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 KIAA1109 84162 broad.mit.edu 37 4 123229169 123229169 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:123229169C>A ENST00000264501.4 + 58 10280 c.9907C>A c.(9907-9909)Cat>Aat p.H3303N KIAA1109_ENST00000455637.1_Missense_Mutation_p.H3303N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H3303N Q2LD37 K1109_HUMAN KIAA1109 3303 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.H3303N(2) 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 AATGGCTTTACATAAGGATAT 0.413000 167 366 7.12906e-66 1.07443e-65 1 1 0 ADCK2 90956 broad.mit.edu 37 7 140380905 140380905 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:140380905G>C ENST00000072869.4 + 4 1451 c.1273G>C c.(1273-1275)Gca>Cca p.A425P ADCK2_ENST00000476491.1_Missense_Mutation_p.A425P NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 425 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity p.A425P(2) cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) AAGGAAGATTGCACGGCTGGG 0.567000 12 44 0 0 1 0 0 ZNF256 10172 broad.mit.edu 37 19 58452550 58452550 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:58452550G>T ENST00000282308.3 - 3 1822 c.1626C>A c.(1624-1626)acC>acA p.T542T ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 542 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) GCCTTTCTCCGGTGTGACTTC 0.463000 11 99 0.00829132 0.00839694 1 1 0 F8 2157 broad.mit.edu 37 X 154158393 154158393 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:154158393G>T ENST00000360256.4 - 14 3872 c.3672C>A c.(3670-3672)atC>atA p.I1224I NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1224 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.I1224I(4) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATTCTCTTGGATTAATGTTT 0.313000 59 143 4.96213e-28 6.52049e-28 1 1 0 MAP7D3 79649 broad.mit.edu 37 X 135318499 135318499 + Splice_Site SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:135318499C>A ENST00000316077.9 - 7 861 c.e7-1 MAP7D3_ENST00000370661.1_Splice_Site|MAP7D3_ENST00000370663.5_Splice_Site NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 cytoplasm|spindle p.?(1) central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TCTGTTTTCCCTAGAGAGCAA 0.353000 50 96 4.25531e-23 5.45641e-23 1 1 0 NTRK1 4914 broad.mit.edu 37 1 156845459 156845459 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:156845459G>T ENST00000368196.3 + 11 1603 c.e11+1 NTRK1_ENST00000524377.1_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site|NTRK1_ENST00000358660.3_Splice_Site NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.?(4) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGTGATGCCTGTGAGGGGCTA 0.577000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 25 39 4.87955e-14 5.7684e-14 1 1 0 CFAP54 144535 broad.mit.edu 37 12 97051666 97051666 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:97051666G>C ENST00000524981.3 + 4 460 c.460G>C c.(460-462)Gaa>Caa p.E154Q Q6ZTY8 CL063_HUMAN 128 p.E128Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GCAGCCTATTGAAGACAAAGG 0.323000 15 490 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134261164 134261164 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:134261164C>A ENST00000457545.2 + 9 1067 c.807C>A c.(805-807)caC>caA p.H269Q AKR1B15_ENST00000423958.1_Missense_Mutation_p.H241Q NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 269 oxidoreductase activity p.H269Q(2)|p.H241Q(2)|p.H287Q(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CTGCAAAGCACAAAAAAACCA 0.443000 9 71 0.010729 0.0108312 1 1 0 C3orf27 23434 broad.mit.edu 37 3 128292256 128292256 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:128292256T>C ENST00000356020.2 - 3 1283 c.317A>G c.(316-318)cAc>cGc p.H106R NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 106 p.H106R(2) large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) AGGCCCACAGTGGCACAGCAG 0.577000 35 68 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695897 64695897 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:64695897G>T ENST00000164133.2 + 6 1344 c.722_splice c.e6+1 p.R241_splice NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 241 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.R241L(2) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 ATCTTCCTCCGGTGAGTGGCT 0.607000 18 58 5.35356e-11 6.1019e-11 1 1 0 FAT3 120114 broad.mit.edu 37 11 92623916 92623916 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:92623916C>A ENST00000298047.6 + 27 13424 c.13407C>A c.(13405-13407)tcC>tcA p.S4469S FAT3_ENST00000533797.1_Silent_p.S772S|FAT3_ENST00000525166.1_Silent_p.S4319S|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Silent_p.S4437S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4469 Pro-rich. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.S1044S(2)|p.S4437S(2)|p.S4469S(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGCCACCCTCCCAGCCTGTCT 0.592000 TCGA Ovarian(4;0.039) 10 16 5.50884e-06 5.87856e-06 1 1 0 SH3PXD2A 9644 broad.mit.edu 37 10 105361828 105361828 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:105361828C>G ENST00000369774.4 - 15 3423 c.3147G>C c.(3145-3147)caG>caC p.Q1049H SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q884H|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q1021H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q916H Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 1049 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding p.Q1021H(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TGCTGTTGCGCTGGGCGGGCA 0.622000 35 50 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394679 64394679 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:64394679T>C ENST00000262043.3 + 4 1396 c.1056T>C c.(1054-1056)aaT>aaC p.N352N PHF3_ENST00000393387.1_Silent_p.N352N|PHF3_ENST00000509330.1_Silent_p.N352N Q92576 PHF3_HUMAN PHD finger protein 3 352 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding p.N352N(1) breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CTTGTACAAATCCAAATAAGA 0.373000 8 174 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110496262 110496262 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:110496262A>G ENST00000324068.1 - 4 647 c.480T>C c.(478-480)aaT>aaC p.N160N CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 160 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding p.N160N(2) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCAGCAGAGCATTCCAAAACT 0.428000 138 291 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81049602 81049602 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:81049602G>A ENST00000334512.5 + 9 1068 c.496G>A c.(496-498)Gtg>Atg p.V166M ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 166 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding p.V166M(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTCCCTTTCCGTGGTCACCAC 0.577000 11 128 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150057694 150057694 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:150057694T>C ENST00000340413.2 - 6 779 c.703A>G c.(703-705)Act>Gct p.T235A NUP43_ENST00000367404.4_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.T235A|NUP43_ENST00000367403.3_3'UTR NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 235 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.T235A(2) 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) TGGCCACCAGTAGCTACAACA 0.438000 33 99 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357646 118357646 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:118357646C>T ENST00000528052.1 + 8 853 c.782C>T c.(781-783)tCt>tTt p.S261F PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S261F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S261F P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 261 lipid metabolic process calcium ion binding|triglyceride lipase activity p.S261F(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AATGCCCTGTCTCAGATCGTG 0.527000 16 37 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50092041 50092041 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:50092041T>C ENST00000371564.3 - 4 1708 c.1489A>G c.(1489-1491)Aaa>Gaa p.K497E NFATC2_ENST00000396009.3_Missense_Mutation_p.K497E|NFATC2_ENST00000414705.1_Missense_Mutation_p.K477E NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 497 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.K497E(2) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCCAGGACTTTGGTGTTGCCC 0.572000 114 109 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011313 105011313 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:105011313G>A ENST00000372582.1 + 11 2476 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E574K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E179K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 574 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity p.E574K(2) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGACTCCGCAGAACAAGGACT 0.438000 92 162 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31864557 31864557 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:31864557C>A ENST00000396184.3 - 14 1534 c.1330G>T c.(1330-1332)Gac>Tac p.D444Y PDE1C_ENST00000396182.2_Missense_Mutation_p.D444Y|PDE1C_ENST00000396191.1_Missense_Mutation_p.D444Y|PDE1C_ENST00000321453.7_Missense_Mutation_p.D444Y|PDE1C_ENST00000396193.1_Missense_Mutation_p.D504Y NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 444 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.D444Y(2)|p.D504Y(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TCGGTCATGTCCGTAAGCACA 0.488000 129 308 6.69235e-45 9.71765e-45 1 1 0 NRK 203447 broad.mit.edu 37 X 105132286 105132286 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:105132286G>T ENST00000428173.2 + 5 555 c.e5-1 NRK_ENST00000536164.1_Splice_Site|NRK_ENST00000243300.9_Splice_Site Q7Z2Y5 NRK_HUMAN Nik related kinase ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.?(4) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TTATTCCATAGGATGAGGAAG 0.398000 HNSCC(51;0.14) 21 30 2.89027e-11 3.30613e-11 1 1 0 SMG1 23049 broad.mit.edu 37 16 18823123 18823123 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:18823123C>A ENST00000446231.2 - 62 11280 c.10868G>T c.(10867-10869)cGa>cTa p.R3623L RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R3624L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3623 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.R3619L(2)|p.R3623L(2) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ATCAACATCTCGGCCCTCTAA 0.443000 504 924 2.09999e-105 3.33898e-105 1 1 0 AGMO 392636 broad.mit.edu 37 7 15601381 15601381 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:15601381G>C ENST00000342526.3 - 1 259 c.90C>G c.(88-90)ttC>ttG p.F30L NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 30 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding p.F30L(2) breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CTAATGTTTGGAATGAAGTTT 0.403000 104 188 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811180 5811180 + Missense_Mutation SNP C C G rs4017999 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:5811180C>G ENST00000381095.3 - 6 2756 c.2129G>C c.(2128-2130)cGc>cCc p.R710P NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710P NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 710 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.R710P(2) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGGACTGGGGCGCCTGTGAGT 0.532000 45 62 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104709469 104709469 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:104709469G>C ENST00000406091.3 + 2 332 c.332G>C c.(331-333)tGc>tCc p.C111S NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 142 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.C111S(2)|p.C147S(2) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGTTCATATTGCCAAACAAAG 0.423000 HNSCC(12;0.0054) 317 1133 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899874 151899874 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:151899874A>G ENST00000393900.3 - 3 1280 c.927T>C c.(925-927)ttT>ttC p.F309F MAGEA12_ENST00000357916.4_Silent_p.F309F|MAGEA12_ENST00000393869.3_Silent_p.F309F|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 309 p.F309F(2) breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCCCCTCTCTAAAAGCCCATT 0.557000 185 372 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72038818 72038818 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:72038818T>A ENST00000378743.3 - 4 1476 c.1118A>T c.(1117-1119)cAg>cTg p.Q373L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 373 RNA processing intracellular metal ion binding p.Q373L(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AAGGCGAAGCTGTAATTCAGA 0.333000 19 49 0 0 1 0 0 TIFAB 497189 broad.mit.edu 37 5 134785501 134785501 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:134785501G>T ENST00000537858.1 - 2 329 c.129C>A c.(127-129)gaC>gaA p.D43E NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 43 FHA. p.D43E(2) breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGGTGGGCGTCCTGCCCCC 0.657000 14 8 8.04996e-18 9.92204e-18 1 1 0 PSG8 440533 broad.mit.edu 37 19 43359723 43359723 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:43359723C>A ENST00000401467.2 - 1 120 c.49G>T c.(49-51)Ggg>Tgg p.G17W PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 17 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AGCAGGACCCCCTTCCATTTG 0.572000 104 85 9.88213e-40 1.39049e-39 1 1 0 CNTN6 27255 broad.mit.edu 37 3 1427297 1427297 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:1427297C>A ENST00000446702.2 + 20 3147 c.2520C>A c.(2518-2520)gtC>gtA p.V840V CNTN6_ENST00000350110.2_Silent_p.V840V|CNTN6_ENST00000539053.1_Silent_p.V768V Q9UQ52 CNTN6_HUMAN contactin 6 840 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.V840V(2) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTATCAGGTCTTATACTGGA 0.358000 32 197 3.28013e-08 3.59683e-08 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151162731 151162731 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:151162731T>A ENST00000282466.3 - 4 5037 c.5038A>T c.(5038-5040)Att>Ttt p.I1680F NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1680 Ig-like C2-type 3. cell differentiation|multicellular organismal development|ossification extracellular region p.I1680F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTCCAATGAATGGTGGGCAGG 0.398000 9 111 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175763780 175763780 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:175763780C>A ENST00000443967.1 + 10 2579 c.2172C>A c.(2170-2172)atC>atA p.I724I SIMC1_ENST00000430704.2_Silent_p.I309I|SIMC1_ENST00000341199.6_Silent_p.I309I|SIMC1_ENST00000332772.4_Silent_p.I185I SUMO-interacting motifs containing 1 p.I724I(2) TGTTAGAAATCATATTCCTCC 0.483000 134 64 5.80039e-70 8.91074e-70 1 1 0 MAST1 22983 broad.mit.edu 37 19 12951309 12951309 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:12951309A>T ENST00000251472.4 + 2 172 c.133A>T c.(133-135)Acg>Tcg p.T45S MAST1_ENST00000591495.1_Missense_Mutation_p.T41S NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 45 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.T45S(2) NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CACTTCACCCACGCTACCGAG 0.662000 3 7 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19955796 19955796 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:19955796C>A ENST00000396085.1 + 7 2367 c.2006C>A c.(2005-2007)aCt>aAt p.T669N NAV2_ENST00000396087.3_Missense_Mutation_p.T692N|NAV2_ENST00000360655.4_Missense_Mutation_p.T605N|NAV2_ENST00000527559.2_Missense_Mutation_p.T621N|NAV2_ENST00000540292.1_Missense_Mutation_p.T623N|NAV2_ENST00000349880.4_Missense_Mutation_p.T669N NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 692 nucleus ATP binding|helicase activity p.T692N(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATCCCAACACTGCCACGGTT 0.552000 40 88 1.465e-08 1.61761e-08 1 1 0 HAUS4 54930 broad.mit.edu 37 14 23421768 23421768 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:23421768T>C ENST00000206474.7 - 3 432 c.180A>G c.(178-180)ctA>ctG p.L60L HAUS4_ENST00000555367.1_Silent_p.L60L|HAUS4_ENST00000397409.4_Silent_p.L60L|HAUS4_ENST00000347758.2_Silent_p.L60L|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Silent_p.L60L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000541587.1_Silent_p.L60L|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000555986.1_Silent_p.L60L Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 60 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle p.L60L(2) breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 GCTCCTTTGCTAGGGTGAGGC 0.468000 38 84 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34312507 34312507 + Silent SNP G G A rs143306375 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:34312507G>A ENST00000373381.4 - 6 1187 c.1011C>T c.(1009-1011)cgC>cgT p.R337R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 297 integral to membrane|plasma membrane protein binding p.R297R(2) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACTGAATCCGCGCTGCCGGT 0.607000 286 100 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156347121 156347121 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:156347121G>A ENST00000400992.2 + 3 378 c.10G>A c.(10-12)Gtg>Atg p.V4M RHBG_ENST00000451864.2_Missense_Mutation_p.V4M|RHBG_ENST00000368246.2_Missense_Mutation_p.V73M|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Missense_Mutation_p.V4M|RHBG_ENST00000368249.1_Missense_Mutation_p.V73M Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 73 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.V73M(2)|p.V4M(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CATGGTCTTCGTGGGCTTTGG 0.627000 5 185 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131186710 131186710 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:131186710G>A ENST00000337057.3 - 17 2976 c.2795C>T c.(2794-2796)tCc>tTc p.S932F EPB41L2_ENST00000524581.1_Missense_Mutation_p.S310F|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S932F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S674F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S674F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S738F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S633F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S779F|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Missense_Mutation_p.S53F NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 932 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity p.S932F(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGTTGACACGGACTCAGATGT 0.458000 16 637 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47699995 47699995 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr21:47699995T>C ENST00000397708.1 - 5 1833 c.1579A>G c.(1579-1581)Agc>Ggc p.S527G MCM3AP_ENST00000291688.1_Missense_Mutation_p.S527G O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 527 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding p.S527G(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GTGCTCGGGCTGACTTCACCG 0.532000 35 76 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129264072 129264072 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:129264072G>A ENST00000287295.3 - 15 1873 c.1643C>T c.(1642-1644)cCg>cTg p.P548L AIFM1_ENST00000460436.2_Missense_Mutation_p.P209L|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.P196L|AIFM1_ENST00000319908.3_Missense_Mutation_p.P544L|AIFM1_ENST00000346424.2_Missense_Mutation_p.P261L NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 548 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.P544L(2)|p.P548L(2) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 TGGAACTGCCGGGGTGCTGGG 0.542000 158 283 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141259374 141259374 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:141259374G>T ENST00000286364.3 + 5 485 c.e5-1 RASA2_ENST00000452898.1_Splice_Site Q15283 RASA2_HUMAN RAS p21 protein activator 2 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.?(4) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TGTCATTATAGGGTAAAGTTC 0.328000 65 100 7.31121e-38 1.01527e-37 1 1 0 GABRA5 2558 broad.mit.edu 37 15 27128556 27128556 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:27128556C>T ENST00000335625.5 + 6 1237 c.349C>T c.(349-351)Cgc>Tgc p.R117C GABRA5_ENST00000355395.5_Missense_Mutation_p.R117C|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R117C|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 117 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R117C(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCCCATGCAGCGCCTCCCTCT 0.537000 56 88 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196636546 196636546 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:196636546C>A ENST00000312428.6 - 61 11371 c.11271G>T c.(11269-11271)ttG>ttT p.L3757F DNAH7_ENST00000409063.1_Missense_Mutation_p.L240F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3757 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L3757F(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 GAAGTTTGCCCAAGATGTCAC 0.443000 548 338 1.0624e-194 1.75048e-194 1 1 0 BNC1 646 broad.mit.edu 37 15 83926569 83926569 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:83926569G>A ENST00000345382.2 - 5 2695 c.2610C>T c.(2608-2610)agC>agT p.S870S BNC1_ENST00000569704.1_Silent_p.S863S|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 870 Ser-rich. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S870S(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AGGAAGAATGGCTGCTACTCT 0.572000 12 247 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119659495 119659495 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:119659495C>A ENST00000379735.5 - 19 2691 c.2420G>T c.(2419-2421)cGg>cTg p.R807L SEC24D_ENST00000419654.2_Missense_Mutation_p.R362L|SEC24D_ENST00000280551.6_Missense_Mutation_p.R806L|SEC24D_ENST00000429811.2_Missense_Mutation_p.R362L|SEC24D_ENST00000511481.1_Missense_Mutation_p.R437L|SEC24D_ENST00000505134.1_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 806 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.R806L(2) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TAGAATTTCCCGGATGACCTT 0.423000 103 222 1.56001e-33 2.12911e-33 1 1 0 DDX49 54555 broad.mit.edu 37 19 19033422 19033422 + Silent SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:19033422C>T ENST00000438170.2 + 7 736 c.324C>T c.(322-324)acC>acT p.T108T DDX49_ENST00000247003.4_Silent_p.T215T|DDX49_ENST00000599156.1_Intron|AC002985.3_ENST00000596918.1_Intron Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 215 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding p.T215T(2) breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 18 Epithelial(12;0.0289) GGGTGAGCACCGTGGAGCAGC 0.637000 6 21 0 0 1 0 0 EMC1 23065 broad.mit.edu 37 1 19564614 19564614 + Missense_Mutation SNP T T C rs144675935 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:19564614T>C ENST00000477853.1 - 11 1151 c.1109A>G c.(1108-1110)aAt>aGt p.N370S EMC1_ENST00000375199.3_Missense_Mutation_p.N369S|EMC1_ENST00000375208.3_Missense_Mutation_p.N348S|RP1-43E13.2_ENST00000437898.1_RNA NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 p.N370S(2) GTAGGTCTGATTGAAGCAAGC 0.547000 17 75 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977623 107977623 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:107977623C>G ENST00000372129.2 - 1 2028 c.1952G>C c.(1951-1953)gGa>gCa p.G651A NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 651 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.G651A(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TCTGAATCTTCCCCCAGACTT 0.493000 8 228 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39454487 39454487 + Nonsense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr13:39454487C>T ENST00000280481.7 + 24 9289 c.9073C>T c.(9073-9075)Cga>Tga p.R3025* NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 3025 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.R3025*(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAATGCCAATCGAGGTATTGG 0.448000 4 133 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65420411 65420411 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:65420411C>T ENST00000519389.1 + 12 2235 c.2056C>T c.(2056-2058)Ccc>Tcc p.P686S HEPH_ENST00000441993.2_Missense_Mutation_p.P635S|HEPH_ENST00000374727.3_Missense_Mutation_p.P635S|HEPH_ENST00000343002.2_Missense_Mutation_p.P632S|HEPH_ENST00000336279.5_Missense_Mutation_p.P365S|HEPH_ENST00000419594.1_Intron Q9BQS7 HEPH_HUMAN hephaestin 632 Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.P632S(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CTCTAACCTGCCCAGGCTGGA 0.547000 28 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071071 9071071 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:9071071G>T ENST00000397910.4 - 3 16578 c.16375C>A c.(16375-16377)Ctg>Atg p.L5459M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5461 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L5459M(4)|p.L1092M(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 GTGTCCCCCAGGGTGGAGGTG 0.498000 175 422 3.46395e-70 5.34727e-70 1 1 0 MKI67 4288 broad.mit.edu 37 10 129904904 129904904 + Nonsense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:129904904T>A ENST00000368654.3 - 13 5575 c.5200A>T c.(5200-5202)Aaa>Taa p.K1734* MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1374* NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1734 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding p.K1734*(2) 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) TAGGATACTTTGGTAGTTTTT 0.488000 49 80 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47107098 47107098 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:47107098G>T ENST00000377107.2 + 20 2979 c.2625_splice c.e20+1 p.E875_splice USP11_ENST00000218348.3_Splice_Site_p.E918_splice P51784 UBP11_HUMAN ubiquitin specific peptidase 11 918 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.E918D(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 ATCAGATCGAGGTGTGACTTC 0.537000 73 135 2.97807e-44 4.30466e-44 1 1 0 CYP4F22 126410 broad.mit.edu 37 19 15651310 15651310 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:15651310G>T ENST00000269703.2 + 8 920 c.721G>T c.(721-723)Gtc>Ttc p.V241F CYP4F22_ENST00000601005.2_Missense_Mutation_p.V241F NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 241 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.V241F(2) endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CGCTCTGTCTGTCCGGCGCCA 0.557000 30 80 1.36615e-20 1.71713e-20 1 1 0 MTR 4548 broad.mit.edu 37 1 237052487 237052487 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:237052487C>T ENST00000366577.5 + 28 3252 c.2858C>T c.(2857-2859)cCc>cTc p.P953L MTR_ENST00000535889.1_Missense_Mutation_p.P902L NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 953 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.P953L(2) 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) GTAGTGAAGCCCACGTTTATT 0.557000 53 145 0 0 1 0 0 PRKAA1 5562 broad.mit.edu 37 5 40798230 40798230 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:40798230C>A ENST00000397128.2 - 1 70 c.62G>T c.(61-63)cGg>cTg p.R21L PRKAA1_ENST00000296800.4_Missense_Mutation_p.R12L|PRKAA1_ENST00000354209.3_Missense_Mutation_p.R21L NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 21 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding p.R21L(2) breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) GATCTTCACCCGCCCGTCGTG 0.667000 12 20 9.7654e-05 0.000101484 1 1 0 B4GALNT1 2583 broad.mit.edu 37 12 58023958 58023958 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:58023958T>C ENST00000341156.4 - 6 1273 c.689A>G c.(688-690)tAc>tGc p.Y230C B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Y175C NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 230 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.Y230C(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GTTGGTCTGGTAGCTTCGGCT 0.572000 38 100 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37126007 37126007 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:37126007G>T ENST00000262879.6 + 4 685 c.401G>T c.(400-402)gGt>gTt p.G134V RALGAPB_ENST00000397042.3_Missense_Mutation_p.G134V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.G134V Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 134 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.G134V(2) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGGAACAGGGTTCCAGTCAG 0.498000 38 18 1.23713e-20 1.56114e-20 1 1 0 TULP3 7289 broad.mit.edu 37 12 3042678 3042678 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:3042678G>A ENST00000448120.2 + 7 842 c.791G>A c.(790-792)aGt>aAt p.S264N TULP3_ENST00000397132.2_Missense_Mutation_p.S264N NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 264 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding p.S264N(1) endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GAAGGAGAAAGTTATGTCGGC 0.398000 6 147 0 0 1 0 0 EXOSC7 23016 broad.mit.edu 37 3 45038682 45038682 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:45038682G>T ENST00000265564.7 + 4 406 c.358G>T c.(358-360)Gac>Tac p.D120Y EXOSC7_ENST00000461361.1_3'UTR NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 120 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding p.D120Y(2) endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) AAGCAGTGTCGACTTAAAGAC 0.488000 56 137 4.1673e-28 5.49877e-28 1 1 0 PCDH19 57526 broad.mit.edu 37 X 99551355 99551355 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:99551355G>T ENST00000373034.4 - 6 5042 c.3367C>A c.(3367-3369)Cat>Aat p.H1123N PCDH19_ENST00000420881.2_Missense_Mutation_p.H1075N|PCDH19_ENST00000255531.7_Missense_Mutation_p.H1076N NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1123 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H1123N(1)|p.H576N(1) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CTGACCTCATGCATGACTTTC 0.527000 289 540 5.121e-155 8.35117e-155 1 1 0 TLR6 10333 broad.mit.edu 37 4 38831004 38831004 + Nonsense_Mutation SNP C C A rs138225547 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:38831004C>A ENST00000436693.2 - 2 210 c.91G>T c.(91-93)Gga>Tga p.G31* TLR6_ENST00000381950.1_Nonsense_Mutation_p.G31* NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 31 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.G31*(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AATTCATTTCCGTCGGAGAAC 0.373000 64 149 1.20873e-29 1.61503e-29 1 1 0 FLNC 2318 broad.mit.edu 37 7 128496848 128496848 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:128496848C>A ENST00000325888.8 + 45 7695 c.7434C>A c.(7432-7434)atC>atA p.I2478I RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2445I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2478 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.I2478I(2) 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 TCCACTCCATCGATGTCAAGT 0.592000 24 29 4.3181e-19 5.38492e-19 1 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821138 5821138 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:5821138C>A ENST00000381095.3 - 5 2208 c.1581G>T c.(1579-1581)tgG>tgT p.W527C NLGN4X_ENST00000381092.1_Missense_Mutation_p.W527C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.W527C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.W547C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.W527C NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 527 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.W527C(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 CGAAGTTCGTCCAGTAGGTCA 0.502000 8 169 3.86212e-05 4.03998e-05 1 1 0 DSC2 1824 broad.mit.edu 37 18 28663009 28663009 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr18:28663009C>A ENST00000280904.6 - 8 1403 c.960G>T c.(958-960)caG>caT p.Q320H DSC2_ENST00000251081.6_Missense_Mutation_p.Q320H NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 320 Cadherin 2. homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.Q320H(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTATTTTCAACTGGTACTTGT 0.299000 11 59 0.00010058 0.000104184 1 1 0 GABBR2 9568 broad.mit.edu 37 9 101235551 101235551 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:101235551C>A ENST00000259455.2 - 6 1335 c.876G>T c.(874-876)caG>caT p.Q292H GABBR2_ENST00000477471.1_5'UTR NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 292 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.Q292H(2) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CCGTGTGCACCTGCTCCCACC 0.537000 62 56 4.66136e-34 6.41694e-34 1 1 0 CDH23 64072 broad.mit.edu 37 10 73270728 73270728 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:73270728C>A ENST00000224721.6 + 4 311 c.306C>A c.(304-306)acC>acA p.T102T CDH23_ENST00000461841.3_Silent_p.T147T|CDH23_ENST00000398842.3_Silent_p.T102T|CDH23_ENST00000398809.4_Silent_p.T102T|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000299366.7_Silent_p.T147T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 102 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.T102T(4) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGAGTTCACCGTGGAGTTCT 0.617000 23 45 2.61193e-14 3.09923e-14 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113988081 113988081 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:113988081C>A ENST00000297405.5 - 7 1571 c.1327G>T c.(1327-1329)Gtt>Ttt p.V443F CSMD3_ENST00000343508.3_Missense_Mutation_p.V403F|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V443F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 443 integral to membrane|plasma membrane p.V403F(2)|p.V443F(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 TGAGTAACAACTGCAAGCTCT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 55 155 2.20561e-19 2.76136e-19 1 1 0 C10orf71 118461 broad.mit.edu 37 10 50531828 50531828 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:50531828C>T ENST00000374144.3 + 3 1526 c.1238C>T c.(1237-1239)aCa>aTa p.T413I C10orf71_ENST00000323868.4_Missense_Mutation_p.T413I Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 413 p.T413I(2) endometrium(1) 1 CCTTTGTATACAAAACACAAC 0.438000 7 155 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12976793 12976793 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:12976793G>T ENST00000251472.4 + 17 1945 c.e17-1 NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.?(2) NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TTCCGTCCCAGGCGGCGCTTT 0.652000 6 8 5.18039e-06 5.58429e-06 1 1 0 OR2T10 127069 broad.mit.edu 37 1 248757058 248757058 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248757058G>T ENST00000330500.2 - 1 42 c.12C>A c.(10-12)gcC>gcA p.A4A NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A4A(2) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) GGGTCTGGTTGGCCAGCCGCA 0.458000 43 88 1.5731e-28 2.08436e-28 1 1 0 OTUD7B 56957 broad.mit.edu 37 1 149915924 149915924 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:149915924C>A ENST00000369135.3 - 12 2658 c.2364G>T c.(2362-2364)tgG>tgT p.W788C NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 788 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding p.W788C(2) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GACCTCCAGCCCATCCATCTG 0.547000 102 223 1.44786e-46 2.11202e-46 1 1 0 EPX 8288 broad.mit.edu 37 17 56270454 56270454 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:56270454G>C ENST00000225371.5 + 2 242 c.132G>C c.(130-132)aaG>aaC p.K44N NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 44 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding p.K44N(2) breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CAGAGGCCAAGTTGCTGGTGG 0.617000 121 244 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55361675 55361675 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:55361675C>A ENST00000290552.7 + 4 1923 c.591C>A c.(589-591)ttC>ttA p.F197L RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 197 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F197L(2) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCACCTGGTTCGCCAACGCAC 0.577000 21 48 1.96895e-08 2.16652e-08 1 1 0 IDS 3423 broad.mit.edu 37 X 148564704 148564704 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:148564704G>A ENST00000340855.6 - 9 1435 c.1226C>T c.(1225-1227)aCg>aTg p.T409M IDS_ENST00000537071.1_Missense_Mutation_p.T12M|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Missense_Mutation_p.T198M NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 409 lysosome iduronate-2-sulfatase activity|metal ion binding p.T409M(2) NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCAGCCAGCGTGGGAAAAAG 0.512000 47 155 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89920950 89920950 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:89920950G>T ENST00000405460.2 + 6 658 c.562G>T c.(562-564)Gag>Tag p.E188* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 188 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.E188*(2) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGCAGGTAGAGGGTGGCCC 0.393000 37 15 3.38236e-24 4.37232e-24 1 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64133210 64133210 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:64133210G>T ENST00000295902.6 - 7 1541 c.956C>A c.(955-957)tCt>tAt p.S319Y PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S375Y NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 319 cytoplasm|nuclear membrane zinc ion binding p.S319Y(2) breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGAGGAGTCAGAACCATTGGG 0.607000 22 113 4.7796e-09 5.37072e-09 1 1 0 OR14I1 401994 broad.mit.edu 37 1 248845133 248845133 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248845133G>T ENST00000342623.3 - 1 496 c.473C>A c.(472-474)aCt>aAt p.T158N NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T158N(2) NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CATGTTGCCAGTGTGGACGGC 0.547000 26 64 1.2476e-16 1.52006e-16 1 1 0 KRT3 3850 broad.mit.edu 37 12 53189527 53189527 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:53189527G>T ENST00000417996.2 - 1 374 c.300C>A c.(298-300)ggC>ggA p.G100G KRT3_ENST00000309505.3_Silent_p.G100G NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 100 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.G100G(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 cacctccatagccgctcccaa 0.652000 9 15 2.52707e-12 2.91162e-12 1 1 0 BPI 671 broad.mit.edu 37 20 36964032 36964032 + Missense_Mutation SNP C C A rs143433981 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:36964032C>A ENST00000262865.4 + 14 1470 c.1381C>A c.(1381-1383)Ccg>Acg p.P461T BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 461 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding p.P461T(2) kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTCCCGACGCCGGCCAGAGT 0.562000 98 98 2.52272e-32 3.38492e-32 1 1 0 SOX30 11063 broad.mit.edu 37 5 157053465 157053465 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:157053465G>A ENST00000265007.6 - 5 2486 c.2145C>T c.(2143-2145)gaC>gaT p.D715D SOX30_ENST00000519442.1_Silent_p.D410D|SOX30_ENST00000311371.5_3'UTR NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 715 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity p.D715D(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGTTCCAATGTCCAGCTGAG 0.453000 6 170 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57960335 57960335 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:57960335A>G ENST00000216445.3 - 1 235 c.99T>C c.(97-99)ttT>ttC p.F33F C14orf105_ENST00000526336.1_Silent_p.F33F|C14orf105_ENST00000534126.1_Silent_p.F33F|C14orf105_ENST00000422976.2_Silent_p.F33F NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 33 p.F33F(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 GATTGAATGCAAAGTCCACAC 0.463000 96 225 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729409 62729409 + Missense_Mutation SNP C C A rs148381492 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:62729409C>A ENST00000349451.3 + 5 900 c.488C>A c.(487-489)aCg>aAg p.T163K OPRL1_ENST00000336866.2_Missense_Mutation_p.T163K|OPRL1_ENST00000355631.4_Missense_Mutation_p.T163K NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 163 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity p.T163K(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GACGTCCGCACGTCCAGCAAA 0.587000 3 10 0.004672 0.00474663 1 1 0 MYPN 84665 broad.mit.edu 37 10 69882001 69882001 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:69882001C>T ENST00000358913.5 + 2 1294 c.806C>T c.(805-807)cCc>cTc p.P269L MYPN_ENST00000373675.3_Missense_Mutation_p.P269L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P269L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 269 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding p.P269L(2) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGGCAACCTCCCCGGTTCACT 0.527000 19 93 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55716908 55716908 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:55716908G>T ENST00000376350.3 - 4 427 c.405C>A c.(403-405)atC>atA p.I135I PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 135 Fibronectin type-III 2. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.I135I(2) breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGGTCAGGGCGATGGAGCTGT 0.587000 25 18 3.28513e-13 3.82663e-13 1 1 0 STX18 53407 broad.mit.edu 37 4 4458978 4458978 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:4458978C>G ENST00000306200.2 - 5 500 c.437G>C c.(436-438)tGt>tCt p.C146S STX18_ENST00000505286.1_Missense_Mutation_p.C146S NM_016930.2 NP_058626.1 Q9P2W9 STX18_HUMAN syntaxin 18 146 ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity p.C146S(2) large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) GTAAAGTTTACATACTCCTGT 0.353000 51 147 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080061 54080061 + Missense_Mutation SNP T T C rs146144933 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:54080061T>C ENST00000253144.9 + 7 1580 c.247T>C c.(247-249)Tgg>Cgg p.W83R ZNF331_ENST00000511154.1_Missense_Mutation_p.W83R|ZNF331_ENST00000511593.2_Missense_Mutation_p.W83R|ZNF331_ENST00000513999.1_Missense_Mutation_p.W83R|ZNF331_ENST00000513265.1_Missense_Mutation_p.W83R|ZNF331_ENST00000411977.2_Missense_Mutation_p.W83R|ZNF331_ENST00000512387.1_Missense_Mutation_p.W83R|ZNF331_ENST00000449416.1_Missense_Mutation_p.W83R NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.W83R(1) NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TGGCCGTAACTGGATATGTGA 0.393000 T ? follicular thyroid adenoma 3 49 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538029 42538029 + RNA SNP A A G rs1058167 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:42538029A>G ENST00000433992.1 - 0 803 CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 TGGGATGTGCAGGAGGACGGG 0.592000 4 83 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124731954 124731954 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:124731954G>A ENST00000311127.4 - 6 2536 c.2469C>T c.(2467-2469)tcC>tcT p.S823S NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 823 extracellular region|integral to membrane calcium ion binding p.S823S(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TTTGCTCTGTGGAGGACTCTG 0.478000 62 125 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137722285 137722285 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:137722285G>A ENST00000314358.5 + 7 1555 c.1355G>A c.(1354-1356)gGc>gAc p.G452D KDM3B_ENST00000394866.1_Missense_Mutation_p.G108D|KDM3B_ENST00000542866.1_5'UTR NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 452 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.G452D(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAACAGAAAGGCAGCCGGTCG 0.527000 30 77 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144855788 144855788 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:144855788C>A ENST00000369359.4 - 44 7211 c.7173G>T c.(7171-7173)tgG>tgT p.W2391C PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W2340C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W2149C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W2255C Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2255 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.W2255C(4) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGGCCGCTCTCCAGAACATGG 0.582000 T PDGFRB MPD 26 95 9.39395e-14 1.09826e-13 1 1 0 OR2T2 401992 broad.mit.edu 37 1 248616139 248616139 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248616139T>G ENST00000342927.3 + 1 63 c.41T>G c.(40-42)gTc>gGc p.V14G NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V14S(2)|p.V14A(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) ACTAACTTCGTCCTCACAGGC 0.502000 30 247 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10382279 10382279 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:10382279G>A ENST00000397077.1 - 19 3467 c.2892C>T c.(2890-2892)aaC>aaT p.N964N ATP2B2_ENST00000383800.4_Silent_p.N964N|ATP2B2_ENST00000360273.2_Silent_p.N1009N|ATP2B2_ENST00000352432.4_Silent_p.N1009N|ATP2B2_ENST00000343816.4_Silent_p.N995N Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1009 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding p.N1009N(2)|p.N964N(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGTTGATCTCGTTGAAGAGCT 0.562000 115 383 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78325854 78325854 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:78325854C>A ENST00000255189.3 - 11 1715 c.1687G>T c.(1687-1689)Ggt>Tgt p.G563C DMGDH_ENST00000380311.4_Missense_Mutation_p.G362C|DMGDH_ENST00000540686.1_Missense_Mutation_p.G183C NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 563 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity p.G563C(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTTGTAAAACCCACCTACATA 0.348000 14 64 7.93312e-07 8.63949e-07 1 1 0 CCDC129 223075 broad.mit.edu 37 7 31690852 31690852 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:31690852C>T ENST00000319386.3 + 12 3229 c.2236C>T c.