_ENST00000336890.5_Splice_Site NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 322 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding p.?(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) TCTGCCCACAGGGAGTCTAGT 0.562000 T TRB@ T-ALL 5 207 0 0 1.23904e-05 0 0 ASMT 438 broad.mit.edu 37 X 1748724 1748724 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:1748724G>C ENST00000381241.3 + 5 653 c.454G>C c.(454-456)Gag>Cag p.E152Q ASMT_ENST00000381229.4_Missense_Mutation_p.E152Q|ASMT_ENST00000381233.3_Missense_Mutation_p.E152Q|RP13-297E16.3_ENST00000509780.1_RNA NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 152 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity p.E152Q(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 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) GTCCGAGGGCGAGCGGCTACA 0.572000 4 270 0 0 1.23904e-05 0 0 KCND3 3752 broad.mit.edu 37 1 112524907 112524907 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:112524907T>A ENST00000369697.1 - 1 511 c.442A>T c.(442-444)Atg>Ttg p.M148L KCND3_ENST00000315987.2_Missense_Mutation_p.M148L|KCND3_ENST00000302127.4_Missense_Mutation_p.M148L Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 148 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding p.M148L(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TTGTCGTCCATGAGCCGCTCG 0.632000 9 16 0 0 0.000274275 0 0 NEK5 341676 broad.mit.edu 37 13 52676385 52676385 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:52676385T>A ENST00000355568.4 - 10 792 c.653A>T c.(652-654)cAa>cTa p.Q218L NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 218 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.Q218L(1)|p.Q275L(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AAAATGTGCTTGACAAATCTT 0.408000 85 159 0 0 0.000147903 0 0 TNN 63923 broad.mit.edu 37 1 175092647 175092647 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:175092647C>T ENST00000239462.4 + 12 2875 c.2762C>T c.(2761-2763)tCt>tTt p.S921F NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 921 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.S921F(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CGCTACACCTCTGCTGACGGA 0.592000 65 22 0 0 0.000147903 0 0 SLC44A1 23446 broad.mit.edu 37 9 108120644 108120644 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:108120644G>T ENST00000374720.3 + 7 937 c.690G>T c.(688-690)atG>atT p.M230I SLC44A1_ENST00000343170.7_Missense_Mutation_p.M22I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.M230I|SLC44A1_ENST00000374723.1_Missense_Mutation_p.M230I NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 230 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity p.M230I(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) TGATTTTGATGGTGATAATCA 0.323000 59 90 6.70656e-16 1.80355e-14 0.000147903 1 0 TSHZ2 128553 broad.mit.edu 37 20 51872086 51872086 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:51872086G>A ENST00000371497.5 + 2 2976 c.2089G>A c.(2089-2091)Gcc>Acc p.A697T TSHZ2_ENST00000603338.2_Missense_Mutation_p.A694T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A694T NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 697 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A697T(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCCACTCAGCGCCCTGCAGTC 0.612000 23 23 0 0 0.000375601 0 0 DCDC1 341019 broad.mit.edu 37 11 31086079 31086079 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:31086079C>G ENST00000597505.1 - 18 2527 c.2528G>C c.(2527-2529)gGg>gCg p.G843A DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction p.G462A(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGTCAGCTCCCCCGTCTCCTC 0.488000 5 204 0 0 1.23904e-05 0 0 IRS1 3667 broad.mit.edu 37 2 227663340 227663340 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:227663340C>G ENST00000305123.4 - 1 1135 c.115G>C c.(115-117)Ggg>Cgg p.G39R NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 39 Mediates interaction with PHIP (By similarity).|PH. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity p.G39R(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GCCGGGCCCCCAGCCTCGCTG 0.632000 4 70 0 0 0.00024832 0 0 RREB1 6239 broad.mit.edu 37 6 7231086 7231086 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:7231086C>A ENST00000379938.2 + 10 3291 c.2754C>A c.(2752-2754)tcC>tcA p.S918S RREB1_ENST00000349384.6_Silent_p.S918S|RREB1_ENST00000334984.6_Silent_p.S918S|RREB1_ENST00000379933.3_Silent_p.S918S NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 918 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding p.S918S(2) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AAAACATCTCCTTTCTGAGCC 0.567000 32 29 3.76114e-14 9.90503e-13 0.000132358 1 0 TRIML2 205860 broad.mit.edu 37 4 189012726 189012726 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:189012726A>T ENST00000512729.1 - 7 1339 c.965T>A c.(964-966)gTt>gAt p.V322D TRIML2_ENST00000326754.3_Missense_Mutation_p.V347D NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 322 B30.2/SPRY. ligase activity p.V322D(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GTCAAGGAAAACGCCAACTGT 0.527000 68 140 0 0 0.000147903 0 0 ABCD3 5825 broad.mit.edu 37 1 94933551 94933551 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:94933551C>T ENST00000370214.4 + 4 347 c.323C>T c.(322-324)aCa>aTa p.T108I ABCD3_ENST00000315713.5_Missense_Mutation_p.T108I|ABCD3_ENST00000454898.2_Missense_Mutation_p.T132I|ABCD3_ENST00000536817.1_Missense_Mutation_p.T35I|ABCD3_ENST00000394233.2_Missense_Mutation_p.T108I NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 108 ABC transmembrane type-1.|Interaction with PEX19.|Targeting to peroxisomes. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.T108I(2) breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) CAAAATGGGACACTAATTGAA 0.313000 18 108 0 0 0.000229342 0 0 PAX8 7849 broad.mit.edu 37 2 114002024 114002024 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:114002024G>C ENST00000429538.3 - 4 563 c.369C>G c.(367-369)ccC>ccG p.P123P AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000348715.5_Silent_p.P123P|PAX8_ENST00000397647.3_Silent_p.P123P|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263335.7_Silent_p.P123P|PAX8_ENST00000263334.5_Silent_p.P123P|AC016683.6_ENST00000445745.1_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 123 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity p.P123P(1) PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 AGCTGACACTGGGCACAGTGT 0.552000 T PPARG follicular thyroid Thyroid dysgenesis 7 149 0 0 0.000157383 0 0 DOPEY1 23033 broad.mit.edu 37 6 83838812 83838812 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:83838812C>G ENST00000349129.2 + 16 2186 c.1926C>G c.(1924-1926)tcC>tcG p.S642S DOPEY1_ENST00000369739.3_Silent_p.S633S|DOPEY1_ENST00000237163.5_Silent_p.S623S NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 642 protein transport p.S642S(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAACAGCATCCACTGTGGGAT 0.522000 4 102 0 0 0.00024832 0 0 MEP1A 4224 broad.mit.edu 37 6 46801138 46801138 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:46801138G>C ENST00000230588.4 + 11 1481 c.1472G>C c.(1471-1473)gGg>gCg p.G491A NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 491 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.G491A(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GTGTGCAGTGGGGAGAACGAT 0.473000 4 145 0 0 0.00024832 0 0 IKBKAP 8518 broad.mit.edu 37 9 111693348 111693348 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:111693348G>C ENST00000374647.5 - 2 386 c.79C>G c.(79-81)Cga>Gga p.R27G IKBKAP_ENST00000537196.1_Intron NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 27 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity p.R27G(1) NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGTTCAGTTCGGAGAGAGAAG 0.473000 4 115 0 0 0.00024832 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90121919 90121919 + RNA SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:90121919G>C ENST00000483379.1 + 0 318 ATCACTTGTCGGGCGAGGCAG 0.488000 7 272 0 0 0.000274275 0 0 NCOA3 8202 broad.mit.edu 37 20 46265153 46265153 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:46265153G>T ENST00000372004.3 + 12 2239 c.2023G>T c.(2023-2025)Ggg>Tgg p.G675W NCOA3_ENST00000371998.3_Missense_Mutation_p.G675W|NCOA3_ENST00000371997.3_Missense_Mutation_p.G685W|NCOA3_ENST00000341724.6_Missense_Mutation_p.G685W NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 675 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.G675W(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CAATATGCATGGGTCACTGTT 0.473000 9 120 0.000442599 0.00988708 0.000442599 1 0 SLC5A4 6527 broad.mit.edu 37 22 32650194 32650194 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr22:32650194G>T ENST00000266086.4 - 2 153 c.142C>A c.(142-144)Ctg>Atg p.L48M RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 48 carbohydrate transport|sodium ion transport integral to membrane symporter activity p.L48M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTGGTCTTCAGCATCGCCTGA 0.567000 33 15 1.90571e-15 5.09549e-14 0.000132358 1 0 MPZL3 196264 broad.mit.edu 37 11 118106197 118106197 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:118106197C>G ENST00000278949.4 - 4 614 c.559G>C c.(559-561)Ggg>Cgg p.G187R MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.G175R Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 187 cell adhesion integral to membrane p.G187R(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTCTTCAGCCCAGCAGCCTTC 0.552000 5 232 0 0 3.59834e-05 0 0 SSX2IP 117178 broad.mit.edu 37 1 85124125 85124125 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:85124125G>A ENST00000437941.2 - 8 1225 c.873C>T c.(871-873)gcC>gcT p.A291A SSX2IP_ENST00000342203.3_Silent_p.A318A|SSX2IP_ENST00000370612.4_Silent_p.A318A|SSX2IP_ENST00000605755.1_Silent_p.A291A|SSX2IP_ENST00000603677.1_Intron NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 318 cell adhesion nucleus|protein complex p.A318A(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTAGTTCCCCGGCATCTTCTT 0.443000 22 14 0 0 0.000229342 0 0 UVRAG 7405 broad.mit.edu 37 11 75727941 75727941 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:75727941C>G ENST00000356136.3 + 12 1384 c.1143C>G c.(1141-1143)ccC>ccG p.P381P UVRAG_ENST00000531818.1_Silent_p.P9P|UVRAG_ENST00000528420.1_Silent_p.P280P|UVRAG_ENST00000539288.1_Silent_p.P9P|UVRAG_ENST00000532130.1_Silent_p.P9P|UVRAG_ENST00000533454.1_Silent_p.P9P NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 381 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding p.P381P(1) central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TACAAGTGCCCCTCAGATATC 0.383000 4 140 0 0 0.00024832 0 0 KIAA1109 84162 broad.mit.edu 37 4 123264572 123264572 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:123264572G>T ENST00000264501.4 + 73 12733 c.12360G>T c.(12358-12360)tcG>tcT p.S4120S KIAA1109_ENST00000388738.3_Silent_p.S4120S Q2LD37 K1109_HUMAN KIAA1109 4120 Ser-rich. regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.S4120S(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TAGGTTCATCGGGATTAGGCA 0.433000 5 86 8.12818e-05 0.00190393 8.12818e-05 1 0 SIMC1 375484 broad.mit.edu 37 5 175717588 175717588 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:175717588G>C ENST00000443967.1 + 4 1411 c.1004G>C c.(1003-1005)gGg>gCg p.G335A SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.G354A SUMO-interacting motifs containing 1 p.G335A(1) CACTCATCAGGGGACGTGACA 0.522000 5 125 0 0 1.23904e-05 0 0 ERMN 57471 broad.mit.edu 37 2 158182141 158182141 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:158182141G>C ENST00000410096.1 - 1 305 c.14C>G c.(13-15)cCg>cGg p.P5R ERMN_ENST00000420719.2_Missense_Mutation_p.P5R|ERMN_ENST00000397283.2_Missense_Mutation_p.P18R|ERMN_ENST00000409216.1_Missense_Mutation_p.P5R|ERMN_ENST00000409925.1_Missense_Mutation_p.P5R NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 5 cytoplasm|cytoskeleton p.P18R(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 AAATGTAGCCGGAACATCTGT 0.448000 4 156 0 0 1.23904e-05 0 0 KCNG2 26251 broad.mit.edu 37 18 77659266 77659266 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:77659266G>A ENST00000316249.3 + 2 851 c.851G>A c.(850-852)gGg>gAg p.G284E KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 284 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.G284E(1) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GAGCGCGCGGGGCTGGTGCTG 0.716000 5 5 0 0 8.12818e-05 0 0 CDH13 1012 broad.mit.edu 37 16 83781757 83781757 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:83781757C>G ENST00000566620.1 + 11 1873 c.1583C>G c.(1582-1584)cCc>cGc p.P528R CDH13_ENST00000268613.10_Missense_Mutation_p.P575R|RP11-298D21.1_ENST00000570056.1_RNA|RP11-298D21.1_ENST00000563981.1_RNA|CDH13_ENST00000428848.3_Missense_Mutation_p.P489R|RP11-298D21.1_ENST00000569165.1_RNA NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 528 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding p.P528R(1) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AATATTAACCCCATCAATGGG 0.463000 5 213 0 0 3.59834e-05 0 0 FLG2 388698 broad.mit.edu 37 1 152323752 152323752 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:152323752G>C ENST00000388718.5 - 3 6582 c.6510C>G c.(6508-6510)tcC>tcG p.S2170S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2170 calcium ion binding|structural molecule activity p.S2170S(1) 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) CAGTTGTCCTGGAACCTGTCT 0.512000 7 292 0 0 8.12818e-05 0 0 MPL 4352 broad.mit.edu 37 1 43812251 43812251 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:43812251G>C ENST00000372470.3 + 7 1158 c.1116G>C c.(1114-1116)ccG>ccC p.P372P MPL_ENST00000413998.2_Silent_p.P372P NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 372 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCACAGCCCCGGGTACTGTTC 0.512000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 5 174 0 0 1.23904e-05 0 0 DOCK10 55619 broad.mit.edu 37 2 225659777 225659777 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:225659777G>T ENST00000409592.3 - 45 5068 c.4955C>A c.(4954-4956)aCt>aAt p.T1652N DOCK10_ENST00000258390.7_Missense_Mutation_p.T1658N Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1658 DHR-2. GTP binding p.T196N(1)|p.T1656N(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TATACGCTTAGTCAGGTCCTT 0.468000 65 102 8.07507e-42 2.42843e-40 0.000147903 1 0 DHX37 57647 broad.mit.edu 37 12 125444911 125444911 + Missense_Mutation SNP G G C rs114212811 by1000genomes TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:125444911G>C ENST00000308736.2 - 16 2202 c.2104C>G c.(2104-2106)Cgg>Ggg p.R702G DHX37_ENST00000544745.1_Missense_Mutation_p.R489G NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 702 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) ACAGGCCTCCGGGTGATTTCT 0.527000 5 134 0 0 0.000157383 0 0 DPYS 1807 broad.mit.edu 37 8 105441832 105441832 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:105441832C>G ENST00000351513.2 - 5 1023 c.891G>C c.(889-891)atG>atC p.M297I NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 297 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.M297I(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAGGTGGACCCATGACATGGT 0.502000 4 70 0 0 0.00024832 0 0 PRRX1 5396 broad.mit.edu 37 1 170705230 170705230 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:170705230C>G ENST00000239461.6 + 4 954 c.641C>G c.