(2236-2238)Ctc>Ttc p.L746F CCDC129_ENST00000407970.3_Missense_Mutation_p.L894F|CCDC129_ENST00000409210.1_Missense_Mutation_p.L802F|CCDC129_ENST00000451887.2_Missense_Mutation_p.L920F Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 894 p.L894F(2)|p.L746F(2) cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACAGCAGGCCCTCTTTTCCAG 0.473000 165 303 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059153 248059153 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248059153G>T ENST00000537741.1 + 3 522 c.265G>T c.(265-267)Gac>Tac p.D89Y OR2W3_ENST00000360358.3_Missense_Mutation_p.D89Y Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D89Y(2) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TAATGGATGTGACAAGACCAT 0.567000 80 200 2.9056e-39 4.05255e-39 1 1 0 PRICKLE3 4007 broad.mit.edu 37 X 49032419 49032419 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:49032419C>A ENST00000376317.3 - 9 1545 c.1451G>T c.(1450-1452)gGa>gTa p.G484V PRICKLE3_ENST00000540849.1_Missense_Mutation_p.G416V|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.G403V|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.G320V NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 484 Missing (in Ref. 5; AAB92357). protein binding|zinc ion binding p.G484V(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 GCGCGGGCCTCCTTCAGACAC 0.701000 4 5 2.0095e-06 2.18096e-06 1 1 0 BTK 695 broad.mit.edu 37 X 100613339 100613339 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:100613339G>A ENST00000308731.7 - 12 1224 c.1061C>T c.(1060-1062)aCc>aTc p.T354I BTK_ENST00000372880.1_Intron NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 354 SH2. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding p.T354I(2) breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTCAGGGATGGTGCTGAAAAG 0.502000 Agammaglobulinemia, X-linked 193 360 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45568239 45568239 + RNA SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:45568239C>A ENST00000256692.5 - 0 446 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATCCCAGGGCCACCAGCCGCC 0.473000 30 57 1.88708e-17 2.30805e-17 1 1 0 C10orf53 282966 broad.mit.edu 37 10 50916417 50916417 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:50916417C>A ENST00000374112.3 + 3 240 c.228C>A c.(226-228)acC>acA p.T76T C10orf53_ENST00000535836.1_Silent_p.T76T NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 79 p.T76T(2) endometrium(1)|lung(6) 7 all_neural(218;0.107) gcaagctcaccccaagtagtg 0.493000 83 160 1.39521e-32 1.89605e-32 1 1 0 ENO3 2027 broad.mit.edu 37 17 4857038 4857038 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:4857038G>T ENST00000323997.6 + 6 474 c.342G>T c.(340-342)gtG>gtT p.V114V ENO3_ENST00000519584.1_Silent_p.V71V|ENO3_ENST00000518175.1_Silent_p.V114V NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 114 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity p.V114V(1) cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 TCCTGGGCGTGTCCTTGGCCG 0.607000 57 79 3.74213e-36 5.1739e-36 1 1 0 MAGEE1 57692 broad.mit.edu 37 X 75648524 75648524 + Silent SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:75648524C>T ENST00000361470.2 + 1 479 c.201C>T c.(199-201)tcC>tcT p.S67S NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 67 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CAAGCACCTCCGTTCTGCCCA 0.682000 6 1 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000141 56000141 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:56000141C>A ENST00000313264.4 - 1 596 c.521G>T c.(520-522)aGc>aTc p.S174I NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S174I(2) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GGGTGACATGCTCACTGAATA 0.433000 318 555 7.31452e-187 1.19898e-186 1 1 0 NOLC1 9221 broad.mit.edu 37 10 103917833 103917833 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:103917833G>T ENST00000405356.1 + 5 704 c.469G>T c.(469-471)Gcc>Tcc p.A157S NOLC1_ENST00000488254.2_Missense_Mutation_p.A158S|NOLC1_ENST00000605788.1_Missense_Mutation_p.A157S|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 157 11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding p.A157S(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) AGCCAAGGCAGCCAAAGCTCC 0.488000 38 80 1.86633e-21 2.36452e-21 1 1 0 OR10A4 283297 broad.mit.edu 37 11 6898596 6898596 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:6898596T>G ENST00000379829.2 + 1 741 c.718T>G c.(718-720)Tcc>Gcc p.S240A NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S240A(2) kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGGCATTCTCCACCTGTTC 0.507000 43 298 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 41 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20443793 20443793 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:20443793T>A ENST00000305051.5 + 1 191 c.116T>A c.(115-117)cTg>cAg p.L39Q NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L39Q(2) endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGTGTTGCTGGGACTGTCT 0.403000 218 315 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887584 23887584 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:23887584G>A ENST00000355349.3 - 30 4166 c.4004C>T c.(4003-4005)tCg>tTg p.S1335L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335L(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGCCGGGCCGACTGCAGTGC 0.657000 4 32 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27428248 27428248 + Silent SNP G G T rs137936112 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:27428248G>T ENST00000263980.3 - 10 2580 c.2005C>A c.(2005-2007)Cgg>Agg p.R669R SLC9A1_ENST00000545949.1_Silent_p.R330R NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 669 regulation of pH integral to membrane sodium:hydrogen antiporter activity p.R669R(1) central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TTCTGCCTCCGGAGCAGCATC 0.637000 6 3 0.000157383 0.000161445 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31273080 31273080 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:31273080G>T ENST00000544665.3 + 2 167 c.96G>T c.(94-96)agG>agT p.R32S ITGAM_ENST00000287497.8_Missense_Mutation_p.R32S NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 32 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.R32S(2) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGAACGCAAGGGGCTTCGGGC 0.517000 99 165 3.90656e-58 5.77808e-58 1 1 0 EP400 57634 broad.mit.edu 37 12 132510236 132510236 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:132510236G>T ENST00000333577.4 + 26 5118 c.5009G>T c.(5008-5010)cGa>cTa p.R1670L EP400_ENST00000330386.6_Missense_Mutation_p.R1553L|EP400_ENST00000332482.4_Missense_Mutation_p.R1597L|EP400_ENST00000389562.2_Missense_Mutation_p.R1633L|EP400_ENST00000389561.2_Missense_Mutation_p.R1634L Q96L91 EP400_HUMAN E1A binding protein p400 1670 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.R1633L(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCTACCTTCGAGCCCCTGGC 0.672000 8 15 2.17888e-05 2.30961e-05 1 1 0 MARK1 4139 broad.mit.edu 37 1 220835506 220835506 + Nonstop_Mutation SNP T T G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:220835506T>G ENST00000402574.1 + 17 2938 c.1936T>G c.(1936-1938)Taa>Gaa p.*646E MARK1_ENST00000366918.4_Nonstop_Mutation_p.*759E|MARK1_ENST00000366917.4_Nonstop_Mutation_p.*796E NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 0 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.*796E(3) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) GCTTAAGCTGTAAAGAAGTCC 0.393000 10 91 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112018498 112018498 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:112018498C>A ENST00000374566.3 - 9 1364 c.847G>T c.(847-849)Gat>Tat p.D283Y EPB41L4B_ENST00000374557.4_Missense_Mutation_p.D283Y NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 283 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton p.D283Y(4) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCACAGCCATCTCTTCCCTAC 0.398000 99 110 9.53166e-59 1.41639e-58 1 1 0 SLC30A9 10463 broad.mit.edu 37 4 42003698 42003698 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:42003698G>C ENST00000264451.6 + 2 355 c.175G>C c.(175-177)Ggt>Cgt p.G59R NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 59 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity p.G59R(2) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCATATATTGGTACCCTGAG 0.353000 115 232 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. 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.Q210Q(2) 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 agcagcaacagcagcagcagc 0.502000 19 65 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104335780 104335780 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:104335780G>T ENST00000361820.3 - 9 3624 c.3024C>A c.(3022-3024)ccC>ccA p.P1008P NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 1008 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.P1008P(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) TAAGCTGACGGGGTCCCACAT 0.448000 123 116 4.83698e-98 7.61466e-98 1 1 0 NUDT14 256281 broad.mit.edu 37 14 105639463 105639463 + Silent SNP G G A rs140616526 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:105639463G>A ENST00000392568.2 - 5 657 c.564C>T c.(562-564)ggC>ggT p.G188G NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 188 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) AGGCCTGGGCGCCTTCCAGGG 0.632000 HNSCC(42;0.11) 3 5 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32048735 32048735 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:32048735G>T ENST00000438447.1 + 8 1998 c.1610G>T c.(1609-1611)cGa>cTa p.R537L PDZD2_ENST00000282493.3_Missense_Mutation_p.R537L O15018 PDZD2_HUMAN PDZ domain containing 2 537 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.R537L(2) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GAGGTCTCCCGAGATGGCCGG 0.562000 12 67 2.23348e-06 2.41581e-06 1 1 0 COQ7 10229 broad.mit.edu 37 16 19087069 19087069 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:19087069G>T ENST00000321998.5 + 4 460 c.394G>T c.(394-396)Gaa>Taa p.E132* COQ7_ENST00000569127.1_Nonsense_Mutation_p.E109*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.E94*|COQ7_ENST00000568985.1_Nonsense_Mutation_p.E132* NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 132 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding p.E132*(2) breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 GCTCGGGAAGGAAGGTGCCAT 0.552000 16 101 1.45105e-14 1.72822e-14 1 1 0 SLC19A1 6573 broad.mit.edu 37 21 46935678 46935678 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr21:46935678T>A ENST00000311124.4 - 6 1822 c.1670A>T c.(1669-1671)gAg>gTg p.E557V SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000485649.2_Missense_Mutation_p.E517V|SLC19A1_ENST00000380010.4_Intron NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 557 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity p.E557V(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) ATCTGCAGCCTCAGGGCCTGA 0.622000 3 10 0 0 1 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128957764 128957764 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:128957764G>A ENST00000357166.6 - 5 769 c.378C>T c.(376-378)atC>atT p.I126I ZDHHC9_ENST00000491039.1_5'UTR|ZDHHC9_ENST00000371064.3_Silent_p.I126I NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 126 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding p.I126I(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 GGAAATTCTTGATACGAGGCG 0.493000 25 387 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016506 23016506 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:23016506A>T ENST00000255008.3 + 1 450 c.386A>T c.(385-387)aAc>aTc p.N129I RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 129 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.N129I(2) 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) GACGGCCTCAACATGTTCACC 0.701000 40 18 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164070 151164070 + Silent SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:151164070C>T ENST00000282466.3 - 4 3698 c.3699G>A c.(3697-3699)gtG>gtA p.V1233V NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1233 cell differentiation|multicellular organismal development|ossification extracellular region p.V1233V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGGAAGCATCACAGCTGTGC 0.383000 151 245 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43359724 43359724 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:43359724C>A ENST00000401467.2 - 1 119 c.48G>T c.(46-48)aaG>aaT p.K16N PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 16 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCAGGACCCCCTTCCATTTGA 0.572000 106 83 2.54656e-39 3.56743e-39 1 1 0 OR5V1 81696 broad.mit.edu 37 6 29323725 29323725 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:29323725A>G ENST00000377154.1 - 4 547 c.248T>C c.(247-249)gTg>gCg p.V83A OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V83A(1) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAGGAGGTGCACCATCATCTG 0.433000 20 752 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764395 82764395 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:82764395G>A ENST00000423517.2 - 3 2808 c.2471C>T c.(2470-2472)cCt>cTt p.P824L PCLO_ENST00000333891.8_Missense_Mutation_p.P824L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 770 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P824L(4)|p.P770L(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTGATGCAGGTCGAGGTAT 0.438000 111 195 0 0 1 0 0 LOC494141 494141 broad.mit.edu 37 11 18231289 18231289 + Missense_Mutation SNP C C A rs4757627 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:18231289C>A ENST00000527059.1 + 1 535 c.75C>A c.(73-75)ttC>ttA p.F25L RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.F25L|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.F25L CTAACATCTTCGAAACAAGAT 0.363000 7 176 0.000157383 0.000161445 1 1 0 OR10H4 126541 broad.mit.edu 37 19 16060247 16060247 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:16060247C>G ENST00000322107.1 + 1 430 c.430C>G c.(430-432)Cat>Gat p.H144D NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 144 H -> R (in dbSNP:rs16980822). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H144D(2) breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 TGACTGTGCCCATCTTGTGGC 0.542000 87 194 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158622310 158622310 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:158622310C>A ENST00000368148.3 - 23 3502 c.3322G>T c.(3322-3324)Gtg>Ttg p.V1108L SPTA1_ENST00000368147.3_Missense_Mutation_p.V1108L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1108 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.V1108L(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTAGTTCCACTCCAGTGTTT 0.408000 81 192 5.12525e-22 6.51931e-22 1 1 0 NEK4 6787 broad.mit.edu 37 3 52794870 52794870 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:52794870T>A ENST00000233027.5 - 6 1106 c.904A>T c.(904-906)Aat>Tat p.N302Y NEK4_ENST00000383721.4_Missense_Mutation_p.N302Y|NEK4_ENST00000535191.1_Missense_Mutation_p.N213Y NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 302 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity p.N302Y(2) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) ACTTCATGATTTGATTCTGCC 0.378000 75 76 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20824527 20824527 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:20824527G>T ENST00000304031.3 - 5 774 c.749C>A c.(748-750)cCa>cAa p.P250Q NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 250 cell communication phosphatidylinositol binding p.P250Q(2) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGGTCCTGTGGAGACAGCTT 0.642000 3 35 8.12818e-05 8.47463e-05 1 1 0 KIF2B 84643 broad.mit.edu 37 17 51900791 51900791 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:51900791G>T ENST00000268919.4 + 1 553 c.397G>T c.(397-399)Gtg>Ttg p.V133L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 133 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.V133L(2)|p.V133M(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAGCCTGGATGTGAGGGTCCC 0.582000 57 115 1.64573e-32 2.22699e-32 1 1 0 NBPF14 25832 broad.mit.edu 37 1 148016411 148016411 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:148016411G>A ENST00000369219.1 - 7 847 c.831C>T c.(829-831)ccC>ccT p.P277P Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 277 NBPF 3. cytoplasm p.P277P(2)|p.P283L(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGACTCACCTGGGACCTGTTG 0.438000 458 214 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110862504 110862504 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr13:110862504C>G ENST00000375820.4 - 9 645 c.524G>C c.(523-525)aGa>aCa p.R175T COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 175 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.R175T(2)|p.R166T(2) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGAAATCCTCTTTCACCTTT 0.453000 52 53 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98146807 98146807 + Missense_Mutation SNP G G T rs144026118 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:98146807G>T ENST00000357947.3 - 14 1980 c.1755C>A c.(1753-1755)caC>caA p.H585Q NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 585 EGF-like 1; calcium-binding (Potential). EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.H585Q(2) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGCACCCGCCGTGATCTGGCC 0.582000 78 86 6.48246e-70 9.91069e-70 1 1 0 MUC16 94025 broad.mit.edu 37 19 9021116 9021116 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:9021116C>A ENST00000397910.4 - 19 37410 c.37207G>T c.(37207-37209)Gag>Tag p.E12403* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12405 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E12403*(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 CCCATGTCCTCCCCATACTGC 0.552000 475 1211 1.00353e-100 1.58768e-100 1 1 0 CSMD3 114788 broad.mit.edu 37 8 114186033 114186033 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:114186033G>A ENST00000297405.5 - 4 871 c.627C>T c.(625-627)atC>atT p.I209I CSMD3_ENST00000343508.3_Silent_p.I169I|CSMD3_ENST00000455883.2_Silent_p.I209I|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.I209I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 209 Sushi 1. integral to membrane|plasma membrane p.I209I(2)|p.I169I(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 GGCCATCAAGGATGTATCCAG 0.458000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 81 301 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11047364 11047364 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:11047364A>G ENST00000379261.4 + 1 106 c.14A>G c.(13-15)aAa>aGa p.K5R CELF2_ENST00000416382.2_Missense_Mutation_p.K5R NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 5 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding p.K5R(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CGCTGTCCCAAATCCGCTGTT 0.438000 57 289 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704148 6704148 + Missense_Mutation SNP G G C rs150562113 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:6704148G>C ENST00000338694.2 - 7 1096 c.967C>G c.(967-969)Cgg>Ggg p.R323G TEKT1_ENST00000535086.1_Missense_Mutation_p.R177G NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 323 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.H322_R323>QG(1)|p.R323G(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) ACGTTCGGCCGGTGTGTCCTG 0.527000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 198 229 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10910395 10910395 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr21:10910395A>T ENST00000298232.7 - 21 1674 c.1307T>A c.(1306-1308)cTt>cAt p.L436H TPTE_ENST00000361285.4_Missense_Mutation_p.L454H|TPTE_ENST00000342420.5_Missense_Mutation_p.L416H|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 454 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L436H(2)|p.L454H(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AATGTTATCAAGTACCTATGA 0.323000 65 271 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 116 299 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4944698 4944698 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:4944698G>T ENST00000321961.2 - 1 939 c.872C>A c.(871-873)cCc>cAc p.P291H MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P291H(1) NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GTAGATGATGGGGTTCATAAG 0.438000 77 233 6.47592e-44 9.31829e-44 1 1 0 AHRR 57491 broad.mit.edu 37 5 353963 353963 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:353963C>G ENST00000316418.5 + 3 237 c.193C>G c.(193-195)Ctg>Gtg p.L65V AHRR_ENST00000505113.1_Missense_Mutation_p.L65V|AHRR_ENST00000515206.1_Missense_Mutation_p.L61V|AHRR_ENST00000512529.1_Intron NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 65 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.L61V(2) breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CATCTCCAAGCTGGACAAGCT 0.592000 10 39 0 0 1 0 0 ARL5B 221079 broad.mit.edu 37 10 18948604 18948604 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:18948604G>T ENST00000377275.3 + 1 271 c.38G>T c.(37-39)tGt>tTt p.C13F NM_178815.3 NP_848930.1 Q96KC2 ARL5B_HUMAN ADP-ribosylation factor-like 5B 13 small GTPase mediated signal transduction intracellular GTP binding p.C13F(1) lung(1)|ovary(1) 2 AGCCTCTTCTGTAACCAAGGT 0.692000 8 6 2.74318e-10 3.10438e-10 1 1 0 ZNF479 90827 broad.mit.edu 37 7 57188147 57188147 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:57188147G>C ENST00000331162.4 - 5 1245 c.975C>G c.(973-975)tgC>tgG p.C325W NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C325W(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CCTCACACCTGCAGGGTTTCT 0.453000 13 34 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682066 100682066 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:100682066C>A ENST00000306151.4 + 3 7433 c.7369C>A c.(7369-7371)Ccg>Acg p.P2457T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2457 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2457T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGGAACCACTCCGTTAGCAAG 0.537000 119 493 9.56113e-55 1.40761e-54 1 1 0 COG5 10466 broad.mit.edu 37 7 106898754 106898754 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:106898754C>A ENST00000393603.2 - 15 2014 c.1743G>T c.(1741-1743)gtG>gtT p.V581V COG5_ENST00000347053.3_Silent_p.V581V|COG5_ENST00000297135.3_Silent_p.V581V NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 581 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding p.V581V(1) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 ACAATGAATTCACTACTGCCA 0.338000 186 366 3.53177e-68 5.37371e-68 1 1 0 RIOK2 55781 broad.mit.edu 37 5 96506952 96506952 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:96506952T>A ENST00000283109.3 - 6 805 c.737A>T c.(736-738)gAt>gTt p.D246V CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.D246V NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 246 ATP binding|protein serine/threonine kinase activity p.D246V(4) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CTGTGGAAAATCAATCATGGT 0.318000 67 187 0 0 1 0 0 ALMS1P 200420 broad.mit.edu 37 2 73901983 73901983 + RNA SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:73901983C>G ENST00000450720.1 + 0 936 NR_003683.2 p.Q152E(2) CCTGGCTGTCCAGAAGAACAA 0.478000 57 70 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228492264 228492264 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:228492264A>G ENST00000570156.2 + 53 14337 c.14263A>G c.(14263-14265)Agg>Ggg p.R4755G OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1445G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3798 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R4380G(2)|p.R4510G(2) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACTCACGATCAGGGGTAAAGA 0.557000 55 134 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52584605 52584605 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:52584605C>A ENST00000356770.4 - 27 4470 c.4468G>T c.(4468-4470)Ggc>Tgc p.G1490C PBRM1_ENST00000409767.1_Missense_Mutation_p.G1485C|PBRM1_ENST00000394830.3_Missense_Mutation_p.G1470C|PBRM1_ENST00000337303.4_Missense_Mutation_p.G1470C|PBRM1_ENST00000409057.1_Missense_Mutation_p.G1522C|PBRM1_ENST00000296302.7_Missense_Mutation_p.G1577C|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Missense_Mutation_p.G1540C|PBRM1_ENST00000410007.1_Missense_Mutation_p.G1497C Q86U86 PB1_HUMAN polybromo 1 1577 Pro-rich. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.G1577C(1)|p.G1490C(1)|p.G1470C(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGATGTGGGCCGGGATATGGA 0.572000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 7 36 0.000157383 0.000161445 1 1 0 KRT32 3882 broad.mit.edu 37 17 39620561 39620561 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:39620561C>A ENST00000225899.3 - 4 946 c.843G>T c.(841-843)agG>agT p.R281S NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 281 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity p.R281S(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CCTCCACGTCCCTGCGGTTGG 0.617000 23 45 1.12875e-08 1.25067e-08 1 1 0 OR51V1 283111 broad.mit.edu 37 11 5221796 5221796 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:5221796G>T ENST00000321255.1 - 1 134 c.135C>A c.(133-135)gcC>gcA p.A45A NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A45A(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGCACCATGGCATAGATTG 0.512000 133 437 1.69274e-77 2.62581e-77 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31864558 31864558 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:31864558C>A ENST00000396184.3 - 14 1533 c.1329G>T c.(1327-1329)acG>acT p.T443T PDE1C_ENST00000396182.2_Silent_p.T443T|PDE1C_ENST00000396191.1_Silent_p.T443T|PDE1C_ENST00000321453.7_Silent_p.T443T|PDE1C_ENST00000396193.1_Silent_p.T503T NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 443 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.T443T(2)|p.D444Y(2)|p.T503T(1)|p.D504Y(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CGGTCATGTCCGTAAGCACAG 0.483000 128 313 1.67419e-43 2.38741e-43 1 1 0 CDH10 1008 broad.mit.edu 37 5 24537699 24537699 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:24537699C>A ENST00000264463.4 - 3 823 c.316G>T c.(316-318)Gaa>Taa p.E106* NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 106 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E106*(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCTGTTTTTTCATCAATAATA 0.388000 HNSCC(23;0.051) 8 122 0.000274275 0.000280449 1 1 0 PRPF19 27339 broad.mit.edu 37 11 60666746 60666746 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:60666746T>G ENST00000227524.4 - 11 1064 c.859A>C c.(859-861)Act>Cct p.T287P NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 287 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity p.T287P(2) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 ATCCTGATAGTGGCATCGGGG 0.488000 OREG0020994 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 57 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50946023 50946023 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:50946023G>A ENST00000374103.4 - 19 2572 c.2487C>T c.(2485-2487)cgC>cgT p.R829R OGDHL_ENST00000432695.1_Silent_p.R620R|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.R772R NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 829 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R829R(2) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGATCTGCCGGCGCAGCACGT 0.652000 58 203 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414872 14414872 + RNA SNP C C T rs11088818 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr21:14414872C>T ENST00000507941.1 + 0 95 AGTAGTAACACTTCTGGTAGA 0.473000 4 104 0 0 1 0 0 CXorf40B 541578 broad.mit.edu 37 X 149101918 149101918 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:149101918C>A ENST00000370406.3 - 4 1003 c.175G>T c.(175-177)Gag>Tag p.E59* CXorf40B_ENST00000462691.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000355203.2_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000370404.1_Nonsense_Mutation_p.E59* Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 59 p.E59*(2) endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCGAGTCTCTCCACCAGCAGC 0.577000 37 132 9.62906e-15 1.15549e-14 1 1 0 OPN5 221391 broad.mit.edu 37 6 47775990 47775990 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:47775990A>T ENST00000489301.2 + 5 942 c.857A>T c.(856-858)cAg>cTg p.Q286L OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.Q286L|OPN5_ENST00000393699.2_Missense_Mutation_p.Q286L Q6U736 OPN5_HUMAN opsin 5 286 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.Q286L(2) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 ATTCCCATACAGCTCTCTGTG 0.458000 117 231 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28424343 28424343 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:28424343T>C ENST00000261609.7 - 58 9072 c.8964A>G c.(8962-8964)acA>acG p.T2988T NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2988 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T2988T(2) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCTGACAGTGTCTCAGAGA 0.294000 38 38 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56443508 56443508 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:56443508C>A ENST00000588751.1 - 1 194 c.170G>T c.(169-171)tGg>tTg p.W57L NLRP13_ENST00000342929.3_Missense_Mutation_p.W57L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 57 DAPIN. ATP binding p.W57L(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAGTTTGCCCAGGGGATACG 0.547000 78 66 4.02712e-25 5.22704e-25 1 1 0 STAG3L4 64940 broad.mit.edu 37 7 66774598 66774598 + RNA SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:66774598C>T ENST00000416602.2 + 0 615 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CCAACTGAGTCTGCACGAAGA 0.483000 6 182 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202609145 202609145 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:202609145T>C ENST00000264276.6 - 10 2378 c.2006A>G c.(2005-2007)tAt>tGt p.Y669C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 669 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity p.Y669C(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TCTGCTTATATATCCAAGCTG 0.353000 81 43 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20177828 20177828 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:20177828G>T ENST00000524983.2 - 4 1252 c.964C>A c.(964-966)Cct>Act p.P322T DBX1_ENST00000227256.3_Missense_Mutation_p.P361T A6NMT0 DBX1_HUMAN developing brain homeobox 1 322 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P361T(2) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 AAGTCCGAAGGTTTCCCGGGA 0.652000 23 46 2.27731e-05 2.40592e-05 1 1 0 GOLIM4 27333 broad.mit.edu 37 3 167728078 167728078 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:167728078T>C ENST00000470487.1 - 16 2759 c.2070A>G c.(2068-2070)tcA>tcG p.S690S GOLIM4_ENST00000309027.4_Silent_p.S662S NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 690 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus p.S690S(2) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTCGATGTGATTTCTCAG 0.493000 113 347 0 0 1 0 0 AVPR2 554 broad.mit.edu 37 X 153171455 153171455 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:153171455C>A ENST00000358927.2 + 3 704 c.495C>A c.(493-495)gcC>gcA p.A165A AVPR2_ENST00000370049.1_Silent_p.A165A|AVPR2_ENST00000337474.5_Silent_p.A165A P30518 V2R_HUMAN arginine vasopressin receptor 2 165 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity p.A165A(2)|p.L168fs*41(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TGGCTTGGGCCTTCTCGCTCC 0.662000 18 23 1.33834e-09 1.50919e-09 1 1 0 GALNTL5 168391 broad.mit.edu 37 7 151664369 151664369 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:151664369C>A ENST00000392800.2 + 2 292 c.38C>A c.(37-39)tCc>tAc p.S13Y GALNTL5_ENST00000431418.2_Missense_Mutation_p.S13Y NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 13 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.S13Y(2) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTCTATGGGTCCTTGACATTT 0.383000 21 79 2.48779e-11 2.85602e-11 1 1 0 ASPM 259266 broad.mit.edu 37 1 197104226 197104226 + Splice_Site SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:197104226C>A ENST00000367409.4 - 5 2429 c.2173_splice c.e5+1 p.V725_splice ASPM_ENST00000294732.7_Splice_Site_p.V725_splice|ASPM_ENST00000367408.1_5'UTR NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 725 mitosis cytoplasm|nucleus calmodulin binding p.V725L(2) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TAACGTTTACCTTCAGAAATA 0.269000 11 17 3.86212e-05 4.03998e-05 1 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17698743 17698743 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:17698743T>C ENST00000399080.2 - 1 963 c.940A>G c.(940-942)Aaa>Gaa p.K314E NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 314 p.K314E(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACAGTTTTTTTATCATTCTGT 0.328000 7 99 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168098448 168098448 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:168098448G>T ENST00000519560.1 - 34 4301 c.3882C>A c.(3880-3882)ggC>ggA p.G1294G SLIT3_ENST00000404867.3_Silent_p.G1294G|SLIT3_ENST00000332966.8_Silent_p.G1301G NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1294 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.G1294G(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCGGTCCGTGCCCTGGCGCA 0.672000 28 13 1.96642e-18 2.43316e-18 1 1 0 ASPA 443 broad.mit.edu 37 17 3385072 3385072 + Nonsense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:3385072C>T ENST00000263080.2 + 2 570 c.412C>T c.(412-414)Cag>Tag p.Q138* ASPA_ENST00000456349.2_Nonsense_Mutation_p.Q138*|SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 138 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding p.Q138*(2) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) CTTTTTAATTCAGATGTTTCA 0.318000 5 19 0 0 1 0 0 QPRT 23475 broad.mit.edu 37 16 29708623 29708623 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:29708623C>A ENST00000395384.4 + 4 946 c.785C>A c.(784-786)cCg>cAg p.P262Q QPRT_ENST00000219771.7_3'UTR|QPRT_ENST00000562473.1_Missense_Mutation_p.P114Q NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 262 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity p.P262Q(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) TTCTGCGGGCCGCACATAGAC 0.632000 23 19 7.87624e-14 9.24224e-14 1 1 0 LAX1 54900 broad.mit.edu 37 1 203743633 203743633 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:203743633G>T ENST00000442561.2 + 5 1411 c.1021G>T c.(1021-1023)Gct>Tct p.A341S LAX1_ENST00000367217.5_Missense_Mutation_p.A325S|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 341 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding p.A341S(2) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GACATTCCTTGCTTCAGGGGA 0.468000 82 169 1.59803e-59 2.38578e-59 1 1 0 SLC7A11 23657 broad.mit.edu 37 4 139100436 139100436 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:139100436C>A ENST00000280612.5 - 11 1658 c.1379G>T c.(1378-1380)gGa>gTa p.G460V NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 460 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding p.G460V(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) CGCAGGGACTCCAGTCAGAGT 0.423000 39 83 4.01765e-15 4.83945e-15 1 1 0 ANKS1B 56899 broad.mit.edu 37 12 99837534 99837534 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:99837534T>G ENST00000547776.2 - 11 1491 c.1492A>C c.(1492-1494)Agc>Cgc p.S498R ANKS1B_ENST00000547010.1_Missense_Mutation_p.S78R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S498R NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 498 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane p.S498R(2) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCTGTTGAGCTGTTTCTATGG 0.438000 107 223 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81187704 81187704 + RNA SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:81187704G>C ENST00000525539.1 - 0 4267 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.P1423R(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAGGTGGTGGGGCTCTCTCTC 0.602000 6 8 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149131 52149131 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:52149131G>T ENST00000360844.6 - 3 645 c.604C>A c.(604-606)Ccc>Acc p.P202T SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 202 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.P202T(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TCGGGCCTGGGGGTGAGGGTG 0.627000 64 40 2.10938e-32 2.8423e-32 1 1 0 RPGR 6103 broad.mit.edu 37 X 38145111 38145111 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:38145111T>C ENST00000378505.2 - 15 3317 c.3141A>G c.(3139-3141)gaA>gaG p.E1047E RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 836 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding p.E1047E(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 ccccctccttttccctttctt 0.537000 5 12 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227218999 227218999 + Splice_Site SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:227218999C>G ENST00000366769.3 - 27 4961 c.3670_splice c.e27+1 p.D1224_splice CDC42BPA_ENST00000366764.2_Splice_Site_p.D1196_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.D1204_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.D1259_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.D1143_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.D1237_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.D1224_splice NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1237 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.D1224H(2)|p.D1143H(2)|p.D1259H(2) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AAATTCATACCTATGATTGCG 0.388000 46 92 0 0 1 0 0 ZNF256 10172 broad.mit.edu 37 19 58452538 58452538 + Silent SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:58452538A>T ENST00000282308.3 - 3 1834 c.1638T>A c.(1636-1638)ccT>ccA p.P546P ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 546 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P546P(2) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) TGCACTCATAAGGCCTTTCTC 0.453000 6 110 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63009375 63009375 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:63009375C>G ENST00000251157.5 - 24 2934 c.2901G>C c.(2899-2901)gaG>gaC p.E967D DOCK7_ENST00000340370.5_Missense_Mutation_p.E936D NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 967 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.E936D(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 AACTTGACGTCTCTGTGTGCG 0.373000 5 171 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119727780 119727780 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:119727780T>A ENST00000541757.1 + 4 436 c.56T>A c.(55-57)cTg>cAg p.L19Q MARCO_ENST00000327097.4_Missense_Mutation_p.L97Q Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 97 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.L97Q(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TTCTCCTTGCTGCAGTCAGCA 0.617000 153 71 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38192396 38192396 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:38192396G>A ENST00000394126.1 - 3 718 c.300C>T c.(298-300)taC>taT p.Y100Y MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Intron|MED24_ENST00000394128.2_Silent_p.Y75Y|MED24_ENST00000501516.3_Silent_p.Y75Y|MED24_ENST00000394127.2_Intron O75448 MED24_HUMAN mediator complex subunit 24 75 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.Y75Y(2) autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GGACAGAAGAGTAGGACACCA 0.498000 74 185 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12905653 12905653 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:12905653A>T ENST00000380659.3 + 3 2165 c.2026A>T c.(2026-2028)Aat>Tat p.N676Y NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 676 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity p.N676Y(1) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TATGCCTCCAAATCTAAAGAA 0.373000 10 349 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91667886 91667886 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:91667886A>G ENST00000359028.2 + 18 4753 c.4528A>G c.(4528-4530)Att>Gtt p.I1510V AKAP9_ENST00000356239.3_Missense_Mutation_p.I1498V|AKAP9_ENST00000358100.2_Missense_Mutation_p.I1510V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1510 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.I1510V(2)|p.I1498V(2) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAGGATCAAATTGGTTTTCA 0.323000 T BRAF papillary thyroid 35 63 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3684492 3684492 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:3684492G>A ENST00000344754.4 - 4 952 c.953C>T c.(952-954)cCc>cTc p.P318L SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P318L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 318 Ig-like C2-type 2. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.P318L(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GAGGCTGATGGGGGGTGAGAC 0.612000 24 26 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799160 212799160 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:212799160G>T ENST00000294829.3 + 1 1372 c.941G>T c.(940-942)gGg>gTg p.G314V RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 314 Ala-rich. p.G314V(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GCCATAGCTGGGGCGGCCACC 0.642000 16 37 7.87624e-14 9.24224e-14 1 1 0 OR14A16 284532 broad.mit.edu 37 1 247978341 247978341 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:247978341C>T ENST00000357627.1 - 1 690 c.691G>A c.(691-693)Ggc>Agc p.G231S NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G231S(2) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TTTGACTGGCCTTCTGTGGAA 0.413000 105 211 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133256576 133256576 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:133256576T>C ENST00000320574.5 - 5 430 c.387A>G c.(385-387)gcA>gcG p.A129A POLE_ENST00000535270.1_Silent_p.A102A NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 129 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.A129A(4) 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) TCTCCACTTTTGCAATTTTGC 0.448000 DNA polymerases (catalytic subunits) 31 50 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151962197 151962197 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:151962197G>T ENST00000355193.2 - 8 1328 c.1110C>A c.(1108-1110)tgC>tgA p.C370* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C370* lysine (K)-specific methyltransferase 2C p.C370*(2) CTATATCCAGGCACATTCCAT 0.453000 894 2710 4.38702e-148 7.11772e-148 1 1 0 OR2T2 401992 broad.mit.edu 37 1 248616138 248616138 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248616138G>A ENST00000342927.3 + 1 62 c.40G>A c.(40-42)Gtc>Atc p.V14I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V14S(2) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CACTAACTTCGTCCTCACAGG 0.507000 30 244 0 0 1 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239890 135239890 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:135239890G>A ENST00000265605.2 - 7 1195 c.1127C>T c.(1126-1128)aCg>aTg p.T376M ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T322M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T326M NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 376 retinal metabolic process cytoplasm retinal dehydrogenase activity p.T376M(4) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TGTTATCACCGTGGGAAGCAT 0.502000 27 110 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433035 55433035 + Silent SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:55433035G>C ENST00000314259.3 + 1 422 c.393G>C c.(391-393)acG>acC p.T131T NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T131T(2) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGCACTACACGATCATCATGA 0.512000 74 184 0 0 1 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51279140 51279140 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:51279140G>A ENST00000551456.1 + 4 809 c.764G>A c.(763-765)gGt>gAt p.G255D TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G255D Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 255 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity p.G255D(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 TTTTGTGCAGGTGATGAAGAT 0.363000 269 480 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048560 6048560 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:6048560C>A ENST00000316650.5 - 1 411 c.375G>T c.(373-375)atG>atT p.M125I NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M125I(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTCATAGGCCATGACCATAA 0.502000 175 328 7.30274e-78 1.13837e-77 1 1 0 GHRHR 2692 broad.mit.edu 37 7 31013682 31013682 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:31013682T>A ENST00000409904.3 + 4 746 c.488T>A c.(487-489)cTg>cAg p.L163Q GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Missense_Mutation_p.L227Q Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 227 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding p.L227Q(2) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GCCGTCTACCTGAACTGCCTC 0.632000 19 47 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19028759 19028759 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:19028759G>T ENST00000354791.3 - 16 1430 c.1189C>A c.