(640-642)cCt>cGt p.P214R PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 214 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.P214R(1) large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AACAATAGCCCTGCACAGGGC 0.493000 6 266 0 0 3.59834e-05 0 0 TIE1 7075 broad.mit.edu 37 1 43778157 43778157 + Silent SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:43778157T>A ENST00000372476.3 + 12 1891 c.1812T>A c.(1810-1812)acT>acA p.T604T TIE1_ENST00000433781.2_Silent_p.T249T NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 604 Fibronectin type-III 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.T604T(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGCCCGCACTGCCCTCCTGA 0.716000 9 19 0 0 0.000274275 0 0 PRDM15 63977 broad.mit.edu 37 21 43222983 43222983 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr21:43222983C>G ENST00000422911.1 - 24 3104 c.3003G>C c.(3001-3003)gcG>gcC p.A1001A PRDM15_ENST00000269844.3_Silent_p.A1310A|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Silent_p.A944A|PRDM15_ENST00000398548.1_Silent_p.A981A|PRDM15_ENST00000538201.1_Silent_p.A964A P57071 PRD15_HUMAN PR domain containing 15 1310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A1310A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CCGGAGCACCCGCCTCCTCTT 0.577000 4 157 0 0 8.12818e-05 0 0 PGK2 5232 broad.mit.edu 37 6 49753693 49753693 + Missense_Mutation SNP A A G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:49753693A>G ENST00000304801.3 - 1 1360 c.1208T>C c.(1207-1209)cTg>cCg p.L403P NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 403 glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.L403P(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TTTACCTTCCAGAAGCTCTAG 0.473000 61 72 0 0 0.000147903 0 0 MYLK 4638 broad.mit.edu 37 3 123452795 123452795 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:123452795C>A ENST00000360772.3 - 11 1426 c.1048G>T c.(1048-1050)Gca>Tca p.A350S MYLK_ENST00000360304.3_Missense_Mutation_p.A350S|MYLK_ENST00000475616.1_Missense_Mutation_p.A350S|MYLK_ENST00000346322.5_Missense_Mutation_p.A350S|MYLK_ENST00000359169.1_Missense_Mutation_p.A350S Q15746 MYLK_HUMAN myosin light chain kinase 350 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.A350T(1)|p.A350P(1)|p.A350S(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAACTCTTGCGGCCTGCAGG 0.632000 39 76 7.53189e-24 2.14513e-22 0.000319135 1 0 MED15 51586 broad.mit.edu 37 22 20921087 20921087 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr22:20921087C>A ENST00000263205.7 + 7 1093 c.1024C>A c.(1024-1026)Caa>Aaa p.Q342K MED15_ENST00000541476.1_Missense_Mutation_p.Q316K|MED15_ENST00000292733.7_Missense_Mutation_p.Q342K|MED15_ENST00000406969.1_Missense_Mutation_p.Q316K|MED15_ENST00000425759.2_Missense_Mutation_p.Q231K|MED15_ENST00000542773.1_Missense_Mutation_p.Q147K|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.Q271K NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 342 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q342K(2) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GTTGTATACCCAACCACCACT 0.537000 6 52 8.12818e-05 0.00190393 8.12818e-05 1 0 IL24 11009 broad.mit.edu 37 1 207074963 207074963 + Missense_Mutation SNP A A C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:207074963A>C ENST00000294984.2 + 5 702 c.428A>C c.(427-429)aAc>aCc p.N143T IL24_ENST00000367093.3_Intron|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.N144T NM_001185156.1|NM_006850.3 NP_001172085.1|NP_006841.1 Q13007 IL24_HUMAN interleukin 24 143 apoptosis extracellular space cytokine activity p.N143T(1) endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) CTGGCCAACAACTTTGTTCTC 0.463000 4 50 0 0 0.00024832 0 0 FYB 2533 broad.mit.edu 37 5 39202308 39202308 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:39202308C>G ENST00000351578.6 - 2 945 c.755G>C c.(754-756)gGg>gCg p.G252A FYB_ENST00000505428.1_Missense_Mutation_p.G252A|FYB_ENST00000512982.1_Missense_Mutation_p.G252A|FYB_ENST00000515010.1_Missense_Mutation_p.G252A|FYB_ENST00000540520.1_Missense_Mutation_p.G262A NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 252 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding p.G252A(3)|p.G262A(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGAAATCTCCCCTGCATGGTC 0.498000 6 347 0 0 8.12818e-05 0 0 SPRY3 10251 broad.mit.edu 37 X 155003545 155003545 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:155003545G>C ENST00000302805.2 + 2 443 c.12G>C c.(10-12)gcG>gcC p.A4A NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 4 multicellular organismal development|regulation of signal transduction cytoplasm|membrane p.A4A(1) all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGATGCTGCGGTGACAGATG 0.458000 4 225 0 0 0.00024832 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960674 73960674 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:73960674C>A ENST00000373468.1 - 3 4369 c.3718G>T c.(3718-3720)Ggc>Tgc p.G1240C KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1240C Q5QGS0 K2022_HUMAN KIAA2022 1240 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.G1240F(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CGGCCAATGCCAATTTGCATT 0.493000 23 8 2.21704e-12 5.77337e-11 0.000375601 1 0 EIF2B2 8892 broad.mit.edu 37 14 75475847 75475847 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr14:75475847C>G ENST00000266126.5 + 8 1092 c.1012C>G c.(1012-1014)Cgc>Ggc p.R338G NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 338 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) CTACATCTACCGCCTGATGAG 0.483000 5 142 0 0 1.23904e-05 0 0 HIVEP3 59269 broad.mit.edu 37 1 41979091 41979091 + Missense_Mutation SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:41979091T>C ENST00000372584.1 - 7 6815 c.5801A>G c.(5800-5802)cAg>cGg p.Q1934R HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.Q1934R|HIVEP3_ENST00000372583.1_Missense_Mutation_p.Q1934R|HIVEP3_ENST00000247584.5_Missense_Mutation_p.Q1934R NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1934 Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.Q1934R(1) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CGGCATGCTCTGGCTGGACAT 0.662000 11 7 0 0 6.40141e-05 0 0 FZD10 11211 broad.mit.edu 37 12 130647907 130647907 + Nonsense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:130647907G>T ENST00000539839.1 + 1 904 c.322G>T c.(322-324)Gaa>Taa p.E108* FZD10_ENST00000229030.4_Missense_Mutation_p.K140N NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.K140N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCCCCAACAAGAACGACCCCA 0.662000 34 71 8.01111e-26 2.30036e-24 0.000509022 1 0 ITPR2 3709 broad.mit.edu 37 12 26568412 26568412 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:26568412C>G ENST00000381340.3 - 51 7546 c.7130G>C c.(7129-7131)aGg>aCg p.R2377T RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2377 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.R2377T(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGTCTCTTCCCTGTACACCAA 0.368000 4 125 0 0 1.23904e-05 0 0 HGF 3082 broad.mit.edu 37 7 81372699 81372699 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:81372699G>C ENST00000222390.5 - 7 1061 c.835C>G c.(835-837)Cgc>Ggc p.R279G HGF_ENST00000457544.2_Missense_Mutation_p.R274G|HGF_ENST00000453411.1_Missense_Mutation_p.R274G|HGF_ENST00000444829.2_Missense_Mutation_p.R279G NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 279 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.R279G(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TACTCCCAGCGGGTGTGAGGG 0.473000 34 41 0 0 0.000109025 0 0 MAGT1 84061 broad.mit.edu 37 X 77150820 77150820 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:77150820G>C ENST00000358075.6 - 1 270 c.184C>G c.(184-186)Caa>Gaa p.Q62E MAGT1_ENST00000373336.3_Missense_Mutation_p.Q30E NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 30 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.Q30E(1) cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 TTCTTTCTTTGGGCAGAGGCT 0.582000 3 28 0 0 6.4e-05 0 0 NPAP1 23742 broad.mit.edu 37 15 24921131 24921131 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:24921131C>A ENST00000329468.2 + 1 591 c.117C>A c.(115-117)caC>caA p.H39Q NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.H39Q(1) GTCGGGCTCACTCTGTACCCA 0.736000 12 19 1.61879e-10 4.13087e-09 0.00010058 1 0 OR11A1 26531 broad.mit.edu 37 6 29395095 29395095 + Silent SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:29395095T>A ENST00000377149.1 - 5 796 c.324A>T c.(322-324)ctA>ctT p.L108L OR11A1_ENST00000377148.1_Silent_p.L108L|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.L108L Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L108L(1) cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 CAGCTGTGGCTAGAGAGCCGA 0.537000 25 26 0 0 0.00047179 0 0 ASTN2 23245 broad.mit.edu 37 9 119770371 119770371 + Splice_Site SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:119770371C>A ENST00000313400.4 - 7 1691 c.1591_splice c.e7+1 p.G531_splice ASTN2_ENST00000361209.2_Splice_Site_p.G480_splice|ASTN2_ENST00000373996.3_Splice_Site_p.G531_splice|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 531 EGF-like 1. integral to membrane p.G480R(1)|p.G480*(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CATGGCTCACCGGTTTCTGGG 0.557000 16 31 1.67942e-08 4.21633e-07 7.07596e-05 1 0 IL12RB2 3595 broad.mit.edu 37 1 67852300 67852300 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:67852300T>A ENST00000262345.1 + 14 2534 c.1894T>A c.(1894-1896)Tgc>Agc p.C632S IL12RB2_ENST00000541374.1_Missense_Mutation_p.C632S|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_Missense_Mutation_p.C632S|IL12RB2_ENST00000544434.1_Missense_Mutation_p.C546S NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 632 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity p.C632S(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 ACCAAGCATTTGCATTGCTAT 0.403000 56 36 0 0 0.000147903 0 0 MEX3A 92312 broad.mit.edu 37 1 156047009 156047009 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:156047009C>G ENST00000532414.2 - 2 918 c.919G>C c.(919-921)Ggg>Cgg p.G307R MEX3A_ENST00000442784.1_5'UTR NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 307 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding p.G426R(1)|p.G307R(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) TCGGGGCTCCCCGCCAGGAAG 0.657000 4 106 0 0 1.23904e-05 0 0 GOLGA3 2802 broad.mit.edu 37 12 133358952 133358952 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:133358952C>G ENST00000204726.3 - 17 3953 c.3395G>C c.(3394-3396)cGg>cCg p.R1132P GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1132P|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1132P NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1132 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity p.R1132P(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GTTGTGTTCCCGCAGAGCTGC 0.502000 5 216 0 0 3.59834e-05 0 0 KIF5C 3800 broad.mit.edu 37 2 149799276 149799276 + Splice_Site SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:149799276T>A ENST00000435030.1 + 7 957 c.e7+2 KIF5C_ENST00000414838.2_Splice_Site O60282 KIF5C_HUMAN kinesin family member 5C microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CTGTGACAAGTAAGCATGGTG 0.527000 8 5 0 0 0.000157383 0 0 DCC 1630 broad.mit.edu 37 18 50734144 50734144 + Silent SNP G G C rs143737066 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:50734144G>C ENST00000442544.2 + 11 2434 c.1818G>C c.(1816-1818)ccG>ccC p.P606P DCC_ENST00000581580.1_Silent_p.P261P|DCC_ENST00000412726.1_Silent_p.P454P NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 606 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.P606P(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCTATGGTCCGGGCGTCTCTA 0.353000 5 158 0 0 8.12818e-05 0 0 SSTR4 6754 broad.mit.edu 37 20 23016973 23016973 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:23016973G>A ENST00000255008.3 + 1 917 c.853G>A c.(853-855)Gtg>Atg p.V285M RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 285 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.V285M(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GAACCTCTTCGTGACCAGCCT 0.552000 51 87 0 0 0.000147903 0 0 DHX38 9785 broad.mit.edu 37 16 72142724 72142724 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:72142724G>T ENST00000268482.3 + 24 3790 c.3281G>T c.(3280-3282)cGc>cTc p.R1094L DHX38_ENST00000536867.1_Missense_Mutation_p.R406L NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1094 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R1094L(1) endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GTGAACATCCGCACAGGGATG 0.547000 10 24 1.58986e-06 3.88683e-05 3.86212e-05 1 0 NDN 4692 broad.mit.edu 37 15 23931903 23931903 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:23931903G>A ENST00000331837.4 - 1 547 c.462C>T c.(460-462)caC>caT p.H154H NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 154 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.H154H(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TTAGCCTCAGGTGCAGCCCGA 0.617000 Prader-Willi syndrome 27 30 0 0 9.22233e-05 0 0 SLC40A1 30061 broad.mit.edu 37 2 190439933 190439933 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:190439933C>G ENST00000261024.2 - 3 651 c.225G>C c.(223-225)ctG>ctC p.L75L SLC40A1_ENST00000418714.1_5'UTR NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 75 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding p.L75L(1) endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) TGATGGCTCCCAGGACCAGAA 0.498000 6 273 0 0 3.59834e-05 0 0 SCN9A 6335 broad.mit.edu 37 2 167056049 167056049 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:167056049C>G ENST00000303354.6 - 27 5443 c.5103G>C c.(5101-5103)tgG>tgC p.W1701C SCN9A_ENST00000375387.4_Missense_Mutation_p.W1701C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.W1700C|SCN9A_ENST00000409672.1_Missense_Mutation_p.W1689C Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1700 voltage-gated sodium channel complex voltage-gated sodium channel activity p.W1689C(1) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GCAATCCATCCCAGCCAGCAG 0.418000 6 292 0 0 3.59834e-05 0 0 MYO1A 4640 broad.mit.edu 37 12 57440845 57440845 + Splice_Site SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:57440845A>T ENST00000442789.2 - 7 764 c.477_splice c.e7+1 p.F159_splice MYO1A_ENST00000300119.3_Splice_Site_p.F159_splice|MYO1A_ENST00000544473.1_Intron NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 159 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.F159L(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 ATTTACTCACAAATCGGGAGG 0.522000 15 29 0 0 5.01169e-05 0 0 LGALS9 3965 broad.mit.edu 37 17 25969281 25969281 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:25969281C>A ENST00000395473.2 + 4 1819 c.351C>A c.(349-351)atC>atA p.I117I LGALS9_ENST00000313648.6_Silent_p.I117I|LGALS9_ENST00000413914.2_Silent_p.I60I|LGALS9_ENST00000310394.5_Silent_p.I117I|LGALS9_ENST00000302228.5_Silent_p.I117I NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 117 Galectin 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity p.I117I(1) endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) TGAACGGGATCCTCTTCGTGC 0.597000 17 10 4.43304e-23 1.25744e-21 0.000147802 1 0 SYT14 255928 broad.mit.edu 37 1 210273728 210273728 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:210273728G>A ENST00000537238.1 + 7 1363 c.972G>A c.