(1189-1191)Cct>Act p.P397T GPR64_ENST00000360279.4_Missense_Mutation_p.P391T|GPR64_ENST00000379873.2_Missense_Mutation_p.P413T|GPR64_ENST00000357544.3_Missense_Mutation_p.P383T|GPR64_ENST00000379878.3_Missense_Mutation_p.P397T|GPR64_ENST00000357991.3_Missense_Mutation_p.P410T|GPR64_ENST00000379869.3_Missense_Mutation_p.P413T|GPR64_ENST00000379876.1_Missense_Mutation_p.P389T|GPR64_ENST00000356606.4_Missense_Mutation_p.P399T|GPR64_ENST00000340581.3_Missense_Mutation_p.P383T Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 413 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity p.P410T(1) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AGCATGTCAGGCGGGGAATGA 0.527000 150 184 1.34617e-89 2.10878e-89 1 1 0 FIZ1 84922 broad.mit.edu 37 19 56109048 56109048 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:56109048G>A ENST00000221665.3 - 2 273 c.184C>T c.(184-186)Cac>Tac p.H62Y FIZ1_ENST00000592585.1_Intron NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding p.H62Y(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TTGAAGCTGTGCTTGAAACCC 0.677000 5 58 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161976113 161976113 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:161976113C>A ENST00000294794.3 - 4 1120 c.697G>T c.(697-699)Gca>Tca p.A233S OLFML2B_ENST00000367940.2_Missense_Mutation_p.A233S NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 233 Poly-Ala. p.A233S(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTGCTGCTGCATCCCTCTGC 0.527000 51 130 1.80625e-27 2.36374e-27 1 1 0 LINC00842 643650 broad.mit.edu 37 10 47133423 47133423 + RNA SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:47133423T>A ENST00000422732.2 - 0 435 NR_033957.1 TAGGCCTCCATTGCCACAGGG 0.453000 32 188 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144805 25144805 + RNA SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr13:25144805C>A ENST00000453498.1 + 0 346 GGGTCCTGGTCCTGCCATGGG 0.463000 20 101 1.22384e-17 1.50262e-17 1 1 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 41 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20167606 20167606 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:20167606G>T ENST00000263754.4 + 10 2077 c.e10+1 NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding p.?(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TCTTTGACCCGTAAGTGGTAC 0.448000 3 8 0.004672 0.00474663 1 1 0 GPR142 350383 broad.mit.edu 37 17 72368476 72368476 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:72368476G>C ENST00000335666.4 + 4 1174 c.1126G>C c.(1126-1128)Gtc>Ctc p.V376L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 376 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.V376L(2)|p.V376I(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCGGGTCTTCGTCATGCTCTA 0.662000 26 59 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43516038 43516038 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:43516038C>A ENST00000265351.7 - 18 2230 c.2020G>T c.(2020-2022)Gca>Tca p.A674S NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 674 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GCCACTGGTGCCATCAGCTCC 0.483000 24 335 5.60225e-13 6.50188e-13 1 1 0 PMPCB 9512 broad.mit.edu 37 7 102937953 102937953 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:102937953G>T ENST00000249269.4 + 1 85 c.47G>T c.(46-48)cGg>cTg p.R16L PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R16L NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 16 RR -> GG (in Ref. 1; AAC39915). proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding p.R16L(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCGGCGCGGCGGCGGCTCTGG 0.652000 OREG0018240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 18 5.3912e-06 5.7919e-06 1 1 0 PPIP5K2 23262 broad.mit.edu 37 5 102508881 102508881 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:102508881A>G ENST00000321521.9 + 20 2882 c.2309A>G c.(2308-2310)gAa>gGa p.E770G PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E770G|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E770G O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 770 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.E770G(2) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACTAAAGCTGAAAAACTGGAG 0.338000 62 29 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 44 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56099110 56099110 + Missense_Mutation SNP C C T rs147244405 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:56099110C>T ENST00000426658.2 - 1 813 c.152G>A c.(151-153)cGt>cAt p.R51H CTCFL_ENST00000422869.2_Missense_Mutation_p.R51H|CTCFL_ENST00000429804.2_Missense_Mutation_p.R51H|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.2_Missense_Mutation_p.R51H|CTCFL_ENST00000371196.2_Missense_Mutation_p.R51H|CTCFL_ENST00000422109.2_Missense_Mutation_p.R51H|CTCFL_ENST00000423479.2_Missense_Mutation_p.R51H|CTCFL_ENST00000432255.2_Missense_Mutation_p.R51H|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.R51H Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 51 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.R51H(1) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCCAGAGGTACGCTCGGCCTC 0.592000 3 17 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686420 108686420 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:108686420A>G ENST00000397688.2 - 3 683 c.314T>C c.(313-315)tTc>tCc p.F105S CMKLR1_ENST00000550402.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000312143.7_Missense_Mutation_p.F107S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.F105S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F107S NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 107 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.F105S(2) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GGCTGTCCCGAAAACCCAGTG 0.517000 117 285 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21842294 21842294 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:21842294C>A ENST00000382254.1 - 8 1876 c.790G>T c.(790-792)Gac>Tac p.D264Y CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D264Y|CDH12_ENST00000522262.1_Missense_Mutation_p.D224Y NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 264 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D264Y(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GGTGGATTGTCATTGACATCG 0.403000 HNSCC(59;0.17) 158 518 5.99782e-64 8.99673e-64 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55129867 55129867 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:55129867C>T ENST00000257290.5 + 4 732 c.401C>T c.(400-402)aCg>aTg p.T134M PDGFRA_ENST00000508170.1_Missense_Mutation_p.T134M|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 134 Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.T134M(2) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTAGGAATGACGGATTATTTA 0.408000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 94 231 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868644 97868644 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:97868644G>T ENST00000437310.1 + 1 475 c.415G>T c.(415-417)Gga>Tga p.G139* NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G139*(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TATGACCAATGGACTGTGCAT 0.393000 225 287 1.22897e-146 1.98381e-146 1 1 0 RYR2 6262 broad.mit.edu 37 1 237947310 237947310 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:237947310G>A ENST00000366574.2 + 90 12615 c.12298G>A c.(12298-12300)Gtc>Atc p.V4100I RYR2_ENST00000360064.6_Missense_Mutation_p.V4106I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4084I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4100 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.V4098I(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) CAACGTCGCCGTCCTTCTGAC 0.502000 11 55 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719811 140719811 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:140719811A>G ENST00000394576.2 + 1 1273 c.1273A>G c.(1273-1275)Aaa>Gaa p.K425E PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.K425E(4) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAACCGCTAAAGATGGAGG 0.488000 46 83 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34648810 34648810 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:34648810T>C ENST00000537011.1 + 8 2983 c.2601T>C c.(2599-2601)ggT>ggC p.G867G NUTM1_ENST00000438749.3_Silent_p.G857G|NUTM1_ENST00000333756.4_Silent_p.G839G NUT midline carcinoma, family member 1 p.G839G(2) GGGCAGAAGGTTGCTTCCCAT 0.522000 22 150 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74716538 74716538 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:74716538G>A ENST00000532963.1 + 2 302 c.175G>A c.(175-177)Gag>Aag p.E59K NEU3_ENST00000529024.1_Missense_Mutation_p.E59K|NEU3_ENST00000544263.1_Silent_p.K96K|NEU3_ENST00000545272.1_Silent_p.K20K|NEU3_ENST00000531509.1_Silent_p.K129K|NEU3_ENST00000294064.4_Silent_p.K129K A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 0 p.K129K(4) kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GGGAGCAGAAGAGTGGTTGTG 0.562000 28 68 0 0 1 0 0 C7orf25 79020 broad.mit.edu 37 7 42950014 42950014 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:42950014G>A ENST00000350427.4 - 2 761 c.486C>T c.(484-486)aaC>aaT p.N162N C7orf25_ENST00000431882.2_Silent_p.N220N|C7orf25_ENST00000447342.1_Silent_p.N162N|C7orf25_ENST00000438029.1_Silent_p.N162N|PSMA2_ENST00000442788.1_3'UTR Q9BPX7 CG025_HUMAN chromosome 7 open reading frame 25 162 p.N162N(1) endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1) 17 TGATGTGAGGGTTGCTATACT 0.502000 5 94 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531939 92531939 + Nonsense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:92531939C>G ENST00000298047.6 + 9 5777 c.5760C>G c.(5758-5760)taC>taG p.Y1920* FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1770*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1920* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1920 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Y1920*(4) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AACTGACATACAGCCTAATGG 0.418000 TCGA Ovarian(4;0.039) 38 63 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67300882 67300882 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:67300882T>C ENST00000392676.3 - 7 922 c.858A>G c.(856-858)acA>acG p.T286T ABCA5_ENST00000588877.1_Silent_p.T286T|ABCA5_ENST00000392677.2_Silent_p.T286T Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 286 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity p.T286T(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) ACAAAGAAGCTGTCGCAATGA 0.323000 34 81 0 0 1 0 0 RHEBL1 121268 broad.mit.edu 37 12 49463563 49463563 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:49463563C>A ENST00000301068.6 - 1 245 c.6G>T c.(4-6)ccG>ccT p.P2P NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 2 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding p.P2P(2) breast(2)|large_intestine(2)|lung(5) 9 AGCGGACTAGCGGCATGGCAG 0.647000 10 16 7.03913e-09 7.85418e-09 1 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254445 30254445 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:30254445C>A ENST00000361644.2 + 5 1141 c.404C>A c.(403-405)gCa>gAa p.A135E MAGEB3_ENST00000378986.1_Missense_Mutation_p.A135E NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 135 MAGE. p.A135E(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 ATTATGAAAGCAGATATGCTA 0.383000 67 119 5.02462e-34 6.8872e-34 1 1 0 EMR1 2015 broad.mit.edu 37 19 6935052 6935052 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:6935052A>T ENST00000312053.4 + 18 2381 c.2344A>T c.(2344-2346)Agt>Tgt p.S782C EMR1_ENST00000381407.5_Missense_Mutation_p.S641C|EMR1_ENST00000250572.8_Missense_Mutation_p.S717C|EMR1_ENST00000381404.4_Missense_Mutation_p.S763C|EMR1_ENST00000450315.3_Missense_Mutation_p.S605C NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 782 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.S782C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GAGGCTTTCCAGTGTTAATGC 0.468000 70 235 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44781901 44781901 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:44781901G>C ENST00000266534.3 + 8 1118 c.991G>C c.(991-993)Ggg>Cgg p.G331R TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R|TMEM117_ENST00000546978.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 331 endoplasmic reticulum|integral to membrane p.G331R(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TCATGAATATGGGCAATATAT 0.368000 21 48 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69034512 69034512 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:69034512G>T ENST00000295381.3 + 5 990 c.571G>T c.(571-573)Ggc>Tgc p.G191C ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184C|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192C NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 191 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.G185C(2)|p.G192C(2) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CCTGGAGCACGGCCGGAATGA 0.582000 236 314 1.27626e-126 2.04975e-126 1 1 0 RMND5A 64795 broad.mit.edu 37 2 86997154 86997154 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:86997154C>G ENST00000283632.4 + 7 1358 c.863C>G c.(862-864)gCa>gGa p.A288G RMND5A_ENST00000472843.1_3'UTR NM_022780.3 NP_073617.1 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog A (S. cerevisiae) 288 p.A288G(2) kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 AGTTTCTCAGCAGGTTGTGTG 0.502000 127 234 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262398 158262398 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:158262398C>A ENST00000368170.3 + 4 902 c.623C>A c.(622-624)gCc>gAc p.A208D NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 208 Ig-like. 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 p.A208D(2) 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) AGGCCAGAAGCCTGGCTGTCC 0.512000 92 237 1.81242e-41 2.56155e-41 1 1 0 ALS2 57679 broad.mit.edu 37 2 202593271 202593271 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:202593271C>A ENST00000264276.6 - 15 3177 c.2805G>T c.(2803-2805)tgG>tgT p.W935C ALS2_ENST00000457679.2_Missense_Mutation_p.W247C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 935 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity p.W935C(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AGAGAATGAACCAATTCACGG 0.483000 100 54 3.01496e-42 4.28016e-42 1 1 0 NR0B1 190 broad.mit.edu 37 X 30327006 30327006 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:30327006C>A ENST00000378970.4 - 1 709 c.475G>T c.(475-477)Gct>Tct p.A159S NR0B1_ENST00000453287.1_Missense_Mutation_p.A159S NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 159 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding p.A159S(2) central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) GCTGCCGGAGCCACGTGCGTT 0.677000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 0.0477658 0.0480681 1 1 0 CPS1 1373 broad.mit.edu 37 2 211473091 211473091 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:211473091A>G ENST00000233072.5 + 19 2395 c.2199A>G c.(2197-2199)ccA>ccG p.P733P CPS1_ENST00000430249.2_Silent_p.P739P|CPS1_ENST00000451903.2_Silent_p.P282P NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 733 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.P739P(2)|p.P733P(2) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATAGCTACCCATTGGCATTCA 0.363000 201 89 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 7 176 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5411400 5411400 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:5411400T>A ENST00000328611.3 + 1 794 c.772T>A c.(772-774)Tgt>Agt p.C258S AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 258 integral to membrane olfactory receptor activity p.C258S(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGCTCCTCTCTGTGCTGTGCT 0.562000 29 465 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701585 23701585 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:23701585C>A ENST00000397312.2 - 5 779 c.505G>T c.(505-507)Ggg>Tgg p.G169W ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169W NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 169 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.G169W(2) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CGAATAAACCCTACACCCCTT 0.433000 106 121 1.14276e-43 1.63693e-43 1 1 0 MUC17 140453 broad.mit.edu 37 7 100681561 100681561 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:100681561C>G ENST00000306151.4 + 3 6928 c.6864C>G c.(6862-6864)caC>caG p.H2288Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2288 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.H2288Q(2) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTCAGCCACACGCTGGTGG 0.478000 140 243 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52761049 52761049 + Silent SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:52761049C>T ENST00000257901.3 - 1 216 c.141G>A c.(139-141)ggG>ggA p.G47G NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 47 Head. epidermis development keratin filament protein binding|structural molecule activity p.G47G(2) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCCGTCAGCCCTCGGTAGC 0.682000 6 18 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704149 6704149 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:6704149G>T ENST00000338694.2 - 7 1095 c.966C>A c.(964-966)caC>caA p.H322Q TEKT1_ENST00000535086.1_Missense_Mutation_p.H176Q NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 322 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.H322_R323>QG(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CGTTCGGCCGGTGTGTCCTGG 0.522000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 201 228 6.65626e-123 1.06366e-122 1 1 0 GPR50 9248 broad.mit.edu 37 X 150349744 150349744 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:150349744G>A ENST00000218316.3 + 2 1758 c.1689G>A c.(1687-1689)tcG>tcA p.S563S NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 563 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity p.S563S(1) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TCCCTGAGTCGGCCTCTAGCC 0.622000 6 243 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219920175 219920175 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:219920175G>A ENST00000295731.5 - 3 989 c.990C>T c.(988-990)gcC>gcT p.A330A NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 330 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity p.A330A(2) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGAGCGGGGCGTAGGCCC 0.682000 12 3 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65077169 65077169 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:65077169A>G ENST00000380985.5 + 6 921 c.743A>G c.(742-744)tAt>tGt p.Y248C NLN_ENST00000502464.1_Missense_Mutation_p.Y144C NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 248 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity p.Y248C(2) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TATCCACACTATTTCCCTGTC 0.328000 58 60 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17643134 17643134 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:17643134G>T ENST00000335393.4 + 4 480 c.342G>T c.(340-342)cgG>cgT p.R114R FAM129C_ENST00000600871.1_Silent_p.R60R|FAM129C_ENST00000599164.1_Silent_p.R83R|FAM129C_ENST00000595684.1_Silent_p.R114R|FAM129C_ENST00000300971.2_Silent_p.R114R|FAM129C_ENST00000352727.3_Silent_p.R114R|FAM129C_ENST00000599124.1_Silent_p.R83R|FAM129C_ENST00000332386.5_Silent_p.R114R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000601861.1_Silent_p.R83R|FAM129C_ENST00000449408.2_5'UTR NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 114 p.R114R(4) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 ACCCACCCCGGTGGCAGCCGA 0.647000 10 16 5.50884e-06 5.87856e-06 1 1 0 GRAMD1A 57655 broad.mit.edu 37 19 35500129 35500129 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:35500129A>G ENST00000599564.1 + 3 447 c.376A>G c.(376-378)Acc>Gcc p.T126A GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T39A|GRAMD1A_ENST00000598073.1_3'UTR Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 39 GRAM. integral to membrane p.T39A(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGAACCAGGCACCATGGTGGA 0.662000 17 16 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173255 5173255 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:5173255G>A ENST00000380367.1 - 2 762 c.345C>T c.(343-345)ggC>ggT p.G115G OR52A1_ENST00000328942.1_Silent_p.G115G Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 115 sensory perception of smell integral to plasma membrane olfactory receptor activity p.G115G(2) breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACAAGGATGCCTGACTCTA 0.448000 30 48 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48726111 48726111 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:48726111G>A ENST00000328631.5 - 6 1099 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 292 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.F292F(4) biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CATTGTGGAAGAACTGGAAAA 0.562000 12 72 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43907004 43907004 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:43907004T>C ENST00000562955.1 + 52 7293 c.7293T>C c.(7291-7293)ggT>ggC p.G2431G SZT2_ENST00000372442.1_Silent_p.G1589G NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2488 peroxisome p.G1589G(4)|p.G2431G(2) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGACTCCTGGTGGAGCTGAGC 0.572000 56 22 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76060929 76060929 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:76060929G>A ENST00000335749.4 + 4 3082 c.2513G>A c.(2512-2514)gGc>gAc p.G838D TNRC6C_ENST00000301624.4_Missense_Mutation_p.G841D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G841D NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 841 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding p.G841D(2)|p.G838D(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CCCAGCAGTGGCAGCGGGTGG 0.587000 15 140 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154060 22154060 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:22154060C>A ENST00000397126.4 - 4 3924 c.3776G>T c.(3775-3777)gGc>gTc p.G1259V ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.G1131V(4)|p.G1259V(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAGGCTTTGCCACATTCTTC 0.378000 20 71 1.15919e-05 1.23285e-05 1 1 0 CXorf61 203413 broad.mit.edu 37 X 115593061 115593061 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:115593061A>G ENST00000371894.4 - 2 335 c.189T>C c.(187-189)tcT>tcC p.S63S NM_001017978.2 NP_001017978.1 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 63 integral to membrane|plasma membrane p.S63S(3) breast(1)|large_intestine(3)|lung(8) 12 AAATATCCCGAGAGAGGTCGT 0.403000 171 483 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54742922 54742922 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:54742922C>A ENST00000396365.2 - 8 1392 c.1353G>T c.(1351-1353)atG>atT p.M451I LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.M434I|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron NM_024318.2 NP_077294.2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 p.M451I(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGCCATGCCCATGCGGATGA 0.577000 31 22 6.21074e-16 7.53823e-16 1 1 0 WRAP53 55135 broad.mit.edu 37 17 7592605 7592605 + Silent SNP C C T rs147817526 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:7592605C>T ENST00000316024.5 + 2 2843 c.495C>T c.(493-495)agC>agT p.S165S WRAP53_ENST00000457584.2_Silent_p.S165S|WRAP53_ENST00000431639.2_Silent_p.S165S|WRAP53_ENST00000534050.1_Intron|WRAP53_ENST00000396463.2_Silent_p.S165S Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 165 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding p.S165S(2) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 CAGAGTTCAGCACCCAACCTG 0.517000 14 28 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98449098 98449098 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:98449098C>T ENST00000450876.1 - 6 2015 c.700G>A c.(700-702)Gag>Aag p.E234K TMEM130_ENST00000546258.1_Missense_Mutation_p.E299K|TMEM130_ENST00000339375.4_Missense_Mutation_p.E318K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E216K|TMEM130_ENST00000416379.2_Missense_Mutation_p.E318K Q8N3G9 TM130_HUMAN transmembrane protein 130 318 Golgi membrane|integral to membrane p.E318K(2) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATGATATTCTCGGCCCGGATG 0.592000 109 165 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181480554 181480554 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:181480554G>A ENST00000526775.1 + 3 585 c.420G>A c.(418-420)ggG>ggA p.G140G CACNA1E_ENST00000357570.5_Silent_p.G91G|CACNA1E_ENST00000358338.5_Silent_p.G91G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.G140G|CACNA1E_ENST00000367573.2_Silent_p.G140G|CACNA1E_ENST00000367570.1_Silent_p.G140G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 140 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.G140G(4) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGAAGCTGGGATCAAAATTG 0.493000 140 346 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59469394 59469394 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:59469394G>A ENST00000588462.1 + 25 2761 c.2761G>A c.(2761-2763)Ggc>Agc p.G921S BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000588874.1_Missense_Mutation_p.G655S|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000407086.3_Missense_Mutation_p.G884S|BCAS3_ENST00000408905.3_Missense_Mutation_p.G906S|BCAS3_ENST00000390652.5_Missense_Mutation_p.G899S|BCAS3_ENST00000585744.1_Missense_Mutation_p.G670S Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 899 nucleus p.G899S(1) NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CTCCACCAGCGGCAGCATACC 0.582000 5 15 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171257993 171257993 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:171257993G>T ENST00000334231.6 + 18 1948 c.1948G>T c.(1948-1950)Gcc>Tcc p.A650S MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A641S|MYO3B_ENST00000409044.3_Missense_Mutation_p.A641S Q8WXR4 MYO3B_HUMAN myosin IIIB 641 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity p.A641S(4) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTTTCAGCTGCCTCTGTTCT 0.502000 120 71 7.68471e-68 1.16368e-67 1 1 0 TNR 7143 broad.mit.edu 37 1 175331945 175331945 + Splice_Site SNP A A C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:175331945A>C ENST00000367674.1 - 14 3416 c.2707_splice c.e14-1 p.V903_splice TNR_ENST00000263525.2_Splice_Site_p.V903_splice NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 903 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.V903G(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TAGTCGTCCCACTGGAGAAGA 0.488000 112 251 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:7578469C>A ENST00000420246.2 - 5 593 c.461G>T c.(460-462)gGc>gTc p.G154V TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 154 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and 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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(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) GACGCGGGTGCCGGGCGGGGG 0.607000 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) 65 44 4.38691e-48 6.42874e-48 1 1 0 NRK 203447 broad.mit.edu 37 X 105189911 105189911 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:105189911T>C ENST00000428173.2 + 25 4413 c.4110T>C c.(4108-4110)taT>taC p.Y1370Y NRK_ENST00000243300.9_Silent_p.Y1369Y Q7Z2Y5 NRK_HUMAN Nik related kinase 1369 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.Y1369Y(2)|p.Y1370Y(2) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACATGTCCTATCAAGCCTATA 0.438000 HNSCC(51;0.14) 31 164 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925554 54925554 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:54925554C>A ENST00000293373.6 + 25 2805 c.2726C>A c.(2725-2727)aCc>aAc p.T909N NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T859N NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 909 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.T909N(2) 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 AAGCGCATGACCATCATTGGG 0.493000 37 102 2.46787e-29 3.28361e-29 1 1 0 ZNF611 81856 broad.mit.edu 37 19 53208559 53208559 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:53208559G>C ENST00000543227.1 - 6 2023 c.1749C>G c.(1747-1749)tgC>tgG p.C583W ZNF611_ENST00000453741.2_Missense_Mutation_p.C514W|ZNF611_ENST00000319783.1_Missense_Mutation_p.C583W|ZNF611_ENST00000540744.1_Missense_Mutation_p.C583W|ZNF611_ENST00000602162.1_Missense_Mutation_p.C514W|ZNF611_ENST00000595798.1_Missense_Mutation_p.C514W NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C583W(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) CTCTATGATGGCATACAAGGT 0.423000 471 427 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11701094 11701094 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:11701094G>T ENST00000262442.3 + 43 8472 c.8404G>T c.(8404-8406)Gat>Tat p.D2802Y DNAH9_ENST00000454412.2_Missense_Mutation_p.D2802Y NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2802 AAA 4 (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 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) TCTCTTTGAGGATGCCATGCG 0.493000 13 323 1.37285e-15 1.65995e-15 1 1 0 TENM2 57451 broad.mit.edu 37 5 167489067 167489067 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:167489067C>A ENST00000519204.1 + 6 1067 c.949C>A c.(949-951)Ccc>Acc p.P317T TENM2_ENST00000403607.2_Missense_Mutation_p.P271T|TENM2_ENST00000520394.1_Missense_Mutation_p.P206T|TENM2_ENST00000518659.1_Missense_Mutation_p.P438T|TENM2_ENST00000545108.1_Missense_Mutation_p.P438T teneurin transmembrane protein 2 p.P271T(1)|p.P317T(1)|p.P438T(1) TTTTTCAGTGCCCTGGTCGTT 0.408000 9 35 1.08611e-07 1.18557e-07 0.387290 1 0 ITGAM 3684 broad.mit.edu 37 16 31273080 31273080 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:31273080G>T ENST00000544665.3 + 2 167 c.96G>T c.(94-96)agG>agT p.R32S ITGAM_ENST00000287497.8_Missense_Mutation_p.R32S NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 32 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.R32S(2) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGAACGCAAGGGGCTTCGGGC 0.517000 16 39 2.94398e-08 3.24928e-08 0.557998 1 0 KIAA1109 84162 broad.mit.edu 37 4 123229169 123229169 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:123229169C>A ENST00000264501.4 + 58 10280 c.9907C>A c.(9907-9909)Cat>Aat p.H3303N KIAA1109_ENST00000388738.3_Missense_Mutation_p.H3303N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H3303N Q2LD37 K1109_HUMAN KIAA1109 3303 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.H3303N(2) 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 AATGGCTTTACATAAGGATAT 0.413000 56 129 2.19297e-23 3.01154e-23 0.870114 1 0 NFATC2 4773 broad.mit.edu 37 20 50092041 50092041 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:50092041T>C ENST00000371564.3 - 4 1708 c.1489A>G c.(1489-1491)Aaa>Gaa p.K497E NFATC2_ENST00000396009.3_Missense_Mutation_p.K497E|NFATC2_ENST00000414705.1_Missense_Mutation_p.K477E NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 497 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.K497E(2) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCCAGGACTTTGGTGTTGCCC 0.572000 118 125 0 0 0.870114 0 0 ADCK2 90956 broad.mit.edu 37 7 140380905 140380905 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:140380905G>C ENST00000072869.4 + 4 1451 c.1273G>C c.(1273-1275)Gca>Cca p.A425P ADCK2_ENST00000476491.1_Missense_Mutation_p.A425P NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 425 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity p.A425P(2) cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) AAGGAAGATTGCACGGCTGGG 0.567000 25 63 0 0 0.717897 0 0 F8 2157 broad.mit.edu 37 X 154158393 154158393 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:154158393G>T ENST00000360256.4 - 14 3872 c.3672C>A c.(3670-3672)atC>atA p.I1224I NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1224 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.I1224I(4) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATTCTCTTGGATTAATGTTT 0.313000 13 38 2.27111e-07 2.47004e-07 0.411799 1 0 MAP7D3 79649 broad.mit.edu 37 X 135318499 135318499 + Splice_Site SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:135318499C>A ENST00000316077.9 - 7 861 c.e7-1 MAP7D3_ENST00000370663.5_Splice_Site|MAP7D3_ENST00000370661.1_Splice_Site NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 cytoplasm|spindle p.?(1) central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TCTGTTTTCCCTAGAGAGCAA 0.353000 56 124 1.0442e-30 1.54811e-30 0.870114 1 0 NTRK1 4914 broad.mit.edu 37 1 156845459 156845459 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:156845459G>T ENST00000368196.3 + 11 1603 c.e11+1 NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site|NTRK1_ENST00000524377.1_Splice_Site NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.?(4) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGTGATGCCTGTGAGGGGCTA 0.577000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 43 93 2.68985e-26 3.87235e-26 0.870114 1 0 MAP10 54627 broad.mit.edu 37 1 232941151 232941151 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:232941151T>G ENST00000418460.1 + 1 509 c.382T>G c.(382-384)Ttc>Gtc p.F128V NM_019090.2 NP_061963.2 microtubule-associated protein 10 p.F128V(2) GGGCTTCAGCTTCTCGTTTGC 0.657000 20 46 0 0 0.608945 0 0 AKR1B15 441282 broad.mit.edu 37 7 134261164 134261164 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:134261164C>A ENST00000457545.2 + 9 1067 c.807C>A c.(805-807)caC>caA p.H269Q AKR1B15_ENST00000423958.1_Missense_Mutation_p.H241Q NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 269 oxidoreductase activity p.H269Q(2)|p.H241Q(2)|p.H287Q(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CTGCAAAGCACAAAAAAACCA 0.443000 15 76 0.00244969 0.00251727 0.457914 1 0 C3orf27 23434 broad.mit.edu 37 3 128292256 128292256 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:128292256T>C ENST00000356020.2 - 3 1283 c.317A>G c.(316-318)cAc>cGc p.H106R NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 106 p.H106R(2) large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) AGGCCCACAGTGGCACAGCAG 0.577000 73 144 0 0 0.870114 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695897 64695897 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:64695897G>T ENST00000164133.2 + 6 1344 c.722_splice c.e6+1 p.R241_splice NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 241 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.R241L(2) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 ATCTTCCTCCGGTGAGTGGCT 0.607000 61 124 1.53276e-45 2.55174e-45 0.870114 1 0 FAT3 120114 broad.mit.edu 37 11 92623916 92623916 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:92623916C>A ENST00000298047.6 + 27 13424 c.13407C>A c.(13405-13407)tcC>tcA p.S4469S FAT3_ENST00000525166.1_Silent_p.S4319S|FAT3_ENST00000533797.1_Silent_p.S772S|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Silent_p.S4437S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4469 Pro-rich. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.S1044S(2)|p.S4437S(2)|p.S4469S(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGCCACCCTCCCAGCCTGTCT 0.592000 TCGA Ovarian(4;0.039) 18 32 2.35188e-11 2.71651e-11 0.539581 1 0 SH3PXD2A 9644 broad.mit.edu 37 10 105361828 105361828 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:105361828C>G ENST00000369774.4 - 15 3423 c.3147G>C c.(3145-3147)caG>caC p.Q1049H SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q1021H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q916H|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q884H Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 1049 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding p.Q1021H(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TGCTGTTGCGCTGGGCGGGCA 0.622000 128 160 0 0 0.870114 0 0 CAPN6 827 broad.mit.edu 37 X 110496262 110496262 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:110496262A>G ENST00000324068.1 - 4 647 c.480T>C c.(478-480)aaT>aaC p.N160N CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 160 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding p.N160N(2) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCAGCAGAGCATTCCAAAACT 0.428000 47 115 0 0 0.870114 0 0 ATP2B2 491 broad.mit.edu 37 3 10382279 10382279 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:10382279G>A ENST00000397077.1 - 19 3467 c.2892C>T c.(2890-2892)aaC>aaT p.N964N ATP2B2_ENST00000383800.4_Silent_p.N964N|ATP2B2_ENST00000352432.4_Silent_p.N1009N|ATP2B2_ENST00000343816.4_Silent_p.N995N|ATP2B2_ENST00000360273.2_Silent_p.N1009N Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1009 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding p.N1009N(2)|p.N964N(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGTTGATCTCGTTGAAGAGCT 0.562000 44 175 0 0 0.847076 0 0 NUP43 348995 broad.mit.edu 37 6 150057694 150057694 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:150057694T>C ENST00000340413.2 - 6 779 c.703A>G c.(703-705)Act>Gct p.T235A NUP43_ENST00000460354.2_Missense_Mutation_p.T235A|NUP43_ENST00000367404.4_Intron|NUP43_ENST00000367403.3_3'UTR NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 235 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.T235A(2) 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) TGGCCACCAGTAGCTACAACA 0.438000 27 101 0 0 0.693898 0 0 TNRC6C 57690 broad.mit.edu 37 17 76060929 76060929 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:76060929G>A ENST00000335749.4 + 4 3082 c.2513G>A c.(2512-2514)gGc>gAc p.G838D TNRC6C_ENST00000301624.4_Missense_Mutation_p.G841D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G841D NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 841 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding p.G841D(2)|p.G838D(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CCCAGCAGTGGCAGCGGGTGG 0.587000 30 209 0 0 0.740014 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 7 21 8.12818e-05 8.46923e-05 0.248553 1 0 OTUD6A 139562 broad.mit.edu 37 X 69282756 69282756 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:69282756G>C ENST00000338352.2 + 1 416 c.382G>C c.(382-384)Gag>Cag p.E128Q NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 128 p.E128Q(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 CAAGCGCGAGGAGGAGGAGAA 0.627000 6 18 0 0 0.278610 0 0 PDE1C 5137 broad.mit.edu 37 7 31864557 31864557 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:31864557C>A ENST00000396184.3 - 14 1534 c.1330G>T c.(1330-1332)Gac>Tac p.D444Y PDE1C_ENST00000396193.1_Missense_Mutation_p.D504Y|PDE1C_ENST00000321453.7_Missense_Mutation_p.D444Y|PDE1C_ENST00000396191.1_Missense_Mutation_p.D444Y|PDE1C_ENST00000396182.2_Missense_Mutation_p.D444Y NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 444 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.D444Y(2)|p.D504Y(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TCGGTCATGTCCGTAAGCACA 0.488000 57 165 2.37494e-14 2.87696e-14 0.870114 1 0 TTN 7273 broad.mit.edu 37 2 179472803 179472803 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:179472803G>A ENST00000589042.1 - 276 52935 c.52711C>T c.(52711-52713)Cct>Tct p.P17571S TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8506S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15003S|TTN_ENST00000342175.6_Missense_Mutation_p.P8698S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15930S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8631S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15930 Fibronectin type-III 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) GGTGGCCCAGGAGGAGCTAGA 0.423000 3 36 0 0 0.115264 0 0 TNFSF9 8744 broad.mit.edu 37 19 6535039 6535039 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:6535039G>C ENST00000245817.3 + 3 765 c.727G>C c.(727-729)Gaa>Caa p.E243Q NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 243 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding p.E243Q(1) central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 GGTGACCCCCGAAATCCCAGC 0.632000 9 48 0 0 0.335167 0 0 THBS2 7058 broad.mit.edu 37 6 169623382 169623382 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:169623382G>T ENST00000366787.3 - 19 3211 c.2962C>A c.(2962-2964)Ctg>Atg p.L988M THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 988 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.L988M(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) GTCTGAACCAGCTCCTTGCCT 0.582000 49 124 7.77092e-38 1.24502e-37 0.870114 1 0 AGMO 392636 broad.mit.edu 37 7 15601381 15601381 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:15601381G>C ENST00000342526.3 - 1 259 c.90C>G c.(88-90)ttC>ttG p.F30L NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 30 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding p.F30L(2) breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CTAATGTTTGGAATGAAGTTT 0.403000 29 75 0 0 0.729181 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811180 5811180 + Missense_Mutation SNP C C G rs4017999 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:5811180C>G ENST00000381095.3 - 6 2756 c.2129G>C c.(2128-2130)cGc>cCc p.R710P NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730P NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 710 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.R710P(2) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGGACTGGGGCGCCTGTGAGT 0.532000 50 141 0 0 0.870114 0 0 RIMS2 9699 broad.mit.edu 37 8 104709469 104709469 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:104709469G>C ENST00000406091.3 + 2 332 c.332G>C c.(331-333)tGc>tCc p.C111S NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 142 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.C111S(2)|p.C147S(2) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGTTCATATTGCCAAACAAAG 0.423000 HNSCC(12;0.0054) 50 219 0 0 0.870114 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899874 151899874 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:151899874A>G ENST00000393900.3 - 3 1280 c.927T>C c.(925-927)ttT>ttC p.F309F CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.F309F|MAGEA12_ENST00000357916.4_Silent_p.F309F NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 309 p.F309F(2) breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCCCCTCTCTAAAAGCCCATT 0.557000 131 282 0 0 0.870114 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72038818 72038818 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:72038818T>A ENST00000378743.3 - 4 1476 c.1118A>T c.(1117-1119)cAg>cTg p.Q373L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 373 RNA processing intracellular metal ion binding p.Q373L(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AAGGCGAAGCTGTAATTCAGA 0.333000 11 37 0 0 0.361761 0 0 SYNRG 11276 broad.mit.edu 37 17 35913820 35913820 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:35913820C>T ENST00000339208.6 - 14 2145 c.2005G>A c.(2005-2007)Gat>Aat p.D669N SYNRG_ENST00000585472.1_Missense_Mutation_p.D590N|SYNRG_ENST00000502449.2_Missense_Mutation_p.D591N|SYNRG_ENST00000346661.4_Missense_Mutation_p.D669N|SYNRG_ENST00000394378.2_Missense_Mutation_p.D591N|SYNRG_ENST00000345615.4_Missense_Mutation_p.D591N|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Missense_Mutation_p.D508N NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 669 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCTCCAAAATCATCAGCCAAA 0.413000 7 125 0 0 0.248553 0 0 TIFAB 497189 broad.mit.edu 37 5 134785501 134785501 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:134785501G>T ENST00000537858.1 - 2 329 c.129C>A c.(127-129)gaC>gaA p.D43E NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 43 FHA. p.D43E(2) breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGGTGGGCGTCCTGCCCCC 0.657000 90 49 2.08528e-44 3.43322e-44 0.870114 1 0 BCL11B 64919 broad.mit.edu 37 14 99641683 99641683 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:99641683G>A ENST00000345514.2 - 3 1543 c.1277C>T c.(1276-1278)tCc>tTc p.S426F BCL11B_ENST00000357195.3_Missense_Mutation_p.S497F|BCL11B_ENST00000443726.2_Missense_Mutation_p.S303F NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 497 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GGGCTCGGGGGAGCTGGCGGC 0.736000 T TLX3 T-ALL 4 5 0 0 0.217242 0 0 CNTN6 27255 broad.mit.edu 37 3 1427297 1427297 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:1427297C>A ENST00000446702.2 + 20 3147 c.2520C>A c.(2518-2520)gtC>gtA p.V840V CNTN6_ENST00000350110.2_Silent_p.V840V|CNTN6_ENST00000539053.1_Silent_p.V768V Q9UQ52 CNTN6_HUMAN contactin 6 840 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.V840V(2) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTATCAGGTCTTATACTGGA 0.358000 12 83 0.00136819 0.0014108 0.411799 1 0 SIMC1 375484 broad.mit.edu 37 5 175763780 175763780 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:175763780C>A ENST00000443967.1 + 10 2579 c.2172C>A c.(2170-2172)atC>atA p.I724I SIMC1_ENST00000430704.2_Silent_p.I309I|SIMC1_ENST00000341199.6_Silent_p.I309I|SIMC1_ENST00000332772.4_Silent_p.I185I SUMO-interacting motifs containing 1 p.I724I(2) TGTTAGAAATCATATTCCTCC 0.483000 188 84 1.94348e-87 3.468e-87 0.870114 1 0 NAV2 89797 broad.mit.edu 37 11 19955796 19955796 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:19955796C>A ENST00000396085.1 + 7 2367 c.2006C>A c.(2005-2007)aCt>aAt p.T669N NAV2_ENST00000527559.2_Missense_Mutation_p.T621N|NAV2_ENST00000360655.4_Missense_Mutation_p.T605N|NAV2_ENST00000349880.4_Missense_Mutation_p.T669N|NAV2_ENST00000396087.3_Missense_Mutation_p.T692N|NAV2_ENST00000540292.1_Missense_Mutation_p.T623N NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 692 nucleus ATP binding|helicase activity p.T692N(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATCCCAACACTGCCACGGTT 0.552000 32 80 1.08312e-15 1.34487e-15 0.740014 1 0 HAUS4 54930 broad.mit.edu 37 14 23421768 23421768 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:23421768T>C ENST00000206474.7 - 3 432 c.180A>G c.(178-180)ctA>ctG p.L60L HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000541587.1_Silent_p.L60L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000347758.2_Silent_p.L60L|HAUS4_ENST00000555367.1_Silent_p.L60L|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000342454.8_Silent_p.L60L|HAUS4_ENST00000555986.1_Silent_p.L60L|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000397409.4_Silent_p.L60L|RP11-298I3.1_ENST00000548819.1_RNA Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 60 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle p.L60L(2) breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 GCTCCTTTGCTAGGGTGAGGC 0.468000 99 165 0 0 0.870114 0 0 CSMD2 114784 broad.mit.edu 37 1 34312507 34312507 + Silent SNP G G A rs143306375 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:34312507G>A ENST00000373381.4 - 6 1187 c.1011C>T c.(1009-1011)cgC>cgT p.R337R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 297 integral to membrane|plasma membrane protein binding p.R297R(2) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACTGAATCCGCGCTGCCGGT 0.607000 113 61 0 0 0.870114 0 0 TMEM117 84216 broad.mit.edu 37 12 44781901 44781901 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:44781901G>C ENST00000266534.3 + 8 1118 c.991G>C c.(991-993)Ggg>Cgg p.G331R TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 331 endoplasmic reticulum|integral to membrane p.G331R(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TCATGAATATGGGCAATATAT 0.368000 11 37 0 0 0.361761 0 0 MCM3AP 8888 broad.mit.edu 37 21 47699995 47699995 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr21:47699995T>C ENST00000397708.1 - 5 1833 c.1579A>G c.(1579-1581)Agc>Ggc p.S527G MCM3AP_ENST00000291688.1_Missense_Mutation_p.S527G O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 527 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding p.S527G(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GTGCTCGGGCTGACTTCACCG 0.532000 108 228 0 0 0.870114 0 0 AIFM1 9131 broad.mit.edu 37 X 129264072 129264072 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:129264072G>A ENST00000287295.3 - 15 1873 c.1643C>T c.(1642-1644)cCg>cTg p.P548L AIFM1_ENST00000319908.3_Missense_Mutation_p.P544L|AIFM1_ENST00000440263.1_Missense_Mutation_p.P196L|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.P209L|AIFM1_ENST00000346424.2_Missense_Mutation_p.P261L NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 548 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.P544L(2)|p.P548L(2) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 TGGAACTGCCGGGGTGCTGGG 0.542000 236 501 0 0 0.870114 0 0 RASA2 5922 broad.mit.edu 37 3 141259374 141259374 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:141259374G>T ENST00000286364.3 + 5 485 c.e5-1 RASA2_ENST00000452898.1_Splice_Site Q15283 RASA2_HUMAN RAS p21 protein activator 2 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.?(4) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TGTCATTATAGGGTAAAGTTC 0.328000 10 19 5.50884e-06 5.84211e-06 0.411799 1 0 GABRA5 2558 broad.mit.edu 37 15 27128556 27128556 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:27128556C>T ENST00000335625.5 + 6 1237 c.349C>T c.(349-351)Cgc>Tgc p.R117C GABRA5_ENST00000355395.5_Missense_Mutation_p.R117C|GABRA5_ENST00000400081.3_Missense_Mutation_p.R117C|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 117 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R117C(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCCCATGCAGCGCCTCCCTCT 0.537000 67 145 0 0 0.870114 0 0 DNAH7 56171 broad.mit.edu 37 2 196636546 196636546 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:196636546C>A ENST00000312428.6 - 61 11371 c.11271G>T c.(11269-11271)ttG>ttT p.L3757F DNAH7_ENST00000409063.1_Missense_Mutation_p.L240F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3757 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L3757F(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 GAAGTTTGCCCAAGATGTCAC 0.443000 193 127 8.81055e-89 1.59124e-88 0.870114 1 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 7 21 0 0 0.248553 0 0 SEC24D 9871 broad.mit.edu 37 4 119659495 119659495 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:119659495C>A ENST00000379735.5 - 19 2691 c.2420G>T c.(2419-2421)cGg>cTg p.R807L SEC24D_ENST00000419654.2_Missense_Mutation_p.R362L|SEC24D_ENST00000280551.6_Missense_Mutation_p.R806L|SEC24D_ENST00000511481.1_Missense_Mutation_p.R437L|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.R362L NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 806 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.R806L(2) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TAGAATTTCCCGGATGACCTT 0.423000 38 78 1.49673e-21 2.01822e-21 0.819951 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 73 0 0 0.150653 0 0 EMC1 23065 broad.mit.edu 37 1 19564614 19564614 + Missense_Mutation SNP T T C rs144675935 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:19564614T>C ENST00000477853.1 - 11 1151 c.1109A>G c.(1108-1110)aAt>aGt p.N370S RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.N369S|EMC1_ENST00000375208.3_Missense_Mutation_p.N348S NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 p.N370S(2) GTAGGTCTGATTGAAGCAAGC 0.547000 20 60 0 0 0.608945 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149131 52149131 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:52149131G>T ENST00000360844.6 - 3 645 c.604C>A c.(604-606)Ccc>Acc p.P202T SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 202 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.P202T(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TCGGGCCTGGGGGTGAGGGTG 0.627000 50 44 9.40368e-32 1.4153e-31 0.870114 1 0 HEPH 9843 broad.mit.edu 37 X 65420411 65420411 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:65420411C>T ENST00000519389.1 + 12 2235 c.2056C>T c.(2056-2058)Ccc>Tcc p.P686S HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.P635S|HEPH_ENST00000336279.5_Missense_Mutation_p.P365S|HEPH_ENST00000441993.2_Missense_Mutation_p.P635S|HEPH_ENST00000343002.2_Missense_Mutation_p.P632S Q9BQS7 HEPH_HUMAN hephaestin 632 Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.P632S(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CTCTAACCTGCCCAGGCTGGA 0.547000 21 29 0 0 0.592651 0 0 MKI67 4288 broad.mit.edu 37 10 129904904 129904904 + Nonsense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:129904904T>A ENST00000368654.3 - 13 5575 c.5200A>T c.(5200-5202)Aaa>Taa p.K1734* MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1374* NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1734 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding p.K1734*(2) 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) TAGGATACTTTGGTAGTTTTT 0.488000 55 75 0 0 0.870114 0 0 USP11 8237 broad.mit.edu 37 X 47107098 47107098 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:47107098G>T ENST00000377107.2 + 20 2979 c.2625_splice c.e20+1 p.E875_splice USP11_ENST00000218348.3_Splice_Site_p.E918_splice P51784 UBP11_HUMAN ubiquitin specific peptidase 11 918 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.E918D(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 ATCAGATCGAGGTGTGACTTC 0.537000 79 161 2.73218e-42 4.47357e-42 0.870114 1 0 CYP4F22 126410 broad.mit.edu 37 19 15651310 15651310 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:15651310G>T ENST00000269703.2 + 8 920 c.721G>T c.(721-723)Gtc>Ttc p.V241F CYP4F22_ENST00000601005.2_Missense_Mutation_p.V241F NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 241 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.V241F(2) endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CGCTCTGTCTGTCCGGCGCCA 0.557000 37 125 4.65686e-17 5.93054e-17 0.788014 1 0 MTR 4548 broad.mit.edu 37 1 237052487 237052487 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:237052487C>T ENST00000366577.5 + 28 3252 c.2858C>T c.(2857-2859)cCc>cTc p.P953L MTR_ENST00000535889.1_Missense_Mutation_p.P902L NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 953 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.P953L(2) 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) GTAGTGAAGCCCACGTTTATT 0.557000 74 215 0 0 0.870114 0 0 PRKAA1 5562 broad.mit.edu 37 5 40798230 40798230 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:40798230C>A ENST00000397128.2 - 1 70 c.62G>T c.(61-63)cGg>cTg p.R21L PRKAA1_ENST00000354209.3_Missense_Mutation_p.R21L|PRKAA1_ENST00000296800.4_Missense_Mutation_p.R12L NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 21 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding p.R21L(2) breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) GATCTTCACCCGCCCGTCGTG 0.667000 22 47 2.47511e-08 2.74194e-08 0.729181 1 0 B4GALNT1 2583 broad.mit.edu 37 12 58023958 58023958 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:58023958T>C ENST00000341156.4 - 6 1273 c.689A>G c.(688-690)tAc>tGc p.Y230C B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Y175C|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Y230C NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 230 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.Y230C(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GTTGGTCTGGTAGCTTCGGCT 0.572000 21 103 0 0 0.769981 0 0 RALGAPB 57148 broad.mit.edu 37 20 37126007 37126007 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:37126007G>T ENST00000262879.6 + 4 685 c.401G>T c.(400-402)gGt>gTt p.G134V RALGAPB_ENST00000537204.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G134V Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 134 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.G134V(2) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGGAACAGGGTTCCAGTCAG 0.498000 34 47 1.56442e-22 2.12875e-22 0.760397 1 0 MUC16 94025 broad.mit.edu 37 19 9021116 9021116 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:9021116C>A ENST00000397910.4 - 19 37410 c.37207G>T c.(37207-37209)Gag>Tag p.E12403* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12405 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E12403*(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 CCCATGTCCTCCCCATACTGC 0.552000 25 144 4.4004e-07 4.75116e-07 0.654019 1 0 EXOSC7 23016 broad.mit.edu 37 3 45038682 45038682 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:45038682G>T ENST00000265564.7 + 4 406 c.358G>T c.(358-360)Gac>Tac p.D120Y EXOSC7_ENST00000461361.1_3'UTR NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 120 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding p.D120Y(2) endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) AAGCAGTGTCGACTTAAAGAC 0.488000 59 111 7.47603e-22 1.01266e-21 0.870114 1 0 PCDH19 57526 broad.mit.edu 37 X 99551355 99551355 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:99551355G>T ENST00000373034.4 - 6 5042 c.3367C>A c.(3367-3369)Cat>Aat p.H1123N PCDH19_ENST00000420881.2_Missense_Mutation_p.H1075N|PCDH19_ENST00000255531.7_Missense_Mutation_p.H1076N NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1123 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H1123N(1)|p.H576N(1) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CTGACCTCATGCATGACTTTC 0.527000 128 292 1.22322e-63 2.09493e-63 0.870114 1 0 ZNF208 7757 broad.mit.edu 37 19 22154060 22154060 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:22154060C>A ENST00000397126.4 - 4 3924 c.3776G>T c.(3775-3777)gGc>gTc p.G1259V ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.G1131V(4)|p.G1259V(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAGGCTTTGCCACATTCTTC 0.378000 9 35 0.00448238 0.00457448 0.307466 1 0 TLR6 10333 broad.mit.edu 37 4 38831004 38831004 + Nonsense_Mutation SNP C C A rs138225547 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:38831004C>A ENST00000436693.2 - 2 210 c.91G>T c.(91-93)Gga>Tga p.G31* TLR6_ENST00000381950.1_Nonsense_Mutation_p.G31* NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 31 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.G31*(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AATTCATTTCCGTCGGAGAAC 0.373000 68 143 2.49587e-40 4.06431e-40 0.870114 1 0 FLNC 2318 broad.mit.edu 37 7 128496848 128496848 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:128496848C>A ENST00000325888.8 + 45 7695 c.7434C>A c.(7432-7434)atC>atA p.I2478I RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2445I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2478 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.I2478I(2) 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 TCCACTCCATCGATGTCAAGT 0.592000 35 66 4.14481e-20 5.51408e-20 0.819951 1 0 GABBR2 9568 broad.mit.edu 37 9 101235551 101235551 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:101235551C>A ENST00000259455.2 - 6 1335 c.876G>T c.(874-876)caG>caT p.Q292H GABBR2_ENST00000477471.1_5'UTR NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 292 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.Q292H(2) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CCGTGTGCACCTGCTCCCACC 0.537000 40 57 1.91236e-09 2.16685e-09 0.847076 1 0 CDH23 64072 broad.mit.edu 37 10 73270728 73270728 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:73270728C>A ENST00000224721.6 + 4 311 c.306C>A c.(304-306)acC>acA p.T102T CDH23_ENST00000299366.7_Silent_p.T147T|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Silent_p.T147T|CDH23_ENST00000398809.4_Silent_p.T102T|CDH23_ENST00000398842.3_Silent_p.T102T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 102 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.T102T(4) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGAGTTCACCGTGGAGTTCT 0.617000 60 140 4.79706e-38 7.72716e-38 0.870114 1 0 CACNA1C 775 broad.mit.edu 37 12 2224402 2224402 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:2224402G>C ENST00000399655.1 + 2 327 c.62G>C c.(61-63)gGg>gCg p.G21A CACNA1C_ENST00000335762.5_Missense_Mutation_p.G21A|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G21A|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G21A|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G21A|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G21A|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G21A|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G21A NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 21 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.G21A(3)|p.G51A(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCCAACTATGGGAGCCCACGC 0.582000 5 2 0 0 0.184627 0 0 CSMD3 114788 broad.mit.edu 37 8 113988081 113988081 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:113988081C>A ENST00000297405.5 - 7 1571 c.1327G>T c.(1327-1329)Gtt>Ttt p.V443F CSMD3_ENST00000343508.3_Missense_Mutation_p.V403F|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V443F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 443 integral to membrane|plasma membrane p.V403F(2)|p.V443F(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 TGAGTAACAACTGCAAGCTCT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 86 6.04164e-23 8.25876e-23 0.750413 1 0 FAM110A 83541 broad.mit.edu 37 20 825669 825669 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:825669G>T ENST00000304189.2 + 3 603 c.222G>T c.(220-222)caG>caT p.Q74H FAM110A_ENST00000381939.1_Missense_Mutation_p.Q74H|FAM110A_ENST00000246100.3_Missense_Mutation_p.Q74H|FAM110A_ENST00000541082.1_Missense_Mutation_p.Q74H|FAM110A_ENST00000381941.3_Missense_Mutation_p.Q74H Q9BQ89 F110A_HUMAN family with sequence similarity 110, member A 74 microtubule organizing center|spindle pole protein binding breast(1)|lung(2) 3 TGTCCAAACAGCCGCTCTTTA 0.687000 3 14 1.23904e-05 1.30934e-05 0.184627 1 0 C10orf71 118461 broad.mit.edu 37 10 50531828 50531828 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:50531828C>T ENST00000374144.3 + 3 1526 c.1238C>T c.(1237-1239)aCa>aTa p.T413I C10orf71_ENST00000323868.4_Missense_Mutation_p.T413I Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 413 p.T413I(2) endometrium(1) 1 CCTTTGTATACAAAACACAAC 0.438000 11 171 0 0 0.435327 0 0 OR2T10 127069 broad.mit.edu 37 1 248757058 248757058 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248757058G>T ENST00000330500.2 - 1 42 c.12C>A c.(10-12)gcC>gcA p.A4A NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A4A(2) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) GGGTCTGGTTGGCCAGCCGCA 0.458000 23 64 2.27525e-19 2.9738e-19 0.667858 1 0 OTUD7B 56957 broad.mit.edu 37 1 149915924 149915924 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:149915924C>A ENST00000369135.3 - 12 2658 c.2364G>T c.(2362-2364)tgG>tgT p.W788C NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 788 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding p.W788C(2) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GACCTCCAGCCCATCCATCTG 0.547000 64 209 2.43698e-19 3.17127e-19 0.870114 1 0 EPX 8288 broad.mit.edu 37 17 56270454 56270454 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:56270454G>C ENST00000225371.5 + 2 242 c.132G>C c.(130-132)aaG>aaC p.K44N NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 44 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding p.K44N(2) breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CAGAGGCCAAGTTGCTGGTGG 0.617000 112 269 0 0 0.870114 0 0 IRX6 79190 broad.mit.edu 37 16 55361675 55361675 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:55361675C>A ENST00000290552.7 + 4 1923 c.591C>A c.(589-591)ttC>ttA p.F197L IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 197 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F197L(2) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCACCTGGTTCGCCAACGCAC 0.577000 61 167 6.25564e-26 8.87705e-26 0.870114 1 0 IDS 3423 broad.mit.edu 37 X 148564704 148564704 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:148564704G>A ENST00000340855.6 - 9 1435 c.1226C>T c.(1225-1227)aCg>aTg p.T409M IDS_ENST00000541269.1_Missense_Mutation_p.T198M|IDS_ENST00000537071.1_Missense_Mutation_p.T12M|AF011889.5_ENST00000422081.1_RNA NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 409 lysosome iduronate-2-sulfatase activity|metal ion binding p.T409M(2) NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCAGCCAGCGTGGGAAAAAG 0.512000 43 110 0 0 0.870114 0 0 GPR98 84059 broad.mit.edu 37 5 89920950 89920950 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:89920950G>T ENST00000405460.2 + 6 658 c.562G>T c.(562-564)Gag>Tag p.E188* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 188 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.E188*(2) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGCAGGTAGAGGGTGGCCC 0.393000 18 13 6.94344e-10 7.92776e-10 0.539581 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64133210 64133210 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:64133210G>T ENST00000295902.6 - 7 1541 c.956C>A c.(955-957)tCt>tAt p.S319Y PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S375Y NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 319 cytoplasm|nuclear membrane zinc ion binding p.S319Y(2) breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGAGGAGTCAGAACCATTGGG 0.607000 65 294 1.43987e-31 2.15618e-31 0.870114 1 0 OR14I1 401994 broad.mit.edu 37 1 248845133 248845133 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248845133G>T ENST00000342623.3 - 1 496 c.473C>A c.(472-474)aCt>aAt p.T158N NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T158N(2) NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CATGTTGCCAGTGTGGACGGC 0.547000 21 65 2.39556e-15 2.96215e-15 0.639603 1 0 KRT3 3850 broad.mit.edu 37 12 53189527 53189527 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:53189527G>T ENST00000417996.2 - 1 374 c.300C>A c.(298-300)ggC>ggA p.G100G KRT3_ENST00000309505.3_Silent_p.G100G NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 100 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.G100G(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 cacctccatagccgctcccaa 0.652000 68 136 6.75472e-32 1.02178e-31 0.870114 1 0 BPI 671 broad.mit.edu 37 20 36964032 36964032 + Missense_Mutation SNP C C A rs143433981 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:36964032C>A ENST00000262865.4 + 14 1470 c.1381C>A c.(1381-1383)Ccg>Acg p.P461T BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 461 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding p.P461T(2) kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTCCCGACGCCGGCCAGAGT 0.562000 72 103 4.81439e-37 7.67214e-37 0.870114 1 0 SSTR4 6754 broad.mit.edu 37 20 23016506 23016506 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:23016506A>T ENST00000255008.3 + 1 450 c.386A>T c.(385-387)aAc>aTc p.N129I RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 129 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.N129I(2) 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) GACGGCCTCAACATGTTCACC 0.701000 169 109 0 0 0.870114 0 0 C14orf105 55195 broad.mit.edu 37 14 57960335 57960335 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:57960335A>G ENST00000216445.3 - 1 235 c.99T>C c.(97-99)ttT>ttC p.F33F C14orf105_ENST00000526336.1_Silent_p.F33F|C14orf105_ENST00000534126.1_Silent_p.F33F|C14orf105_ENST00000422976.2_Silent_p.F33F NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 33 p.F33F(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 GATTGAATGCAAAGTCCACAC 0.463000 34 103 0 0 0.788014 0 0 OPRL1 4987 broad.mit.edu 37 20 62729409 62729409 + Missense_Mutation SNP C C A rs148381492 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:62729409C>A ENST00000349451.3 + 5 900 c.488C>A c.(487-489)aCg>aAg p.T163K OPRL1_ENST00000336866.2_Missense_Mutation_p.T163K|OPRL1_ENST00000355631.4_Missense_Mutation_p.T163K NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 163 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity p.T163K(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GACGTCCGCACGTCCAGCAAA 0.587000 58 78 4.13886e-29 6.10584e-29 0.870114 1 0 MYPN 84665 broad.mit.edu 37 10 69882001 69882001 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:69882001C>T ENST00000358913.5 + 2 1294 c.806C>T c.(805-807)cCc>cTc p.P269L MYPN_ENST00000373675.3_Missense_Mutation_p.P269L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P269L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 269 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding p.P269L(2) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGGCAACCTCCCCGGTTCACT 0.527000 24 117 0 0 0.639603 0 0 PLIN3 10226 broad.mit.edu 37 19 4859660 4859660 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:4859660T>C ENST00000221957.4 - 4 466 c.290A>G c.(289-291)cAc>cGc p.H97R PLIN3_ENST00000585479.1_Missense_Mutation_p.H97R|PLIN3_ENST00000592528.1_Missense_Mutation_p.H97R NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 97 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding p.H97R(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) CAGCCCCCTGTGGGCGTATTC 0.567000 20 101 0 0 0.667858 0 0 PTPRH 5794 broad.mit.edu 37 19 55716908 55716908 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:55716908G>T ENST00000376350.3 - 4 427 c.405C>A c.(403-405)atC>atA p.I135I PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 135 Fibronectin type-III 2. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.I135I(2) breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGGTCAGGGCGATGGAGCTGT 0.587000 73 78 1.07363e-35 1.67509e-35 0.870114 1 0 STX18 53407 broad.mit.edu 37 4 4458978 4458978 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:4458978C>G ENST00000306200.2 - 5 500 c.437G>C c.(436-438)tGt>tCt p.C146S STX18_ENST00000505286.1_Missense_Mutation_p.C146S NM_016930.2 NP_058626.1 Q9P2W9 STX18_HUMAN syntaxin 18 146 ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity p.C146S(2) large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) GTAAAGTTTACATACTCCTGT 0.353000 22 46 0 0 0.624587 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3684492 3684492 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:3684492G>A ENST00000344754.4 - 4 952 c.953C>T c.(952-954)cCc>cTc p.P318L SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P318L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 318 Ig-like C2-type 2. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.P318L(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GAGGCTGATGGGGGGTGAGAC 0.612000 51 76 0 0 0.870114 0 0 CCER1 196477 broad.mit.edu 37 12 91348044 91348044 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:91348044G>T ENST00000358859.2 - 1 909 c.476C>A c.(475-477)cCg>cAg p.P159Q CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CGGGCTCCGCGGGTAGGAGTG 0.706000 7 55 0.00010058 0.000104435 0.411799 1 0 HEG1 57493 broad.mit.edu 37 3 124731954 124731954 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:124731954G>A ENST00000311127.4 - 6 2536 c.2469C>T c.(2467-2469)tcC>tcT p.S823S NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 823 extracellular region|integral to membrane calcium ion binding p.S823S(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TTTGCTCTGTGGAGGACTCTG 0.478000 86 172 0 0 0.870114 0 0 KDM3B 51780 broad.mit.edu 37 5 137722285 137722285 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:137722285G>A ENST00000314358.5 + 7 1555 c.1355G>A c.(1354-1356)gGc>gAc p.G452D KDM3B_ENST00000542866.1_5'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.G108D NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 452 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.G452D(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAACAGAAAGGCAGCCGGTCG 0.527000 50 164 0 0 0.870114 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144855788 144855788 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:144855788C>A ENST00000369359.4 - 44 7211 c.7173G>T c.(7171-7173)tgG>tgT p.W2391C PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W2340C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W2149C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W2255C Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2255 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.W2255C(4) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGGCCGCTCTCCAGAACATGG 0.582000 T PDGFRB MPD 38 155 2.32173e-10 2.66106e-10 0.804634 1 0 OR2T2 401992 broad.mit.edu 37 1 248616139 248616139 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248616139T>G ENST00000342927.3 + 1 63 c.41T>G c.(40-42)gTc>gGc p.V14G NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V14S(2)|p.V14A(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) ACTAACTTCGTCCTCACAGGC 0.502000 40 197 0 0 0.870114 0 0 STARD8 9754 broad.mit.edu 37 X 67943666 67943666 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:67943666C>T ENST00000252336.6 + 12 3130 c.2758C>T c.(2758-2760)Cgc>Tgc p.R920C STARD8_ENST00000374597.3_Missense_Mutation_p.R920C|STARD8_ENST00000374599.3_Missense_Mutation_p.R1000C NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 920 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.R920C(2)|p.R1000C(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CCATCCCTGCCGCGACTTTGT 0.627000 4 29 0 0 0.150653 0 0 DMGDH 29958 broad.mit.edu 37 5 78325854 78325854 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:78325854C>A ENST00000255189.3 - 11 1715 c.1687G>T c.(1687-1689)Ggt>Tgt p.G563C DMGDH_ENST00000540686.1_Missense_Mutation_p.G183C|DMGDH_ENST00000380311.4_Missense_Mutation_p.G362C NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 563 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity p.G563C(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTTGTAAAACCCACCTACATA 0.348000 15 48 5.01169e-05 5.2403e-05 0.520397 1 0 CCDC129 223075 broad.mit.edu 37 7 31690852 31690852 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:31690852C>T ENST00000319386.3 + 12 3229 c.2236C>T c.(2236-2238)Ctc>Ttc p.L746F CCDC129_ENST00000407970.3_Missense_Mutation_p.L894F|CCDC129_ENST00000451887.2_Missense_Mutation_p.L920F|CCDC129_ENST00000409210.1_Missense_Mutation_p.L802F Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 894 p.L894F(2)|p.L746F(2) cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACAGCAGGCCCTCTTTTCCAG 0.473000 48 109 0 0 0.864702 0 0 OR2W3 343171 broad.mit.edu 37 1 248059153 248059153 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248059153G>T ENST00000537741.1 + 3 522 c.265G>T c.(265-267)Gac>Tac p.D89Y OR2W3_ENST00000360358.3_Missense_Mutation_p.D89Y Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D89Y(2) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TAATGGATGTGACAAGACCAT 0.567000 94 171 6.83469e-46 1.14424e-45 0.870114 1 0 BTK 695 broad.mit.edu 37 X 100613339 100613339 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:100613339G>A ENST00000308731.7 - 12 1224 c.1061C>T c.(1060-1062)aCc>aTc p.T354I BTK_ENST00000372880.1_Intron NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 354 SH2. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding p.T354I(2) breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTCAGGGATGGTGCTGAAAAG 0.502000 Agammaglobulinemia, X-linked 147 334 0 0 0.870114 0 0 PIDD 55367 broad.mit.edu 37 11 804256 804256 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:804256C>A ENST00000347755.5 - 2 274 c.133G>T c.(133-135)Ggg>Tgg p.G45W PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Missense_Mutation_p.G45W NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 45 apoptosis|signal transduction cytoplasm|nucleus death receptor binding TGGCAGCCCCCGGGGTACAGG 0.652000 3 49 0.115264 0.116043 0.115264 1 0 C10orf53 282966 broad.mit.edu 37 10 50916417 50916417 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:50916417C>A ENST00000374112.3 + 3 240 c.228C>A c.(226-228)acC>acA p.T76T C10orf53_ENST00000535836.1_Silent_p.T76T NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 79 p.T76T(2) endometrium(1)|lung(6) 7 all_neural(218;0.107) gcaagctcaccccaagtagtg 0.493000 48 104 6.23363e-37 9.88097e-37 0.870114 1 0 ENO3 2027 broad.mit.edu 37 17 4857038 4857038 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:4857038G>T ENST00000323997.6 + 6 474 c.342G>T c.(340-342)gtG>gtT p.V114V ENO3_ENST00000518175.1_Silent_p.V114V|ENO3_ENST00000519584.1_Silent_p.V71V NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 114 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity p.V114V(1) cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 TCCTGGGCGTGTCCTTGGCCG 0.607000 134 128 2.90618e-78 5.12451e-78 0.870114 1 0 MAGEE1 57692 broad.mit.edu 37 X 75648524 75648524 + Silent SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:75648524C>T ENST00000361470.2 + 1 479 c.201C>T c.(199-201)tcC>tcT p.S67S NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 67 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CAAGCACCTCCGTTCTGCCCA 0.682000 6 20 0 0 0.217242 0 0 OR5T2 219464 broad.mit.edu 37 11 56000141 56000141 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:56000141C>A ENST00000313264.4 - 1 596 c.521G>T c.(520-522)aGc>aTc p.S174I NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S174I(2) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GGGTGACATGCTCACTGAATA 0.433000 52 130 3.68337e-26 5.25189e-26 0.870114 1 0 NOLC1 9221 broad.mit.edu 37 10 103917833 103917833 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:103917833G>T ENST00000405356.1 + 5 704 c.469G>T c.(469-471)Gcc>Tcc p.A157S NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.A158S|NOLC1_ENST00000605788.1_Missense_Mutation_p.A157S Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 157 11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding p.A157S(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) AGCCAAGGCAGCCAAAGCTCC 0.488000 44 126 8.20599e-20 1.07726e-19 0.859065 1 0 OR10A4 283297 broad.mit.edu 37 11 6898596 6898596 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:6898596T>G ENST00000379829.2 + 1 741 c.718T>G c.(718-720)Tcc>Gcc p.S240A NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S240A(2) kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGGCATTCTCCACCTGTTC 0.507000 28 178 0 0 0.740014 0 0 GLI2 2736 broad.mit.edu 37 2 121747600 121747600 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:121747600G>T ENST00000452319.1 + 14 4170 c.4110G>T c.(4108-4110)caG>caT p.Q1370H GLI2_ENST00000361492.4_Missense_Mutation_p.Q1370H|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1370 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q1370H(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCCTAGTGCAGCCCCGGCCTC 0.701000 30 17 3.11337e-16 3.89826e-16 0.769981 1 0 OR4K15 81127 broad.mit.edu 37 14 20443793 20443793 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:20443793T>A ENST00000305051.5 + 1 191 c.116T>A c.(115-117)cTg>cAg p.L39Q NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L39Q(2) endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGTGTTGCTGGGACTGTCT 0.403000 31 98 0 0 0.779181 0 0 MYH7 4625 broad.mit.edu 37 14 23887584 23887584 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:23887584G>A ENST00000355349.3 - 30 4166 c.4004C>T c.(4003-4005)tCg>tTg p.S1335L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335L(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGCCGGGCCGACTGCAGTGC 0.657000 18 89 0 0 0.575678 0 0 SLC9A1 6548 broad.mit.edu 37 1 27428248 27428248 + Silent SNP G G T rs137936112 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:27428248G>T ENST00000263980.3 - 10 2580 c.2005C>A c.(2005-2007)Cgg>Agg p.R669R SLC9A1_ENST00000545949.1_Silent_p.R330R NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 669 regulation of pH integral to membrane sodium:hydrogen antiporter activity p.R669R(1) central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TTCTGCCTCCGGAGCAGCATC 0.637000 46 21 3.68337e-26 5.25189e-26 0.870114 1 0 PSG8 440533 broad.mit.edu 37 19 43359723 43359723 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:43359723C>A ENST00000401467.2 - 1 120 c.49G>T c.(49-51)Ggg>Tgg p.G17W PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 17 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AGCAGGACCCCCTTCCATTTG 0.572000 175 160 6.2965e-74 1.09728e-73 0.870114 1 0 EP400 57634 broad.mit.edu 37 12 132510236 132510236 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:132510236G>T ENST00000333577.4 + 26 5118 c.5009G>T c.(5008-5010)cGa>cTa p.R1670L EP400_ENST00000389561.2_Missense_Mutation_p.R1634L|EP400_ENST00000332482.4_Missense_Mutation_p.R1597L|EP400_ENST00000389562.2_Missense_Mutation_p.R1633L|EP400_ENST00000330386.6_Missense_Mutation_p.R1553L Q96L91 EP400_HUMAN E1A binding protein p400 1670 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.R1633L(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCTACCTTCGAGCCCCTGGC 0.672000 41 69 8.20599e-20 1.07726e-19 0.859065 1 0 EPB41L4B 54566 broad.mit.edu 37 9 112018498 112018498 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:112018498C>A ENST00000374566.3 - 9 1364 c.847G>T c.(847-849)Gat>Tat p.D283Y EPB41L4B_ENST00000374557.4_Missense_Mutation_p.D283Y NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 283 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton p.D283Y(4) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCACAGCCATCTCTTCCCTAC 0.398000 36 82 1.0096e-33 1.55083e-33 0.870114 1 0 SLC30A9 10463 broad.mit.edu 37 4 42003698 42003698 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:42003698G>C ENST00000264451.6 + 2 355 c.175G>C c.(175-177)Ggt>Cgt p.G59R NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 59 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity p.G59R(2) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCATATATTGGTACCCTGAG 0.353000 14 51 0 0 0.479597 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. 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.Q210Q(2) 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 agcagcaacagcagcagcagc 0.502000 11 33 0 0 0.435327 0 0 PDE2A 5138 broad.mit.edu 37 11 72308639 72308639 + Silent SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:72308639C>T ENST00000334456.5 - 5 593 c.348G>A c.(346-348)cgG>cgA p.R116R PDE2A_ENST00000540345.1_Silent_p.R107R|PDE2A_ENST00000544570.1_Silent_p.R109R|PDE2A_ENST00000444035.2_Silent_p.R107R|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540380.1_5'UTR NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 116 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TGCAGCCCAGCCGCTTCTGGG 0.627000 3 50 0 0 0.115264 0 0 PDZD2 23037 broad.mit.edu 37 5 32048735 32048735 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:32048735G>T ENST00000438447.1 + 8 1998 c.1610G>T c.(1609-1611)cGa>cTa p.R537L PDZD2_ENST00000282493.3_Missense_Mutation_p.R537L O15018 PDZD2_HUMAN PDZ domain containing 2 537 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.R537L(2) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GAGGTCTCCCGAGATGGCCGG 0.562000 45 194 5.44703e-19 7.0269e-19 0.847076 1 0 COQ7 10229 broad.mit.edu 37 16 19087069 19087069 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:19087069G>T ENST00000321998.5 + 4 460 c.394G>T c.(394-396)Gaa>Taa p.E132* COQ7_ENST00000544894.2_Nonsense_Mutation_p.E94*|COQ7_ENST00000569127.1_Nonsense_Mutation_p.E109*|COQ7_ENST00000568985.1_Nonsense_Mutation_p.E132* NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 132 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding p.E132*(2) breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 GCTCGGGAAGGAAGGTGCCAT 0.552000 34 235 3.33393e-15 4.08853e-15 0.804634 1 0 SLC19A1 6573 broad.mit.edu 37 21 46935678 46935678 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr21:46935678T>A ENST00000311124.4 - 6 1822 c.1670A>T c.(1669-1671)gAg>gTg p.E557V SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000485649.2_Missense_Mutation_p.E517V NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 557 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity p.E557V(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) ATCTGCAGCCTCAGGGCCTGA 0.622000 15 53 0 0 0.575678 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128957764 128957764 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:128957764G>A ENST00000357166.6 - 5 769 c.378C>T c.(376-378)atC>atT p.I126I ZDHHC9_ENST00000491039.1_5'UTR|ZDHHC9_ENST00000371064.3_Silent_p.I126I NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 126 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding p.I126I(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 GGAAATTCTTGATACGAGGCG 0.493000 28 453 0 0 0.769981 0 0 IRX4 50805 broad.mit.edu 37 5 1879706 1879706 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:1879706G>T ENST00000505790.1 - 5 1104 c.648C>A c.(646-648)gaC>gaA p.D216E IRX4_ENST00000513692.1_Missense_Mutation_p.D216E|IRX4_ENST00000231357.2_Missense_Mutation_p.D216E|IRX4_ENST00000505938.1_5'UTR NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 216 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D216E(1) endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) GCCGCTTCTCGTCTGCGCACT 0.672000 31 157 3.99451e-17 5.10886e-17 0.740014 1 0 CREB3L3 84699 broad.mit.edu 37 19 4168422 4168422 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:4168422G>A ENST00000078445.2 + 6 936 c.789G>A c.(787-789)aaG>aaA p.K263K CREB3L3_ENST00000602257.1_Silent_p.K261K|CREB3L3_ENST00000595923.1_Silent_p.K262K|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000252587.3_Silent_p.K203K NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 263 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K263K(1) breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGAAGAAGAAGAAGGAAT 0.537000 13 52 0 0 0.411799 0 0 IGSF10 285313 broad.mit.edu 37 3 151164070 151164070 + Silent SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:151164070C>T ENST00000282466.3 - 4 3698 c.3699G>A c.(3697-3699)gtG>gtA p.V1233V NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1233 cell differentiation|multicellular organismal development|ossification extracellular region p.V1233V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGGAAGCATCACAGCTGTGC 0.383000 88 149 0 0 0.870114 0 0 PSG8 440533 broad.mit.edu 37 19 43359724 43359724 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:43359724C>A ENST00000401467.2 - 1 119 c.48G>T c.(46-48)aaG>aaT p.K16N PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 16 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCAGGACCCCCTTCCATTTGA 0.572000 178 162 2.29391e-76 4.02109e-76 0.870114 1 0 OR5V1 81696 broad.mit.edu 37 6 29323725 29323725 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:29323725A>G ENST00000377154.1 - 4 547 c.248T>C c.(247-249)gTg>gCg p.V83A OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V83A(1) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAGGAGGTGCACCATCATCTG 0.433000 19 156 0 0 0.557998 0 0 PCLO 27445 broad.mit.edu 37 7 82764395 82764395 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:82764395G>A ENST00000423517.2 - 3 2808 c.2471C>T c.(2470-2472)cCt>cTt p.P824L PCLO_ENST00000333891.8_Missense_Mutation_p.P824L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 770 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P824L(4)|p.P770L(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTGATGCAGGTCGAGGTAT 0.438000 102 175 0 0 0.870114 0 0 OBSCN 84033 broad.mit.edu 37 1 228548231 228548231 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:228548231C>G ENST00000284548.11 + 81 19712 c.19638C>G c.(19636-19638)agC>agG p.S6546R OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.S3665R Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7567 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.S6546R(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGTCCGTAGCCTTGAGGGCA 0.701000 20 30 0 0 0.624587 0 0 MICU3 286097 broad.mit.edu 37 8 16884850 16884850 + Missense_Mutation SNP A A C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:16884850A>C ENST00000318063.5 + 1 104 c.62A>C c.(61-63)cAc>cCc p.H21P NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 CTCTGCGCTCACCAGCCCCTC 0.721000 5 18 0 0 0.500413 0 0 OR10H4 126541 broad.mit.edu 37 19 16060247 16060247 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:16060247C>G ENST00000322107.1 + 1 430 c.430C>G c.(430-432)Cat>Gat p.H144D NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 144 H -> R (in dbSNP:rs16980822). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H144D(2) breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 TGACTGTGCCCATCTTGTGGC 0.542000 37 124 0 0 0.788014 0 0 SPTA1 6708 broad.mit.edu 37 1 158622310 158622310 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:158622310C>A ENST00000368148.3 - 23 3502 c.3322G>T c.(3322-3324)Gtg>Ttg p.V1108L SPTA1_ENST00000368147.3_Missense_Mutation_p.V1108L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1108 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.V1108L(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTAGTTCCACTCCAGTGTTT 0.408000 45 117 4.0306e-16 5.0256e-16 0.870114 1 0 NEK4 6787 broad.mit.edu 37 3 52794870 52794870 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:52794870T>A ENST00000233027.5 - 6 1106 c.904A>T c.(904-906)Aat>Tat p.N302Y NEK4_ENST00000383721.4_Missense_Mutation_p.N302Y|NEK4_ENST00000535191.1_Missense_Mutation_p.N213Y NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 302 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity p.N302Y(2) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) ACTTCATGATTTGATTCTGCC 0.378000 74 125 0 0 0.870114 0 0 HS1BP3 64342 broad.mit.edu 37 2 20824527 20824527 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:20824527G>T ENST00000304031.3 - 5 774 c.749C>A c.(748-750)cCa>cAa p.P250Q NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 250 cell communication phosphatidylinositol binding p.P250Q(2) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGGTCCTGTGGAGACAGCTT 0.642000 23 198 1.1804e-14 1.43575e-14 0.667858 1 0 KIF2B 84643 broad.mit.edu 37 17 51900791 51900791 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:51900791G>T ENST00000268919.4 + 1 553 c.397G>T c.(397-399)Gtg>Ttg p.V133L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 133 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.V133L(2)|p.V133M(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAGCCTGGATGTGAGGGTCCC 0.582000 71 178 3.58576e-35 5.53656e-35 0.870114 1 0 NBPF14 25832 broad.mit.edu 37 1 148016411 148016411 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:148016411G>A ENST00000369219.1 - 7 847 c.831C>T c.(829-831)ccC>ccT p.P277P Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 277 NBPF 3. cytoplasm p.P277P(2)|p.P283L(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGACTCACCTGGGACCTGTTG 0.438000 146 106 0 0 0.870114 0 0 COL4A1 1282 broad.mit.edu 37 13 110862504 110862504 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr13:110862504C>G ENST00000375820.4 - 9 645 c.524G>C c.(523-525)aGa>aCa p.R175T COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 175 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.R175T(2)|p.R166T(2) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGAAATCCTCTTTCACCTTT 0.453000 36 43 0 0 0.812448 0 0 TLL2 7093 broad.mit.edu 37 10 98146807 98146807 + Missense_Mutation SNP G G T rs144026118 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:98146807G>T ENST00000357947.3 - 14 1980 c.1755C>A c.