(970-972)aaG>aaA p.K324K SYT14_ENST00000534859.1_Silent_p.K362K|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000367015.1_Silent_p.K324K|SYT14_ENST00000367019.1_Silent_p.K362K|SYT14_ENST00000422431.1_Silent_p.K407K|SYT14_ENST00000472886.1_Silent_p.K362K|SYT14_ENST00000399639.2_Silent_p.K362K NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 362 C2 1. integral to membrane p.K362K(1) endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TGGGGGAAAAGATTTTTTATT 0.333000 80 21 0 0 0.000147903 0 0 TMTC1 83857 broad.mit.edu 37 12 29911698 29911698 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:29911698C>T ENST00000256062.5 - 3 642 c.169G>A c.(169-171)Gtt>Att p.V57I TMTC1_ENST00000539277.1_Missense_Mutation_p.V165I|TMTC1_ENST00000381224.2_Missense_Mutation_p.V57I|TMTC1_ENST00000551659.1_Missense_Mutation_p.V165I|TMTC1_ENST00000552618.1_Missense_Mutation_p.V165I NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 165 integral to membrane binding p.V57I(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GCTCTGCCAACGATCCCAGCC 0.393000 17 28 0 0 0.000175454 0 0 C4orf21 55345 broad.mit.edu 37 4 113479457 113479457 + Nonsense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:113479457C>A ENST00000505019.1 - 20 5094 c.4969G>T c.(4969-4971)Gga>Tga p.G1657* NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 p.G1657*(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTTCCTGCTCCAAACACACCT 0.343000 6 64 2.0095e-06 4.90416e-05 8.12818e-05 1 0 WDR64 128025 broad.mit.edu 37 1 241946679 241946679 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:241946679G>C ENST00000366552.2 + 22 2878 c.2671G>C c.(2671-2673)Gta>Cta p.V891L WDR64_ENST00000437684.2_Missense_Mutation_p.V724L NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 891 p.V891L(1)|p.V444L(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CGATGGCTCAGTAAGGTAGGC 0.393000 3 32 0 0 6.4e-05 0 0 MAP3K11 4296 broad.mit.edu 37 11 65380732 65380732 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:65380732G>C ENST00000309100.3 - 1 981 c.496C>G c.(496-498)Cgg>Ggg p.R166G NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 166 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity p.R166G(1) breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GCGAAGAGCCGGGCCTCCTGG 0.647000 3 59 0 0 6.4e-05 0 0 FRY 10129 broad.mit.edu 37 13 32721512 32721512 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:32721512G>T ENST00000380250.3 + 12 1769 c.1273G>T c.(1273-1275)Gct>Tct p.A425S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane p.A425S(1) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AAGCAACACAGCTACTCAGAG 0.398000 10 21 7.48243e-07 1.84215e-05 0.000442599 1 0 CARNS1 57571 broad.mit.edu 37 11 67191717 67191717 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:67191717A>T ENST00000445895.2 + 9 2612 c.2498A>T c.(2497-2499)gAc>gTc p.D833V CARNS1_ENST00000531040.1_Missense_Mutation_p.D807V|CARNS1_ENST00000423745.2_Missense_Mutation_p.D710V|CARNS1_ENST00000307823.3_Missense_Mutation_p.D710V A5YM72 CRNS1_HUMAN carnosine synthase 1 710 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding p.D833V(1)|p.D268V(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7) 11 TATGGTGTTGACCTGCTGCTG 0.632000 18 21 0 0 0.000229342 0 0 MGRN1 23295 broad.mit.edu 37 16 4700385 4700385 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:4700385C>G ENST00000399577.5 + 2 201 c.108C>G c.(106-108)caC>caG p.H36Q MGRN1_ENST00000588994.1_Missense_Mutation_p.H36Q|MGRN1_ENST00000415496.1_Missense_Mutation_p.H36Q|MGRN1_ENST00000586183.1_Missense_Mutation_p.H36Q|MGRN1_ENST00000262370.7_Missense_Mutation_p.H36Q NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 36 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.H36Q(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 TTGCTTCGCACTTTTTCATGG 0.458000 44 21 0 0 0.000147903 0 0 SCAMP2 10066 broad.mit.edu 37 15 75137815 75137815 + Splice_Site SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:75137815C>G ENST00000268099.9 - 8 963 c.855_splice c.e8+1 p.R285_splice NM_005697.3 NP_005688.2 O15127 SCAM2_HUMAN secretory carrier membrane protein 2 285 post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding p.R285P(1) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 ACCACTCACCCGCTGCAGGAG 0.562000 4 69 0 0 1.23904e-05 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27827104 27827104 + Nonsense_Mutation SNP T T A rs141015886 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:27827104T>A ENST00000396319.2 + 8 1008 c.920T>A c.(919-921)tTa>tAa p.L307* TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.L307*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.L307*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.L150*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.L307* NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 307 L -> I (in dbSNP:rs11540483). anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding p.L307*(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) TTAAAAAATTTAGATGGGAAC 0.348000 57 70 0 0 0.000147903 0 0 FLG2 388698 broad.mit.edu 37 1 152329769 152329769 + Nonsense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:152329769G>A ENST00000388718.5 - 3 565 c.493C>T c.(493-495)Caa>Taa p.Q165* FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 165 Ser-rich. calcium ion binding|structural molecule activity p.Q165*(1) 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) AAATTACCTTGTCTTCCTAGC 0.493000 204 54 0 0 0.000147903 0 0 ASMTL 8623 broad.mit.edu 37 X 1546691 1546691 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:1546691C>G ENST00000534940.1 - 7 884 c.659G>C c.(658-660)cGg>cCg p.R220P ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381317.3_Missense_Mutation_p.R278P|ASMTL_ENST00000381333.4_Missense_Mutation_p.R262P|ASMTL_ENST00000416733.2_Missense_Mutation_p.R202P NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 278 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity p.R278P(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 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) CAGGGTCTCCCGAGTCCTGTG 0.637000 7 134 0 0 8.12818e-05 0 0 GRM7 2917 broad.mit.edu 37 3 7620495 7620495 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:7620495G>T ENST00000486284.1 + 8 2176 c.1902G>T c.(1900-1902)acG>acT p.T634T GRM7_ENST00000402647.2_Silent_p.T634T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.T634T|GRM7_ENST00000389336.4_Silent_p.T634T|GRM7_ENST00000357716.4_Silent_p.T634T NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 634 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.T634T(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTCTTTTGACGGGCATCTTTC 0.498000 8 235 0.000157383 0.00364379 0.000157383 1 0 POLR1A 25885 broad.mit.edu 37 2 86266540 86266540 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:86266540G>C ENST00000263857.6 - 26 4164 c.3786C>G c.(3784-3786)ccC>ccG p.P1262P POLR1A_ENST00000409681.1_Silent_p.P1262P O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1262 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.P1262P(1) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CGCTCATCATGGGTGTCTTGA 0.532000 6 281 0 0 3.59834e-05 0 0 POSTN 10631 broad.mit.edu 37 13 38153365 38153365 + Splice_Site SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:38153365C>G ENST00000379747.4 - 13 1909 c.e13+1 POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding p.?(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AGACAACTTACTTCTTTCAGA 0.318000 43 44 0 0 0.000125731 0 0 POLE 5426 broad.mit.edu 37 12 133220441 133220441 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:133220441C>A ENST00000320574.5 - 33 4315 c.4272G>T c.(4270-4272)gaG>gaT p.E1424D POLE_ENST00000535270.1_Missense_Mutation_p.E1397D NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1424 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding p.E1424D(2) NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CATATACGCCCTCGATGTCTG 0.557000 DNA polymerases (catalytic subunits) 19 17 5.3912e-06 0.000131114 7.07596e-05 1 0 PDIA3 2923 broad.mit.edu 37 15 44061820 44061820 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:44061820C>G ENST00000300289.5 + 10 1390 c.1242C>G c.(1240-1242)ccC>ccG p.P414P PDIA3_ENST00000538521.1_Silent_p.P394P NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 414 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.P414P(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) ACCTGGAGCCCAAGTATAAAG 0.388000 5 124 0 0 1.23904e-05 0 0 NCR1 9437 broad.mit.edu 37 19 55420752 55420752 + Nonsense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:55420752C>A ENST00000594765.1 + 4 529 c.504C>A c.(502-504)taC>taA p.Y168* NCR1_ENST00000447255.1_Nonsense_Mutation_p.Y168*|NCR1_ENST00000338835.5_Nonsense_Mutation_p.Y168*|NCR1_ENST00000291890.4_Nonsense_Mutation_p.Y168*|NCR1_ENST00000357397.5_Nonsense_Mutation_p.Y61*|NCR1_ENST00000598576.1_Nonsense_Mutation_p.Y156*|NCR1_ENST00000350790.5_Nonsense_Mutation_p.Y73* O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 168 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity p.Y168*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) AGCGCGGATACGGGAAGGTCC 0.567000 18 22 4.96729e-08 1.23599e-06 0.000132079 1 0 SLC4A8 9498 broad.mit.edu 37 12 51888800 51888800 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:51888800G>C ENST00000453097.2 + 21 3058 c.2841G>C c.(2839-2841)gtG>gtC p.V947V SLC4A8_ENST00000358657.3_Silent_p.V974V NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 947 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity p.V947V(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TGCGGCATGTGCCGCTGCGCA 0.507000 39 70 0 0 0.000270559 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92669306 92669306 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:92669306C>G ENST00000318445.6 + 6 1404 c.1190C>G c.(1189-1191)cCg>cGg p.P397R SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P397R NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 397 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity p.P397R(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) ACTGCGATCCCGTGTGCTTGT 0.602000 3 48 0 0 3.59834e-05 0 0 IFFO1 25900 broad.mit.edu 37 12 6650692 6650692 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:6650692G>C ENST00000436152.2 - 10 1210 c.651C>G c.(649-651)acC>acG p.T217T IFFO1_ENST00000465801.1_Silent_p.T216T|IFFO1_ENST00000356896.4_Silent_p.T524T|IFFO1_ENST00000396840.2_Silent_p.T520T|IFFO1_ENST00000336604.4_Silent_p.T523T Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 520 intermediate filament p.T520T(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 CTCCAGACTGGGTGATGAGCC 0.637000 18 27 0 0 9.7654e-05 0 0 USP34 9736 broad.mit.edu 37 2 61456684 61456684 + Splice_Site SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:61456684C>G ENST00000398571.2 - 59 7274 c.7199_splice c.e59+1 p.G2400_splice NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2400 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.G2400R(1) autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ACTTCTTACCCATCTTCCATT 0.348000 6 340 0 0 8.12818e-05 0 0 SCN8A 6334 broad.mit.edu 37 12 52159702 52159702 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:52159702G>T ENST00000354534.5 + 16 2970 c.2792G>T c.(2791-2793)cGa>cTa p.R931L SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L|SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 931 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity p.R931L(2)|p.R931Q(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATTGTCTTTCGAGTGTTGTGC 0.498000 8 282 0.000442599 0.00988708 0.000442599 1 0 DCAF12 25853 broad.mit.edu 37 9 34098434 34098434 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:34098434C>G ENST00000361264.4 - 5 1024 c.683G>C c.(682-684)cGg>cCg p.R228P NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 228 centrosome|CUL4 RING ubiquitin ligase complex p.R228P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 CACAGGGACCCGTGACACATT 0.517000 4 85 0 0 1.23904e-05 0 0 AVIL 10677 broad.mit.edu 37 12 58191674 58191674 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:58191674C>G ENST00000537081.1 - 19 2429 c.2430G>C c.(2428-2430)ggG>ggC p.G810G TSFM_ENST00000550559.1_Intron|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000543727.1_Intron|AVIL_ENST00000257861.3_Silent_p.G817G O75366 AVIL_HUMAN advillin 817 HP.|Headpiece (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding p.G817G(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) TTTAGAAAAGCCCCTTTTCTT 0.443000 22 64 0 0 0.000229342 0 0 GRHPR 9380 broad.mit.edu 37 9 37436696 37436696 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:37436696C>G ENST00000318158.6 + 9 989 c.904C>G c.(904-906)Cgc>Ggc p.R302G NM_012203.1 NP_036335.1 Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 302 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding p.R302G(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) CCACAGAACCCGCAACACCAT 0.552000 4 148 0 0 0.00024832 0 0 HOGA1 112817 broad.mit.edu 37 10 99371273 99371273 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:99371273C>G ENST00000370646.4 + 7 1202 c.841C>G c.(841-843)Cgg>Ggg p.R281G PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Missense_Mutation_p.R118G NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 p.R281G(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 GCAGGTGACCCGGCGCTTTGG 0.552000 4 106 0 0 3.59834e-05 0 0 MAST2 23139 broad.mit.edu 37 1 46487708 46487708 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:46487708C>G ENST00000361297.2 + 12 1660 c.1377C>G c.(1375-1377)ccC>ccG p.P459P MAST2_ENST00000372008.1_Silent_p.P344P|MAST2_ENST00000372009.2_Silent_p.P389P NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 459 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity p.R460S(1) breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GTGACATTCCCCGCTACATCG 0.562000 4 101 0 0 0.00024832 0 0 DCAF8 50717 broad.mit.edu 37 1 160201110 160201110 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:160201110C>G ENST00000368073.3 - 7 1481 c.1047G>C c.(1045-1047)gtG>gtC p.V349V DCAF8_ENST00000556710.1_Silent_p.V503V|DCAF8_ENST00000326837.2_Silent_p.V349V|DCAF8_ENST00000368074.1_Silent_p.V349V|DCAF8_ENST00000461888.1_5'UTR Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 349 CUL4 RING ubiquitin ligase complex protein binding p.V503V(1)|p.V349V(1) cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 CTCGTCCACCCACTGCAAACT 0.433000 5 189 0 0 3.59834e-05 0 0 DPH2 1802 broad.mit.edu 37 1 44437603 44437603 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:44437603G>C ENST00000255108.3 + 4 1201 c.1029G>C c.(1027-1029)ctG>ctC p.L343L DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Silent_p.L208L NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 343 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm p.L343L(1) autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CCTGTCCTCTGGGTGCTCTAG 0.607000 5 149 0 0 8.12818e-05 0 0 GP2 2813 broad.mit.edu 37 16 20329730 20329730 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:20329730C>G ENST00000302555.5 - 7 1179 c.1030G>C c.(1030-1032)Ggg>Cgg p.G344R GP2_ENST00000381360.5_Missense_Mutation_p.G200R|GP2_ENST00000381362.4_Missense_Mutation_p.G347R|GP2_ENST00000341642.5_Missense_Mutation_p.G197R|GP2_ENST00000573897.1_5'UTR P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 347 ZP. anchored to membrane|extracellular region|plasma membrane p.G344R(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TCTCCATTCCCGTCCACACTG 0.468000 4 112 0 0 3.59834e-05 0 0 CFTR 1080 broad.mit.edu 37 7 117267710 117267710 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:117267710T>A ENST00000003084.6 + 22 3735 c.3603T>A c.