(1753-1755)caC>caA p.H585Q NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 585 EGF-like 1; calcium-binding (Potential). EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.H585Q(2) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGCACCCGCCGTGATCTGGCC 0.582000 84 100 2.18481e-45 3.61707e-45 0.870114 1 0 CSMD3 114788 broad.mit.edu 37 8 114186033 114186033 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:114186033G>A ENST00000297405.5 - 4 871 c.627C>T c.(625-627)atC>atT p.I209I CSMD3_ENST00000343508.3_Silent_p.I169I|CSMD3_ENST00000455883.2_Silent_p.I209I|CSMD3_ENST00000352409.3_Silent_p.I209I|CSMD3_ENST00000519485.1_5'UTR NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 209 Sushi 1. integral to membrane|plasma membrane p.I209I(2)|p.I169I(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 GGCCATCAAGGATGTATCCAG 0.458000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 139 0 0 0.693898 0 0 CELF2 10659 broad.mit.edu 37 10 11047364 11047364 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:11047364A>G ENST00000379261.4 + 1 106 c.14A>G c.(13-15)aAa>aGa p.K5R CELF2_ENST00000416382.2_Missense_Mutation_p.K5R NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 5 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding p.K5R(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CGCTGTCCCAAATCCGCTGTT 0.438000 30 226 0 0 0.760397 0 0 TEKT1 83659 broad.mit.edu 37 17 6704148 6704148 + Missense_Mutation SNP G G C rs150562113 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:6704148G>C ENST00000338694.2 - 7 1096 c.967C>G c.(967-969)Cgg>Ggg p.R323G TEKT1_ENST00000535086.1_Missense_Mutation_p.R177G NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 323 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.H322_R323>QG(1)|p.R323G(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) ACGTTCGGCCGGTGTGTCCTG 0.527000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 117 186 0 0 0.870114 0 0 SMG1 23049 broad.mit.edu 37 16 18823123 18823123 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:18823123C>A ENST00000446231.2 - 62 11280 c.10868G>T c.(10867-10869)cGa>cTa p.R3623L SMG1_ENST00000389467.3_Missense_Mutation_p.R3624L|RP11-1035H13.2_ENST00000569096.1_RNA Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3623 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.R3619L(2)|p.R3623L(2) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ATCAACATCTCGGCCCTCTAA 0.443000 191 414 2.6021e-81 4.61562e-81 0.870114 1 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 77 214 0 0 0.870114 0 0 FADS6 283985 broad.mit.edu 37 17 72877234 72877234 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:72877234C>A ENST00000310226.6 - 4 704 c.690G>T c.(688-690)ctG>ctT p.L230L NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 236 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GGTGGGCCAACAGGGATCTGG 0.597000 12 47 1.5842e-08 1.76154e-08 0.435327 1 0 OR51G1 79324 broad.mit.edu 37 11 4944698 4944698 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:4944698G>T ENST00000321961.2 - 1 939 c.872C>A c.(871-873)cCc>cAc p.P291H MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P291H(1) NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GTAGATGATGGGGTTCATAAG 0.438000 47 117 1.06522e-23 1.47644e-23 0.864702 1 0 AHRR 57491 broad.mit.edu 37 5 353963 353963 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:353963C>G ENST00000316418.5 + 3 237 c.193C>G c.(193-195)Ctg>Gtg p.L65V AHRR_ENST00000505113.1_Missense_Mutation_p.L65V|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.L61V NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 65 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.L61V(2) breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CATCTCCAAGCTGGACAAGCT 0.592000 77 211 0 0 0.870114 0 0 ARL5B 221079 broad.mit.edu 37 10 18948604 18948604 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:18948604G>T ENST00000377275.3 + 1 271 c.38G>T c.(37-39)tGt>tTt p.C13F NM_178815.3 NP_848930.1 Q96KC2 ARL5B_HUMAN ADP-ribosylation factor-like 5B 13 small GTPase mediated signal transduction intracellular GTP binding p.C13F(1) lung(1)|ovary(1) 2 AGCCTCTTCTGTAACCAAGGT 0.692000 8 23 2.80697e-09 3.14466e-09 0.387290 1 0 ZNF479 90827 broad.mit.edu 37 7 57188147 57188147 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:57188147G>C ENST00000331162.4 - 5 1245 c.975C>G c.(973-975)tgC>tgG p.C325W NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C325W(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CCTCACACCTGCAGGGTTTCT 0.453000 14 33 0 0 0.500413 0 0 MUC17 140453 broad.mit.edu 37 7 100682066 100682066 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:100682066C>A ENST00000306151.4 + 3 7433 c.7369C>A c.(7369-7371)Ccg>Acg p.P2457T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2457 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2457T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGGAACCACTCCGTTAGCAAG 0.537000 119 514 6.00419e-47 1.01088e-46 0.870114 1 0 CDC42EP1 11135 broad.mit.edu 37 22 37964344 37964344 + Silent SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:37964344C>T ENST00000249014.4 + 3 1113 c.693C>T c.(691-693)ccC>ccT p.P231P NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 231 8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG]. positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding p.P231P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) CTGCAAACCCCCCAGCCCCTA 0.662000 13 24 0 0 0.750413 0 0 COG5 10466 broad.mit.edu 37 7 106898754 106898754 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:106898754C>A ENST00000393603.2 - 15 2014 c.1743G>T c.(1741-1743)gtG>gtT p.V581V COG5_ENST00000347053.3_Silent_p.V581V|COG5_ENST00000297135.3_Silent_p.V581V NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 581 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding p.V581V(1) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 ACAATGAATTCACTACTGCCA 0.338000 27 55 2.65835e-16 3.34256e-16 0.717897 1 0 CHD5 26038 broad.mit.edu 37 1 6208958 6208958 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:6208958G>A ENST00000262450.3 - 9 1438 c.1339C>T c.(1339-1341)Ctg>Ttg p.L447L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 447 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.L447L(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ATCTCGGGCAGCGGCGGGTTG 0.701000 78 40 0 0 0.870114 0 0 RIOK2 55781 broad.mit.edu 37 5 96506952 96506952 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:96506952T>A ENST00000283109.3 - 6 805 c.737A>T c.(736-738)gAt>gTt p.D246V RIOK2_ENST00000508447.1_Missense_Mutation_p.D246V|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 246 ATP binding|protein serine/threonine kinase activity p.D246V(4) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CTGTGGAAAATCAATCATGGT 0.318000 17 55 0 0 0.681144 0 0 ALMS1P 200420 broad.mit.edu 37 2 73901983 73901983 + RNA SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:73901983C>G ENST00000450720.1 + 0 936 NR_003683.2 p.Q152E(2) CCTGGCTGTCCAGAAGAACAA 0.478000 27 35 0 0 0.729181 0 0 OBSCN 84033 broad.mit.edu 37 1 228492264 228492264 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:228492264A>G ENST00000570156.2 + 53 14337 c.14263A>G c.(14263-14265)Agg>Ggg p.R4755G OBSCN_ENST00000366707.4_Missense_Mutation_p.R1445G|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3798 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R4380G(2)|p.R4510G(2) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACTCACGATCAGGGGTAAAGA 0.557000 34 96 0 0 0.804634 0 0 PBRM1 55193 broad.mit.edu 37 3 52584605 52584605 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:52584605C>A ENST00000356770.4 - 27 4470 c.4468G>T c.(4468-4470)Ggc>Tgc p.G1490C PBRM1_ENST00000337303.4_Missense_Mutation_p.G1470C|PBRM1_ENST00000410007.1_Missense_Mutation_p.G1497C|PBRM1_ENST00000409114.3_Missense_Mutation_p.G1540C|PBRM1_ENST00000394830.3_Missense_Mutation_p.G1470C|PBRM1_ENST00000409057.1_Missense_Mutation_p.G1522C|PBRM1_ENST00000409767.1_Missense_Mutation_p.G1485C|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Missense_Mutation_p.G1577C Q86U86 PB1_HUMAN polybromo 1 1577 Pro-rich. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.G1577C(1)|p.G1490C(1)|p.G1470C(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGATGTGGGCCGGGATATGGA 0.572000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 27 98 3.65163e-15 4.45978e-15 0.706142 1 0 SDHAP1 255812 broad.mit.edu 37 3 195711454 195711454 + RNA SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:195711454C>A ENST00000427841.1 - 0 493 NR_003264.2 CCAGAGCCTCCCGCCCATCAC 0.572000 8 92 1.02788e-11 1.19187e-11 0.520397 1 0 OR51V1 283111 broad.mit.edu 37 11 5221796 5221796 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:5221796G>T ENST00000321255.1 - 1 134 c.135C>A c.(133-135)gcC>gcA p.A45A NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A45A(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGCACCATGGCATAGATTG 0.512000 40 128 1.59932e-28 2.33627e-28 0.834066 1 0 PDE1C 5137 broad.mit.edu 37 7 31864558 31864558 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:31864558C>A ENST00000396184.3 - 14 1533 c.1329G>T c.(1327-1329)acG>acT p.T443T PDE1C_ENST00000396193.1_Silent_p.T503T|PDE1C_ENST00000321453.7_Silent_p.T443T|PDE1C_ENST00000396191.1_Silent_p.T443T|PDE1C_ENST00000396182.2_Silent_p.T443T NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 443 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.T443T(2)|p.D444Y(2)|p.T503T(1)|p.D504Y(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CGGTCATGTCCGTAAGCACAG 0.483000 58 164 2.75338e-15 3.39052e-15 0.870114 1 0 MUC16 94025 broad.mit.edu 37 19 9071071 9071071 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:9071071G>T ENST00000397910.4 - 3 16578 c.16375C>A c.(16375-16377)Ctg>Atg p.L5459M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5461 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L5459M(4)|p.L1092M(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 GTGTCCCCCAGGGTGGAGGTG 0.498000 61 221 1.44317e-28 2.11854e-28 0.870114 1 0 MED24 9862 broad.mit.edu 37 17 38192396 38192396 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:38192396G>A ENST00000394126.1 - 3 718 c.300C>T c.(298-300)taC>taT p.Y100Y MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394128.2_Silent_p.Y75Y|MED24_ENST00000356271.3_Intron|MED24_ENST00000394127.2_Intron|MED24_ENST00000501516.3_Silent_p.Y75Y O75448 MED24_HUMAN mediator complex subunit 24 75 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.Y75Y(2) autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GGACAGAAGAGTAGGACACCA 0.498000 39 102 0 0 0.834066 0 0 OGDHL 55753 broad.mit.edu 37 10 50946023 50946023 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:50946023G>A ENST00000374103.4 - 19 2572 c.2487C>T c.(2485-2487)cgC>cgT p.R829R OGDHL_ENST00000432695.1_Silent_p.R620R|OGDHL_ENST00000419399.1_Silent_p.R772R|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 829 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R829R(2) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGATCTGCCGGCGCAGCACGT 0.652000 65 288 0 0 0.870114 0 0 KMT2C 58508 broad.mit.edu 37 7 151962197 151962197 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:151962197G>T ENST00000355193.2 - 8 1328 c.1110C>A c.(1108-1110)tgC>tgA p.C370* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C370* lysine (K)-specific methyltransferase 2C p.C370*(2) CTATATCCAGGCACATTCCAT 0.453000 107 418 4.55725e-88 8.18109e-88 0.870114 1 0 CXorf40B 541578 broad.mit.edu 37 X 149101918 149101918 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:149101918C>A ENST00000370406.3 - 4 1003 c.175G>T c.(175-177)Gag>Tag p.E59* CXorf40B_ENST00000462691.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000370404.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000355203.2_Nonsense_Mutation_p.E59* Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 59 p.E59*(2) endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCGAGTCTCTCCACCAGCAGC 0.577000 82 314 1.31735e-33 2.00291e-33 0.870114 1 0 OPN5 221391 broad.mit.edu 37 6 47775990 47775990 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:47775990A>T ENST00000489301.2 + 5 942 c.857A>T c.(856-858)cAg>cTg p.Q286L OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.Q286L|OPN5_ENST00000393699.2_Missense_Mutation_p.Q286L Q6U736 OPN5_HUMAN opsin 5 286 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.Q286L(2) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 ATTCCCATACAGCTCTCTGTG 0.458000 65 192 0 0 0.870114 0 0 HERC2 8924 broad.mit.edu 37 15 28424343 28424343 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:28424343T>C ENST00000261609.7 - 58 9072 c.8964A>G c.(8962-8964)acA>acG p.T2988T NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2988 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T2988T(2) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCTGACAGTGTCTCAGAGA 0.294000 64 100 0 0 0.870114 0 0 NLRP13 126204 broad.mit.edu 37 19 56443508 56443508 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:56443508C>A ENST00000588751.1 - 1 194 c.170G>T c.(169-171)tGg>tTg p.W57L NLRP13_ENST00000342929.3_Missense_Mutation_p.W57L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 57 DAPIN. ATP binding p.W57L(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAGTTTGCCCAGGGGATACG 0.547000 121 91 4.03838e-40 6.54042e-40 0.870114 1 0 ALS2 57679 broad.mit.edu 37 2 202609145 202609145 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:202609145T>C ENST00000264276.6 - 10 2378 c.2006A>G c.(2005-2007)tAt>tGt p.Y669C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 669 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity p.Y669C(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TCTGCTTATATATCCAAGCTG 0.353000 48 30 0 0 0.870114 0 0 DBX1 120237 broad.mit.edu 37 11 20177828 20177828 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:20177828G>T ENST00000524983.2 - 4 1252 c.964C>A c.(964-966)Cct>Act p.P322T DBX1_ENST00000227256.3_Missense_Mutation_p.P361T A6NMT0 DBX1_HUMAN developing brain homeobox 1 322 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P361T(2) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 AAGTCCGAAGGTTTCCCGGGA 0.652000 102 227 2.78421e-50 4.71418e-50 0.870114 1 0 GOLIM4 27333 broad.mit.edu 37 3 167728078 167728078 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:167728078T>C ENST00000470487.1 - 16 2759 c.2070A>G c.(2068-2070)tcA>tcG p.S690S GOLIM4_ENST00000309027.4_Silent_p.S662S NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 690 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus p.S690S(2) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTCGATGTGATTTCTCAG 0.493000 38 147 0 0 0.834066 0 0 AVPR2 554 broad.mit.edu 37 X 153171455 153171455 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:153171455C>A ENST00000358927.2 + 3 704 c.495C>A c.(493-495)gcC>gcA p.A165A AVPR2_ENST00000337474.5_Silent_p.A165A|AVPR2_ENST00000370049.1_Silent_p.A165A P30518 V2R_HUMAN arginine vasopressin receptor 2 165 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity p.A165A(2)|p.L168fs*41(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TGGCTTGGGCCTTCTCGCTCC 0.662000 40 88 9.8876e-21 1.3213e-20 0.804634 1 0 GALNTL5 168391 broad.mit.edu 37 7 151664369 151664369 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:151664369C>A ENST00000392800.2 + 2 292 c.38C>A c.(37-39)tCc>tAc p.S13Y GALNTL5_ENST00000431418.2_Missense_Mutation_p.S13Y NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 13 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.S13Y(2) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTCTATGGGTCCTTGACATTT 0.383000 14 62 9.05144e-12 1.06194e-11 0.435327 1 0 ASPM 259266 broad.mit.edu 37 1 197104226 197104226 + Splice_Site SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:197104226C>A ENST00000367409.4 - 5 2429 c.2173_splice c.e5+1 p.V725_splice ASPM_ENST00000294732.7_Splice_Site_p.V725_splice|ASPM_ENST00000367408.1_5'UTR NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 725 mitosis cytoplasm|nucleus calmodulin binding p.V725L(2) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TAACGTTTACCTTCAGAAATA 0.269000 4 17 0.00909568 0.0092509 0.150653 1 0 SLIT3 6586 broad.mit.edu 37 5 168098448 168098448 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:168098448G>T ENST00000519560.1 - 34 4301 c.3882C>A c.(3880-3882)ggC>ggA p.G1294G SLIT3_ENST00000332966.8_Silent_p.G1301G|SLIT3_ENST00000404867.3_Silent_p.G1294G NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1294 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.G1294G(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCGGTCCGTGCCCTGGCGCA 0.672000 20 9 1.64293e-13 1.97417e-13 0.654019 1 0 ASPA 443 broad.mit.edu 37 17 3385072 3385072 + Nonsense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:3385072C>T ENST00000263080.2 + 2 570 c.412C>T c.(412-414)Cag>Tag p.Q138* SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Nonsense_Mutation_p.Q138* NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 138 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding p.Q138*(2) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) CTTTTTAATTCAGATGTTTCA 0.318000 10 16 0 0 0.387290 0 0 QPRT 23475 broad.mit.edu 37 16 29708623 29708623 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:29708623C>A ENST00000395384.4 + 4 946 c.785C>A c.(784-786)cCg>cAg p.P262Q QPRT_ENST00000562473.1_Missense_Mutation_p.P114Q|QPRT_ENST00000219771.7_3'UTR NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 262 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity p.P262Q(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) TTCTGCGGGCCGCACATAGAC 0.632000 82 84 6.04451e-25 8.49653e-25 0.870114 1 0 LAX1 54900 broad.mit.edu 37 1 203743633 203743633 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:203743633G>T ENST00000442561.2 + 5 1411 c.1021G>T c.(1021-1023)Gct>Tct p.A341S LAX1_ENST00000367217.5_Missense_Mutation_p.A325S|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 341 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding p.A341S(2) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GACATTCCTTGCTTCAGGGGA 0.468000 57 128 1.03172e-35 1.61818e-35 0.870114 1 0 GRIN3A 116443 broad.mit.edu 37 9 104335780 104335780 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:104335780G>T ENST00000361820.3 - 9 3624 c.3024C>A c.(3022-3024)ccC>ccA p.P1008P NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 1008 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.P1008P(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) TAAGCTGACGGGGTCCCACAT 0.448000 67 84 1.20869e-33 1.84713e-33 0.870114 1 0 SLC7A11 23657 broad.mit.edu 37 4 139100436 139100436 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:139100436C>A ENST00000280612.5 - 11 1658 c.1379G>T c.(1378-1380)gGa>gTa p.G460V NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 460 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding p.G460V(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) CGCAGGGACTCCAGTCAGAGT 0.423000 37 69 1.60099e-16 2.02158e-16 0.804634 1 0 DDX49 54555 broad.mit.edu 37 19 19033422 19033422 + Silent SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:19033422C>T ENST00000438170.2 + 7 736 c.324C>T c.(322-324)acC>acT p.T108T DDX49_ENST00000247003.4_Silent_p.T215T|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000599156.1_Intron Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 215 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding p.T215T(2) breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 18 Epithelial(12;0.0289) GGGTGAGCACCGTGGAGCAGC 0.637000 22 75 0 0 0.639603 0 0 ANKS1B 56899 broad.mit.edu 37 12 99837534 99837534 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:99837534T>G ENST00000547776.2 - 11 1491 c.1492A>C c.(1492-1494)Agc>Cgc p.S498R ANKS1B_ENST00000547010.1_Missense_Mutation_p.S78R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S498R NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 498 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane p.S498R(2) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCTGTTGAGCTGTTTCTATGG 0.438000 22 38 0 0 0.654019 0 0 PKD1L2 114780 broad.mit.edu 37 16 81187704 81187704 + RNA SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:81187704G>C ENST00000525539.1 - 0 4267 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.P1423R(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAGGTGGTGGGGCTCTCTCTC 0.602000 9 16 0 0 0.307466 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227218999 227218999 + Splice_Site SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:227218999C>G ENST00000366769.3 - 27 4961 c.3670_splice c.e27+1 p.D1224_splice CDC42BPA_ENST00000366765.3_Splice_Site_p.D1237_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.D1204_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.D1143_splice|CDC42BPA_ENST00000366764.2_Splice_Site_p.D1196_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.D1259_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.D1224_splice NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1237 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.D1224H(2)|p.D1143H(2)|p.D1259H(2) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AAATTCATACCTATGATTGCG 0.388000 16 72 0 0 0.624587 0 0 MAST1 22983 broad.mit.edu 37 19 12951309 12951309 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:12951309A>T ENST00000251472.4 + 2 172 c.133A>T c.(133-135)Acg>Tcg p.T45S MAST1_ENST00000591495.1_Missense_Mutation_p.T41S NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 45 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.T45S(2) NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CACTTCACCCACGCTACCGAG 0.662000 14 31 0 0 0.479597 0 0 MARCO 8685 broad.mit.edu 37 2 119727780 119727780 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:119727780T>A ENST00000541757.1 + 4 436 c.56T>A c.(55-57)cTg>cAg p.L19Q MARCO_ENST00000327097.4_Missense_Mutation_p.L97Q Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 97 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.L97Q(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TTCTCCTTGCTGCAGTCAGCA 0.617000 133 74 0 0 0.870114 0 0 RPGR 6103 broad.mit.edu 37 X 38145111 38145111 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:38145111T>C ENST00000378505.2 - 15 3317 c.3141A>G c.(3139-3141)gaA>gaG p.E1047E RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 836 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding p.E1047E(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 ccccctccttttccctttctt 0.537000 18 29 0 0 0.520397 0 0 TLR7 51284 broad.mit.edu 37 X 12905653 12905653 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:12905653A>T ENST00000380659.3 + 3 2165 c.2026A>T c.(2026-2028)Aat>Tat p.N676Y NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 676 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity p.N676Y(1) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TATGCCTCCAAATCTAAAGAA 0.373000 6 306 0 0 0.278610 0 0 AKAP9 10142 broad.mit.edu 37 7 91667886 91667886 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:91667886A>G ENST00000359028.2 + 18 4753 c.4528A>G c.(4528-4530)Att>Gtt p.I1510V AKAP9_ENST00000356239.3_Missense_Mutation_p.I1498V|AKAP9_ENST00000358100.2_Missense_Mutation_p.I1510V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1510 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.I1510V(2)|p.I1498V(2) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAGGATCAAATTGGTTTTCA 0.323000 T BRAF papillary thyroid 29 34 0 0 0.706142 0 0 NR0B1 190 broad.mit.edu 37 X 30327006 30327006 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:30327006C>A ENST00000378970.4 - 1 709 c.475G>T c.(475-477)Gct>Tct p.A159S NR0B1_ENST00000453287.1_Missense_Mutation_p.A159S NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 159 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding p.A159S(2) central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) GCTGCCGGAGCCACGTGCGTT 0.677000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 43 1.96292e-10 2.2585e-10 0.592651 1 0 FAM71A 149647 broad.mit.edu 37 1 212799160 212799160 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:212799160G>T ENST00000294829.3 + 1 1372 c.941G>T c.(940-942)gGg>gTg p.G314V RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 314 Ala-rich. p.G314V(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GCCATAGCTGGGGCGGCCACC 0.642000 11 62 5.61819e-17 7.12434e-17 0.693898 1 0 OR14A16 284532 broad.mit.edu 37 1 247978341 247978341 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:247978341C>T ENST00000357627.1 - 1 690 c.691G>A c.(691-693)Ggc>Agc p.G231S NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G231S(2) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TTTGACTGGCCTTCTGTGGAA 0.413000 18 48 0 0 0.539581 0 0 POLE 5426 broad.mit.edu 37 12 133256576 133256576 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:133256576T>C ENST00000320574.5 - 5 430 c.387A>G c.(385-387)gcA>gcG p.A129A POLE_ENST00000535270.1_Silent_p.A102A NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 129 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.A129A(4) 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) TCTCCACTTTTGCAATTTTGC 0.448000 DNA polymerases (catalytic subunits) 46 92 0 0 0.870114 0 0 OR2T2 401992 broad.mit.edu 37 1 248616138 248616138 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:248616138G>A ENST00000342927.3 + 1 62 c.40G>A c.(40-42)Gtc>Atc p.V14I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V14S(2) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CACTAACTTCGTCCTCACAGG 0.507000 39 199 0 0 0.870114 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357646 118357646 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:118357646C>T ENST00000528052.1 + 8 853 c.782C>T c.(781-783)tCt>tTt p.S261F PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S261F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S261F P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 261 lipid metabolic process calcium ion binding|triglyceride lipase activity p.S261F(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AATGCCCTGTCTCAGATCGTG 0.527000 26 41 0 0 0.654019 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239890 135239890 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:135239890G>A ENST00000265605.2 - 7 1195 c.1127C>T c.(1126-1128)aCg>aTg p.T376M ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T322M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T326M NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 376 retinal metabolic process cytoplasm retinal dehydrogenase activity p.T376M(4) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TGTTATCACCGTGGGAAGCAT 0.502000 46 225 0 0 0.864702 0 0 OR4C6 219432 broad.mit.edu 37 11 55433035 55433035 + Silent SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:55433035G>C ENST00000314259.3 + 1 422 c.393G>C c.(391-393)acG>acC p.T131T NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T131T(2) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGCACTACACGATCATCATGA 0.512000 36 119 0 0 0.804634 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51279140 51279140 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:51279140G>A ENST00000551456.1 + 4 809 c.764G>A c.(763-765)gGt>gAt p.G255D TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G255D Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 255 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity p.G255D(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 TTTTGTGCAGGTGATGAAGAT 0.363000 59 179 0 0 0.870114 0 0 OR56A1 120796 broad.mit.edu 37 11 6048560 6048560 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:6048560C>A ENST00000316650.5 - 1 411 c.375G>T c.(373-375)atG>atT p.M125I NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M125I(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTCATAGGCCATGACCATAA 0.502000 41 94 9.73076e-26 1.3743e-25 0.827153 1 0 GHRHR 2692 broad.mit.edu 37 7 31013682 31013682 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:31013682T>A ENST00000409904.3 + 4 746 c.488T>A c.(487-489)cTg>cAg p.L163Q GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Missense_Mutation_p.L227Q|GHRHR_ENST00000461424.1_3'UTR Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 227 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding p.L227Q(2) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GCCGTCTACCTGAACTGCCTC 0.632000 83 230 0 0 0.870114 0 0 FLT3LG 2323 broad.mit.edu 37 19 49983708 49983708 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:49983708G>A ENST00000595510.1 + 6 690 c.389G>A c.(388-390)cGg>cAg p.R130Q FLT3LG_ENST00000594009.1_Missense_Mutation_p.R212Q|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R130Q|FLT3LG_ENST00000597551.1_Missense_Mutation_p.R212Q|FLT3LG_ENST00000600429.1_Missense_Mutation_p.R212Q|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R194Q|CTD-3148I10.9_ENST00000599536.1_Intron P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 212 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity p.R212Q(1) large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) AGGACGCGGCGGAGGACACCC 0.721000 4 10 0 0 0.150653 0 0 GPR64 10149 broad.mit.edu 37 X 19028759 19028759 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:19028759G>T ENST00000354791.3 - 16 1430 c.1189C>A c.(1189-1191)Cct>Act p.P397T GPR64_ENST00000357991.3_Missense_Mutation_p.P410T|GPR64_ENST00000356606.4_Missense_Mutation_p.P399T|GPR64_ENST00000379873.2_Missense_Mutation_p.P413T|GPR64_ENST00000379878.3_Missense_Mutation_p.P397T|GPR64_ENST00000357544.3_Missense_Mutation_p.P383T|GPR64_ENST00000340581.3_Missense_Mutation_p.P383T|GPR64_ENST00000360279.4_Missense_Mutation_p.P391T|GPR64_ENST00000379869.3_Missense_Mutation_p.P413T|GPR64_ENST00000379876.1_Missense_Mutation_p.P389T Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 413 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity p.P410T(1) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AGCATGTCAGGCGGGGAATGA 0.527000 136 293 6.5159e-73 1.12892e-72 0.870114 1 0 NKX6-1 4825 broad.mit.edu 37 4 85414499 85414499 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:85414499G>C ENST00000295886.4 - 3 1268 c.1047C>G c.(1045-1047)agC>agG p.S349R NKX6-1_ENST00000515820.2_Missense_Mutation_p.S75R NM_006168.2 NP_006159.2 P78426 NKX61_HUMAN NK6 homeobox 1 349 Involved in DNA-binding (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus p.S349R(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 15 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) CGCCGCCGCTGCTGGACTTGT 0.652000 28 84 0 0 0.779181 0 0 OLFML2B 25903 broad.mit.edu 37 1 161976113 161976113 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:161976113C>A ENST00000294794.3 - 4 1120 c.697G>T c.(697-699)Gca>Tca p.A233S OLFML2B_ENST00000367940.2_Missense_Mutation_p.A233S NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 233 Poly-Ala. p.A233S(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTGCTGCTGCATCCCTCTGC 0.527000 88 220 2.5264e-35 3.92119e-35 0.870114 1 0 LINC00842 643650 broad.mit.edu 37 10 47133423 47133423 + RNA SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:47133423T>A ENST00000422732.2 - 0 435 NR_033957.1 TAGGCCTCCATTGCCACAGGG 0.453000 41 248 0 0 0.870114 0 0 MAST1 22983 broad.mit.edu 37 19 12976793 12976793 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:12976793G>T ENST00000251472.4 + 17 1945 c.e17-1 NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.?(2) NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TTCCGTCCCAGGCGGCGCTTT 0.652000 13 54 3.27435e-08 3.60058e-08 0.457914 1 0 TPTE2P6 374491 broad.mit.edu 37 13 25144805 25144805 + RNA SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr13:25144805C>A ENST00000453498.1 + 0 346 GGGTCCTGGTCCTGCCATGGG 0.463000 13 61 2.31682e-05 2.43962e-05 0.479597 1 0 KAT2B 8850 broad.mit.edu 37 3 20167606 20167606 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:20167606G>T ENST00000263754.4 + 10 2077 c.e10+1 NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding p.?(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TCTTTGACCCGTAAGTGGTAC 0.448000 8 21 5.18039e-06 5.51342e-06 0.278610 1 0 GPR142 350383 broad.mit.edu 37 17 72368476 72368476 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:72368476G>C ENST00000335666.4 + 4 1174 c.1126G>C c.(1126-1128)Gtc>Ctc p.V376L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 376 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.V376L(2)|p.V376I(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCGGGTCTTCGTCATGCTCTA 0.662000 110 228 0 0 0.870114 0 0 XPO5 57510 broad.mit.edu 37 6 43516038 43516038 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:43516038C>A ENST00000265351.7 - 18 2230 c.2020G>T c.(2020-2022)Gca>Tca p.A674S NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 674 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GCCACTGGTGCCATCAGCTCC 0.483000 19 298 5.35267e-07 5.73775e-07 0.557998 1 0 PMPCB 9512 broad.mit.edu 37 7 102937953 102937953 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:102937953G>T ENST00000249269.4 + 1 85 c.47G>T c.(46-48)cGg>cTg p.R16L PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R16L NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 16 RR -> GG (in Ref. 1; AAC39915). proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding p.R16L(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCGGCGCGGCGGCGGCTCTGG 0.652000 OREG0018240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 46 1.75199e-13 2.09675e-13 0.717897 1 0 PPIP5K2 23262 broad.mit.edu 37 5 102508881 102508881 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:102508881A>G ENST00000321521.9 + 20 2882 c.2309A>G c.(2308-2310)gAa>gGa p.E770G PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E770G|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E770G O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 770 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.E770G(2) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACTAAAGCTGAAAAACTGGAG 0.338000 13 8 0 0 0.435327 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686420 108686420 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:108686420A>G ENST00000397688.2 - 3 683 c.314T>C c.(313-315)tTc>tCc p.F105S CMKLR1_ENST00000412676.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.F105S|CMKLR1_ENST00000312143.7_Missense_Mutation_p.F107S NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 107 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.F105S(2) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GGCTGTCCCGAAAACCCAGTG 0.517000 50 123 0 0 0.870114 0 0 CDH12 1010 broad.mit.edu 37 5 21842294 21842294 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:21842294C>A ENST00000382254.1 - 8 1876 c.790G>T c.(790-792)Gac>Tac p.D264Y CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D264Y|CDH12_ENST00000522262.1_Missense_Mutation_p.D224Y NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 264 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D264Y(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GGTGGATTGTCATTGACATCG 0.403000 HNSCC(59;0.17) 39 147 1.47244e-24 2.06004e-24 0.819951 1 0 PDGFRA 5156 broad.mit.edu 37 4 55129867 55129867 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:55129867C>T ENST00000257290.5 + 4 732 c.401C>T c.(400-402)aCg>aTg p.T134M PDGFRA_ENST00000508170.1_Missense_Mutation_p.T134M|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 134 Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.T134M(2) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTAGGAATGACGGATTATTTA 0.408000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 47 102 0 0 0.870114 0 0 OR5H14 403273 broad.mit.edu 37 3 97868644 97868644 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:97868644G>T ENST00000437310.1 + 1 475 c.415G>T c.(415-417)Gga>Tga p.G139* NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G139*(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TATGACCAATGGACTGTGCAT 0.393000 65 103 1.21457e-23 1.67566e-23 0.870114 1 0 RYR2 6262 broad.mit.edu 37 1 237947310 237947310 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:237947310G>A ENST00000366574.2 + 90 12615 c.12298G>A c.(12298-12300)Gtc>Atc p.V4100I RYR2_ENST00000542537.1_Missense_Mutation_p.V4084I|RYR2_ENST00000360064.6_Missense_Mutation_p.V4106I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4100 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.V4098I(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) CAACGTCGCCGTCCTTCTGAC 0.502000 5 52 0 0 0.184627 0 0 KRT32 3882 broad.mit.edu 37 17 39620561 39620561 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:39620561C>A ENST00000225899.3 - 4 946 c.843G>T c.(841-843)agG>agT p.R281S NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 281 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity p.R281S(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CCTCCACGTCCCTGCGGTTGG 0.617000 55 119 9.53978e-28 1.38676e-27 0.870114 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140719811 140719811 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:140719811A>G ENST00000394576.2 + 1 1273 c.1273A>G c.(1273-1275)Aaa>Gaa p.K425E PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.K425E(4) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAACCGCTAAAGATGGAGG 0.488000 52 128 0 0 0.870114 0 0 NUTM1 256646 broad.mit.edu 37 15 34648810 34648810 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:34648810T>C ENST00000537011.1 + 8 2983 c.2601T>C c.(2599-2601)ggT>ggC p.G867G NUTM1_ENST00000438749.3_Silent_p.G857G|NUTM1_ENST00000333756.4_Silent_p.G839G NUT midline carcinoma, family member 1 p.G839G(2) GGGCAGAAGGTTGCTTCCCAT 0.522000 15 103 0 0 0.500413 0 0 NEU3 10825 broad.mit.edu 37 11 74716538 74716538 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:74716538G>A ENST00000532963.1 + 2 302 c.175G>A c.(175-177)Gag>Aag p.E59K NEU3_ENST00000531509.1_Silent_p.K129K|NEU3_ENST00000294064.4_Silent_p.K129K|NEU3_ENST00000529024.1_Missense_Mutation_p.E59K|NEU3_ENST00000545272.1_Silent_p.K20K|NEU3_ENST00000544263.1_Silent_p.K96K A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 0 p.K129K(4) kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GGGAGCAGAAGAGTGGTTGTG 0.562000 31 55 0 0 0.740014 0 0 FAT3 120114 broad.mit.edu 37 11 92531939 92531939 + Nonsense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:92531939C>G ENST00000298047.6 + 9 5777 c.5760C>G c.(5758-5760)taC>taG p.Y1920* FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1770*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1920* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1920 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Y1920*(4) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AACTGACATACAGCCTAATGG 0.418000 TCGA Ovarian(4;0.039) 23 50 0 0 0.608945 0 0 ABCA5 23461 broad.mit.edu 37 17 67300882 67300882 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:67300882T>C ENST00000392676.3 - 7 922 c.858A>G c.(856-858)acA>acG p.T286T ABCA5_ENST00000588877.1_Silent_p.T286T|ABCA5_ENST00000392677.2_Silent_p.T286T Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 286 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity p.T286T(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) ACAAAGAAGCTGTCGCAATGA 0.323000 18 45 0 0 0.575678 0 0 RHEBL1 121268 broad.mit.edu 37 12 49463563 49463563 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:49463563C>A ENST00000301068.6 - 1 245 c.6G>T c.(4-6)ccG>ccT p.P2P NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 2 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding p.P2P(2) breast(2)|large_intestine(2)|lung(5) 9 AGCGGACTAGCGGCATGGCAG 0.647000 23 42 4.4004e-07 4.75116e-07 0.654019 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254445 30254445 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:30254445C>A ENST00000361644.2 + 5 1141 c.404C>A c.(403-405)gCa>gAa p.A135E MAGEB3_ENST00000378986.1_Missense_Mutation_p.A135E NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 135 MAGE. p.A135E(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 ATTATGAAAGCAGATATGCTA 0.383000 38 103 6.1244e-12 7.21372e-12 0.834066 1 0 EMR1 2015 broad.mit.edu 37 19 6935052 6935052 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:6935052A>T ENST00000312053.4 + 18 2381 c.2344A>T c.(2344-2346)Agt>Tgt p.S782C EMR1_ENST00000381407.5_Missense_Mutation_p.S641C|EMR1_ENST00000450315.3_Missense_Mutation_p.S605C|EMR1_ENST00000250572.8_Missense_Mutation_p.S717C|EMR1_ENST00000381404.4_Missense_Mutation_p.S763C NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 782 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.S782C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GAGGCTTTCCAGTGTTAATGC 0.468000 47 173 0 0 0.870114 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69034512 69034512 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:69034512G>T ENST00000295381.3 + 5 990 c.571G>T c.(571-573)Ggc>Tgc p.G191C ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184C|ARHGAP25_ENST00000456116.2_3'UTR NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 191 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.G185C(2)|p.G192C(2) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CCTGGAGCACGGCCGGAATGA 0.582000 54 136 1.59911e-31 2.38268e-31 0.870114 1 0 RMND5A 64795 broad.mit.edu 37 2 86997154 86997154 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:86997154C>G ENST00000283632.4 + 7 1358 c.863C>G c.(862-864)gCa>gGa p.A288G RMND5A_ENST00000472843.1_3'UTR NM_022780.3 NP_073617.1 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog A (S. cerevisiae) 288 p.A288G(2) kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 AGTTTCTCAGCAGGTTGTGTG 0.502000 151 313 0 0 0.870114 0 0 KLHL34 257240 broad.mit.edu 37 X 21674559 21674559 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:21674559G>A ENST00000379499.2 - 1 1889 c.1348C>T c.(1348-1350)Cgg>Tgg p.R450W NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 450 p.R450W(1) cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 CAGCGGTCCCGACGCAGGTCG 0.741000 7 3 0 0 0.278610 0 0 ALS2 57679 broad.mit.edu 37 2 202593271 202593271 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:202593271C>A ENST00000264276.6 - 15 3177 c.2805G>T c.(2803-2805)tgG>tgT p.W935C ALS2_ENST00000457679.2_Missense_Mutation_p.W247C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 935 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity p.W935C(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AGAGAATGAACCAATTCACGG 0.483000 171 121 4.34395e-57 7.39713e-57 0.870114 1 0 CPS1 1373 broad.mit.edu 37 2 211473091 211473091 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:211473091A>G ENST00000233072.5 + 19 2395 c.2199A>G c.(2197-2199)ccA>ccG p.P733P CPS1_ENST00000451903.2_Silent_p.P282P|CPS1_ENST00000430249.2_Silent_p.P739P NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 733 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.P739P(2)|p.P733P(2) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATAGCTACCCATTGGCATTCA 0.363000 64 37 0 0 0.870114 0 0 OR51M1 390059 broad.mit.edu 37 11 5411400 5411400 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:5411400T>A ENST00000328611.3 + 1 794 c.772T>A c.(772-774)Tgt>Agt p.C258S AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 258 integral to membrane olfactory receptor activity p.C258S(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGCTCCTCTCTGTGCTGTGCT 0.562000 22 125 0 0 0.870114 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711455 195711455 + RNA SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:195711455C>A ENST00000427841.1 - 0 492 NR_003264.2 CAGAGCCTCCCGCCCATCACC 0.567000 8 94 1.02788e-11 1.19187e-11 0.520397 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011313 105011313 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:105011313G>A ENST00000372582.1 + 11 2476 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E574K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E179K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 574 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity p.E574K(2) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGACTCCGCAGAACAAGGACT 0.438000 42 105 0 0 0.819951 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701585 23701585 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:23701585C>A ENST00000397312.2 - 5 779 c.505G>T c.(505-507)Ggg>Tgg p.G169W ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198W|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169W NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 169 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.G169W(2) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CGAATAAACCCTACACCCCTT 0.433000 41 55 6.33695e-27 9.16704e-27 0.834066 1 0 MUC17 140453 broad.mit.edu 37 7 100681561 100681561 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:100681561C>G ENST00000306151.4 + 3 6928 c.6864C>G c.(6862-6864)caC>caG p.H2288Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2288 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.H2288Q(2) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTCAGCCACACGCTGGTGG 0.478000 132 260 0 0 0.870114 0 0 NRK 203447 broad.mit.edu 37 X 105132286 105132286 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:105132286G>T ENST00000428173.2 + 5 555 c.e5-1 NRK_ENST00000243300.9_Splice_Site|NRK_ENST00000536164.1_Splice_Site Q7Z2Y5 NRK_HUMAN Nik related kinase ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.?(4) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TTATTCCATAGGATGAGGAAG 0.398000 HNSCC(51;0.14) 5 19 3.59834e-05 3.77572e-05 0.217242 1 0 KRT85 3891 broad.mit.edu 37 12 52761049 52761049 + Silent SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:52761049C>T ENST00000257901.3 - 1 216 c.141G>A c.(139-141)ggG>ggA p.G47G NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 47 Head. epidermis development keratin filament protein binding|structural molecule activity p.G47G(2) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCCGTCAGCCCTCGGTAGC 0.682000 14 35 0 0 0.639603 0 0 TEKT1 83659 broad.mit.edu 37 17 6704149 6704149 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:6704149G>T ENST00000338694.2 - 7 1095 c.966C>A c.(964-966)caC>caA p.H322Q TEKT1_ENST00000535086.1_Missense_Mutation_p.H176Q NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 322 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.H322_R323>QG(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CGTTCGGCCGGTGTGTCCTGG 0.522000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 115 187 6.10253e-70 1.05119e-69 0.870114 1 0 IHH 3549 broad.mit.edu 37 2 219920175 219920175 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:219920175G>A ENST00000295731.5 - 3 989 c.990C>T c.(988-990)gcC>gcT p.A330A NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 330 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity p.A330A(2) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGAGCGGGGCGTAGGCCC 0.682000 60 38 0 0 0.870114 0 0 NLN 57486 broad.mit.edu 37 5 65077169 65077169 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:65077169A>G ENST00000380985.5 + 6 921 c.743A>G c.(742-744)tAt>tGt p.Y248C NLN_ENST00000502464.1_Missense_Mutation_p.Y144C NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 248 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity p.Y248C(2) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TATCCACACTATTTCCCTGTC 0.328000 48 45 0 0 0.870114 0 0 FAM129C 199786 broad.mit.edu 37 19 17643134 17643134 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:17643134G>T ENST00000335393.4 + 4 480 c.342G>T c.(340-342)cgG>cgT p.R114R FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000300971.2_Silent_p.R114R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599124.1_Silent_p.R83R|FAM129C_ENST00000332386.5_Silent_p.R114R|FAM129C_ENST00000601861.1_Silent_p.R83R|FAM129C_ENST00000352727.3_Silent_p.R114R|FAM129C_ENST00000600871.1_Silent_p.R60R|FAM129C_ENST00000599164.1_Silent_p.R83R|FAM129C_ENST00000595684.1_Silent_p.R114R NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 114 p.R114R(4) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 ACCCACCCCGGTGGCAGCCGA 0.647000 29 112 1.57351e-24 2.19116e-24 0.788014 1 0 GRAMD1A 57655 broad.mit.edu 37 19 35500129 35500129 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:35500129A>G ENST00000599564.1 + 3 447 c.376A>G c.(376-378)Acc>Gcc p.T126A GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T39A|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.T39A Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 39 GRAM. integral to membrane p.T39A(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGAACCAGGCACCATGGTGGA 0.662000 58 40 0 0 0.870114 0 0 OR52A1 23538 broad.mit.edu 37 11 5173255 5173255 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:5173255G>A ENST00000380367.1 - 2 762 c.345C>T c.(343-345)ggC>ggT p.G115G OR52A1_ENST00000328942.1_Silent_p.G115G Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 115 sensory perception of smell integral to plasma membrane olfactory receptor activity p.G115G(2) breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACAAGGATGCCTGACTCTA 0.448000 13 33 0 0 0.411799 0 0 IP6K2 51447 broad.mit.edu 37 3 48726111 48726111 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:48726111G>A ENST00000328631.5 - 6 1099 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 292 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.F292F(4) biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CATTGTGGAAGAACTGGAAAA 0.562000 33 181 0 0 0.750413 0 0 SZT2 23334 broad.mit.edu 37 1 43907004 43907004 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:43907004T>C ENST00000562955.1 + 52 7293 c.7293T>C c.(7291-7293)ggT>ggC p.G2431G SZT2_ENST00000372442.1_Silent_p.G1589G NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2488 peroxisome p.G1589G(4)|p.G2431G(2) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGACTCCTGGTGGAGCTGAGC 0.572000 195 102 0 0 0.870114 0 0 OCA2 4948 broad.mit.edu 37 15 28326973 28326973 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:28326973C>A ENST00000354638.3 - 2 203 c.48G>T c.(46-48)gcG>gcT p.A16A OCA2_ENST00000382996.2_Silent_p.A16A|OCA2_ENST00000353809.5_Silent_p.A16A NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 16 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.A16A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GGAGCTCCACCGCCGGCGCGC 0.662000 Oculocutaneous Albinism 20 18 3.51602e-12 4.15783e-12 0.575678 1 0 POLR3C 10623 broad.mit.edu 37 1 145608466 145608466 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:145608466C>T ENST00000334163.3 - 3 501 c.341G>A c.(340-342)gGc>gAc p.G114D POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.G114D NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 114 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TGTCAGTTTGCCGTTCAACAG 0.463000 5 203 0 0 0.217242 0 0 CXorf61 203413 broad.mit.edu 37 X 115593061 115593061 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:115593061A>G ENST00000371894.4 - 2 335 c.189T>C c.(187-189)tcT>tcC p.S63S NM_001017978.2 NP_001017978.1 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 63 integral to membrane|plasma membrane p.S63S(3) breast(1)|large_intestine(3)|lung(8) 12 AAATATCCCGAGAGAGGTCGT 0.403000 85 167 0 0 0.870114 0 0 LILRA6 79168 broad.mit.edu 37 19 54742922 54742922 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:54742922C>A ENST00000396365.2 - 8 1392 c.1353G>T c.(1351-1353)atG>atT p.M451I LILRA6_ENST00000245621.5_Missense_Mutation_p.M434I|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron NM_024318.2 NP_077294.2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 p.M451I(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGCCATGCCCATGCGGATGA 0.577000 26 40 2.04263e-09 2.3057e-09 0.796494 1 0 ZNF766 90321 broad.mit.edu 37 19 52780771 52780771 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:52780771G>A ENST00000593612.1 + 2 417 c.40G>A c.(40-42)Gag>Aag p.E14K ZNF766_ENST00000359102.4_Missense_Mutation_p.E14K|ZNF766_ENST00000599581.1_Intron|ZNF766_ENST00000439461.1_Intron|ZNF766_ENST00000600821.1_Intron Q5HY98 ZN766_HUMAN zinc finger protein 766 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GAAAGCAGAGGAGTCAGGCAT 0.448000 4 9 0 0 0.150653 0 0 WRAP53 55135 broad.mit.edu 37 17 7592605 7592605 + Silent SNP C C T rs147817526 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:7592605C>T ENST00000316024.5 + 2 2843 c.495C>T c.(493-495)agC>agT p.S165S WRAP53_ENST00000457584.2_Silent_p.S165S|WRAP53_ENST00000431639.2_Silent_p.S165S|WRAP53_ENST00000396463.2_Silent_p.S165S|WRAP53_ENST00000534050.1_Intron Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 165 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding p.S165S(2) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 CAGAGTTCAGCACCCAACCTG 0.517000 54 66 0 0 0.870114 0 0 TMEM130 222865 broad.mit.edu 37 7 98449098 98449098 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:98449098C>T ENST00000450876.1 - 6 2015 c.700G>A c.(700-702)Gag>Aag p.E234K TMEM130_ENST00000546258.1_Missense_Mutation_p.E299K|TMEM130_ENST00000339375.4_Missense_Mutation_p.E318K|TMEM130_ENST00000416379.2_Missense_Mutation_p.E318K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E216K Q8N3G9 TM130_HUMAN transmembrane protein 130 318 Golgi membrane|integral to membrane p.E318K(2) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATGATATTCTCGGCCCGGATG 0.592000 64 110 0 0 0.870114 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1969835 1969835 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:1969835G>T ENST00000255641.8 + 2 559 c.64G>T c.(64-66)Ggc>Tgc p.G22C NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 22 sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity p.G22C(1) endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCCAAGGCCGGCGGGGGCCG 0.642000 5 11 0.000602214 0.000623125 0.184627 1 0 CACNA1E 777 broad.mit.edu 37 1 181480554 181480554 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:181480554G>A ENST00000526775.1 + 3 585 c.420G>A c.(418-420)ggG>ggA p.G140G CACNA1E_ENST00000360108.3_Silent_p.G140G|CACNA1E_ENST00000358338.5_Silent_p.G91G|CACNA1E_ENST00000367570.1_Silent_p.G140G|CACNA1E_ENST00000357570.5_Silent_p.G91G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.G140G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 140 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.G140G(4) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGAAGCTGGGATCAAAATTG 0.493000 174 384 0 0 0.870114 0 0 MYO3B 140469 broad.mit.edu 37 2 171257993 171257993 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:171257993G>T ENST00000334231.6 + 18 1948 c.1948G>T c.(1948-1950)Gcc>Tcc p.A650S MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A641S|MYO3B_ENST00000408978.4_Missense_Mutation_p.A641S Q8WXR4 MYO3B_HUMAN myosin IIIB 641 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity p.A641S(4) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTTTCAGCTGCCTCTGTTCT 0.502000 56 38 4.32865e-36 6.82507e-36 0.870114 1 0 TNR 7143 broad.mit.edu 37 1 175331945 175331945 + Splice_Site SNP A A C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:175331945A>C ENST00000367674.1 - 14 3416 c.2707_splice c.e14-1 p.V903_splice TNR_ENST00000263525.2_Splice_Site_p.V903_splice NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 903 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.V903G(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TAGTCGTCCCACTGGAGAAGA 0.488000 53 137 0 0 0.870114 0 0 TPTE 7179 broad.mit.edu 37 21 10910395 10910395 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr21:10910395A>T ENST00000298232.7 - 21 1674 c.1307T>A c.(1306-1308)cTt>cAt p.L436H TPTE_ENST00000342420.5_Missense_Mutation_p.L416H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L454H NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 454 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L436H(2)|p.L454H(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AATGTTATCAAGTACCTATGA 0.323000 26 106 0 0 0.654019 0 0 TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:7578469C>A ENST00000420246.2 - 5 593 c.461G>T c.(460-462)gGc>gTc p.G154V TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 154 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and 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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(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) GACGCGGGTGCCGGGCGGGGG 0.607000 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) 45 64 1.47857e-17 1.8992e-17 0.870114 1 0 NRK 203447 broad.mit.edu 37 X 105189911 105189911 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:105189911T>C ENST00000428173.2 + 25 4413 c.4110T>C c.(4108-4110)taT>taC p.Y1370Y NRK_ENST00000243300.9_Silent_p.Y1369Y Q7Z2Y5 NRK_HUMAN Nik related kinase 1369 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.Y1369Y(2)|p.Y1370Y(2) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACATGTCCTATCAAGCCTATA 0.438000 HNSCC(51;0.14) 5 33 0 0 0.278610 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925554 54925554 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:54925554C>A ENST00000293373.6 + 25 2805 c.2726C>A c.(2725-2727)aCc>aAc p.T909N NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T859N NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 909 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.T909N(2) 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 AAGCGCATGACCATCATTGGG 0.493000 36 141 5.43694e-19 7.0269e-19 0.812448 1 0 ZNF611 81856 broad.mit.edu 37 19 53208559 53208559 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:53208559G>C ENST00000543227.1 - 6 2023 c.1749C>G c.(1747-1749)tgC>tgG p.C583W ZNF611_ENST00000453741.2_Missense_Mutation_p.C514W|ZNF611_ENST00000595798.1_Missense_Mutation_p.C514W|ZNF611_ENST00000602162.1_Missense_Mutation_p.C514W|ZNF611_ENST00000319783.1_Missense_Mutation_p.C583W|ZNF611_ENST00000540744.1_Missense_Mutation_p.C583W NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C583W(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) CTCTATGATGGCATACAAGGT 0.423000 193 206 0 0 0.870114 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49032419 49032419 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:49032419C>A ENST00000376317.3 - 9 1545 c.1451G>T c.(1450-1452)gGa>gTa p.G484V PRICKLE3_ENST00000536904.1_Missense_Mutation_p.G403V|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.G320V|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.G416V NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 484 Missing (in Ref. 5; AAB92357). protein binding|zinc ion binding p.G484V(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 GCGCGGGCCTCCTTCAGACAC 0.701000 16 25 1.02788e-11 1.19187e-11 0.520397 1 0 KIAA1109 84162 broad.mit.edu 37 4 123229169 123229169 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:123229169C>A ENST00000264501.4 + 58 10280 c.9907C>A c.(9907-9909)Cat>Aat p.H3303N KIAA1109_ENST00000388738.3_Missense_Mutation_p.H3303N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H3303N Q2LD37 K1109_HUMAN KIAA1109 3303 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.H3303N(2) 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 AATGGCTTTACATAAGGATAT 0.413000 167 366 7.12906e-66 1.06339e-65 1 1 0 ADCK2 90956 broad.mit.edu 37 7 140380905 140380905 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:140380905G>C ENST00000072869.4 + 4 1451 c.1273G>C c.(1273-1275)Gca>Cca p.A425P ADCK2_ENST00000476491.1_Missense_Mutation_p.A425P NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 425 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity p.A425P(2) cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) AAGGAAGATTGCACGGCTGGG 0.567000 12 44 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154158393 154158393 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:154158393G>T ENST00000360256.4 - 14 3872 c.3672C>A c.(3670-3672)atC>atA p.I1224I NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1224 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.I1224I(4) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATTCTCTTGGATTAATGTTT 0.313000 59 143 4.96213e-28 6.49456e-28 1 1 0 NTRK1 4914 broad.mit.edu 37 1 156845459 156845459 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:156845459G>T ENST00000368196.3 + 11 1603 c.e11+1 NTRK1_ENST00000524377.1_Splice_Site|NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.?(4) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGTGATGCCTGTGAGGGGCTA 0.577000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 25 39 4.87955e-14 5.68926e-14 1 1 0 CFAP54 144535 broad.mit.edu 37 12 97051666 97051666 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:97051666G>C ENST00000524981.3 + 4 460 c.460G>C c.(460-462)Gaa>Caa p.E154Q Q6ZTY8 CL063_HUMAN 128 p.E128Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GCAGCCTATTGAAGACAAAGG 0.323000 15 490 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134261164 134261164 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:134261164C>A ENST00000457545.2 + 9 1067 c.807C>A c.(805-807)caC>caA p.H269Q AKR1B15_ENST00000423958.1_Missense_Mutation_p.H241Q NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 269 oxidoreductase activity p.H269Q(2)|p.H241Q(2)|p.H287Q(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CTGCAAAGCACAAAAAAACCA 0.443000 9 71 0.010729 0.01081 1 1 0 C3orf27 23434 broad.mit.edu 37 3 128292256 128292256 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:128292256T>C ENST00000356020.2 - 3 1283 c.317A>G c.(316-318)cAc>cGc p.H106R NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 106 p.H106R(2) large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) AGGCCCACAGTGGCACAGCAG 0.577000 35 68 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695897 64695897 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:64695897G>T ENST00000164133.2 + 6 1344 c.722_splice c.e6+1 p.R241_splice NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 241 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.R241L(2) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 ATCTTCCTCCGGTGAGTGGCT 0.607000 18 58 5.35356e-11 6.00588e-11 1 1 0 FAT3 120114 broad.mit.edu 37 11 92623916 92623916 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:92623916C>A ENST00000298047.6 + 27 13424 c.13407C>A c.(13405-13407)tcC>tcA p.S4469S FAT3_ENST00000409404.2_Silent_p.S4437S|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Silent_p.S772S|FAT3_ENST00000525166.1_Silent_p.S4319S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4469 Pro-rich. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.S1044S(2)|p.S4437S(2)|p.S4469S(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGCCACCCTCCCAGCCTGTCT 0.592000 TCGA Ovarian(4;0.039) 10 16 5.50884e-06 5.81367e-06 1 1 0 SH3PXD2A 9644 broad.mit.edu 37 10 105361828 105361828 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:105361828C>G ENST00000369774.4 - 15 3423 c.3147G>C c.(3145-3147)caG>caC p.Q1049H SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q1021H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q916H|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q884H|SH3PXD2A_ENST00000315994.6_5'UTR Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 1049 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding p.Q1021H(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TGCTGTTGCGCTGGGCGGGCA 0.622000 35 50 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394679 64394679 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:64394679T>C ENST00000262043.3 + 4 1396 c.1056T>C c.(1054-1056)aaT>aaC p.N352N PHF3_ENST00000509330.1_Silent_p.N352N|PHF3_ENST00000393387.1_Silent_p.N352N Q92576 PHF3_HUMAN PHD finger protein 3 352 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding p.N352N(1) breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CTTGTACAAATCCAAATAAGA 0.373000 8 174 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110496262 110496262 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:110496262A>G ENST00000324068.1 - 4 647 c.480T>C c.(478-480)aaT>aaC p.N160N CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 160 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding p.N160N(2) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCAGCAGAGCATTCCAAAACT 0.428000 138 291 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81049602 81049602 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:81049602G>A ENST00000334512.5 + 9 1068 c.496G>A c.(496-498)Gtg>Atg p.V166M ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 166 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding p.V166M(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTCCCTTTCCGTGGTCACCAC 0.577000 11 128 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150057694 150057694 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:150057694T>C ENST00000340413.2 - 6 779 c.703A>G c.(703-705)Act>Gct p.T235A NUP43_ENST00000460354.2_Missense_Mutation_p.T235A|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Intron NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 235 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.T235A(2) 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) TGGCCACCAGTAGCTACAACA 0.438000 33 99 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50092041 50092041 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:50092041T>C ENST00000371564.3 - 4 1708 c.1489A>G c.(1489-1491)Aaa>Gaa p.K497E NFATC2_ENST00000414705.1_Missense_Mutation_p.K477E|NFATC2_ENST00000396009.3_Missense_Mutation_p.K497E NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 497 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.K497E(2) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCCAGGACTTTGGTGTTGCCC 0.572000 114 109 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011313 105011313 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:105011313G>A ENST00000372582.1 + 11 2476 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E574K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E179K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 574 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity p.E574K(2) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGACTCCGCAGAACAAGGACT 0.438000 92 162 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112018498 112018498 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr9:112018498C>A ENST00000374566.3 - 9 1364 c.847G>T c.(847-849)Gat>Tat p.D283Y EPB41L4B_ENST00000374557.4_Missense_Mutation_p.D283Y NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 283 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton p.D283Y(4) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCACAGCCATCTCTTCCCTAC 0.398000 99 110 9.53166e-59 1.40605e-58 1 1 0 AGMO 392636 broad.mit.edu 37 7 15601381 15601381 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:15601381G>C ENST00000342526.3 - 1 259 c.90C>G c.(88-90)ttC>ttG p.F30L NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 30 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding p.F30L(2) breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CTAATGTTTGGAATGAAGTTT 0.403000 104 188 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811180 5811180 + Missense_Mutation SNP C C G rs4017999 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:5811180C>G ENST00000381095.3 - 6 2756 c.2129G>C c.(2128-2130)cGc>cCc p.R710P NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710P|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710P NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 710 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.R710P(2) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGGACTGGGGCGCCTGTGAGT 0.532000 45 62 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104709469 104709469 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr8:104709469G>C ENST00000406091.3 + 2 332 c.332G>C c.(331-333)tGc>tCc p.C111S NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 142 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.C111S(2)|p.C147S(2) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGTTCATATTGCCAAACAAAG 0.423000 HNSCC(12;0.0054) 317 1133 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899874 151899874 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:151899874A>G ENST00000393900.3 - 3 1280 c.927T>C c.(925-927)ttT>ttC p.F309F MAGEA12_ENST00000357916.4_Silent_p.F309F|MAGEA12_ENST00000393869.3_Silent_p.F309F|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 309 p.F309F(2) breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCCCCTCTCTAAAAGCCCATT 0.557000 185 372 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72038818 72038818 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:72038818T>A ENST00000378743.3 - 4 1476 c.1118A>T c.(1117-1119)cAg>cTg p.Q373L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 373 RNA processing intracellular metal ion binding p.Q373L(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AAGGCGAAGCTGTAATTCAGA 0.333000 19 49 0 0 1 0 0 TIFAB 497189 broad.mit.edu 37 5 134785501 134785501 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:134785501G>T ENST00000537858.1 - 2 329 c.129C>A c.(127-129)gaC>gaA p.D43E NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 43 FHA. p.D43E(2) breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGGTGGGCGTCCTGCCCCC 0.657000 14 8 8.04996e-18 9.81433e-18 1 1 0 PSG8 440533 broad.mit.edu 37 19 43359723 43359723 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:43359723C>A ENST00000401467.2 - 1 120 c.49G>T c.(49-51)Ggg>Tgg p.G17W PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 17 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AGCAGGACCCCCTTCCATTTG 0.572000 104 85 9.88213e-40 1.39605e-39 1 1 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 16 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1427297 1427297 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:1427297C>A ENST00000446702.2 + 20 3147 c.2520C>A c.(2518-2520)gtC>gtA p.V840V CNTN6_ENST00000539053.1_Silent_p.V768V|CNTN6_ENST00000350110.2_Silent_p.V840V Q9UQ52 CNTN6_HUMAN contactin 6 840 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.V840V(2) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTATCAGGTCTTATACTGGA 0.358000 32 197 3.28013e-08 3.54573e-08 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151162731 151162731 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:151162731T>A ENST00000282466.3 - 4 5037 c.5038A>T c.(5038-5040)Att>Ttt p.I1680F NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1680 Ig-like C2-type 3. cell differentiation|multicellular organismal development|ossification extracellular region p.I1680F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTCCAATGAATGGTGGGCAGG 0.398000 9 111 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175763780 175763780 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:175763780C>A ENST00000443967.1 + 10 2579 c.2172C>A c.(2170-2172)atC>atA p.I724I SIMC1_ENST00000341199.6_Silent_p.I309I|SIMC1_ENST00000430704.2_Silent_p.I309I|SIMC1_ENST00000332772.4_Silent_p.I185I SUMO-interacting motifs containing 1 p.I724I(2) TGTTAGAAATCATATTCCTCC 0.483000 134 64 5.80039e-70 8.79945e-70 1 1 0 NAV2 89797 broad.mit.edu 37 11 19955796 19955796 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:19955796C>A ENST00000396085.1 + 7 2367 c.2006C>A c.(2005-2007)aCt>aAt p.T669N NAV2_ENST00000396087.3_Missense_Mutation_p.T692N|NAV2_ENST00000540292.1_Missense_Mutation_p.T623N|NAV2_ENST00000349880.4_Missense_Mutation_p.T669N|NAV2_ENST00000527559.2_Missense_Mutation_p.T621N|NAV2_ENST00000360655.4_Missense_Mutation_p.T605N NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 692 nucleus ATP binding|helicase activity p.T692N(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATCCCAACACTGCCACGGTT 0.552000 40 88 1.465e-08 1.59656e-08 1 1 0 HAUS4 54930 broad.mit.edu 37 14 23421768 23421768 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:23421768T>C ENST00000206474.7 - 3 432 c.180A>G c.(178-180)ctA>ctG p.L60L RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000555367.1_Silent_p.L60L|HAUS4_ENST00000555986.1_Silent_p.L60L|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000342454.8_Silent_p.L60L|HAUS4_ENST00000397409.4_Silent_p.L60L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000347758.2_Silent_p.L60L|HAUS4_ENST00000541587.1_Silent_p.L60L Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 60 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle p.L60L(2) breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 GCTCCTTTGCTAGGGTGAGGC 0.468000 38 84 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34312507 34312507 + Silent SNP G G A rs143306375 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:34312507G>A ENST00000373381.4 - 6 1187 c.1011C>T c.(1009-1011)cgC>cgT p.R337R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 297 integral to membrane|plasma membrane protein binding p.R297R(2) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACTGAATCCGCGCTGCCGGT 0.607000 286 100 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156347121 156347121 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:156347121G>A ENST00000400992.2 + 3 378 c.10G>A c.(10-12)Gtg>Atg p.V4M RHBG_ENST00000255013.3_Missense_Mutation_p.V4M|RHBG_ENST00000451864.2_Missense_Mutation_p.V4M|RHBG_ENST00000368249.1_Missense_Mutation_p.V73M|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368246.2_Missense_Mutation_p.V73M Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 73 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.V73M(2)|p.V4M(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CATGGTCTTCGTGGGCTTTGG 0.627000 5 185 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131186710 131186710 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:131186710G>A ENST00000337057.3 - 17 2976 c.2795C>T c.(2794-2796)tCc>tTc p.S932F EPB41L2_ENST00000527411.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S674F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S674F|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S310F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S779F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S932F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S633F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S738F|EPB41L2_ENST00000531410.1_Missense_Mutation_p.S53F NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 932 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity p.S932F(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGTTGACACGGACTCAGATGT 0.458000 16 637 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129264072 129264072 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:129264072G>A ENST00000287295.3 - 15 1873 c.1643C>T c.(1642-1644)cCg>cTg p.P548L AIFM1_ENST00000460436.2_Missense_Mutation_p.P209L|AIFM1_ENST00000346424.2_Missense_Mutation_p.P261L|AIFM1_ENST00000319908.3_Missense_Mutation_p.P544L|AIFM1_ENST00000440263.1_Missense_Mutation_p.P196L|AIFM1_ENST00000535724.1_3'UTR NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 548 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.P544L(2)|p.P548L(2) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 TGGAACTGCCGGGGTGCTGGG 0.542000 158 283 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141259374 141259374 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:141259374G>T ENST00000286364.3 + 5 485 c.e5-1 RASA2_ENST00000452898.1_Splice_Site Q15283 RASA2_HUMAN RAS p21 protein activator 2 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.?(4) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TGTCATTATAGGGTAAAGTTC 0.328000 65 100 7.31121e-38 1.01671e-37 1 1 0 GABRA5 2558 broad.mit.edu 37 15 27128556 27128556 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:27128556C>T ENST00000335625.5 + 6 1237 c.349C>T c.(349-351)Cgc>Tgc p.R117C GABRA5_ENST00000355395.5_Missense_Mutation_p.R117C|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R117C|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 117 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R117C(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCCCATGCAGCGCCTCCCTCT 0.537000 56 88 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30327006 30327006 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:30327006C>A ENST00000378970.4 - 1 709 c.475G>T c.(475-477)Gct>Tct p.A159S NR0B1_ENST00000453287.1_Missense_Mutation_p.A159S NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 159 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding p.A159S(2) central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) GCTGCCGGAGCCACGTGCGTT 0.677000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 0.0477658 0.0479453 1 1 0 SEC24D 9871 broad.mit.edu 37 4 119659495 119659495 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:119659495C>A ENST00000379735.5 - 19 2691 c.2420G>T c.(2419-2421)cGg>cTg p.R807L SEC24D_ENST00000419654.2_Missense_Mutation_p.R362L|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.R437L|SEC24D_ENST00000280551.6_Missense_Mutation_p.R806L|SEC24D_ENST00000429811.2_Missense_Mutation_p.R362L NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 806 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.R806L(2) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TAGAATTTCCCGGATGACCTT 0.423000 103 222 1.56001e-33 2.13601e-33 1 1 0 EMC1 23065 broad.mit.edu 37 1 19564614 19564614 + Missense_Mutation SNP T T C rs144675935 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:19564614T>C ENST00000477853.1 - 11 1151 c.1109A>G c.(1108-1110)aAt>aGt p.N370S EMC1_ENST00000375199.3_Missense_Mutation_p.N369S|EMC1_ENST00000375208.3_Missense_Mutation_p.N348S|RP1-43E13.2_ENST00000437898.1_RNA NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 p.N370S(2) GTAGGTCTGATTGAAGCAAGC 0.547000 17 75 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39454487 39454487 + Nonsense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr13:39454487C>T ENST00000280481.7 + 24 9289 c.9073C>T c.(9073-9075)Cga>Tga p.R3025* NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 3025 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.R3025*(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAATGCCAATCGAGGTATTGG 0.448000 4 133 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65420411 65420411 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:65420411C>T ENST00000519389.1 + 12 2235 c.2056C>T c.(2056-2058)Ccc>Tcc p.P686S HEPH_ENST00000336279.5_Missense_Mutation_p.P365S|HEPH_ENST00000374727.3_Missense_Mutation_p.P635S|HEPH_ENST00000343002.2_Missense_Mutation_p.P632S|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.P635S Q9BQS7 HEPH_HUMAN hephaestin 632 Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.P632S(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CTCTAACCTGCCCAGGCTGGA 0.547000 28 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071071 9071071 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:9071071G>T ENST00000397910.4 - 3 16578 c.16375C>A c.(16375-16377)Ctg>Atg p.L5459M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5461 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L5459M(4)|p.L1092M(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 GTGTCCCCCAGGGTGGAGGTG 0.498000 175 422 3.46395e-70 5.28501e-70 1 1 0 MKI67 4288 broad.mit.edu 37 10 129904904 129904904 + Nonsense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:129904904T>A ENST00000368654.3 - 13 5575 c.5200A>T c.(5200-5202)Aaa>Taa p.K1734* MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1374* NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1734 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding p.K1734*(2) 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) TAGGATACTTTGGTAGTTTTT 0.488000 49 80 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15651310 15651310 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:15651310G>T ENST00000269703.2 + 8 920 c.721G>T c.(721-723)Gtc>Ttc p.V241F CYP4F22_ENST00000601005.2_Missense_Mutation_p.V241F NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 241 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.V241F(2) endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CGCTCTGTCTGTCCGGCGCCA 0.557000 30 80 1.36615e-20 1.70449e-20 1 1 0 MTR 4548 broad.mit.edu 37 1 237052487 237052487 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:237052487C>T ENST00000366577.5 + 28 3252 c.2858C>T c.(2857-2859)cCc>cTc p.P953L MTR_ENST00000535889.1_Missense_Mutation_p.P902L NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 953 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.P953L(2) 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) GTAGTGAAGCCCACGTTTATT 0.557000 53 145 0 0 1 0 0 PRKAA1 5562 broad.mit.edu 37 5 40798230 40798230 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:40798230C>A ENST00000397128.2 - 1 70 c.62G>T c.(61-63)cGg>cTg p.R21L PRKAA1_ENST00000354209.3_Missense_Mutation_p.R21L|PRKAA1_ENST00000296800.4_Missense_Mutation_p.R12L NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 21 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding p.R21L(2) breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) GATCTTCACCCGCCCGTCGTG 0.667000 12 20 9.7654e-05 9.98989e-05 1 1 0 B4GALNT1 2583 broad.mit.edu 37 12 58023958 58023958 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:58023958T>C ENST00000341156.4 - 6 1273 c.689A>G c.(688-690)tAc>tGc p.Y230C B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Y175C|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Y230C NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 230 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.Y230C(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GTTGGTCTGGTAGCTTCGGCT 0.572000 38 100 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37126007 37126007 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:37126007G>T ENST00000262879.6 + 4 685 c.401G>T c.(400-402)gGt>gTt p.G134V RALGAPB_ENST00000397040.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000537204.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G134V Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 134 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.G134V(2) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGGAACAGGGTTCCAGTCAG 0.498000 38 18 1.23713e-20 1.55077e-20 1 1 0 TULP3 7289 broad.mit.edu 37 12 3042678 3042678 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:3042678G>A ENST00000448120.2 + 7 842 c.791G>A c.(790-792)aGt>aAt p.S264N TULP3_ENST00000397132.2_Missense_Mutation_p.S264N NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 264 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding p.S264N(1) endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GAAGGAGAAAGTTATGTCGGC 0.398000 6 147 0 0 1 0 0 EXOSC7 23016 broad.mit.edu 37 3 45038682 45038682 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:45038682G>T ENST00000265564.7 + 4 406 c.358G>T c.(358-360)Gac>Tac p.D120Y EXOSC7_ENST00000461361.1_3'UTR NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 120 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding p.D120Y(2) endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) AAGCAGTGTCGACTTAAAGAC 0.488000 56 137 4.1673e-28 5.48113e-28 1 1 0 TLR6 10333 broad.mit.edu 37 4 38831004 38831004 + Nonsense_Mutation SNP C C A rs138225547 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:38831004C>A ENST00000436693.2 - 2 210 c.91G>T c.(91-93)Gga>Tga p.G31* TLR6_ENST00000381950.1_Nonsense_Mutation_p.G31* NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 31 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.G31*(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AATTCATTTCCGTCGGAGAAC 0.373000 64 149 1.20873e-29 1.61366e-29 1 1 0 FLNC 2318 broad.mit.edu 37 7 128496848 128496848 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:128496848C>A ENST00000325888.8 + 45 7695 c.7434C>A c.(7432-7434)atC>atA p.I2478I RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2445I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2478 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.I2478I(2) 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 TCCACTCCATCGATGTCAAGT 0.592000 24 29 4.3181e-19 5.33765e-19 1 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821138 5821138 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:5821138C>A ENST00000381095.3 - 5 2208 c.1581G>T c.(1579-1581)tgG>tgT p.W527C NLGN4X_ENST00000275857.6_Missense_Mutation_p.W527C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.W527C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.W547C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.W527C NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 527 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.W527C(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 CGAAGTTCGTCCAGTAGGTCA 0.502000 8 169 3.86212e-05 3.98141e-05 1 1 0 GABBR2 9568 broad.mit.edu 37 9 101235551 101235551 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr9:101235551C>A ENST00000259455.2 - 6 1335 c.876G>T c.(874-876)caG>caT p.Q292H GABBR2_ENST00000477471.1_5'UTR NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 292 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.Q292H(2) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CCGTGTGCACCTGCTCCCACC 0.537000 62 56 4.66136e-34 6.44862e-34 1 1 0 CDH23 64072 broad.mit.edu 37 10 73270728 73270728 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:73270728C>A ENST00000224721.6 + 4 311 c.306C>A c.(304-306)acC>acA p.T102T CDH23_ENST00000461841.3_Silent_p.T147T|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Silent_p.T102T|CDH23_ENST00000398809.4_Silent_p.T102T|CDH23_ENST00000299366.7_Silent_p.T147T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 102 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.T102T(4) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGAGTTCACCGTGGAGTTCT 0.617000 23 45 2.61193e-14 3.05871e-14 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113988081 113988081 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr8:113988081C>A ENST00000297405.5 - 7 1571 c.1327G>T c.(1327-1329)Gtt>Ttt p.V443F CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V443F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V403F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 443 integral to membrane|plasma membrane p.V403F(2)|p.V443F(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 TGAGTAACAACTGCAAGCTCT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 55 155 2.20561e-19 2.73906e-19 1 1 0 C10orf71 118461 broad.mit.edu 37 10 50531828 50531828 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:50531828C>T ENST00000374144.3 + 3 1526 c.1238C>T c.(1237-1239)aCa>aTa p.T413I C10orf71_ENST00000323868.4_Missense_Mutation_p.T413I Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 413 p.T413I(2) endometrium(1) 1 CCTTTGTATACAAAACACAAC 0.438000 7 155 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248757058 248757058 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248757058G>T ENST00000330500.2 - 1 42 c.12C>A c.(10-12)gcC>gcA p.A4A NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A4A(2) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) GGGTCTGGTTGGCCAGCCGCA 0.458000 43 88 1.5731e-28 2.0793e-28 1 1 0 OTUD7B 56957 broad.mit.edu 37 1 149915924 149915924 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:149915924C>A ENST00000369135.3 - 12 2658 c.2364G>T c.(2362-2364)tgG>tgT p.W788C NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 788 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding p.W788C(2) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GACCTCCAGCCCATCCATCTG 0.547000 102 223 1.44786e-46 2.10097e-46 1 1 0 EPX 8288 broad.mit.edu 37 17 56270454 56270454 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:56270454G>C ENST00000225371.5 + 2 242 c.132G>C c.(130-132)aaG>aaC p.K44N NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 44 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding p.K44N(2) breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CAGAGGCCAAGTTGCTGGTGG 0.617000 121 244 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55361675 55361675 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:55361675C>A ENST00000290552.7 + 4 1923 c.591C>A c.(589-591)ttC>ttA p.F197L RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 197 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F197L(2) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCACCTGGTTCGCCAACGCAC 0.577000 21 48 1.96895e-08 2.13703e-08 1 1 0 IDS 3423 broad.mit.edu 37 X 148564704 148564704 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:148564704G>A ENST00000340855.6 - 9 1435 c.1226C>T c.(1225-1227)aCg>aTg p.T409M IDS_ENST00000537071.1_Missense_Mutation_p.T12M|IDS_ENST00000541269.1_Missense_Mutation_p.T198M|AF011889.5_ENST00000422081.1_RNA NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 409 lysosome iduronate-2-sulfatase activity|metal ion binding p.T409M(2) NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCAGCCAGCGTGGGAAAAAG 0.512000 47 155 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89920950 89920950 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:89920950G>T ENST00000405460.2 + 6 658 c.562G>T c.(562-564)Gag>Tag p.E188* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 188 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.E188*(2) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGCAGGTAGAGGGTGGCCC 0.393000 37 15 3.38236e-24 4.34178e-24 1 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64133210 64133210 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:64133210G>T ENST00000295902.6 - 7 1541 c.956C>A c.(955-957)tCt>tAt p.S319Y PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S375Y NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 319 cytoplasm|nuclear membrane zinc ion binding p.S319Y(2) breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGAGGAGTCAGAACCATTGGG 0.607000 22 113 4.7796e-09 5.29525e-09 1 1 0 OR14I1 401994 broad.mit.edu 37 1 248845133 248845133 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248845133G>T ENST00000342623.3 - 1 496 c.473C>A c.(472-474)aCt>aAt p.T158N NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T158N(2) NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CATGTTGCCAGTGTGGACGGC 0.547000 26 64 1.2476e-16 1.50049e-16 1 1 0 KRT3 3850 broad.mit.edu 37 12 53189527 53189527 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:53189527G>T ENST00000417996.2 - 1 374 c.300C>A c.(298-300)ggC>ggA p.G100G KRT3_ENST00000309505.3_Silent_p.G100G NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 100 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.G100G(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 cacctccatagccgctcccaa 0.652000 9 15 2.52707e-12 2.87118e-12 1 1 0 BPI 671 broad.mit.edu 37 20 36964032 36964032 + Missense_Mutation SNP C C A rs143433981 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:36964032C>A ENST00000262865.4 + 14 1470 c.1381C>A c.(1381-1383)Ccg>Acg p.P461T BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 461 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding p.P461T(2) kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTCCCGACGCCGGCCAGAGT 0.562000 98 98 2.52272e-32 3.38476e-32 1 1 0 SOX30 11063 broad.mit.edu 37 5 157053465 157053465 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:157053465G>A ENST00000265007.6 - 5 2486 c.2145C>T c.(2143-2145)gaC>gaT p.D715D SOX30_ENST00000519442.1_Silent_p.D410D|SOX30_ENST00000311371.5_3'UTR NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 715 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity p.D715D(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGTTCCAATGTCCAGCTGAG 0.453000 6 170 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57960335 57960335 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:57960335A>G ENST00000216445.3 - 1 235 c.99T>C c.