(3601-3603)gaT>gaA p.D1201E CFTR_ENST00000454343.1_Missense_Mutation_p.D1140E|AC000111.6_ENST00000456270.1_RNA NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1201 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding p.D1201E(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGAAGAAAGATGACATCTGGC 0.408000 Cystic Fibrosis 22 41 0 0 0.000375601 0 0 TTN 7273 broad.mit.edu 37 2 179407625 179407625 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:179407625G>C ENST00000589042.1 - 348 97180 c.96956C>G c.(96955-96957)cCa>cGa p.P32319R TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P30678R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23446R|TTN_ENST00000359218.5_Missense_Mutation_p.P23379R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29751R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23254R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30678 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P29751R(1)|p.P23446R(1)|p.P29749R(1)|p.P23379R(1)|p.P23254R(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGCCAGCTGGGACATGGAT 0.453000 6 397 0 0 8.12818e-05 0 0 DCAF8 50717 broad.mit.edu 37 1 160188115 160188115 + Splice_Site SNP C C G rs142007100 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:160188115C>G ENST00000368073.3 - 13 2110 c.1677_splice c.e13+1 p.R559_splice DCAF8_ENST00000556710.1_Splice_Site_p.R713_splice|DCAF8_ENST00000326837.2_Splice_Site_p.R559_splice|DCAF8_ENST00000368074.1_Splice_Site_p.R559_splice|DCAF8_ENST00000461888.1_5'UTR Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 559 CUL4 RING ubiquitin ligase complex protein binding p.R713L(1)|p.R559L(1) cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 CTAGCTTACCCGGTGATGGCG 0.478000 5 270 0 0 3.59834e-05 0 0 TARSL2 123283 broad.mit.edu 37 15 102264433 102264433 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:102264433T>A ENST00000335968.3 - 1 374 c.158A>T c.(157-159)gAg>gTg p.E53V NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 53 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity p.E53V(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTGCGCCACCTCCCGCGTGAG 0.736000 5 4 0 0 1.23904e-05 0 0 C7orf63 79846 broad.mit.edu 37 7 89929315 89929315 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:89929315G>T ENST00000389297.4 + 17 2243 c.1992G>T c.(1990-1992)ttG>ttT p.L664F C7orf63_ENST00000316089.8_Missense_Mutation_p.L664F|C7orf63_ENST00000497910.1_Missense_Mutation_p.L646F NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 664 binding p.L664F(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TAATTAAATTGTGGAGAAAGG 0.338000 31 33 2.85442e-18 7.8267e-17 0.000339439 1 0 GRID1 2894 broad.mit.edu 37 10 87614258 87614258 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:87614258G>T ENST00000327946.7 - 8 1313 c.1228C>A c.(1228-1230)Cgc>Agc p.R410S NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 410 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.R410S(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTTACCTTGCGCATGTCTTTG 0.512000 Multiple Myeloma(13;0.14) 25 42 1.32181e-22 3.72665e-21 0.000184323 1 0 ZNF831 128611 broad.mit.edu 37 20 57766592 57766592 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:57766592C>G ENST00000371030.2 + 1 518 c.518C>G c.(517-519)cCg>cGg p.P173R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 173 intracellular nucleic acid binding|zinc ion binding p.P173R(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGGCCCTTCCCGTGTGCCACC 0.607000 4 112 0 0 3.59834e-05 0 0 OR5J2 282775 broad.mit.edu 37 11 55944491 55944491 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:55944491C>A ENST00000312298.1 + 1 398 c.398C>A c.(397-399)aCt>aAt p.T133N NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T133N(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TTGCTTTACACTGTAGCCATG 0.458000 42 63 6.57855e-14 1.72597e-12 0.000437636 1 0 KIAA1109 84162 broad.mit.edu 37 4 123167449 123167449 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:123167449C>A ENST00000264501.4 + 33 5553 c.5180C>A c.(5179-5181)cCa>cAa p.P1727Q KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1727Q|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1727Q Q2LD37 K1109_HUMAN KIAA1109 1727 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.P1727Q(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTAGCATACCAAAGGTAACa 0.328000 12 167 6.40141e-05 0.00151212 6.40141e-05 1 0 MRPS25 64432 broad.mit.edu 37 3 15094060 15094060 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:15094060C>G ENST00000253686.2 - 4 550 c.410G>C c.(409-411)cGg>cCg p.R137P MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Missense_Mutation_p.G108R NM_022497.3 NP_071942.1 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 137 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 GATGCACTCCCGCAGGCAGTA 0.582000 5 234 0 0 8.12818e-05 0 0 CATSPER3 347732 broad.mit.edu 37 5 134303734 134303734 + Missense_Mutation SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:134303734T>C ENST00000282611.6 + 1 139 c.53T>C c.(52-54)gTt>gCt p.V18A PCBD2_ENST00000512783.1_3'UTR|CATSPER3_ENST00000511235.1_3'UTR NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 18 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity p.V18A(1) NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGTTCACCAGTTGACACTACA 0.383000 21 12 0 0 9.22233e-05 0 0 DDX55 57696 broad.mit.edu 37 12 124104073 124104073 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:124104073C>G ENST00000238146.4 + 13 1478 c.1428C>G c.(1426-1428)ccC>ccG p.P476P DDX55_ENST00000421670.3_Silent_p.P83P|DDX55_ENST00000538744.1_Silent_p.P445P|DDX55_ENST00000541259.1_3'UTR NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 476 ATP binding|ATP-dependent helicase activity|RNA binding p.P476P(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) ATTTTGTGCCCGTGGACGTTA 0.438000 4 146 0 0 0.00024832 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998808 27998808 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:27998808C>T ENST00000441525.1 - 1 758 c.644G>A c.(643-645)gGt>gAt p.G215D NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 215 p.G215D(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 TAAGTCATCACCGCTACTGGC 0.507000 13 2 0 0 0.000151284 0 0 KCNK7 10089 broad.mit.edu 37 11 65360547 65360547 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:65360547C>G ENST00000340313.4 - 3 1076 c.853G>C c.(853-855)Ggg>Cgg p.G285R KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000394217.2_3'UTR NM_033347.1 NP_203133.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 285 integral to membrane potassium channel activity|voltage-gated ion channel activity p.G285R(1) endometrium(1)|liver(1)|lung(1) 3 TCATCCTGCCCTAGGATGCCA 0.627000 3 16 0 0 1.23904e-05 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727897 20727897 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:20727897C>A ENST00000427401.4 - 4 1206 c.1112G>T c.(1111-1113)tGt>tTt p.C371F NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 371 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.C370F(1) breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 ACATTCTTCACATTTGTAGGG 0.408000 13 13 3.45872e-05 0.000823964 0.000422831 1 0 FGF18 8817 broad.mit.edu 37 5 170863159 170863159 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:170863159G>C ENST00000274625.5 + 3 676 c.132G>C c.(130-132)cgG>cgC p.R44R NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 44 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding p.R44R(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGCGGGCTCGGGACGATGTGA 0.637000 3 27 0 0 1.23904e-05 0 0 RAG1 5896 broad.mit.edu 37 11 36597288 36597288 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:36597288C>G ENST00000299440.5 + 2 2546 c.2434C>G c.(2434-2436)Cag>Gag p.Q812E NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 812 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.Q812E(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CAAGATCTTCCAGCTAGAGAT 0.473000 Familial Hemophagocytic Lymphohistiocytosis 4 97 0 0 1.23904e-05 0 0 OR7A5 26659 broad.mit.edu 37 19 14938679 14938679 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:14938679G>A ENST00000322301.3 - 2 462 c.375C>T c.(373-375)gcC>gcT p.A125A OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.A125A Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A125A(1) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 GGTGACAGATGGCCACAAACC 0.488000 40 11 0 0 0.000106405 0 0 RANBP10 57610 broad.mit.edu 37 16 67805983 67805983 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:67805983C>G ENST00000317506.3 - 3 469 c.354G>C c.(352-354)atG>atC p.M118I RANBP10_ENST00000411657.2_Start_Codon_SNP_p.M1I|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Missense_Mutation_p.M118I|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.M118I|RANBP10_ENST00000425512.2_Intron NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 118 B30.2/SPRY. p.M118I(1) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) GTCCTATTCCCATGTAACTTC 0.373000 6 205 0 0 3.59834e-05 0 0 NEXN 91624 broad.mit.edu 37 1 78383891 78383891 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:78383891G>A ENST00000330010.8 + 4 485 c.188G>A c.(187-189)cGc>cAc p.R63H NEXN_ENST00000457030.1_Missense_Mutation_p.R127H|NEXN_ENST00000334785.7_Missense_Mutation_p.R127H|NEXN_ENST00000294624.8_Missense_Mutation_p.R127H NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 127 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle p.R127H(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) GAACGAAAACGCAGAATTGAG 0.368000 34 53 0 0 8.91981e-05 0 0 ERG 2078 broad.mit.edu 37 21 39755518 39755518 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr21:39755518G>C ENST00000442448.1 - 11 1467 c.1196C>G c.(1195-1197)cCg>cGg p.P399R ERG_ENST00000288319.7_Missense_Mutation_p.P416R|ERG_ENST00000398897.1_Missense_Mutation_p.P300R|ERG_ENST00000398919.2_Missense_Mutation_p.P423R|ERG_ENST00000453032.2_Missense_Mutation_p.P324R|ERG_ENST00000398907.1_Missense_Mutation_p.P393R|ERG_ENST00000398905.1_Missense_Mutation_p.P392R|ERG_ENST00000417133.2_Missense_Mutation_p.P423R|ERG_ENST00000398910.1_Missense_Mutation_p.P400R|ERG_ENST00000398911.1_Missense_Mutation_p.P399R NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 423 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.P423R(1) EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) GCCCATGTACGGGAGGTCTGA 0.612000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 3 41 0 0 6.4e-05 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818620 159818620 + RNA SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:159818620A>T ENST00000497452.1 - 0 517 GGGGACGGGCACCGGGGCCCG 0.701000 14 26 0 0 0.000422831 0 0 COL22A1 169044 broad.mit.edu 37 8 139629183 139629183 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:139629183C>A ENST00000303045.6 - 54 4290 c.3844G>T c.(3844-3846)Ggc>Tgc p.G1282C COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1262C NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1282 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.G1282C(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGAATCGCCTGTGTGTCCC 0.577000 HNSCC(7;0.00092) 18 33 1.96292e-10 4.99082e-09 0.000175454 1 0 ATP7B 540 broad.mit.edu 37 13 52548699 52548699 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:52548699C>G ENST00000242839.4 - 2 813 c.657G>C c.(655-657)ctG>ctC p.L219L ATP7B_ENST00000344297.5_Silent_p.L219L|ATP7B_ENST00000400370.3_Silent_p.L219L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.L219L|ATP7B_ENST00000418097.2_Silent_p.L219L|ATP7B_ENST00000448424.2_Silent_p.L219L|ATP7B_ENST00000542656.1_Silent_p.L187L NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 219 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding p.L219L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CAATTGGTCCCAGGCTTAAGG 0.448000 Wilson disease 6 219 0 0 3.59834e-05 0 0 GABRQ 55879 broad.mit.edu 37 X 151818273 151818273 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:151818273G>A ENST00000370306.2 + 6 699 c.679G>A c.(679-681)Gag>Aag p.E227K NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 227 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.E227K(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CATGACTGAGGAGCTGCATAT 0.483000 64 13 0 0 0.000147903 0 0 SENP7 57337 broad.mit.edu 37 3 101231956 101231956 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:101231956C>G ENST00000394095.2 - 1 72 c.19G>C c.(19-21)Ggg>Cgg p.G7R SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.G7R|SENP7_ENST00000394094.2_Missense_Mutation_p.G7R|SENP7_ENST00000394091.1_5'UTR NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 7 proteolysis nucleus cysteine-type peptidase activity p.G7R(2) breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGCCGTCGCCCGAGCTTTCTC 0.607000 4 150 0 0 0.00024832 0 0 POLE 5426 broad.mit.edu 37 12 133245001 133245001 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:133245001C>G ENST00000320574.5 - 19 2157 c.2114G>C c.(2113-2115)cGg>cCg p.R705P POLE_ENST00000535270.1_Missense_Mutation_p.R678P NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 705 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding p.R705P(2) NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ATGAAAGGCCCGAGCTGGCCC 0.607000 DNA polymerases (catalytic subunits) 4 113 0 0 0.00024832 0 0 PTH2R 5746 broad.mit.edu 37 2 209353827 209353827 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:209353827C>T ENST00000272847.2 + 11 1380 c.1167C>T c.(1165-1167)ctC>ctT p.L389L AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 389 integral to plasma membrane parathyroid hormone receptor activity p.L389L(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TCACTGGGCTCGGGTGGGAGA 0.488000 29 51 0 0 0.000227799 0 0 EIF2B3 8891 broad.mit.edu 37 1 45340362 45340362 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:45340362G>C ENST00000360403.2 - 10 1316 c.1190C>G c.(1189-1191)aCt>aGt p.T397S EIF2B3_ENST00000372183.3_Missense_Mutation_p.T397S NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 397 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity p.T397S(1) endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) TTCCTCCACAGTGACTGAGTT 0.398000 50 74 0 0 0.000147903 0 0 GPATCH1 55094 broad.mit.edu 37 19 33602681 33602681 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:33602681G>T ENST00000170564.2 + 12 1951 c.1637G>T c.(1636-1638)cGt>cTt p.R546L NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 546 catalytic step 2 spliceosome nucleic acid binding p.R546L(1) breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) GAGCGAGGCCGTGAGCGGGAT 0.582000 30 11 1.30897e-18 3.61039e-17 0.000279167 1 0 NEUROD6 63974 broad.mit.edu 37 7 31378296 31378296 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:31378296G>T ENST00000297142.3 - 2 909 c.587C>A c.(586-588)gCt>gAt p.A196D NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 196 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A196D(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GTGGTGTGCAGCCTCCCCACC 0.552000 38 49 2.05212e-20 5.72791e-19 0.000191422 1 0 MC5R 4161 broad.mit.edu 37 18 13826433 13826433 + Silent SNP C C G rs142471410 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:13826433C>G ENST00000324750.3 + 1 891 c.669C>G c.