(97-99)ttT>ttC p.F33F C14orf105_ENST00000526336.1_Silent_p.F33F|C14orf105_ENST00000534126.1_Silent_p.F33F|C14orf105_ENST00000422976.2_Silent_p.F33F NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 33 p.F33F(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 GATTGAATGCAAAGTCCACAC 0.463000 96 225 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69882001 69882001 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:69882001C>T ENST00000358913.5 + 2 1294 c.806C>T c.(805-807)cCc>cTc p.P269L MYPN_ENST00000540630.1_Missense_Mutation_p.P269L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.P269L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 269 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding p.P269L(2) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGGCAACCTCCCCGGTTCACT 0.527000 19 93 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55716908 55716908 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:55716908G>T ENST00000376350.3 - 4 427 c.405C>A c.(403-405)atC>atA p.I135I PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 135 Fibronectin type-III 2. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.I135I(2) breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGGTCAGGGCGATGGAGCTGT 0.587000 25 18 3.28513e-13 3.7645e-13 1 1 0 STX18 53407 broad.mit.edu 37 4 4458978 4458978 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:4458978C>G ENST00000306200.2 - 5 500 c.437G>C c.(436-438)tGt>tCt p.C146S STX18_ENST00000505286.1_Missense_Mutation_p.C146S NM_016930.2 NP_058626.1 Q9P2W9 STX18_HUMAN syntaxin 18 146 ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity p.C146S(2) large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) GTAAAGTTTACATACTCCTGT 0.353000 51 147 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080061 54080061 + Missense_Mutation SNP T T C rs146144933 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:54080061T>C ENST00000253144.9 + 7 1580 c.247T>C c.(247-249)Tgg>Cgg p.W83R ZNF331_ENST00000449416.1_Missense_Mutation_p.W83R|ZNF331_ENST00000511593.2_Missense_Mutation_p.W83R|ZNF331_ENST00000411977.2_Missense_Mutation_p.W83R|ZNF331_ENST00000513999.1_Missense_Mutation_p.W83R|ZNF331_ENST00000513265.1_Missense_Mutation_p.W83R|ZNF331_ENST00000512387.1_Missense_Mutation_p.W83R|ZNF331_ENST00000511154.1_Missense_Mutation_p.W83R NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.W83R(1) NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TGGCCGTAACTGGATATGTGA 0.393000 T ? follicular thyroid adenoma 3 49 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124731954 124731954 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:124731954G>A ENST00000311127.4 - 6 2536 c.2469C>T c.(2467-2469)tcC>tcT p.S823S NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 823 extracellular region|integral to membrane calcium ion binding p.S823S(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TTTGCTCTGTGGAGGACTCTG 0.478000 62 125 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049524 11049524 + RNA SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr21:11049524G>T ENST00000470054.1 - 0 584 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) CTGTATCCAGGCACATTCCAT 0.458000 118 252 8.17084e-111 1.26105e-110 1 1 0 KDM3B 51780 broad.mit.edu 37 5 137722285 137722285 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:137722285G>A ENST00000314358.5 + 7 1555 c.1355G>A c.(1354-1356)gGc>gAc p.G452D KDM3B_ENST00000394866.1_Missense_Mutation_p.G108D|KDM3B_ENST00000542866.1_5'UTR NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 452 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.G452D(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAACAGAAAGGCAGCCGGTCG 0.527000 30 77 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47699995 47699995 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr21:47699995T>C ENST00000397708.1 - 5 1833 c.1579A>G c.(1579-1581)Agc>Ggc p.S527G MCM3AP_ENST00000291688.1_Missense_Mutation_p.S527G O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 527 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding p.S527G(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GTGCTCGGGCTGACTTCACCG 0.532000 35 76 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144855788 144855788 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:144855788C>A ENST00000369359.4 - 44 7211 c.7173G>T c.(7171-7173)tgG>tgT p.W2391C PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W2340C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W2149C|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2255 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.W2255C(4) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGGCCGCTCTCCAGAACATGG 0.582000 T PDGFRB MPD 26 95 9.39395e-14 1.08111e-13 1 1 0 OR2T2 401992 broad.mit.edu 37 1 248616139 248616139 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248616139T>G ENST00000342927.3 + 1 63 c.41T>G c.(40-42)gTc>gGc p.V14G NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V14S(2)|p.V14A(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) ACTAACTTCGTCCTCACAGGC 0.502000 30 247 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10382279 10382279 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:10382279G>A ENST00000397077.1 - 19 3467 c.2892C>T c.(2890-2892)aaC>aaT p.N964N ATP2B2_ENST00000352432.4_Silent_p.N1009N|ATP2B2_ENST00000343816.4_Silent_p.N995N|ATP2B2_ENST00000383800.4_Silent_p.N964N|ATP2B2_ENST00000360273.2_Silent_p.N1009N Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1009 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding p.N1009N(2)|p.N964N(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGTTGATCTCGTTGAAGAGCT 0.562000 115 383 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78325854 78325854 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:78325854C>A ENST00000255189.3 - 11 1715 c.1687G>T c.(1687-1689)Ggt>Tgt p.G563C DMGDH_ENST00000380311.4_Missense_Mutation_p.G362C|DMGDH_ENST00000540686.1_Missense_Mutation_p.G183C NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 563 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity p.G563C(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTTGTAAAACCCACCTACATA 0.348000 14 64 7.93312e-07 8.5066e-07 1 1 0 CCDC129 223075 broad.mit.edu 37 7 31690852 31690852 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:31690852C>T ENST00000319386.3 + 12 3229 c.2236C>T c.(2236-2238)Ctc>Ttc p.L746F CCDC129_ENST00000409210.1_Missense_Mutation_p.L802F|CCDC129_ENST00000407970.3_Missense_Mutation_p.L894F|CCDC129_ENST00000451887.2_Missense_Mutation_p.L920F Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 894 p.L894F(2)|p.L746F(2) cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACAGCAGGCCCTCTTTTCCAG 0.473000 165 303 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059153 248059153 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248059153G>T ENST00000537741.1 + 3 522 c.265G>T c.(265-267)Gac>Tac p.D89Y OR2W3_ENST00000360358.3_Missense_Mutation_p.D89Y Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D89Y(2) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TAATGGATGTGACAAGACCAT 0.567000 80 200 2.9056e-39 4.06176e-39 1 1 0 BTK 695 broad.mit.edu 37 X 100613339 100613339 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:100613339G>A ENST00000308731.7 - 12 1224 c.1061C>T c.(1060-1062)aCc>aTc p.T354I BTK_ENST00000372880.1_Intron NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 354 SH2. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding p.T354I(2) breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTCAGGGATGGTGCTGAAAAG 0.502000 Agammaglobulinemia, X-linked 193 360 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45568239 45568239 + RNA SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:45568239C>A ENST00000256692.5 - 0 446 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATCCCAGGGCCACCAGCCGCC 0.473000 30 57 1.88708e-17 2.27987e-17 1 1 0 C10orf53 282966 broad.mit.edu 37 10 50916417 50916417 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:50916417C>A ENST00000374112.3 + 3 240 c.228C>A c.(226-228)acC>acA p.T76T C10orf53_ENST00000535836.1_Silent_p.T76T NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 79 p.T76T(2) endometrium(1)|lung(6) 7 all_neural(218;0.107) gcaagctcaccccaagtagtg 0.493000 83 160 1.39521e-32 1.90061e-32 1 1 0 ABCA5 23461 broad.mit.edu 37 17 67300882 67300882 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:67300882T>C ENST00000392676.3 - 7 922 c.858A>G c.(856-858)acA>acG p.T286T ABCA5_ENST00000392677.2_Silent_p.T286T|ABCA5_ENST00000588877.1_Silent_p.T286T Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 286 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity p.T286T(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) ACAAAGAAGCTGTCGCAATGA 0.323000 34 81 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000141 56000141 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:56000141C>A ENST00000313264.4 - 1 596 c.521G>T c.(520-522)aGc>aTc p.S174I NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S174I(2) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GGGTGACATGCTCACTGAATA 0.433000 318 555 7.98914e-189 1.24743e-188 1 1 0 NOLC1 9221 broad.mit.edu 37 10 103917833 103917833 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:103917833G>T ENST00000405356.1 + 5 704 c.469G>T c.(469-471)Gcc>Tcc p.A157S NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_Missense_Mutation_p.A157S|NOLC1_ENST00000488254.2_Missense_Mutation_p.A158S Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 157 11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding p.A157S(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) AGCCAAGGCAGCCAAAGCTCC 0.488000 38 80 1.86633e-21 2.35052e-21 1 1 0 OR10A4 283297 broad.mit.edu 37 11 6898596 6898596 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:6898596T>G ENST00000379829.2 + 1 741 c.718T>G c.(718-720)Tcc>Gcc p.S240A NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S240A(2) kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGGCATTCTCCACCTGTTC 0.507000 43 298 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 41 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887584 23887584 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:23887584G>A ENST00000355349.3 - 30 4166 c.4004C>T c.(4003-4005)tCg>tTg p.S1335L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335L(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGCCGGGCCGACTGCAGTGC 0.657000 4 32 0 0 1 0 0 DDX49 54555 broad.mit.edu 37 19 19033422 19033422 + Silent SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:19033422C>T ENST00000438170.2 + 7 736 c.324C>T c.(322-324)acC>acT p.T108T DDX49_ENST00000599156.1_Intron|DDX49_ENST00000247003.4_Silent_p.T215T|AC002985.3_ENST00000596918.1_Intron Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 215 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding p.T215T(2) breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 18 Epithelial(12;0.0289) GGGTGAGCACCGTGGAGCAGC 0.637000 6 21 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31273080 31273080 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:31273080G>T ENST00000544665.3 + 2 167 c.96G>T c.(94-96)agG>agT p.R32S ITGAM_ENST00000287497.8_Missense_Mutation_p.R32S NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 32 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.R32S(2) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGAACGCAAGGGGCTTCGGGC 0.517000 99 165 3.90656e-58 5.73106e-58 1 1 0 EP400 57634 broad.mit.edu 37 12 132510236 132510236 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:132510236G>T ENST00000333577.4 + 26 5118 c.5009G>T c.(5008-5010)cGa>cTa p.R1670L EP400_ENST00000330386.6_Missense_Mutation_p.R1553L|EP400_ENST00000389561.2_Missense_Mutation_p.R1634L|EP400_ENST00000332482.4_Missense_Mutation_p.R1597L|EP400_ENST00000389562.2_Missense_Mutation_p.R1633L Q96L91 EP400_HUMAN E1A binding protein p400 1670 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.R1633L(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCTACCTTCGAGCCCCTGGC 0.672000 8 15 2.17888e-05 2.28141e-05 1 1 0 SLC30A9 10463 broad.mit.edu 37 4 42003698 42003698 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:42003698G>C ENST00000264451.6 + 2 355 c.175G>C c.(175-177)Ggt>Cgt p.G59R NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 59 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity p.G59R(2) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCATATATTGGTACCCTGAG 0.353000 115 232 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. 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.Q210Q(2) 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 agcagcaacagcagcagcagc 0.502000 19 65 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538029 42538029 + RNA SNP A A G rs1058167 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr22:42538029A>G ENST00000433992.1 - 0 803 CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 TGGGATGTGCAGGAGGACGGG 0.592000 4 83 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32048735 32048735 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:32048735G>T ENST00000438447.1 + 8 1998 c.1610G>T c.(1609-1611)cGa>cTa p.R537L PDZD2_ENST00000282493.3_Missense_Mutation_p.R537L O15018 PDZD2_HUMAN PDZ domain containing 2 537 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.R537L(2) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GAGGTCTCCCGAGATGGCCGG 0.562000 12 67 2.23348e-06 2.38536e-06 1 1 0 COQ7 10229 broad.mit.edu 37 16 19087069 19087069 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:19087069G>T ENST00000321998.5 + 4 460 c.394G>T c.(394-396)Gaa>Taa p.E132* COQ7_ENST00000569127.1_Nonsense_Mutation_p.E109*|COQ7_ENST00000568985.1_Nonsense_Mutation_p.E132*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.E94* NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 132 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding p.E132*(2) breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 GCTCGGGAAGGAAGGTGCCAT 0.552000 16 101 1.45105e-14 1.70674e-14 1 1 0 ZDHHC9 51114 broad.mit.edu 37 X 128957764 128957764 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:128957764G>A ENST00000357166.6 - 5 769 c.378C>T c.(376-378)atC>atT p.I126I ZDHHC9_ENST00000371064.3_Silent_p.I126I|ZDHHC9_ENST00000491039.1_5'UTR NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 126 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding p.I126I(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 GGAAATTCTTGATACGAGGCG 0.493000 25 387 0 0 1 0 0 PMPCB 9512 broad.mit.edu 37 7 102937953 102937953 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:102937953G>T ENST00000249269.4 + 1 85 c.47G>T c.(46-48)cGg>cTg p.R16L PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R16L NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 16 RR -> GG (in Ref. 1; AAC39915). proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding p.R16L(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCGGCGCGGCGGCGGCTCTGG 0.652000 OREG0018240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 18 5.3912e-06 5.73487e-06 1 1 0 PSG8 440533 broad.mit.edu 37 19 43359724 43359724 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:43359724C>A ENST00000401467.2 - 1 119 c.48G>T c.(46-48)aaG>aaT p.K16N PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 16 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCAGGACCCCCTTCCATTTGA 0.572000 106 83 2.54656e-39 3.57859e-39 1 1 0 PCLO 27445 broad.mit.edu 37 7 82764395 82764395 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:82764395G>A ENST00000423517.2 - 3 2808 c.2471C>T c.(2470-2472)cCt>cTt p.P824L PCLO_ENST00000333891.8_Missense_Mutation_p.P824L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 770 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P824L(4)|p.P770L(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTGATGCAGGTCGAGGTAT 0.438000 111 195 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060247 16060247 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:16060247C>G ENST00000322107.1 + 1 430 c.430C>G c.(430-432)Cat>Gat p.H144D NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 144 H -> R (in dbSNP:rs16980822). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H144D(2) breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 TGACTGTGCCCATCTTGTGGC 0.542000 87 194 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158622310 158622310 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:158622310C>A ENST00000368148.3 - 23 3502 c.3322G>T c.(3322-3324)Gtg>Ttg p.V1108L SPTA1_ENST00000368147.3_Missense_Mutation_p.V1108L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1108 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.V1108L(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTAGTTCCACTCCAGTGTTT 0.408000 81 192 5.12525e-22 6.4855e-22 1 1 0 NEK4 6787 broad.mit.edu 37 3 52794870 52794870 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:52794870T>A ENST00000233027.5 - 6 1106 c.904A>T c.(904-906)Aat>Tat p.N302Y NEK4_ENST00000535191.1_Missense_Mutation_p.N213Y|NEK4_ENST00000383721.4_Missense_Mutation_p.N302Y NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 302 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity p.N302Y(2) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) ACTTCATGATTTGATTCTGCC 0.378000 75 76 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20824527 20824527 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:20824527G>T ENST00000304031.3 - 5 774 c.749C>A c.(748-750)cCa>cAa p.P250Q NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 250 cell communication phosphatidylinositol binding p.P250Q(2) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGGTCCTGTGGAGACAGCTT 0.642000 3 35 8.12818e-05 8.34702e-05 1 1 0 KIF2B 84643 broad.mit.edu 37 17 51900791 51900791 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:51900791G>T ENST00000268919.4 + 1 553 c.397G>T c.(397-399)Gtg>Ttg p.V133L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 133 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.V133L(2)|p.V133M(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAGCCTGGATGTGAGGGTCCC 0.582000 57 115 1.64573e-32 2.23051e-32 1 1 0 NBPF14 25832 broad.mit.edu 37 1 148016411 148016411 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:148016411G>A ENST00000369219.1 - 7 847 c.831C>T c.(829-831)ccC>ccT p.P277P Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 277 NBPF 3. cytoplasm p.P277P(2)|p.P283L(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGACTCACCTGGGACCTGTTG 0.438000 458 214 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110862504 110862504 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr13:110862504C>G ENST00000375820.4 - 9 645 c.524G>C c.(523-525)aGa>aCa p.R175T COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 175 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.R175T(2)|p.R166T(2) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGAAATCCTCTTTCACCTTT 0.453000 52 53 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98146807 98146807 + Missense_Mutation SNP G G T rs144026118 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:98146807G>T ENST00000357947.3 - 14 1980 c.1755C>A c.(1753-1755)caC>caA p.H585Q NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 585 EGF-like 1; calcium-binding (Potential). EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.H585Q(2) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGCACCCGCCGTGATCTGGCC 0.582000 78 86 6.48246e-70 9.77863e-70 1 1 0 IRS4 8471 broad.mit.edu 37 X 107977623 107977623 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:107977623C>G ENST00000372129.2 - 1 2028 c.1952G>C c.(1951-1953)gGa>gCa p.G651A NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 651 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.G651A(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TCTGAATCTTCCCCCAGACTT 0.493000 8 228 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114186033 114186033 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr8:114186033G>A ENST00000297405.5 - 4 871 c.627C>T c.(625-627)atC>atT p.I209I CSMD3_ENST00000455883.2_Silent_p.I209I|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.I209I|CSMD3_ENST00000343508.3_Silent_p.I169I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 209 Sushi 1. integral to membrane|plasma membrane p.I209I(2)|p.I169I(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 GGCCATCAAGGATGTATCCAG 0.458000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 81 301 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11047364 11047364 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:11047364A>G ENST00000379261.4 + 1 106 c.14A>G c.(13-15)aAa>aGa p.K5R CELF2_ENST00000416382.2_Missense_Mutation_p.K5R NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 5 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding p.K5R(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CGCTGTCCCAAATCCGCTGTT 0.438000 57 289 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704148 6704148 + Missense_Mutation SNP G G C rs150562113 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:6704148G>C ENST00000338694.2 - 7 1096 c.967C>G c.(967-969)Cgg>Ggg p.R323G TEKT1_ENST00000535086.1_Missense_Mutation_p.R177G NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 323 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.H322_R323>QG(1)|p.R323G(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) ACGTTCGGCCGGTGTGTCCTG 0.527000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 198 229 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 116 299 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925554 54925554 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:54925554C>A ENST00000293373.6 + 25 2805 c.2726C>A c.(2725-2727)aCc>aAc p.T909N NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T859N NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 909 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.T909N(2) 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 AAGCGCATGACCATCATTGGG 0.493000 37 102 2.46787e-29 3.27822e-29 1 1 0 AHRR 57491 broad.mit.edu 37 5 353963 353963 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:353963C>G ENST00000316418.5 + 3 237 c.193C>G c.(193-195)Ctg>Gtg p.L65V AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.L61V|AHRR_ENST00000505113.1_Missense_Mutation_p.L65V NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 65 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.L61V(2) breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CATCTCCAAGCTGGACAAGCT 0.592000 10 39 0 0 1 0 0 C10orf112 340895 broad.mit.edu 37 10 19856611 19856611 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:19856611A>T ENST00000454679.2 + 19 3757 c.3757A>T c.(3757-3759)Acc>Tcc p.T1253S C10orf112_ENST00000455457.2_Missense_Mutation_p.T81S chromosome 10 open reading frame 112 p.T1253S(1) breast(1)|lung(2) 3 CATCTCTTTTACCCCAGAGTG 0.378000 4 4 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3684492 3684492 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:3684492G>A ENST00000344754.4 - 4 952 c.953C>T c.(952-954)cCc>cTc p.P318L SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P318L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 318 Ig-like C2-type 2. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.P318L(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GAGGCTGATGGGGGGTGAGAC 0.612000 24 26 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20443793 20443793 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:20443793T>A ENST00000305051.5 + 1 191 c.116T>A c.(115-117)cTg>cAg p.L39Q NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L39Q(2) endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGTGTTGCTGGGACTGTCT 0.403000 218 315 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96506952 96506952 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:96506952T>A ENST00000283109.3 - 6 805 c.737A>T c.(736-738)gAt>gTt p.D246V CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.D246V NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 246 ATP binding|protein serine/threonine kinase activity p.D246V(4) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CTGTGGAAAATCAATCATGGT 0.318000 67 187 0 0 1 0 0 ALMS1P 200420 broad.mit.edu 37 2 73901983 73901983 + RNA SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:73901983C>G ENST00000450720.1 + 0 936 NR_003683.2 p.Q152E(2) CCTGGCTGTCCAGAAGAACAA 0.478000 57 70 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228492264 228492264 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:228492264A>G ENST00000570156.2 + 53 14337 c.14263A>G c.(14263-14265)Agg>Ggg p.R4755G OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1445G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3798 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R4380G(2)|p.R4510G(2) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACTCACGATCAGGGGTAAAGA 0.557000 55 134 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39620561 39620561 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:39620561C>A ENST00000225899.3 - 4 946 c.843G>T c.(841-843)agG>agT p.R281S NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 281 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity p.R281S(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CCTCCACGTCCCTGCGGTTGG 0.617000 23 45 1.12875e-08 1.23515e-08 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31864558 31864558 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:31864558C>A ENST00000396184.3 - 14 1533 c.1329G>T c.(1327-1329)acG>acT p.T443T PDE1C_ENST00000396193.1_Silent_p.T503T|PDE1C_ENST00000396182.2_Silent_p.T443T|PDE1C_ENST00000321453.7_Silent_p.T443T|PDE1C_ENST00000396191.1_Silent_p.T443T NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 443 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.T443T(2)|p.D444Y(2)|p.T503T(1)|p.D504Y(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CGGTCATGTCCGTAAGCACAG 0.483000 128 313 1.67419e-43 2.40327e-43 1 1 0 BNC1 646 broad.mit.edu 37 15 83926569 83926569 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:83926569G>A ENST00000345382.2 - 5 2695 c.2610C>T c.(2608-2610)agC>agT p.S870S RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.S863S NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 870 Ser-rich. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S870S(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AGGAAGAATGGCTGCTACTCT 0.572000 12 247 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537699 24537699 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:24537699C>A ENST00000264463.4 - 3 823 c.316G>T c.(316-318)Gaa>Taa p.E106* NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 106 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E106*(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCTGTTTTTTCATCAATAATA 0.388000 HNSCC(23;0.051) 8 122 0.000274275 0.000278447 1 1 0 NRK 203447 broad.mit.edu 37 X 105132286 105132286 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:105132286G>T ENST00000428173.2 + 5 555 c.e5-1 NRK_ENST00000243300.9_Splice_Site|NRK_ENST00000536164.1_Splice_Site Q7Z2Y5 NRK_HUMAN Nik related kinase ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.?(4) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TTATTCCATAGGATGAGGAAG 0.398000 HNSCC(51;0.14) 21 30 2.89027e-11 3.25612e-11 1 1 0 MED24 9862 broad.mit.edu 37 17 38192396 38192396 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:38192396G>A ENST00000394126.1 - 3 718 c.300C>T c.(298-300)taC>taT p.Y100Y MED24_ENST00000394127.2_Intron|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000501516.3_Silent_p.Y75Y|MED24_ENST00000356271.3_Intron|MED24_ENST00000394128.2_Silent_p.Y75Y O75448 MED24_HUMAN mediator complex subunit 24 75 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.Y75Y(2) autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GGACAGAAGAGTAGGACACCA 0.498000 74 185 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50946023 50946023 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:50946023G>A ENST00000374103.4 - 19 2572 c.2487C>T c.(2485-2487)cgC>cgT p.R829R OGDHL_ENST00000419399.1_Silent_p.R772R|OGDHL_ENST00000432695.1_Silent_p.R620R|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 829 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R829R(2) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGATCTGCCGGCGCAGCACGT 0.652000 58 203 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105189911 105189911 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:105189911T>C ENST00000428173.2 + 25 4413 c.4110T>C c.(4108-4110)taT>taC p.Y1370Y NRK_ENST00000243300.9_Silent_p.Y1369Y Q7Z2Y5 NRK_HUMAN Nik related kinase 1369 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.Y1369Y(2)|p.Y1370Y(2) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACATGTCCTATCAAGCCTATA 0.438000 HNSCC(51;0.14) 31 164 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414872 14414872 + RNA SNP C C T rs11088818 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr21:14414872C>T ENST00000507941.1 + 0 95 AGTAGTAACACTTCTGGTAGA 0.473000 4 104 0 0 1 0 0 CXorf40B 541578 broad.mit.edu 37 X 149101918 149101918 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:149101918C>A ENST00000370406.3 - 4 1003 c.175G>T c.(175-177)Gag>Tag p.E59* CXorf40B_ENST00000355203.2_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000462691.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000370404.1_Nonsense_Mutation_p.E59* Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 59 p.E59*(2) endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCGAGTCTCTCCACCAGCAGC 0.577000 37 132 9.62906e-15 1.14265e-14 1 1 0 OPN5 221391 broad.mit.edu 37 6 47775990 47775990 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:47775990A>T ENST00000489301.2 + 5 942 c.857A>T c.(856-858)cAg>cTg p.Q286L OPN5_ENST00000393699.2_Missense_Mutation_p.Q286L|OPN5_ENST00000371211.2_Missense_Mutation_p.Q286L|OPN5_ENST00000244799.4_3'UTR Q6U736 OPN5_HUMAN opsin 5 286 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.Q286L(2) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 ATTCCCATACAGCTCTCTGTG 0.458000 117 231 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28424343 28424343 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:28424343T>C ENST00000261609.7 - 58 9072 c.8964A>G c.(8962-8964)acA>acG p.T2988T NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2988 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T2988T(2) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCTGACAGTGTCTCAGAGA 0.294000 38 38 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56443508 56443508 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:56443508C>A ENST00000588751.1 - 1 194 c.170G>T c.(169-171)tGg>tTg p.W57L NLRP13_ENST00000342929.3_Missense_Mutation_p.W57L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 57 DAPIN. ATP binding p.W57L(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAGTTTGCCCAGGGGATACG 0.547000 78 66 4.02712e-25 5.1944e-25 1 1 0 STAG3L4 64940 broad.mit.edu 37 7 66774598 66774598 + RNA SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:66774598C>T ENST00000416602.2 + 0 615 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CCAACTGAGTCTGCACGAAGA 0.483000 6 182 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202609145 202609145 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:202609145T>C ENST00000264276.6 - 10 2378 c.2006A>G c.(2005-2007)tAt>tGt p.Y669C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 669 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity p.Y669C(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TCTGCTTATATATCCAAGCTG 0.353000 81 43 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20177828 20177828 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:20177828G>T ENST00000524983.2 - 4 1252 c.964C>A c.(964-966)Cct>Act p.P322T DBX1_ENST00000227256.3_Missense_Mutation_p.P361T A6NMT0 DBX1_HUMAN developing brain homeobox 1 322 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P361T(2) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 AAGTCCGAAGGTTTCCCGGGA 0.652000 23 46 2.27731e-05 2.37516e-05 1 1 0 GOLIM4 27333 broad.mit.edu 37 3 167728078 167728078 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:167728078T>C ENST00000470487.1 - 16 2759 c.2070A>G c.(2068-2070)tcA>tcG p.S690S GOLIM4_ENST00000309027.4_Silent_p.S662S NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 690 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus p.S690S(2) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTCGATGTGATTTCTCAG 0.493000 113 347 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151664369 151664369 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:151664369C>A ENST00000392800.2 + 2 292 c.38C>A c.(37-39)tCc>tAc p.S13Y GALNTL5_ENST00000431418.2_Missense_Mutation_p.S13Y NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 13 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.S13Y(2) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTCTATGGGTCCTTGACATTT 0.383000 21 79 2.48779e-11 2.81458e-11 1 1 0 ASPM 259266 broad.mit.edu 37 1 197104226 197104226 + Splice_Site SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:197104226C>A ENST00000367409.4 - 5 2429 c.2173_splice c.e5+1 p.V725_splice ASPM_ENST00000294732.7_Splice_Site_p.V725_splice|ASPM_ENST00000367408.1_5'UTR NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 725 mitosis cytoplasm|nucleus calmodulin binding p.V725L(2) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TAACGTTTACCTTCAGAAATA 0.269000 11 17 3.86212e-05 3.98141e-05 1 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17698743 17698743 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:17698743T>C ENST00000399080.2 - 1 963 c.940A>G c.(940-942)Aaa>Gaa p.K314E NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 314 p.K314E(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACAGTTTTTTTATCATTCTGT 0.328000 7 99 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168098448 168098448 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:168098448G>T ENST00000519560.1 - 34 4301 c.3882C>A c.(3880-3882)ggC>ggA p.G1294G SLIT3_ENST00000332966.8_Silent_p.G1301G|SLIT3_ENST00000404867.3_Silent_p.G1294G NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1294 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.G1294G(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCGGTCCGTGCCCTGGCGCA 0.672000 28 13 1.96642e-18 2.40841e-18 1 1 0 ASPA 443 broad.mit.edu 37 17 3385072 3385072 + Nonsense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:3385072C>T ENST00000263080.2 + 2 570 c.412C>T c.(412-414)Cag>Tag p.Q138* ASPA_ENST00000456349.2_Nonsense_Mutation_p.Q138*|SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 138 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding p.Q138*(2) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) CTTTTTAATTCAGATGTTTCA 0.318000 5 19 0 0 1 0 0 QPRT 23475 broad.mit.edu 37 16 29708623 29708623 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:29708623C>A ENST00000395384.4 + 4 946 c.785C>A c.(784-786)cCg>cAg p.P262Q QPRT_ENST00000562473.1_Missense_Mutation_p.P114Q|QPRT_ENST00000219771.7_3'UTR NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 262 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity p.P262Q(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) TTCTGCGGGCCGCACATAGAC 0.632000 23 19 7.87624e-14 9.10371e-14 1 1 0 LAX1 54900 broad.mit.edu 37 1 203743633 203743633 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:203743633G>T ENST00000442561.2 + 5 1411 c.1021G>T c.(1021-1023)Gct>Tct p.A341S LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A325S NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 341 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding p.A341S(2) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GACATTCCTTGCTTCAGGGGA 0.468000 82 169 1.59803e-59 2.3704e-59 1 1 0 SLC7A11 23657 broad.mit.edu 37 4 139100436 139100436 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:139100436C>A ENST00000280612.5 - 11 1658 c.1379G>T c.(1378-1380)gGa>gTa p.G460V NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 460 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding p.G460V(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) CGCAGGGACTCCAGTCAGAGT 0.423000 39 83 4.01765e-15 4.7889e-15 1 1 0 ANKS1B 56899 broad.mit.edu 37 12 99837534 99837534 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:99837534T>G ENST00000547776.2 - 11 1491 c.1492A>C c.(1492-1494)Agc>Cgc p.S498R ANKS1B_ENST00000547010.1_Missense_Mutation_p.S78R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S498R NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 498 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane p.S498R(2) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCTGTTGAGCTGTTTCTATGG 0.438000 107 223 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81187704 81187704 + RNA SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:81187704G>C ENST00000525539.1 - 0 4267 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.P1423R(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAGGTGGTGGGGCTCTCTCTC 0.602000 6 8 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149131 52149131 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:52149131G>T ENST00000360844.6 - 3 645 c.604C>A c.(604-606)Ccc>Acc p.P202T SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 202 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.P202T(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TCGGGCCTGGGGGTGAGGGTG 0.627000 64 40 2.10938e-32 2.84447e-32 1 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227218999 227218999 + Splice_Site SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:227218999C>G ENST00000366769.3 - 27 4961 c.3670_splice c.e27+1 p.D1224_splice CDC42BPA_ENST00000334218.5_Splice_Site_p.D1224_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.D1237_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.D1259_splice|CDC42BPA_ENST00000366764.2_Splice_Site_p.D1196_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.D1204_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.D1143_splice NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1237 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.D1224H(2)|p.D1143H(2)|p.D1259H(2) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AAATTCATACCTATGATTGCG 0.388000 46 92 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63009375 63009375 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:63009375C>G ENST00000251157.5 - 24 2934 c.2901G>C c.(2899-2901)gaG>gaC p.E967D DOCK7_ENST00000340370.5_Missense_Mutation_p.E936D NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 967 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.E936D(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 AACTTGACGTCTCTGTGTGCG 0.373000 5 171 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119727780 119727780 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:119727780T>A ENST00000541757.1 + 4 436 c.56T>A c.(55-57)cTg>cAg p.L19Q MARCO_ENST00000327097.4_Missense_Mutation_p.L97Q Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 97 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.L97Q(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TTCTCCTTGCTGCAGTCAGCA 0.617000 153 71 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38145111 38145111 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:38145111T>C ENST00000378505.2 - 15 3317 c.3141A>G c.(3139-3141)gaA>gaG p.E1047E RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 836 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding p.E1047E(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 ccccctccttttccctttctt 0.537000 5 12 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12905653 12905653 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:12905653A>T ENST00000380659.3 + 3 2165 c.2026A>T c.(2026-2028)Aat>Tat p.N676Y NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 676 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity p.N676Y(1) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TATGCCTCCAAATCTAAAGAA 0.373000 10 349 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91667886 91667886 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:91667886A>G ENST00000359028.2 + 18 4753 c.4528A>G c.(4528-4530)Att>Gtt p.I1510V AKAP9_ENST00000356239.3_Missense_Mutation_p.I1498V|AKAP9_ENST00000358100.2_Missense_Mutation_p.I1510V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1510 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.I1510V(2)|p.I1498V(2) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAGGATCAAATTGGTTTTCA 0.323000 T BRAF papillary thyroid 35 63 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799160 212799160 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:212799160G>T ENST00000294829.3 + 1 1372 c.941G>T c.(940-942)gGg>gTg p.G314V RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 314 Ala-rich. p.G314V(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GCCATAGCTGGGGCGGCCACC 0.642000 16 37 7.87624e-14 9.10371e-14 1 1 0 OR14A16 284532 broad.mit.edu 37 1 247978341 247978341 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:247978341C>T ENST00000357627.1 - 1 690 c.691G>A c.(691-693)Ggc>Agc p.G231S NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G231S(2) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TTTGACTGGCCTTCTGTGGAA 0.413000 105 211 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133256576 133256576 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:133256576T>C ENST00000320574.5 - 5 430 c.387A>G c.(385-387)gcA>gcG p.A129A POLE_ENST00000535270.1_Silent_p.A102A NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 129 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.A129A(4) 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) TCTCCACTTTTGCAATTTTGC 0.448000 DNA polymerases (catalytic subunits) 31 50 0 0 1 0 0 FAM86HP 729375 broad.mit.edu 37 3 129821625 129821625 + RNA SNP C C G rs2976118 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:129821625C>G ENST00000500074.2 - 0 520 GTGGTGAACACCTGGCACGTC 0.667000 6 73 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357646 118357646 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:118357646C>T ENST00000528052.1 + 8 853 c.782C>T c.(781-783)tCt>tTt p.S261F PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S261F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S261F P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 261 lipid metabolic process calcium ion binding|triglyceride lipase activity p.S261F(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AATGCCCTGTCTCAGATCGTG 0.527000 16 37 0 0 1 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239890 135239890 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:135239890G>A ENST00000265605.2 - 7 1195 c.1127C>T c.(1126-1128)aCg>aTg p.T376M ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T322M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T326M NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 376 retinal metabolic process cytoplasm retinal dehydrogenase activity p.T376M(4) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TGTTATCACCGTGGGAAGCAT 0.502000 27 110 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433035 55433035 + Silent SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:55433035G>C ENST00000314259.3 + 1 422 c.393G>C c.(391-393)acG>acC p.T131T NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T131T(2) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGCACTACACGATCATCATGA 0.512000 74 184 0 0 1 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51279140 51279140 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:51279140G>A ENST00000551456.1 + 4 809 c.764G>A c.(763-765)gGt>gAt p.G255D TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G255D Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 255 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity p.G255D(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 TTTTGTGCAGGTGATGAAGAT 0.363000 269 480 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048560 6048560 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:6048560C>A ENST00000316650.5 - 1 411 c.375G>T c.(373-375)atG>atT p.M125I NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M125I(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTCATAGGCCATGACCATAA 0.502000 175 328 7.30274e-78 1.12059e-77 1 1 0 GHRHR 2692 broad.mit.edu 37 7 31013682 31013682 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:31013682T>A ENST00000409904.3 + 4 746 c.488T>A c.(487-489)cTg>cAg p.L163Q GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Missense_Mutation_p.L227Q Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 227 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding p.L227Q(2) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GCCGTCTACCTGAACTGCCTC 0.632000 19 47 0 0 1 0 0 FIZ1 84922 broad.mit.edu 37 19 56109048 56109048 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:56109048G>A ENST00000221665.3 - 2 273 c.184C>T c.(184-186)Cac>Tac p.H62Y FIZ1_ENST00000592585.1_Intron NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding p.H62Y(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TTGAAGCTGTGCTTGAAACCC 0.677000 5 58 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161976113 161976113 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:161976113C>A ENST00000294794.3 - 4 1120 c.697G>T c.