(667-669)ccC>ccG p.P223P NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 223 ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding p.P223P(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CGGCTCTGCCCGGGGCCAGCT 0.622000 5 182 0 0 1.23904e-05 0 0 PHACTR2 9749 broad.mit.edu 37 6 144033228 144033228 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:144033228G>A ENST00000427704.2 + 2 219 c.89G>A c.(88-90)aGa>aAa p.R30K PHACTR2_ENST00000367584.4_Missense_Mutation_p.R98K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.R30K|PHACTR2_ENST00000397980.3_Missense_Mutation_p.R41K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.R41K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R41K NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 30 actin binding|protein phosphatase inhibitor activity p.R41K(1)|p.R30K(1) NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CCCTTCAAAAGAAAGGGGAAA 0.428000 60 96 0 0 0.000147903 0 0 HEG1 57493 broad.mit.edu 37 3 124732073 124732073 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:124732073G>C ENST00000311127.4 - 6 2417 c.2350C>G c.(2350-2352)Cca>Gca p.P784A NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 784 extracellular region|integral to membrane calcium ion binding p.P784A(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TCTTGGTGTGGGGTGCTCTGG 0.463000 5 264 0 0 3.59834e-05 0 0 DCC 1630 broad.mit.edu 37 18 50734108 50734108 + Nonsense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:50734108T>A ENST00000442544.2 + 11 2398 c.1782T>A c.(1780-1782)taT>taA p.Y594* DCC_ENST00000581580.1_Nonsense_Mutation_p.Y249*|DCC_ENST00000412726.1_Nonsense_Mutation_p.Y442* NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 594 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.Y594*(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCACCGAATATAGTCTTCGAT 0.378000 45 94 0 0 0.000125731 0 0 GPR128 84873 broad.mit.edu 37 3 100362125 100362125 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:100362125G>C ENST00000273352.3 + 7 982 c.714G>C c.(712-714)atG>atC p.M238I GPR128_ENST00000475887.1_Intron NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 238 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.M238I(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TTGAGCAAATGGAGACTTATT 0.363000 6 193 0 0 0.000157383 0 0 RAB2A 5862 broad.mit.edu 37 8 61496839 61496839 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:61496839G>T ENST00000262646.7 + 4 610 c.259G>T c.(259-261)Gat>Tat p.D87Y RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Missense_Mutation_p.D87Y|RAB2A_ENST00000531289.1_Missense_Mutation_p.D63Y NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 87 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity p.D87Y(1) endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) ACTAGTTTACGATATTACACG 0.378000 62 94 1.34159e-35 3.97475e-34 0.000147903 1 0 GRB2 2885 broad.mit.edu 37 17 73316467 73316467 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:73316467G>C ENST00000578961.1 - 4 641 c.467C>G c.(466-468)cCg>cGg p.P156R GRB2_ENST00000392564.1_Silent_p.P212P|GRB2_ENST00000392563.1_Silent_p.P171P|GRB2_ENST00000316804.5_Silent_p.P212P|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392562.1_Silent_p.P212P|GRB2_ENST00000316615.5_Silent_p.P171P P62993 GRB2_HUMAN growth factor receptor-bound protein 2 0 SH3 2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity p.P212P(2) breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 17 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) TCCGGTTCACGGGGGTGACAT 0.453000 5 216 0 0 3.59834e-05 0 0 ANAPC10 10393 broad.mit.edu 37 4 145916629 145916629 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:145916629G>C ENST00000507656.1 - 5 547 c.454C>G c.(454-456)Cat>Gat p.H152D ANAPC10_ENST00000309439.5_Missense_Mutation_p.H152D|ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.H152D NM_001256706.1 NP_001243635.1 Q9UM13 APC10_HUMAN anaphase promoting complex subunit 10 152 DOC. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm ubiquitin-protein ligase activity p.H152D(1) endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(180;0.151) TGTCTCATATGGGTGTCTCTT 0.368000 5 216 0 0 3.59834e-05 0 0 VANGL1 81839 broad.mit.edu 37 1 116206619 116206619 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:116206619G>C ENST00000355485.2 + 4 813 c.542G>C c.(541-543)cGg>cCg p.R181P VANGL1_ENST00000369509.1_Missense_Mutation_p.R181P|VANGL1_ENST00000310260.3_Missense_Mutation_p.R181P|VANGL1_ENST00000369510.3_Missense_Mutation_p.R179P NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 181 R -> Q (in NTD; uncertain pathogenicity). multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GACATGCCACGGGTGTTTGTG 0.498000 10 477 0 0 0.000219431 0 0 EVI5 7813 broad.mit.edu 37 1 93202138 93202138 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:93202138C>G ENST00000370331.1 - 2 107 c.98G>C c.(97-99)tGg>tCg p.W33S EVI5_ENST00000543509.1_Missense_Mutation_p.W33S|EVI5_ENST00000540033.1_Missense_Mutation_p.W33S NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 33 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity p.W33S(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GTTCTTCACCCATGAGAGAGT 0.423000 5 168 0 0 0.000157383 0 0 DHX38 9785 broad.mit.edu 37 16 72142725 72142725 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:72142725C>T ENST00000268482.3 + 24 3791 c.3282C>T c.(3280-3282)cgC>cgT p.R1094R DHX38_ENST00000536867.1_Silent_p.R406R NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1094 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R1094L(1) endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) TGAACATCCGCACAGGGATGC 0.547000 10 23 0 0 3.86212e-05 0 0 CHRM4 1132 broad.mit.edu 37 11 46407116 46407116 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:46407116C>G ENST00000433765.2 - 1 991 c.992G>C c.(991-993)cGg>cCg p.R331P NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 331 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity p.R331P(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GTTGAGGGCCCGCGGCTGCAG 0.637000 6 317 0 0 0.000274275 0 0 AE000661.37 0 broad.mit.edu 37 14 22919113 22919113 + RNA SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr14:22919113C>A ENST00000514473.2 - 0 225 TRDJ1_ENST00000390473.1_RNA AAAAGGAACCCGTGTGACTGT 0.443000 38 12 2.9001e-28 8.41391e-27 0.000147903 1 0 RPTN 126638 broad.mit.edu 37 1 152128582 152128582 + Nonsense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:152128582G>T ENST00000316073.3 - 3 1057 c.993C>A c.(991-993)taC>taA p.Y331* NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 331 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGGCTGACTGTAGTGGGAAC 0.488000 10 888 0.00010058 0.0023481 0.00010058 1 0 ABHD1 84696 broad.mit.edu 37 2 27353581 27353581 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:27353581C>A ENST00000316470.4 + 9 1301 c.1187C>A c.(1186-1188)gCt>gAt p.A396D NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 396 integral to membrane carboxylesterase activity p.A396D(1) endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACCTCAGGGCTCTCTTACCT 0.512000 23 40 3.7963e-18 1.03889e-16 0.00047179 1 0 CFAP221 200373 broad.mit.edu 37 2 120395970 120395970 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:120395970C>G ENST00000602047.1 + 21 2364 c.1252C>G c.(1252-1254)Caa>Gaa p.Q418E PCDP1_ENST00000413369.3_Missense_Mutation_p.Q704E Q4G0U5 PCDP1_HUMAN 704 cilium calmodulin binding p.Q418E(1) Colorectal(110;0.196) TCCTGTCACCCAAAAGCAGTT 0.537000 4 74 0 0 0.00024832 0 0 CSMD3 114788 broad.mit.edu 37 8 113253965 113253965 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:113253965G>C ENST00000297405.5 - 66 10696 c.10452C>G c.(10450-10452)ccC>ccG p.P3484P CSMD3_ENST00000352409.3_Silent_p.P3414P|CSMD3_ENST00000343508.3_Silent_p.P3444P|CSMD3_ENST00000455883.2_Silent_p.P3315P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3484 integral to membrane|plasma membrane p.P3444P(2)|p.P3484P(2) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCTTTGGGCTGGGTGTTCCCA 0.323000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 221 0 0 0.000157383 0 0 COQ3 51805 broad.mit.edu 37 6 99823932 99823932 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:99823932G>C ENST00000254759.3 - 5 637 c.613C>G c.(613-615)Ctg>Gtg p.L205V COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 205 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity p.L205V(1) cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) ATCTCTTCCAGGGAACACACT 0.393000 5 172 0 0 3.59834e-05 0 0 KDM5C 8242 broad.mit.edu 37 X 53227964 53227964 + Nonsense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:53227964C>A ENST00000452825.3 - 14 2681 c.2149G>T c.(2149-2151)Gag>Tag p.E717* KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E783*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E784*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E743*|KDM5C_ENST00000375401.3_Nonsense_Mutation_p.E784* NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 784 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding p.E717*(1)|p.E784*(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CGCCCATCCTCCACCTCCAGG 0.572000 """N, F, S""" clear cell renal carcinoma 43 14 1.23713e-20 3.46694e-19 0.000147903 1 0 MYOM2 9172 broad.mit.edu 37 8 2092878 2092878 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:2092878C>A ENST00000262113.4 + 37 4512 c.4371C>A c.(4369-4371)ccC>ccA p.P1457P MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.P882P NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1457 muscle contraction myosin filament structural constituent of muscle p.P1457P(1) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AGCTCATCCCCGCGTCTGCCT 0.582000 16 22 6.31663e-08 1.56895e-06 0.000308642 1 0 KCNK18 338567 broad.mit.edu 37 10 118957090 118957090 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:118957090G>C ENST00000334549.1 + 1 91 c.91G>C c.(91-93)Gtg>Ctg p.V31L NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 31 integral to membrane|plasma membrane p.V31L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CTGCTTTCTGGTGACCTACGC 0.607000 18 27 0 0 9.7654e-05 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801408 185801408 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:185801408C>T ENST00000302277.6 + 4 1879 c.1285C>T c.(1285-1287)Ctt>Ttt p.L429F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 429 intracellular zinc ion binding p.L429F(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGTACCTGTCCTTAACAAACA 0.373000 107 150 0 0 0.000147903 0 0 B4GALT5 9334 broad.mit.edu 37 20 48252857 48252857 + Nonsense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:48252857C>A ENST00000371711.4 - 9 1346 c.1159G>T c.(1159-1161)Gag>Tag p.E387* NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 387 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding p.E387*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) TCTCAGTACTCGTTCACCTGA 0.483000 53 96 3.40165e-17 9.23665e-16 0.000147903 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156715060 156715060 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:156715060A>T ENST00000264424.8 + 6 630 c.548A>T c.(547-549)gAa>gTa p.E183V GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E205V|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E183V|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E115V|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E115V|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E115V|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E163V NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 183 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity p.E183V(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) TTAATTGAAGAAAAAGAGTCA 0.343000 47 91 0 0 0.000147903 0 0 GLUD1 2746 broad.mit.edu 37 10 88827869 88827869 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:88827869C>G ENST00000277865.4 - 5 788 c.692G>C c.(691-693)cGg>cCg p.R231P GLUD1_ENST00000537649.1_Missense_Mutation_p.R64P|GLUD1_ENST00000544149.1_Missense_Mutation_p.R98P NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 231 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding p.R231Q(1)|p.R231P(1) endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) GGACATCTCCCGCTCACCTGT 0.532000 4 48 0 0 3.59834e-05 0 0 KIAA1109 84162 broad.mit.edu 37 4 123239424 123239424 + Splice_Site SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:123239424G>C ENST00000264501.4 + 63 11166 c.10794_splice c.e63+1 p.R3598_splice KIAA1109_ENST00000388738.3_Splice_Site_p.R3598_splice|KIAA1109_ENST00000455637.1_Splice_Site_p.R3598_splice Q2LD37 K1109_HUMAN KIAA1109 3598 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.R3598P(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCCAGTATGCGGGTGAGTTCT 0.403000 4 117 0 0 1.23904e-05 0 0 ANK3 288 broad.mit.edu 37 10 61941095 61941095 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:61941095G>C ENST00000280772.1 - 18 2367 c.2176C>G c.(2176-2178)Cag>Gag p.Q726E ANK3_ENST00000373827.2_Missense_Mutation_p.Q720E|ANK3_ENST00000503366.1_Missense_Mutation_p.Q709E NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 726 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.Q726E(1)|p.Q387E(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACCTTTGTCTGGGCGTCCACA 0.498000 6 214 0 0 3.59834e-05 0 0 SYBU 55638 broad.mit.edu 37 8 110592123 110592123 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:110592123C>T ENST00000399066.3 - 4 1357 c.630G>A c.(628-630)ctG>ctA p.L210L SYBU_ENST00000533065.1_Silent_p.L94L|SYBU_ENST00000529175.1_Silent_p.L7L|SYBU_ENST00000440310.1_Silent_p.L213L|SYBU_ENST00000533895.1_Silent_p.L212L|SYBU_ENST00000533171.1_Silent_p.L213L|SYBU_ENST00000446070.2_Silent_p.L212L|SYBU_ENST00000528331.1_Silent_p.L94L|SYBU_ENST00000422135.1_Silent_p.L213L|SYBU_ENST00000408908.2_Silent_p.L213L|SYBU_ENST00000529690.1_Silent_p.L83L|SYBU_ENST00000528647.1_Silent_p.L212L|SYBU_ENST00000408889.3_Silent_p.L94L|SYBU_ENST00000532779.1_Silent_p.L145L|SYBU_ENST00000433638.1_Silent_p.L213L|SYBU_ENST00000424158.2_Silent_p.L218L|SYBU_ENST00000419099.1_Silent_p.L212L|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000276646.9_Silent_p.L213L NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 213 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane p.L210L(1) NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TGACAGGGCTCAGCTGATTCC 0.552000 72 120 0 0 0.000147903 0 0 PAN2 9924 broad.mit.edu 37 12 56713245 56713245 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:56713245C>G ENST00000425394.2 - 23 3505 c.3129G>C c.(3127-3129)tcG>tcC p.S1043S PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000548043.1_Silent_p.S1043S|PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000549090.1_5'UTR NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 1043 Exonuclease. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity p.S1039S(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GCTTTATACCCGAGTATTGAG 0.443000 4 122 0 0 3.59834e-05 0 0 NLRP4 147945 broad.mit.edu 37 19 56379135 56379135 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:56379135C>A ENST00000301295.6 + 6 2669 c.2247C>A c.(2245-2247)aaC>aaA p.N749K NLRP4_ENST00000587891.1_Missense_Mutation_p.N674K|NLRP4_ENST00000346986.5_Intron NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 749 ATP binding p.N749K(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TTCTAACCAACAACAAGAAGC 0.488000 50 33 1.86633e-21 5.24073e-20 0.000147903 1 0 COL11A1 1301 broad.mit.edu 37 1 103483430 103483430 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:103483430C>G ENST00000358392.2 - 11 1712 c.1395G>C c.(1393-1395)atG>atC p.M465I COL11A1_ENST00000512756.1_Missense_Mutation_p.M337I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M414I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M453I NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 453 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.M465I(2)|p.M453I(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTGGAGGACCCATAATACCCT 0.413000 5 156 0 0 3.59834e-05 0 0 INPP4A 3631 broad.mit.edu 37 2 99182490 99182490 + Splice_Site SNP A A C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:99182490A>C ENST00000074304.5 + 22 2687 c.e22-1 INPP4A_ENST00000409016.3_Splice_Site|INPP4A_ENST00000467042.1_Intron|INPP4A_ENST00000523221.1_Splice_Site|INPP4A_ENST00000409463.1_Splice_Site|INPP4A_ENST00000545415.1_Splice_Site|INPP4A_ENST00000409540.3_Splice_Site|INPP4A_ENST00000409851.3_Splice_Site NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.?(2) breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 ACCTTTCTCCAGCGACGGGTT 0.657000 3 9 0 0 0.00024832 0 0 THBS2 7058 broad.mit.edu 37 6 169637803 169637803 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:169637803C>A ENST00000366787.3 - 9 1466 c.1217G>T c.(1216-1218)cGg>cTg p.R406L XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 406 TSP type-1 1. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.R406L(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GTCACAGGACCGGCCTCTCTG 0.652000 16 24 3.41278e-10 8.64572e-09 5.01169e-05 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140794435 140794435 + Nonsense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:140794435G>T ENST00000398610.2 + 1 1693 c.1693G>T c.(1693-1695)Gag>Tag p.E565* PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 p.E565*(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATGCGCCCGAGATCCTGTA 0.652000 64 34 7.05995e-25 2.02308e-23 0.000147903 1 0 ACACB 32 broad.mit.edu 37 12 109690858 109690858 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:109690858G>C ENST00000338432.7 + 43 6059 c.5940G>C c.(5938-5940)ctG>ctC p.L1980L ACACB_ENST00000543201.1_Silent_p.L646L|ACACB_ENST00000377848.3_Silent_p.L1980L|ACACB_ENST00000377854.5_Silent_p.L1910L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1980 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.L646L(1)|p.L1980L(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ACAACCAGCTGGGTGGCGTTC 0.522000 6 180 0 0 0.000157383 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433278 104433278 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:104433278G>C ENST00000361820.3 - 3 2016 c.1416C>G c.(1414-1416)ccC>ccG p.P472P NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 472 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding p.P472P(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTTTCCCATGGGGTCATGTT 0.502000 6 249 0 0 0.000274275 0 0 EPPK1 83481 broad.mit.edu 37 8 144940387 144940387 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr8:144940387C>G ENST00000525985.1 - 2 7106 c.7035G>C c.(7033-7035)acG>acC p.T2345T P58107 EPIPL_HUMAN epiplakin 1 2345 cytoplasm|cytoskeleton protein binding|structural molecule activity p.T2345T(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGACGCCGCCCGTGGCGATCT 0.692000 6 275 0 0 8.12818e-05 0 0 USP9X 8239 broad.mit.edu 37 X 41025463 41025463 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:41025463G>T ENST00000324545.7 + 16 2957 c.2324G>T c.(2323-2325)tGg>tTg p.W775L USP9X_ENST00000378308.2_Missense_Mutation_p.W775L NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 775 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity p.W775L(1)|p.W768L(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GATTACCTTTGGAGGGTAAGT 0.348000 17 4 7.05477e-17 1.9119e-15 5.01169e-05 1 0 ASXL2 55252 broad.mit.edu 37 2 25973143 25973143 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:25973143G>C ENST00000435504.4 - 12 1575 c.1282C>G c.(1282-1284)Cag>Gag p.Q428E ASXL2_ENST00000404843.1_Missense_Mutation_p.Q168E|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q400E|ASXL2_ENST00000272341.4_Missense_Mutation_p.Q168E Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding p.Q168E(1)|p.Q428E(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTCTGACTGGGAGACTACT 0.458000 9 447 0 0 3.86212e-05 0 0 HTR3E 285242 broad.mit.edu 37 3 183818191 183818191 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:183818191C>A ENST00000335304.2 + 1 225 c.31C>A c.(31-33)Cca>Aca p.P11T HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000440596.2_Missense_Mutation_p.P11T|HTR3E_ENST00000436361.2_Missense_Mutation_p.P11T|HTR3E_ENST00000415389.2_Intron NM_182589.2|NM_198314.2 NP_872395.2|NP_938056.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 0 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.P11T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ACGGGCGACCCCACGCCCTGC 0.483000 62 98 5.89852e-23 1.66973e-21 0.000147903 1 0 SPEN 23013 broad.mit.edu 37 1 16257949 16257949 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:16257949C>G ENST00000375759.3 + 11 5418 c.5214C>G c.(5212-5214)ccC>ccG p.P1738P NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1738 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.P1738P(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTCCAACTCCCGGGGCCTCGT 0.562000 4 176 0 0 1.23904e-05 0 0 ME2 4200 broad.mit.edu 37 18 48450553 48450553 + Missense_Mutation SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr18:48450553T>C ENST00000321341.5 + 11 1414 c.1142T>C c.(1141-1143)gTg>gCg p.V381A ME2_ENST00000382927.3_Missense_Mutation_p.V381A NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 381 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding p.V381A(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) GAAGATGCAGTGAATATACTG 0.358000 24 63 0 0 0.000117367 0 0 STAC3 246329 broad.mit.edu 37 12 57642836 57642836 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:57642836G>C ENST00000332782.2 - 3 523 c.322C>G c.(322-324)Cgg>Ggg p.R108G STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.R69G NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 108 intracellular signal transduction identical protein binding|metal ion binding p.R108G(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 ACAATCATCCGGGCACAGACA 0.483000 5 100 0 0 1.23904e-05 0 0 CD1C 911 broad.mit.edu 37 1 158261152 158261152 + Missense_Mutation SNP G G C rs114534381 byFrequency TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:158261152G>C ENST00000368170.3 + 2 569 c.290G>C c.(289-291)cGg>cCg p.R97P NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 97 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GGATTAACTCGGGAGATTCAA 0.363000 5 136 0 0 3.59834e-05 0 0 AOC1 26 broad.mit.edu 37 7 150555928 150555928 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:150555928G>A ENST00000493429.1 + 5 2232 c.1648G>A c.(1648-1650)Gtc>Atc p.V550I AOC1_ENST00000360937.4_Missense_Mutation_p.V550I|AOC1_ENST00000416793.2_Missense_Mutation_p.V550I|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.V550I amine oxidase, copper containing 1 p.V550I(1) ACACCGCGTGGTCCAGCCAAC 0.577000 19 31 0 0 0.000229342 0 0 CST9L 128821 broad.mit.edu 37 20 23549030 23549030 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr20:23549030C>A ENST00000376979.3 - 1 356 c.58G>T c.(58-60)Ggc>Tgc p.G20C NM_080610.2 NP_542177.1 Q9H4G1 CST9L_HUMAN cystatin 9-like 20 extracellular region cysteine-type endopeptidase inhibitor activity p.G20C(1) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) ATCTGGGAGCCTAAGAGAAGC 0.582000 10 18 3.86212e-05 0.000913839 3.86212e-05 1 0 EVC 2121 broad.mit.edu 37 4 5803796 5803796 + Missense_Mutation SNP A A C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:5803796A>C ENST00000382674.2 + 16 2608 c.2424A>C c.(2422-2424)aaA>aaC p.K808N EVC_ENST00000264956.6_Missense_Mutation_p.K808N P57679 EVC_HUMAN Ellis van Creveld syndrome 808 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) AGGAGAGAAAACTGCAGCACC 0.577000 6 84 0 0 0.000274275 0 0 CBX8 57332 broad.mit.edu 37 17 77768512 77768512 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:77768512C>G ENST00000269385.4 - 5 1209 c.1092G>C c.(1090-1092)acG>acC p.T364T NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 364 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding p.T364T(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGGTCACGTCCGTGACCACCA 0.547000 4 127 0 0 1.23904e-05 0 0 CNTN1 1272 broad.mit.edu 37 12 41316191 41316191 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:41316191G>C ENST00000551295.2 + 5 478 c.361G>C c.(361-363)Ggg>Cgg p.G121R CNTN1_ENST00000547849.1_Missense_Mutation_p.G121R|CNTN1_ENST00000547702.1_Missense_Mutation_p.G121R|CNTN1_ENST00000347616.1_Missense_Mutation_p.G121R|CNTN1_ENST00000360099.3_Missense_Mutation_p.G121R|CNTN1_ENST00000348761.2_Missense_Mutation_p.G110R NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 121 Ig-like C2-type 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.G121R(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TAATAACTACGGGATGGTCAG 0.398000 4 66 0 0 1.23904e-05 0 0 SUCNR1 56670 broad.mit.edu 37 3 151599205 151599205 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:151599205C>A ENST00000362032.4 + 3 979 c.874C>A c.(874-876)Cct>Act p.P292T RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 292 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.P292T(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) TGTCATCAACCCTGTCTTCTA 0.463000 43 100 1.7489e-18 4.81431e-17 0.000106405 1 0 TCF23 150921 broad.mit.edu 37 2 27375691 27375691 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:27375691C>A ENST00000296096.5 + 3 731 c.601C>A c.(601-603)Ctc>Atc p.L201I NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 201 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus p.L201I(1) large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCAGATGCTCTCCTTTCCAC 0.537000 64 81 2.165e-29 6.34703e-28 0.000147903 1 0 AASS 10157 broad.mit.edu 37 7 121717923 121717923 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:121717923G>C ENST00000393376.1 - 22 2726 c.2631C>G c.(2629-2631)ccC>ccG p.P877P AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.P877P Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 877 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity p.P877P(1) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CCATGGCGGTGGGTAACCCCA 0.463000 6 276 0 0 8.12818e-05 0 0 ATG13 9776 broad.mit.edu 37 11 46686437 46686437 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:46686437G>C ENST00000434074.1 + 11 1517 c.828G>C c.(826-828)ctG>ctC p.L276L ATG13_ENST00000359513.4_Silent_p.L276L|ATG13_ENST00000451945.1_Intron|ATG13_ENST00000312040.4_Silent_p.L276L|ATG13_ENST00000526508.1_Silent_p.L276L|ATG13_ENST00000524625.1_Intron|ATG13_ENST00000528494.1_Silent_p.L309L|ATG13_ENST00000530500.1_Intron|ATG13_ENST00000529655.1_Intron NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 276 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding p.L309L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 CTGCTGCCCTGGGCGTTGGAT 0.483000 6 241 0 0 0.000157383 0 0 GSTA5 221357 broad.mit.edu 37 6 52705574 52705574 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:52705574C>G ENST00000370989.1 - 2 196 c.38G>C c.(37-39)cGg>cCg p.R13P GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.R13P Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 13 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.R13P(1) endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) CATACTGCCCCGTGCATTGGA 0.463000 4 102 0 0 1.23904e-05 0 0 PNPLA1 285848 broad.mit.edu 37 6 36259267 36259267 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:36259267C>G ENST00000394571.2 + 2 376 c.376C>G c.(376-378)Cgc>Ggc p.R126G PNPLA1_ENST00000388715.3_Missense_Mutation_p.R31G|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R31G NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 126 Patatin. lipid catabolic process hydrolase activity p.R31G(1)|p.R126G(1) breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 GAGCCTCACCCGCTTAACGGA 0.602000 3 16 0 0 6.4e-05 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516259 140516259 + Nonsense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:140516259G>T ENST00000231134.5 + 1 1460 c.1243G>T c.(1243-1245)Gag>Tag p.E415* NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 415 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.E415*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCCAAGCCGAGTACAACAT 0.502000 31 21 6.84511e-11 1.7596e-09 8.91981e-05 1 0 TTN 7273 broad.mit.edu 37 2 179539774 179539774 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:179539774G>C ENST00000589042.1 - 150 34828 c.34604C>G c.(34603-34605)cCa>cGa p.P11535R TTN_ENST00000591111.1_Missense_Mutation_p.P11161R|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10234R|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11298 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P10234R(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCTTCAACTGGTAGAACTTC 0.323000 4 57 0 0 0.00024832 0 0 PRSS1 5644 broad.mit.edu 37 7 142459785 142459785 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:142459785G>A ENST00000486171.1 + 4 420 c.403G>A c.(403-405)Gcc>Acc p.A135T PRSS1_ENST00000311737.7_Missense_Mutation_p.A121T P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 121 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.A121T(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AGTAATCAACGCCCGCGTGTC 0.572000 55 67 0 0 0.000147903 0 0 RBM6 10180 broad.mit.edu 37 3 50091820 50091820 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:50091820C>A ENST00000443081.1 + 8 2208 c.1289C>A c.(1288-1290)cCa>cAa p.P430Q RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.P562Q|RBM6_ENST00000422955.1_Missense_Mutation_p.P40Q|RBM6_ENST00000442092.1_Missense_Mutation_p.P40Q P78332 RBM6_HUMAN RNA binding motif protein 6 562 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding p.P562Q(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TGCAAGAACCCAAGAGAAGGT 0.383000 11 271 3.07112e-06 7.48197e-05 6.40141e-05 1 0 ELF3 1999 broad.mit.edu 37 1 201981142 201981142 + Missense_Mutation SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:201981142A>T ENST00000359651.3 + 2 3413 c.221A>T c.(220-222)gAc>gTc p.D74V RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Missense_Mutation_p.D74V|ELF3_ENST00000367283.3_Missense_Mutation_p.D74V P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 74 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.D74V(2) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CAGGTTCTGGACTGGATCAGC 0.582000 99 47 0 0 0.000147903 0 0 BOD1L1 259282 broad.mit.edu 37 4 13605302 13605302 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:13605302C>T ENST00000040738.5 - 10 3357 c.3222G>A c.(3220-3222)cgG>cgA p.R1074R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1074 DNA binding p.R1074R(1) AGCTTCCTCTCCGATTTTCGC 0.418000 27 50 0 0 7.16444e-05 0 0 HAT1 8520 broad.mit.edu 37 2 172823010 172823010 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:172823010C>G ENST00000264108.4 + 7 728 c.692C>G c.(691-693)cCa>cGa p.P231R HAT1_ENST00000392584.1_Missense_Mutation_p.P146R|SLC25A12_ENST00000472748.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 231 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding p.P231R(1) breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) TATGTGTACCCAGACAAAACC 0.403000 4 90 0 0 1.23904e-05 0 0 RIC8A 60626 broad.mit.edu 37 11 209514 209514 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:209514G>C ENST00000526104.1 + 3 1584 c.240G>C c.(238-240)ctG>ctC p.L80L RIC8A_ENST00000325207.5_Silent_p.L80L|RIC8A_ENST00000527696.1_Silent_p.L74L Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 80 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity p.L80L(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GCAACTGCCTGGACCCGTTCA 0.632000 4 53 0 0 1.23904e-05 0 0 CNTLN 54875 broad.mit.edu 37 9 17464545 17464545 + Missense_Mutation SNP A A G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:17464545A>G ENST00000380647.3 + 21 3539 c.3455A>G c.(3454-3456)gAc>gGc p.D1152G CNTLN_ENST00000262360.5_Missense_Mutation_p.D1152G|CNTLN_ENST00000425824.1_Missense_Mutation_p.D1152G Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 1152 centriole|membrane two-component sensor activity p.D1152G(1) breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) TTGATAGAGGACTTGAAATTT 0.299000 107 62 0 0 0.000147903 0 0 TENM1 10178 broad.mit.edu 37 X 123554306 123554306 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:123554306G>C ENST00000422452.2 - 25 4900 c.4837C>G c.(4837-4839)Caa>Gaa p.Q1613E STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.Q1606E NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.Q1608E(1) CAGTATACTTGTCCGCCAGGC 0.522000 21 3 0 0 0.000175454 0 0 OR2T4 127074 broad.mit.edu 37 1 248525551 248525551 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:248525551C>A ENST00000366475.1 + 1 669 c.669C>A c.(667-669)gaC>gaA p.D223E NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D223E(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGCTCAGACACCTCACTCT 0.473000 126 58 1.41866e-75 4.30338e-74 0.000147903 1 0 AMER1 139285 broad.mit.edu 37 X 63411863 63411863 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:63411863C>A ENST00000330258.3 - 2 1576 c.1304G>T c.(1303-1305)gGc>gTc p.G435V AMER1_ENST00000403336.1_Missense_Mutation_p.G435V|AMER1_ENST00000374869.3_Missense_Mutation_p.G435V NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67)|p.G435V(2) GAGCATGTAGCCGTGGTGGCC 0.527000 50 16 2.23322e-12 5.80471e-11 0.000147903 1 0 PITPNM2 57605 broad.mit.edu 37 12 123481914 123481914 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:123481914G>C ENST00000280562.5 - 10 1635 c.1430C>G c.(1429-1431)cCc>cGc p.P477R PITPNM2_ENST00000392428.1_Missense_Mutation_p.P198R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P477R|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P477R Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 477 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding p.P477R(1) NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GGGCGGGCAGGGCACCAGGCG 0.647000 21 54 0 0 9.22233e-05 0 0 PARP6 56965 broad.mit.edu 37 15 72549734 72549734 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:72549734C>G ENST00000569795.1 - 13 1641 c.954G>C c.(952-954)ctG>ctC p.L318L PARP6_ENST00000260376.7_Silent_p.L318L|PARP6_ENST00000287196.9_Silent_p.L318L|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 318 NAD+ ADP-ribosyltransferase activity p.L318L(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 ACATGACGCCCAGTGTGTAGA 0.522000 5 146 0 0 8.12818e-05 0 0 RNF216 54476 broad.mit.edu 37 7 5662579 5662579 + Missense_Mutation SNP C C G rs150725128 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:5662579C>G ENST00000425013.2 - 17 2737 c.2513G>C c.(2512-2514)cGg>cCg p.R838P RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895P NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 838 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.R895P(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ATAGTTGACCCGCACGTTGGG 0.642000 5 108 0 0 1.23904e-05 0 0 GAN 8139 broad.mit.edu 37 16 81388139 81388139 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:81388139C>G ENST00000248272.3 + 3 574 c.412C>G c.(412-414)Cgt>Ggt p.R138G NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 138 BACK. R -> H (in GAN). cell death cytoplasm|neurofilament protein binding p.R138G(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) TATTGGTATCCGTGACTTTGC 0.483000 4 186 0 0 0.00024832 0 0 MUC16 94025 broad.mit.edu 37 19 9065289 9065289 + Missense_Mutation SNP A A G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:9065289A>G ENST00000397910.4 - 3 22360 c.22157T>C c.(22156-22158)gTg>gCg p.V7386A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7388 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V7386A(2)|p.V3019A(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTTTCTTCCACAGGGAGAGA 0.502000 14 9 0 0 0.000151284 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317908 154317908 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:154317908G>C ENST00000368489.3 + 23 2680 c.2680G>C c.(2680-2682)Ggg>Cgg p.G894R NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 880 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.G894R(1) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCTGGTGCATGGGCGCTGGTC 0.527000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 417 0 0 0.000157383 0 0 KLHL6 89857 broad.mit.edu 37 3 183211960 183211960 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:183211960C>A ENST00000341319.3 - 5 1292 c.1257G>T c.(1255-1257)ttG>ttT p.L419F NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 419 p.L419F(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CCTTGCCACCCAACACCACCA 0.448000 9 218 0.000274275 0.0062264 0.000274275 1 0 FLNC 2318 broad.mit.edu 37 7 128478663 128478663 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:128478663G>A ENST00000325888.8 + 8 1478 c.1217G>A c.(1216-1218)gGc>gAc p.G406D FLNC_ENST00000346177.6_Missense_Mutation_p.G406D NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 406 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.G406D(1) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCAGGGGCCGGCACTGGCGAT 0.667000 36 62 0 0 0.000374591 0 0 MMP20 9313 broad.mit.edu 37 11 102477386 102477386 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:102477386C>T ENST00000260228.2 - 6 845 c.833G>A c.(832-834)gGg>gAg p.G278E MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 278 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding p.G278E(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) AGTGGGCTTCCCCAGGAATAC 0.537000 36 63 0 0 0.000319135 0 0 WDR19 57728 broad.mit.edu 37 4 39219646 39219646 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:39219646G>C ENST00000399820.3 + 14 1554 c.1400G>C c.(1399-1401)cGg>cCg p.R467P WDR19_ENST00000506503.1_Missense_Mutation_p.G466R|WDR19_ENST00000288634.7_Missense_Mutation_p.R307P NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 467 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding p.R467P(2) large_intestine(1) 1 CGTGAGACTCGGCTTTTCCCA 0.373000 4 285 0 0 0.00024832 0 0 PLXNA4 91584 broad.mit.edu 37 7 131864552 131864552 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:131864552C>A ENST00000359827.3 - 20 4730 c.3768G>T c.(3766-3768)gtG>gtT p.V1256V PLXNA4_ENST00000321063.4_Silent_p.V1256V Q9HCM2 PLXA4_HUMAN plexin A4 1256 integral to membrane|intracellular|plasma membrane p.V1256V(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGGCAATGAGCACGGCCACGA 0.617000 10 19 5.50884e-06 0.000133742 0.00010058 1 0 FAM186B 84070 broad.mit.edu 37 12 49981528 49981528 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:49981528C>T ENST00000257894.2 - 7 2703 c.2542G>A c.(2542-2544)Ggg>Agg p.G848R FAM186B_ENST00000544141.1_Intron|FAM186B_ENST00000551047.1_Intron NM_032130.2 NP_115506.1 Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 848 protein complex p.G848R(1) breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATCTGCTTCCCCTGTTGGCTG 0.557000 17 22 0 0 9.7654e-05 0 0 SSX3 10214 broad.mit.edu 37 X 48211539 48211539 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:48211539G>T ENST00000298396.2 - 5 378 c.326C>A c.(325-327)cCg>cAg p.P109Q SSX3_ENST00000376893.3_Missense_Mutation_p.P109Q|SSX3_ENST00000376895.1_Missense_Mutation_p.P21Q NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.P109Q(2) endometrium(3)|large_intestine(1)|lung(9) 13 ACTCACCTTCGGGAAGATTCC 0.443000 8 113 3.86212e-05 0.000913839 3.86212e-05 1 0 PIGM 93183 broad.mit.edu 37 1 160000712 160000712 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:160000712G>C ENST00000368090.2 - 1 1071 c.818C>G c.(817-819)cCg>cGg p.P273R NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 273 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane p.P273R(1) kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTAGAAGTACGGAGAAAAGTT 0.463000 5 205 0 0 1.23904e-05 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117375073 117375073 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:117375073G>C ENST00000160373.3 - 16 3861 c.3770C>G c.(3769-3771)tCc>tGc p.S1257C NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1257 p.S1257C(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CAGCAAGTCGGAGCCCTGGAG 0.527000 15 20 0 0 5.01169e-05 0 0 RYR2 6262 broad.mit.edu 37 1 237791344 237791344 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:237791344G>T ENST00000366574.2 + 41 6721 c.6404G>T c.(6403-6405)gGc>gTc p.G2135V RYR2_ENST00000542537.1_Missense_Mutation_p.G2119V|RYR2_ENST00000360064.6_Missense_Mutation_p.G2133V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2135 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G2133V(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTGAGAATGGGCAAAGAAGAA 0.433000 43 20 1.11015e-26 3.20751e-25 0.000147903 1 0 BRD8 10902 broad.mit.edu 37 5 137488277 137488277 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:137488277G>C ENST00000254900.5 - 21 3121 c.2750C>G c.(2749-2751)cCg>cGg p.P917R NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 917 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTCTCTCTCCGGGCTGCTTTC 0.552000 6 191 0 0 0.000157383 0 0 NLRP3 114548 broad.mit.edu 37 1 247588607 247588607 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:247588607T>A ENST00000366497.2 + 4 2642 c.1862T>A c.(1861-1863)cTg>cAg p.L621Q NLRP3_ENST00000391828.3_Missense_Mutation_p.L621Q|NLRP3_ENST00000336119.3_Missense_Mutation_p.L621Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 621 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.L621Q(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCTAAAAAGCTGCAGATCCAG 0.473000 38 15 0 0 0.000191422 0 0 MTR 4548 broad.mit.edu 37 1 237024423 237024423 + Splice_Site SNP A A T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:237024423A>T ENST00000366577.5 + 20 2437 c.e20-1 MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.?(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) tgtcttttttAGGGCATTGAA 0.323000 7 24 0 0 3.86212e-05 0 0 POLR2C 5432 broad.mit.edu 37 16 57504902 57504902 + Silent SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:57504902G>T ENST00000219252.5 + 9 1037 c.699G>T c.(697-699)gtG>gtT p.V233V NM_032940.2 NP_116558.1 P19387 RPB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 233 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity p.V233V(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 10 ACTACAATGTGGAGTCCTGTG 0.532000 7 116 0.000274275 0.0062264 0.000274275 1 0 POM121C 100101267 broad.mit.edu 37 7 75053400 75053400 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:75053400G>T ENST00000453279.2 - 12 1844 c.980C>A c.(979-981)cCa>cAa p.P327Q POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Missense_Mutation_p.P569Q NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 569 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding p.P327Q(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 GTTGGTGCTTGGGGCCAGGAG 0.607000 9 168 1.58986e-06 3.88683e-05 3.86212e-05 1 0 KIAA2026 158358 broad.mit.edu 37 9 5924840 5924840 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:5924840C>A ENST00000399933.3 - 7 2503 c.2504G>T c.(2503-2505)cGc>cTc p.R835L KIAA2026_ENST00000381461.2_Missense_Mutation_p.R805L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 835 p.R10L(1)|p.R835L(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TTTCTTCAGGCGGCTCCTGAA 0.308000 37 25 8.73648e-17 2.36307e-15 0.000132358 1 0 RRAD 6236 broad.mit.edu 37 16 66957790 66957790 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:66957790C>G ENST00000299759.6 - 3 653 c.403G>C c.(403-405)Gga>Cga p.G135R RRAD_ENST00000420652.1_Missense_Mutation_p.G135R P55042 RAD_HUMAN Ras-related associated with diabetes 135 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity p.G135*(1)|p.G135R(1) endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) GCCTCTTCTCCGTCCACTACA 0.562000 4 151 0 0 1.23904e-05 0 0 EXOSC1 51013 broad.mit.edu 37 10 99203015 99203015 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:99203015C>G ENST00000370902.3 - 3 232 c.201G>C c.(199-201)gtG>gtC p.V67V EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370886.5_Silent_p.V67V NM_016046.3 NP_057130.1 Q9Y3B2 EXOS1_HUMAN exosome component 1 67 S1 motif. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding p.V67V(1) breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) CAATAGCTCCCACATCTGGCA 0.458000 6 266 0 0 8.12818e-05 0 0 SPATA19 219938 broad.mit.edu 37 11 133715330 133715330 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:133715330C>A ENST00000299140.3 - 1 66 c.12G>T c.(10-12)acG>acT p.T4T SPATA19_ENST00000532889.1_Silent_p.T4T NM_174927.1 NP_777587.1 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 4 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane p.T4T(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1) 11 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) CAATCCATGTCGTAATTATCA 0.463000 23 55 9.86323e-18 2.68341e-16 7.16444e-05 1 0 ZNF134 7693 broad.mit.edu 37 19 58132703 58132703 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr19:58132703G>C ENST00000396161.5 + 3 1526 c.1216G>C c.(1216-1218)Ggg>Cgg p.G406R NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 406 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G406R(1)|p.G406W(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CAGTGAATGTGGGAAGGCCTA 0.478000 4 94 0 0 0.00024832 0 0 IRS2 8660 broad.mit.edu 37 13 110437749 110437749 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:110437749G>C ENST00000375856.3 - 1 1166 c.652C>G c.(652-654)Cgt>Ggt p.R218G NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 218 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity p.R218G(1) kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) AGGCACAGACGGTACACCCCC 0.667000 3 21 0 0 6.4e-05 0 0 OR2J2 26707 broad.mit.edu 37 6 29141763 29141763 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr6:29141763G>C ENST00000377167.2 + 1 453 c.351G>C c.(349-351)gtG>gtC p.V117V NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V117V(1) endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TCCTACTGGTGGTGATGTCAT 0.488000 6 320 0 0 3.59834e-05 0 0 GPHN 10243 broad.mit.edu 37 14 67589024 67589024 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr14:67589024C>T ENST00000478722.1 + 17 2799 c.1678C>T c.(1678-1680)Cgt>Tgt p.R560C GPHN_ENST00000305960.9_Missense_Mutation_p.R496C|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.R573C|GPHN_ENST00000315266.5_Missense_Mutation_p.R527C NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 527 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity p.R560C(1) large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) AGACAGCAATCGTTCAACTCT 0.388000 T MLL AL 29 16 0 0 0.000339439 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543675 141543675 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:141543675C>G ENST00000442267.2 - 21 3549 c.3475G>C c.(3475-3477)Gac>Cac p.D1159H NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1159 intracellular calcium ion binding|Rab GTPase activator activity p.D1159H(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ATGGAGCTGTCGTCCTTGGTG 0.622000 36 49 0 0 0.000270559 0 0 AARS 16 broad.mit.edu 37 16 70305819 70305819 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr16:70305819C>T ENST00000261772.8 - 5 679 c.536G>A c.(535-537)gGt>gAt p.G179D NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 179 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding p.G179D(1) breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GCCCGTGTCACCCATCTCCCA 0.542000 29 53 0 0 0.000279167 0 0 KIF26B 55083 broad.mit.edu 37 1 245850296 245850296 + Silent SNP C C G rs114792430 by1000genomes TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:245850296C>G ENST00000366518.4 + 9 2972 c.2868C>G c.(2866-2868)ccC>ccG p.P956P KIF26B_ENST00000407071.2_Silent_p.P1337P Q2KJY2 KI26B_HUMAN kinesin family member 26B 1337 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.P1337P(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGCCAGCCCCGACAACTTGC 0.562000 3 20 0 0 6.4e-05 0 0 HIBCH 26275 broad.mit.edu 37 2 191109623 191109623 + Missense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:191109623T>A ENST00000392332.3 - 11 1020 c.881A>T c.(880-882)gAg>gTg p.E294V HIBCH_ENST00000410045.1_Missense_Mutation_p.E71V|HIBCH_ENST00000359678.5_Missense_Mutation_p.E294V Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 294 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding p.E294V(1) NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CTTCAATTGCTCTAGGGCAAA 0.398000 64 114 0 0 0.000147903 0 0 ZNF652 22834 broad.mit.edu 37 17 47390144 47390144 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:47390144G>C ENST00000362063.2 - 3 1282 c.964C>G c.(964-966)Cat>Gat p.H322D ZNF652_ENST00000430262.2_Missense_Mutation_p.H322D NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.H322D(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) GCATATCCATGGACGATCTTG 0.368000 4 66 0 0 1.23904e-05 0 0 SYT1 6857 broad.mit.edu 37 12 79689968 79689968 + Silent SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:79689968C>A ENST00000261205.4 + 7 1251 c.594C>A c.(592-594)gtC>gtA p.V198V SYT1_ENST00000393240.3_Silent_p.V198V|SYT1_ENST00000457153.2_Silent_p.V195V|SYT1_ENST00000552744.1_Silent_p.V198V NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 198 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.V198V(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 AGACAAAAGTCCACCGAAAAA 0.388000 27 55 1.12875e-08 2.83893e-07 0.000147802 1 0 HSPA4L 22824 broad.mit.edu 37 4 128753935 128753935 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr4:128753935C>A ENST00000296464.3 + 19 2837 c.2426C>A c.(2425-2427)cCa>cAa p.P809Q HSPA4L_ENST00000508776.1_Missense_Mutation_p.P809Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.P840Q|HSPA4L_ENST00000505726.1_Missense_Mutation_p.P783Q NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 809 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding p.P809Q(1) central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CACAATGGCCCAATGGATGGA 0.403000 8 113 0.000157383 0.00364379 0.000157383 1 0 EFCAB2 84288 broad.mit.edu 37 1 245250572 245250572 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:245250572G>C ENST00000366523.1 + 8 664 c.399G>C c.(397-399)atG>atC p.M133I EFCAB2_ENST00000487845.1_Intron|EFCAB2_ENST00000366522.2_Intron|EFCAB2_ENST00000447569.2_Intron NM_032328.3 NP_115704.1 Q5VUJ9 EFCB2_HUMAN EF-hand calcium binding domain 2 0 calcium ion binding p.M133I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2) 13 all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982) OV - Ovarian serous cystadenocarcinoma(106;0.015) AAGAGGAAATGGAAGAAATGT 0.313000 4 78 0 0 3.59834e-05 0 0 IGHV3-13 28449 broad.mit.edu 37 14 106586578 106586578 + RNA SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr14:106586578C>G ENST00000390602.2 - 0 89 CAGCTCAGCCCCAACTCCATG 0.488000 5 133 0 0 3.59834e-05 0 0 TARDBP 23435 broad.mit.edu 37 1 11080565 11080565 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:11080565G>C ENST00000240185.3 + 5 737 c.623G>C c.(622-624)cGg>cCg p.R208P TARDBP_ENST00000315091.3_Missense_Mutation_p.R208P|TARDBP_ENST00000439080.2_Missense_Mutation_p.R92P NM_007375.3 NP_031401.1 Q13148 TADBP_HUMAN TAR DNA binding protein 208 RRM 2. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity p.R208P(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2) 11 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) GATGAGCTGCGGGAGTTCTTC 0.468000 4 101 0 0 0.00024832 0 0 NUMA1 4926 broad.mit.edu 37 11 71733410 71733410 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:71733410C>G ENST00000393695.3 - 7 678 c.347G>C c.(346-348)tGg>tCg p.W116S NUMA1_ENST00000351960.6_Missense_Mutation_p.W116S|NUMA1_ENST00000358965.6_Missense_Mutation_p.W116S NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 116 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity p.W116S(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 AAACTGTTCCCAGTCCCTGGG 0.493000 T RARA APL 6 210 0 0 0.000274275 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43678849 43678849 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:43678849C>G ENST00000374466.3 + 8 1823 c.1488C>G c.(1486-1488)ccC>ccG p.P496P NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 496 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding p.P496P(1) endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGCTGACCCCCGAGCAGTACC 0.517000 4 170 0 0 3.59834e-05 0 0 ZXDB 158586 broad.mit.edu 37 X 57620752 57620752 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:57620752G>C ENST00000374888.1 + 1 2484 c.2271G>C c.(2269-2271)gcG>gcC p.A757A NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 757 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.A757A(1) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CAACCAAAGCGGAGTGGAACG 0.488000 3 34 0 0 6.4e-05 0 0 ASTN1 460 broad.mit.edu 37 1 177030282 177030282 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:177030282C>A ENST00000367654.2 - 2 416 c.403G>T c.(403-405)Gac>Tac p.D135Y ASTN1_ENST00000424564.2_Missense_Mutation_p.D135Y|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D135Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D135Y O14525 ASTN1_HUMAN astrotactin 1 135 cell migration|neuron cell-cell adhesion integral to membrane p.D135Y(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCAGTGGGGTCTTGTCCAGGA 0.542000 164 67 6.32397e-60 1.91417e-58 0.000147903 1 0 DLAT 1737 broad.mit.edu 37 11 111909992 111909992 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr11:111909992C>G ENST00000280346.6 + 7 1659 c.1000C>G c.(1000-1002)Cag>Gag p.Q334E DLAT_ENST00000393051.1_Missense_Mutation_p.Q229E|DLAT_ENST00000537636.1_Missense_Mutation_p.Q105E NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 334 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding p.Q334E(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) TCCAACTCCCCAGCCTTTAGC 0.443000 6 339 0 0 3.59834e-05 0 0 ACTR3C 653857 broad.mit.edu 37 7 149983460 149983460 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:149983460G>C ENST00000539352.1 - 5 718 c.467C>G c.(466-468)cCg>cGg p.P156R ACTR3C_ENST00000252071.4_Missense_Mutation_p.P156R NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 156 regulation of actin filament polymerization cytoskeleton actin binding|ATP binding p.P156R(1) CCTTACCTCCGGGTGAAAGAA 0.468000 4 160 0 0 1.23904e-05 0 0 S100A10 6281 broad.mit.edu 37 1 151955702 151955702 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:151955702C>G ENST00000368811.3 - 3 890 c.231G>C c.(229-231)gcG>gcC p.A77A S100A10_ENST00000368809.1_Silent_p.A77A NM_002966.2 NP_002957.1 P60903 S10AA_HUMAN S100 calcium binding protein A10 77 signal transduction calcium ion binding|receptor binding p.A77A(1) breast(1)|kidney(1)|lung(2)|ovary(2) 6 Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGGTGAGGCCCGCAATTAGGG 0.458000 6 185 0 0 8.12818e-05 0 0 CEP97 79598 broad.mit.edu 37 3 101477064 101477064 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr3:101477064C>G ENST00000341893.3 + 9 2366 c.1614C>G c.(1612-1614)ccC>ccG p.P538P CEP97_ENST00000327230.4_Silent_p.P538P|CEP97_ENST00000494050.1_Silent_p.P479P Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 538 CEP110 binding. centrosome|nucleus protein binding p.P538P(2) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 AGAAACTTCCCATGATTTTAA 0.413000 5 207 0 0 1.23904e-05 0 0 ATP8A2 51761 broad.mit.edu 37 13 26138096 26138096 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr13:26138096G>T ENST00000381655.2 + 16 1542 c.1400G>T c.(1399-1401)cGg>cTg p.R467L ATP8A2_ENST00000255283.8_Missense_Mutation_p.R427L NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 427 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R467L(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCTTACAGTCGGATGCCTCCT 0.413000 6 93 8.12818e-05 0.00190393 8.12818e-05 1 0 HOMER2 9455 broad.mit.edu 37 15 83544130 83544130 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:83544130C>T ENST00000304231.8 - 3 381 c.189G>A c.(187-189)ccG>ccA p.P63P HOMER2_ENST00000450735.2_Silent_p.P63P|HOMER2_ENST00000426485.1_Silent_p.P63P|HOMER2_ENST00000399166.2_Silent_p.P63P NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 63 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane p.P126P(1)|p.P63P(1) cervix(1)|endometrium(2)|lung(6) 9 AGGTCATATTCGGTGTGATTG 0.438000 24 36 0 0 0.00047179 0 0 AGAP6 414189 broad.mit.edu 37 10 51749117 51749117 + Silent SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr10:51749117G>A ENST00000412531.3 + 2 345 c.273G>A c.(271-273)caG>caA p.Q91Q AGAP6_ENST00000374056.4_Intron NM_001077665.2 NP_001071133.2 C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 91 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.Q91Q(1) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 CAATATTCCAGAGGAACTCTC 0.358000 8 122 0 0 3.86212e-05 0 0 ZNF454 285676 broad.mit.edu 37 5 178392340 178392340 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr5:178392340G>A ENST00000320129.3 + 5 1238 c.935G>A c.(934-936)aGg>aAg p.R312K ZNF454_ENST00000519564.1_Missense_Mutation_p.R312K NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R312K(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TTTGTGTGCAGGGCACACCTT 0.378000 49 16 0 0 0.000147903 0 0 WDR34 89891 broad.mit.edu 37 9 131403138 131403138 + Silent SNP C C T rs137886760 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:131403138C>T ENST00000372715.2 - 2 327 c.267G>A c.(265-267)acG>acA p.T89T NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 89 cytoplasm p.T89T(1) central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 CGGGGGCCTCCGTCTGCACCT 0.632000 17 28 0 0 7.07596e-05 0 0 F3 2152 broad.mit.edu 37 1 95005860 95005861 + Frame_Shift_Del DEL CA CA - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr1:95005860_95005861delCA ENST00000334047.7 - 2 327_328 c.164_165delTG c.(163-165)tfs p.L55fs F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Frame_Shift_Del_p.L55fs NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) 55 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) GTTCCCACTCCAAAATTGTCTT 0.356 41 272 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 140992354 140992354 + Splice_Site DEL C C - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr2:140992354delC ENST00000389484.3 - 90 14631 c.e90+1 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) tcttctctcaccccagcagtt 0.438 TSP Lung(27;0.18) 29 57 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149474054 149474054 + RNA DEL C C - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr7:149474054delC ENST00000378016.2 + 0 264 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAAGTGGAACCGGACAGTGA 0.642 20 66 --- --- --- --- SPATA31A6 389730 broad.mit.edu 37 9 43625677 43625677 + Frame_Shift_Del DEL C C - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr9:43625677delC ENST00000332857.6 - 4 3038 c.3010delG c.(3010-3012)agfs p.E1004fs NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTAACAACCTCCTCCATAAGA 0.512 4 6 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46205235 46205235 + Frame_Shift_Del DEL G G - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr12:46205235delG ENST00000334344.6 + 4 491 c.319delG c.(319-321)ggfs p.G107fs ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 107 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCATCATTTTGGGGAGGATGA 0.393 """N, S, F""" hepatocellular carcinoma 35 46 --- --- --- --- SNAP23 8773 broad.mit.edu 37 15 42820530 42820530 + Frame_Shift_Del DEL A A - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:42820530delA ENST00000249647.3 + 6 805 c.337delA c.(337-339)atfs p.N113fs SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000397138.1_Intron|SNAP23_ENST00000349777.1_Intron NM_003825.3 NP_003816.2 O00161 SNP23_HUMAN synaptosomal-associated protein, 23kDa 113 cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome protein binding large_intestine(1)|lung(1) 2 all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;2.62e-06) CTCACCTTGCAATGTAGTATC 0.463 43 69 --- --- --- --- SQRDL 58472 broad.mit.edu 37 15 45965969 45965969 + Frame_Shift_Del DEL C C - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr15:45965969delC ENST00000260324.7 + 5 1010 c.624delC c.(622-624)atfs p.I208fs RP11-96O20.4_ENST00000564080.1_Frame_Shift_Del_p.I208fs|SQRDL_ENST00000568606.1_Frame_Shift_Del_p.I208fs NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 208 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) CTCAGAAGATCATGTACTTAT 0.478 30 51 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578514 7578514 + Frame_Shift_Del DEL T T - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chr17:7578514delT ENST00000420246.2 - 5 548 c.416delA c.(415-417)agfs p.K139fs TP53_ENST00000359597.4_Frame_Shift_Del_p.K139fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K139fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K139fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K139fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K139fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 139 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.K139fs*9(2)|p.K139R(2)|p.K139fs*31(2)|p.N131fs*27(2)|p.K139T(1)|p.L137_W146del10(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGGCAGGTCTTGGCCAGTTG 0.562 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 11 --- --- --- --- ARHGAP6 395 broad.mit.edu 37 X 11157265 11157265 + Frame_Shift_Del DEL C C - TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:11157265delC ENST00000337414.4 - 13 3515 c.2643delG c.(2641-2643)ccfs p.P883fs ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Frame_Shift_Del_p.P680fs|ARHGAP6_ENST00000380736.1_Frame_Shift_Del_p.P680fs NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 883 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GGTATGGAGGCGGGGGCCGCT 0.706 2 4 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0176cf1d-0760-4769-a493-277f4bb7585e 1f8820d1-4a97-41b7-a4d8-be832c9e0575 g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 4 5 --- --- --- ---