(697-699)Gca>Tca p.A233S OLFML2B_ENST00000367940.2_Missense_Mutation_p.A233S NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 233 Poly-Ala. p.A233S(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTGCTGCTGCATCCCTCTGC 0.527000 51 130 1.80625e-27 2.35254e-27 1 1 0 LINC00842 643650 broad.mit.edu 37 10 47133423 47133423 + RNA SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:47133423T>A ENST00000422732.2 - 0 435 NR_033957.1 TAGGCCTCCATTGCCACAGGG 0.453000 32 188 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144805 25144805 + RNA SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr13:25144805C>A ENST00000453498.1 + 0 346 GGGTCCTGGTCCTGCCATGGG 0.463000 20 101 1.22384e-17 1.48529e-17 1 1 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 41 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20167606 20167606 + Splice_Site SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:20167606G>T ENST00000263754.4 + 10 2077 c.e10+1 NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding p.?(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TCTTTGACCCGTAAGTGGTAC 0.448000 3 8 0.004672 0.00472509 1 1 0 GPR142 350383 broad.mit.edu 37 17 72368476 72368476 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:72368476G>C ENST00000335666.4 + 4 1174 c.1126G>C c.(1126-1128)Gtc>Ctc p.V376L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 376 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.V376L(2)|p.V376I(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCGGGTCTTCGTCATGCTCTA 0.662000 26 59 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102508881 102508881 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:102508881A>G ENST00000321521.9 + 20 2882 c.2309A>G c.(2308-2310)gAa>gGa p.E770G PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E770G|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E770G|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 770 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.E770G(2) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACTAAAGCTGAAAAACTGGAG 0.338000 62 29 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 44 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686420 108686420 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:108686420A>G ENST00000312143.7 - 3 683 c.320T>C c.(319-321)tTc>tCc p.F107S CMKLR1_ENST00000552995.1_Missense_Mutation_p.F105S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.F105S NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 107 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.F105S(2) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GGCTGTCCCGAAAACCCAGTG 0.517000 117 285 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154060 22154060 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:22154060C>A ENST00000397126.4 - 4 3924 c.3776G>T c.(3775-3777)gGc>gTc p.G1259V ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.G1131V(4)|p.G1259V(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAGGCTTTGCCACATTCTTC 0.378000 20 71 1.15919e-05 1.21851e-05 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55129867 55129867 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:55129867C>T ENST00000257290.5 + 4 732 c.401C>T c.(400-402)aCg>aTg p.T134M FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.T134M NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 134 Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.T134M(2) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTAGGAATGACGGATTATTTA 0.408000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 94 231 0 0 1 0 0 ZNF256 10172 broad.mit.edu 37 19 58452538 58452538 + Silent SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:58452538A>T ENST00000282308.3 - 3 1834 c.1638T>A c.(1636-1638)ccT>ccA p.P546P ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 546 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P546P(2) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) TGCACTCATAAGGCCTTTCTC 0.453000 6 110 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947310 237947310 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:237947310G>A ENST00000366574.2 + 90 12615 c.12298G>A c.(12298-12300)Gtc>Atc p.V4100I RYR2_ENST00000360064.6_Missense_Mutation_p.V4106I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4084I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4100 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.V4098I(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) CAACGTCGCCGTCCTTCTGAC 0.502000 11 55 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719811 140719811 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:140719811A>G ENST00000394576.2 + 1 1273 c.1273A>G c.(1273-1275)Aaa>Gaa p.K425E PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.K425E(4) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAACCGCTAAAGATGGAGG 0.488000 46 83 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34648810 34648810 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:34648810T>C ENST00000537011.1 + 8 2983 c.2601T>C c.(2599-2601)ggT>ggC p.G867G NUTM1_ENST00000333756.4_Silent_p.G839G|NUTM1_ENST00000438749.3_Silent_p.G857G NUT midline carcinoma, family member 1 p.G839G(2) GGGCAGAAGGTTGCTTCCCAT 0.522000 22 150 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74716538 74716538 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:74716538G>A ENST00000532963.1 + 2 302 c.175G>A c.(175-177)Gag>Aag p.E59K NEU3_ENST00000529024.1_Missense_Mutation_p.E59K|NEU3_ENST00000294064.4_Silent_p.K129K|NEU3_ENST00000531509.1_Silent_p.K129K|NEU3_ENST00000544263.1_Silent_p.K96K|NEU3_ENST00000545272.1_Silent_p.K20K A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 0 p.K129K(4) kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GGGAGCAGAAGAGTGGTTGTG 0.562000 28 68 0 0 1 0 0 C7orf25 79020 broad.mit.edu 37 7 42950014 42950014 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:42950014G>A ENST00000350427.4 - 2 761 c.486C>T c.(484-486)aaC>aaT p.N162N C7orf25_ENST00000438029.1_Silent_p.N162N|C7orf25_ENST00000431882.2_Silent_p.N220N|C7orf25_ENST00000447342.1_Silent_p.N162N|PSMA2_ENST00000442788.1_3'UTR Q9BPX7 CG025_HUMAN chromosome 7 open reading frame 25 162 p.N162N(1) endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1) 17 TGATGTGAGGGTTGCTATACT 0.502000 5 94 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531939 92531939 + Nonsense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:92531939C>G ENST00000298047.6 + 9 5777 c.5760C>G c.(5758-5760)taC>taG p.Y1920* FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1920*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1770* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1920 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Y1920*(4) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AACTGACATACAGCCTAATGG 0.418000 TCGA Ovarian(4;0.039) 38 63 0 0 1 0 0 RHEBL1 121268 broad.mit.edu 37 12 49463563 49463563 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:49463563C>A ENST00000301068.6 - 1 245 c.6G>T c.(4-6)ccG>ccT p.P2P NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 2 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding p.P2P(2) breast(2)|large_intestine(2)|lung(5) 9 AGCGGACTAGCGGCATGGCAG 0.647000 10 16 7.03913e-09 7.76631e-09 1 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254445 30254445 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:30254445C>A ENST00000361644.2 + 5 1141 c.404C>A c.(403-405)gCa>gAa p.A135E MAGEB3_ENST00000378986.1_Missense_Mutation_p.A135E NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 135 MAGE. p.A135E(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 ATTATGAAAGCAGATATGCTA 0.383000 67 119 5.02462e-34 6.91533e-34 1 1 0 EMR1 2015 broad.mit.edu 37 19 6935052 6935052 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:6935052A>T ENST00000312053.4 + 18 2381 c.2344A>T c.(2344-2346)Agt>Tgt p.S782C EMR1_ENST00000381404.4_Missense_Mutation_p.S763C|EMR1_ENST00000381407.5_Missense_Mutation_p.S641C|EMR1_ENST00000450315.3_Missense_Mutation_p.S605C|EMR1_ENST00000250572.8_Missense_Mutation_p.S717C NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 782 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.S782C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GAGGCTTTCCAGTGTTAATGC 0.468000 70 235 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44781901 44781901 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:44781901G>C ENST00000266534.3 + 8 1118 c.991G>C c.(991-993)Ggg>Cgg p.G331R TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R|TMEM117_ENST00000546978.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 331 endoplasmic reticulum|integral to membrane p.G331R(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TCATGAATATGGGCAATATAT 0.368000 21 48 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69034512 69034512 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:69034512G>T ENST00000295381.3 + 5 990 c.571G>T c.(571-573)Ggc>Tgc p.G191C ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192C NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 191 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.G185C(2)|p.G192C(2) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CCTGGAGCACGGCCGGAATGA 0.582000 236 314 1.27626e-126 1.98117e-126 1 1 0 RMND5A 64795 broad.mit.edu 37 2 86997154 86997154 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:86997154C>G ENST00000283632.4 + 7 1358 c.863C>G c.(862-864)gCa>gGa p.A288G RMND5A_ENST00000472843.1_3'UTR NM_022780.3 NP_073617.1 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog A (S. cerevisiae) 288 p.A288G(2) kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 AGTTTCTCAGCAGGTTGTGTG 0.502000 127 234 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262398 158262398 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:158262398C>A ENST00000368170.3 + 4 902 c.623C>A c.(622-624)gCc>gAc p.A208D NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 208 Ig-like. 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 p.A208D(2) 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) AGGCCAGAAGCCTGGCTGTCC 0.512000 92 237 1.81242e-41 2.57402e-41 1 1 0 ALS2 57679 broad.mit.edu 37 2 202593271 202593271 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:202593271C>A ENST00000264276.6 - 15 3177 c.2805G>T c.(2803-2805)tgG>tgT p.W935C ALS2_ENST00000457679.2_Missense_Mutation_p.W247C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 935 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity p.W935C(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AGAGAATGAACCAATTCACGG 0.483000 100 54 3.01496e-42 4.30478e-42 1 1 0 CPS1 1373 broad.mit.edu 37 2 211473091 211473091 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:211473091A>G ENST00000233072.5 + 19 2395 c.2199A>G c.(2197-2199)ccA>ccG p.P733P CPS1_ENST00000430249.2_Silent_p.P739P|CPS1_ENST00000451903.2_Silent_p.P282P NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 733 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.P739P(2)|p.P733P(2) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATAGCTACCCATTGGCATTCA 0.363000 201 89 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10910395 10910395 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr21:10910395A>T ENST00000298232.7 - 21 1674 c.1307T>A c.(1306-1308)cTt>cAt p.L436H TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L454H|TPTE_ENST00000342420.5_Missense_Mutation_p.L416H NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 454 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L436H(2)|p.L454H(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AATGTTATCAAGTACCTATGA 0.323000 65 271 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5411400 5411400 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:5411400T>A ENST00000328611.3 + 1 794 c.772T>A c.(772-774)Tgt>Agt p.C258S AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 258 integral to membrane olfactory receptor activity p.C258S(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGCTCCTCTCTGTGCTGTGCT 0.562000 29 465 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701585 23701585 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr9:23701585C>A ENST00000397312.2 - 5 779 c.505G>T c.(505-507)Ggg>Tgg p.G169W ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198W NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 169 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.G169W(2) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CGAATAAACCCTACACCCCTT 0.433000 106 121 1.14276e-43 1.64929e-43 1 1 0 MUC17 140453 broad.mit.edu 37 7 100681561 100681561 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:100681561C>G ENST00000306151.4 + 3 6928 c.6864C>G c.(6862-6864)caC>caG p.H2288Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2288 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.H2288Q(2) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTCAGCCACACGCTGGTGG 0.478000 140 243 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52761049 52761049 + Silent SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:52761049C>T ENST00000257901.3 - 1 216 c.141G>A c.(139-141)ggG>ggA p.G47G NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 47 Head. epidermis development keratin filament protein binding|structural molecule activity p.G47G(2) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCCGTCAGCCCTCGGTAGC 0.682000 6 18 0 0 1 0 0 AVPR2 554 broad.mit.edu 37 X 153171455 153171455 + Silent SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:153171455C>A ENST00000358927.2 + 3 704 c.495C>A c.(493-495)gcC>gcA p.A165A AVPR2_ENST00000370049.1_Silent_p.A165A|AVPR2_ENST00000337474.5_Silent_p.A165A P30518 V2R_HUMAN arginine vasopressin receptor 2 165 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity p.A165A(2)|p.L168fs*41(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TGGCTTGGGCCTTCTCGCTCC 0.662000 18 23 1.33834e-09 1.4889e-09 1 1 0 GPR50 9248 broad.mit.edu 37 X 150349744 150349744 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:150349744G>A ENST00000218316.3 + 2 1758 c.1689G>A c.(1687-1689)tcG>tcA p.S563S NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 563 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity p.S563S(1) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TCCCTGAGTCGGCCTCTAGCC 0.622000 6 243 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219920175 219920175 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:219920175G>A ENST00000295731.5 - 3 989 c.990C>T c.(988-990)gcC>gcT p.A330A NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 330 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity p.A330A(2) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGAGCGGGGCGTAGGCCC 0.682000 12 3 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65077169 65077169 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:65077169A>G ENST00000380985.5 + 6 921 c.743A>G c.(742-744)tAt>tGt p.Y248C NLN_ENST00000502464.1_Missense_Mutation_p.Y144C NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 248 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity p.Y248C(2) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TATCCACACTATTTCCCTGTC 0.328000 58 60 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17643134 17643134 + Silent SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:17643134G>T ENST00000335393.4 + 4 480 c.342G>T c.(340-342)cgG>cgT p.R114R FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599124.1_Silent_p.R83R|FAM129C_ENST00000300971.2_Silent_p.R114R|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000601861.1_Silent_p.R83R|FAM129C_ENST00000595684.1_Silent_p.R114R|FAM129C_ENST00000352727.3_Silent_p.R114R|FAM129C_ENST00000600871.1_Silent_p.R60R|FAM129C_ENST00000332386.5_Silent_p.R114R|FAM129C_ENST00000599164.1_Silent_p.R83R NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 114 p.R114R(4) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 ACCCACCCCGGTGGCAGCCGA 0.647000 10 16 5.50884e-06 5.81367e-06 1 1 0 GRAMD1A 57655 broad.mit.edu 37 19 35500129 35500129 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:35500129A>G ENST00000599564.1 + 3 447 c.376A>G c.(376-378)Acc>Gcc p.T126A GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T39A|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000598073.1_3'UTR Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 39 GRAM. integral to membrane p.T39A(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGAACCAGGCACCATGGTGGA 0.662000 17 16 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173255 5173255 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:5173255G>A ENST00000380367.1 - 2 762 c.345C>T c.(343-345)ggC>ggT p.G115G OR52A1_ENST00000328942.1_Silent_p.G115G Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 115 sensory perception of smell integral to plasma membrane olfactory receptor activity p.G115G(2) breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACAAGGATGCCTGACTCTA 0.448000 30 48 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48726111 48726111 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:48726111G>A ENST00000328631.5 - 6 1099 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 292 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.F292F(4) biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CATTGTGGAAGAACTGGAAAA 0.562000 12 72 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43907004 43907004 + Silent SNP T T C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:43907004T>C ENST00000562955.1 + 52 7293 c.7293T>C c.(7291-7293)ggT>ggC p.G2431G SZT2_ENST00000372442.1_Silent_p.G1589G NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2488 peroxisome p.G1589G(4)|p.G2431G(2) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGACTCCTGGTGGAGCTGAGC 0.572000 56 22 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76060929 76060929 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:76060929G>A ENST00000335749.4 + 4 3082 c.2513G>A c.(2512-2514)gGc>gAc p.G838D TNRC6C_ENST00000588061.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G841D NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 841 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding p.G841D(2)|p.G838D(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CCCAGCAGTGGCAGCGGGTGG 0.587000 15 140 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016506 23016506 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:23016506A>T ENST00000255008.3 + 1 450 c.386A>T c.(385-387)aAc>aTc p.N129I RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 129 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.N129I(2) 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) GACGGCCTCAACATGTTCACC 0.701000 40 18 0 0 1 0 0 CXorf61 203413 broad.mit.edu 37 X 115593061 115593061 + Silent SNP A A G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:115593061A>G ENST00000371894.4 - 2 335 c.189T>C c.(187-189)tcT>tcC p.S63S NM_001017978.2 NP_001017978.1 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 63 integral to membrane|plasma membrane p.S63S(3) breast(1)|large_intestine(3)|lung(8) 12 AAATATCCCGAGAGAGGTCGT 0.403000 171 483 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54742922 54742922 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:54742922C>A ENST00000396365.2 - 8 1392 c.1353G>T c.(1351-1353)atG>atT p.M451I LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.M434I|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron NM_024318.2 NP_077294.2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 p.M451I(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGCCATGCCCATGCGGATGA 0.577000 31 22 6.21074e-16 7.43618e-16 1 1 0 WRAP53 55135 broad.mit.edu 37 17 7592605 7592605 + Silent SNP C C T rs147817526 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:7592605C>T ENST00000316024.5 + 2 2843 c.495C>T c.(493-495)agC>agT p.S165S WRAP53_ENST00000431639.2_Silent_p.S165S|WRAP53_ENST00000534050.1_Intron|WRAP53_ENST00000396463.2_Silent_p.S165S|WRAP53_ENST00000457584.2_Silent_p.S165S Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 165 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding p.S165S(2) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 CAGAGTTCAGCACCCAACCTG 0.517000 14 28 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98449098 98449098 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:98449098C>T ENST00000450876.1 - 6 2015 c.700G>A c.(700-702)Gag>Aag p.E234K TMEM130_ENST00000546258.1_Missense_Mutation_p.E299K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E216K|TMEM130_ENST00000339375.4_Missense_Mutation_p.E318K|TMEM130_ENST00000416379.2_Missense_Mutation_p.E318K Q8N3G9 TM130_HUMAN transmembrane protein 130 318 Golgi membrane|integral to membrane p.E318K(2) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATGATATTCTCGGCCCGGATG 0.592000 109 165 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181480554 181480554 + Silent SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:181480554G>A ENST00000526775.1 + 3 585 c.420G>A c.(418-420)ggG>ggA p.G140G CACNA1E_ENST00000367573.2_Silent_p.G140G|CACNA1E_ENST00000358338.5_Silent_p.G91G|CACNA1E_ENST00000367570.1_Silent_p.G140G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.G140G|CACNA1E_ENST00000357570.5_Silent_p.G91G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 140 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.G140G(4) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGAAGCTGGGATCAAAATTG 0.493000 140 346 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59469394 59469394 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:59469394G>A ENST00000588462.1 + 25 2761 c.2761G>A c.(2761-2763)Ggc>Agc p.G921S BCAS3_ENST00000407086.3_Missense_Mutation_p.G884S|BCAS3_ENST00000588874.1_Missense_Mutation_p.G655S|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000390652.5_Missense_Mutation_p.G899S|BCAS3_ENST00000408905.3_Missense_Mutation_p.G906S|BCAS3_ENST00000585744.1_Missense_Mutation_p.G670S|BCAS3_ENST00000589222.1_3'UTR Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 899 nucleus p.G899S(1) NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CTCCACCAGCGGCAGCATACC 0.582000 5 15 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171257993 171257993 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:171257993G>T ENST00000334231.6 + 18 1948 c.1948G>T c.(1948-1950)Gcc>Tcc p.A650S MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A641S|MYO3B_ENST00000409044.3_Missense_Mutation_p.A641S Q8WXR4 MYO3B_HUMAN myosin IIIB 641 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity p.A641S(4) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTTTCAGCTGCCTCTGTTCT 0.502000 120 71 7.68471e-68 1.15271e-67 1 1 0 TNR 7143 broad.mit.edu 37 1 175331945 175331945 + Splice_Site SNP A A C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:175331945A>C ENST00000367674.1 - 14 3416 c.2707_splice c.e14-1 p.V903_splice TNR_ENST00000263525.2_Splice_Site_p.V903_splice NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 903 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.V903G(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TAGTCGTCCCACTGGAGAAGA 0.488000 112 251 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:7578469C>A ENST00000420246.2 - 5 593 c.461G>T c.(460-462)gGc>gTc p.G154V TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 154 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and 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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(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) GACGCGGGTGCCGGGCGGGGG 0.607000 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) 65 44 4.38691e-48 6.40057e-48 1 1 0 DSC2 1824 broad.mit.edu 37 18 28663009 28663009 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr18:28663009C>A ENST00000280904.6 - 8 1403 c.960G>T c.(958-960)caG>caT p.Q320H DSC2_ENST00000251081.6_Missense_Mutation_p.Q320H NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 320 Cadherin 2. homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.Q320H(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTATTTTCAACTGGTACTTGT 0.299000 11 59 0.00010058 0.000102499 1 1 0 TENM2 57451 broad.mit.edu 37 5 167489067 167489067 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:167489067C>A ENST00000519204.1 + 6 1067 c.949C>A c.(949-951)Ccc>Acc p.P317T TENM2_ENST00000520394.1_Missense_Mutation_p.P206T|TENM2_ENST00000545108.1_Missense_Mutation_p.P438T|TENM2_ENST00000518659.1_Missense_Mutation_p.P438T|TENM2_ENST00000403607.2_Missense_Mutation_p.P271T teneurin transmembrane protein 2 p.P271T(1)|p.P317T(1)|p.P438T(1) TTTTTCAGTGCCCTGGTCGTT 0.408000 9 35 1.08611e-07 1.15618e-07 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31273080 31273080 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:31273080G>T ENST00000544665.3 + 2 167 c.96G>T c.(94-96)agG>agT p.R32S ITGAM_ENST00000287497.8_Missense_Mutation_p.R32S NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 32 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.R32S(2) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGAACGCAAGGGGCTTCGGGC 0.517000 16 39 2.94398e-08 3.1594e-08 1 1 0 KIAA1109 84162 broad.mit.edu 37 4 123229169 123229169 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:123229169C>A ENST00000264501.4 + 58 10280 c.9907C>A c.(9907-9909)Cat>Aat p.H3303N KIAA1109_ENST00000455637.1_Missense_Mutation_p.H3303N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H3303N Q2LD37 K1109_HUMAN KIAA1109 3303 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.H3303N(2) 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 AATGGCTTTACATAAGGATAT 0.413000 56 129 2.19297e-23 2.88031e-23 1 1 0 NFATC2 4773 broad.mit.edu 37 20 50092041 50092041 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:50092041T>C ENST00000371564.3 - 4 1708 c.1489A>G c.(1489-1491)Aaa>Gaa p.K497E NFATC2_ENST00000414705.1_Missense_Mutation_p.K477E|NFATC2_ENST00000396009.3_Missense_Mutation_p.K497E NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 497 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.K497E(2) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCCAGGACTTTGGTGTTGCCC 0.572000 118 125 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140380905 140380905 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:140380905G>C ENST00000072869.4 + 4 1451 c.1273G>C c.(1273-1275)Gca>Cca p.A425P ADCK2_ENST00000476491.1_Missense_Mutation_p.A425P NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 425 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity p.A425P(2) cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) AAGGAAGATTGCACGGCTGGG 0.567000 25 63 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154158393 154158393 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:154158393G>T ENST00000360256.4 - 14 3872 c.3672C>A c.(3670-3672)atC>atA p.I1224I NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1224 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.I1224I(4) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATTCTCTTGGATTAATGTTT 0.313000 13 38 2.27111e-07 2.40792e-07 1 1 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 10 124 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156845459 156845459 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:156845459G>T ENST00000368196.3 + 11 1603 c.e11+1 NTRK1_ENST00000524377.1_Splice_Site|NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.?(4) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGTGATGCCTGTGAGGGGCTA 0.577000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 43 93 2.68985e-26 3.64164e-26 1 1 0 AKR1B15 441282 broad.mit.edu 37 7 134261164 134261164 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:134261164C>A ENST00000457545.2 + 9 1067 c.807C>A c.(805-807)caC>caA p.H269Q AKR1B15_ENST00000423958.1_Missense_Mutation_p.H241Q NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 269 oxidoreductase activity p.H269Q(2)|p.H241Q(2)|p.H287Q(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CTGCAAAGCACAAAAAAACCA 0.443000 15 76 0.00244969 0.00249699 1 1 0 C3orf27 23434 broad.mit.edu 37 3 128292256 128292256 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:128292256T>C ENST00000356020.2 - 3 1283 c.317A>G c.(316-318)cAc>cGc p.H106R NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 106 p.H106R(2) large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) AGGCCCACAGTGGCACAGCAG 0.577000 73 144 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695897 64695897 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:64695897G>T ENST00000164133.2 + 6 1344 c.722_splice c.e6+1 p.R241_splice NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 241 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.R241L(2) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 ATCTTCCTCCGGTGAGTGGCT 0.607000 61 124 1.53276e-45 2.3526e-45 1 1 0 FAT3 120114 broad.mit.edu 37 11 92623916 92623916 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:92623916C>A ENST00000298047.6 + 27 13424 c.13407C>A c.(13405-13407)tcC>tcA p.S4469S FAT3_ENST00000533797.1_Silent_p.S772S|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Silent_p.S4319S|FAT3_ENST00000409404.2_Silent_p.S4437S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4469 Pro-rich. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.S1044S(2)|p.S4437S(2)|p.S4469S(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGCCACCCTCCCAGCCTGTCT 0.592000 TCGA Ovarian(4;0.039) 18 32 2.35188e-11 2.63092e-11 1 1 0 SH3PXD2A 9644 broad.mit.edu 37 10 105361828 105361828 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:105361828C>G ENST00000369774.4 - 15 3423 c.3147G>C c.(3145-3147)caG>caC p.Q1049H SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q884H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q916H|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q1021H|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 1049 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding p.Q1021H(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TGCTGTTGCGCTGGGCGGGCA 0.622000 128 160 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110496262 110496262 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:110496262A>G ENST00000324068.1 - 4 647 c.480T>C c.(478-480)aaT>aaC p.N160N CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 160 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding p.N160N(2) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCAGCAGAGCATTCCAAAACT 0.428000 47 115 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10382279 10382279 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:10382279G>A ENST00000397077.1 - 19 3467 c.2892C>T c.(2890-2892)aaC>aaT p.N964N ATP2B2_ENST00000352432.4_Silent_p.N1009N|ATP2B2_ENST00000383800.4_Silent_p.N964N|ATP2B2_ENST00000360273.2_Silent_p.N1009N|ATP2B2_ENST00000343816.4_Silent_p.N995N Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1009 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding p.N1009N(2)|p.N964N(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGTTGATCTCGTTGAAGAGCT 0.562000 44 175 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150057694 150057694 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:150057694T>C ENST00000340413.2 - 6 779 c.703A>G c.(703-705)Act>Gct p.T235A NUP43_ENST00000460354.2_Missense_Mutation_p.T235A|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Intron NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 235 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.T235A(2) 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) TGGCCACCAGTAGCTACAACA 0.438000 27 101 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76060929 76060929 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:76060929G>A ENST00000335749.4 + 4 3082 c.2513G>A c.(2512-2514)gGc>gAc p.G838D TNRC6C_ENST00000544502.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G841D NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 841 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding p.G841D(2)|p.G838D(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CCCAGCAGTGGCAGCGGGTGG 0.587000 30 209 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112018498 112018498 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr9:112018498C>A ENST00000374566.3 - 9 1364 c.847G>T c.(847-849)Gat>Tat p.D283Y EPB41L4B_ENST00000374557.4_Missense_Mutation_p.D283Y NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 283 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton p.D283Y(4) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCACAGCCATCTCTTCCCTAC 0.398000 36 82 1.0096e-33 1.43298e-33 1 1 0 TTN 7273 broad.mit.edu 37 2 179472803 179472803 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:179472803G>A ENST00000589042.1 - 276 52935 c.52711C>T c.(52711-52713)Cct>Tct p.P17571S TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15003S|TTN_ENST00000342175.6_Missense_Mutation_p.P8698S|TTN_ENST00000359218.5_Missense_Mutation_p.P8631S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15930S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8506S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15930 Fibronectin type-III 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) GGTGGCCCAGGAGGAGCTAGA 0.423000 3 36 0 0 1 0 0 QPRT 23475 broad.mit.edu 37 16 29708623 29708623 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:29708623C>A ENST00000395384.4 + 4 946 c.785C>A c.(784-786)cCg>cAg p.P262Q QPRT_ENST00000562473.1_Missense_Mutation_p.P114Q|QPRT_ENST00000219771.7_3'UTR NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 262 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity p.P262Q(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) TTCTGCGGGCCGCACATAGAC 0.632000 82 84 6.04451e-25 8.01885e-25 1 1 0 THBS2 7058 broad.mit.edu 37 6 169623382 169623382 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:169623382G>T ENST00000366787.3 - 19 3211 c.2962C>A c.(2962-2964)Ctg>Atg p.L988M XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 988 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.L988M(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) GTCTGAACCAGCTCCTTGCCT 0.582000 49 124 7.77092e-38 1.15254e-37 1 1 0 AGMO 392636 broad.mit.edu 37 7 15601381 15601381 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:15601381G>C ENST00000342526.3 - 1 259 c.90C>G c.(88-90)ttC>ttG p.F30L NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 30 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding p.F30L(2) breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CTAATGTTTGGAATGAAGTTT 0.403000 29 75 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811180 5811180 + Missense_Mutation SNP C C G rs4017999 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:5811180C>G ENST00000381095.3 - 6 2756 c.2129G>C c.(2128-2130)cGc>cCc p.R710P NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730P NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 710 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.R710P(2) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGGACTGGGGCGCCTGTGAGT 0.532000 50 141 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104709469 104709469 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr8:104709469G>C ENST00000406091.3 + 2 332 c.332G>C c.(331-333)tGc>tCc p.C111S NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 142 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.C111S(2)|p.C147S(2) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGTTCATATTGCCAAACAAAG 0.423000 HNSCC(12;0.0054) 50 219 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899874 151899874 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:151899874A>G ENST00000393900.3 - 3 1280 c.927T>C c.(925-927)ttT>ttC p.F309F CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.F309F|MAGEA12_ENST00000393869.3_Silent_p.F309F NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 309 p.F309F(2) breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCCCCTCTCTAAAAGCCCATT 0.557000 131 282 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72038818 72038818 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:72038818T>A ENST00000378743.3 - 4 1476 c.1118A>T c.(1117-1119)cAg>cTg p.Q373L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 373 RNA processing intracellular metal ion binding p.Q373L(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AAGGCGAAGCTGTAATTCAGA 0.333000 11 37 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35913820 35913820 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:35913820C>T ENST00000339208.6 - 14 2145 c.2005G>A c.(2005-2007)Gat>Aat p.D669N SYNRG_ENST00000591288.1_Missense_Mutation_p.D508N|SYNRG_ENST00000502449.2_Missense_Mutation_p.D591N|SYNRG_ENST00000345615.4_Missense_Mutation_p.D591N|SYNRG_ENST00000394378.2_Missense_Mutation_p.D591N|SYNRG_ENST00000346661.4_Missense_Mutation_p.D669N|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.D590N NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 669 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCTCCAAAATCATCAGCCAAA 0.413000 7 125 0 0 1 0 0 TIFAB 497189 broad.mit.edu 37 5 134785501 134785501 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:134785501G>T ENST00000537858.1 - 2 329 c.129C>A c.(127-129)gaC>gaA p.D43E NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 43 FHA. p.D43E(2) breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGGTGGGCGTCCTGCCCCC 0.657000 90 49 2.08528e-44 3.16387e-44 1 1 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 8 164 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1427297 1427297 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:1427297C>A ENST00000446702.2 + 20 3147 c.2520C>A c.(2518-2520)gtC>gtA p.V840V CNTN6_ENST00000350110.2_Silent_p.V840V|CNTN6_ENST00000539053.1_Silent_p.V768V Q9UQ52 CNTN6_HUMAN contactin 6 840 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.V840V(2) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTATCAGGTCTTATACTGGA 0.358000 12 83 0.00136819 0.00140001 1 1 0 SIMC1 375484 broad.mit.edu 37 5 175763780 175763780 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:175763780C>A ENST00000443967.1 + 10 2579 c.2172C>A c.(2170-2172)atC>atA p.I724I SIMC1_ENST00000430704.2_Silent_p.I309I|SIMC1_ENST00000341199.6_Silent_p.I309I|SIMC1_ENST00000332772.4_Silent_p.I185I SUMO-interacting motifs containing 1 p.I724I(2) TGTTAGAAATCATATTCCTCC 0.483000 188 84 1.94348e-87 3.10956e-87 1 1 0 NAV2 89797 broad.mit.edu 37 11 19955796 19955796 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:19955796C>A ENST00000396085.1 + 7 2367 c.2006C>A c.(2005-2007)aCt>aAt p.T669N NAV2_ENST00000540292.1_Missense_Mutation_p.T623N|NAV2_ENST00000349880.4_Missense_Mutation_p.T669N|NAV2_ENST00000396087.3_Missense_Mutation_p.T692N|NAV2_ENST00000360655.4_Missense_Mutation_p.T605N|NAV2_ENST00000527559.2_Missense_Mutation_p.T621N NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 692 nucleus ATP binding|helicase activity p.T692N(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATCCCAACACTGCCACGGTT 0.552000 32 80 1.08312e-15 1.29386e-15 1 1 0 HAUS4 54930 broad.mit.edu 37 14 23421768 23421768 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:23421768T>C ENST00000206474.7 - 3 432 c.180A>G c.(178-180)ctA>ctG p.L60L RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000397409.4_Silent_p.L60L|HAUS4_ENST00000555986.1_Silent_p.L60L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000541587.1_Silent_p.L60L|HAUS4_ENST00000555367.1_Silent_p.L60L|HAUS4_ENST00000342454.8_Silent_p.L60L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000347758.2_Silent_p.L60L Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 60 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle p.L60L(2) breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 GCTCCTTTGCTAGGGTGAGGC 0.468000 99 165 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34312507 34312507 + Silent SNP G G A rs143306375 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:34312507G>A ENST00000373381.4 - 6 1187 c.1011C>T c.(1009-1011)cgC>cgT p.R337R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 297 integral to membrane|plasma membrane protein binding p.R297R(2) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACTGAATCCGCGCTGCCGGT 0.607000 113 61 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44781901 44781901 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:44781901G>C ENST00000266534.3 + 8 1118 c.991G>C c.(991-993)Ggg>Cgg p.G331R TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R|TMEM117_ENST00000546978.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 331 endoplasmic reticulum|integral to membrane p.G331R(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TCATGAATATGGGCAATATAT 0.368000 11 37 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845963 18845963 + RNA SNP C C T rs144351257 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr22:18845963C>T ENST00000412938.1 + 0 3321 GATCTCATCGCGGACACCACT 0.517000 11 114 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129264072 129264072 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:129264072G>A ENST00000287295.3 - 15 1873 c.1643C>T c.(1642-1644)cCg>cTg p.P548L AIFM1_ENST00000346424.2_Missense_Mutation_p.P261L|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.P544L|AIFM1_ENST00000460436.2_Missense_Mutation_p.P209L|AIFM1_ENST00000440263.1_Missense_Mutation_p.P196L NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 548 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.P544L(2)|p.P548L(2) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 TGGAACTGCCGGGGTGCTGGG 0.542000 236 501 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141259374 141259374 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:141259374G>T ENST00000286364.3 + 5 485 c.e5-1 RASA2_ENST00000452898.1_Splice_Site Q15283 RASA2_HUMAN RAS p21 protein activator 2 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.?(4) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TGTCATTATAGGGTAAAGTTC 0.328000 10 19 5.50884e-06 5.74835e-06 1 1 0 GABRA5 2558 broad.mit.edu 37 15 27128556 27128556 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:27128556C>T ENST00000335625.5 + 6 1237 c.349C>T c.(349-351)Cgc>Tgc p.R117C GABRA5_ENST00000400081.3_Missense_Mutation_p.R117C|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R117C NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 117 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R117C(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCCCATGCAGCGCCTCCCTCT 0.537000 67 145 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30327006 30327006 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:30327006C>A ENST00000378970.4 - 1 709 c.475G>T c.(475-477)Gct>Tct p.A159S NR0B1_ENST00000453287.1_Missense_Mutation_p.A159S NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 159 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding p.A159S(2) central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) GCTGCCGGAGCCACGTGCGTT 0.677000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 43 1.96292e-10 2.18655e-10 1 1 0 SEC24D 9871 broad.mit.edu 37 4 119659495 119659495 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:119659495C>A ENST00000379735.5 - 19 2691 c.2420G>T c.(2419-2421)cGg>cTg p.R807L SEC24D_ENST00000419654.2_Missense_Mutation_p.R362L|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.R362L|SEC24D_ENST00000511481.1_Missense_Mutation_p.R437L|SEC24D_ENST00000280551.6_Missense_Mutation_p.R806L NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 806 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.R806L(2) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TAGAATTTCCCGGATGACCTT 0.423000 38 78 1.49673e-21 1.9275e-21 1 1 0 EMC1 23065 broad.mit.edu 37 1 19564614 19564614 + Missense_Mutation SNP T T C rs144675935 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:19564614T>C ENST00000477853.1 - 11 1151 c.1109A>G c.(1108-1110)aAt>aGt p.N370S EMC1_ENST00000375199.3_Missense_Mutation_p.N369S|EMC1_ENST00000375208.3_Missense_Mutation_p.N348S|RP1-43E13.2_ENST00000437898.1_RNA NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 p.N370S(2) GTAGGTCTGATTGAAGCAAGC 0.547000 20 60 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65420411 65420411 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:65420411C>T ENST00000519389.1 + 12 2235 c.2056C>T c.(2056-2058)Ccc>Tcc p.P686S HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.P635S|HEPH_ENST00000374727.3_Missense_Mutation_p.P635S|HEPH_ENST00000336279.5_Missense_Mutation_p.P365S|HEPH_ENST00000343002.2_Missense_Mutation_p.P632S Q9BQS7 HEPH_HUMAN hephaestin 632 Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.P632S(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CTCTAACCTGCCCAGGCTGGA 0.547000 21 29 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071071 9071071 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:9071071G>T ENST00000397910.4 - 3 16578 c.16375C>A c.(16375-16377)Ctg>Atg p.L5459M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5461 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L5459M(4)|p.L1092M(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 GTGTCCCCCAGGGTGGAGGTG 0.498000 61 221 1.44317e-28 1.98436e-28 1 1 0 CYP4F22 126410 broad.mit.edu 37 19 15651310 15651310 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:15651310G>T ENST00000269703.2 + 8 920 c.721G>T c.(721-723)Gtc>Ttc p.V241F CYP4F22_ENST00000601005.2_Missense_Mutation_p.V241F NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 241 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.V241F(2) endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CGCTCTGTCTGTCCGGCGCCA 0.557000 37 125 4.65686e-17 5.66549e-17 1 1 0 MTR 4548 broad.mit.edu 37 1 237052487 237052487 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:237052487C>T ENST00000366577.5 + 28 3252 c.2858C>T c.(2857-2859)cCc>cTc p.P953L MTR_ENST00000535889.1_Missense_Mutation_p.P902L NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 953 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.P953L(2) 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) GTAGTGAAGCCCACGTTTATT 0.557000 74 215 0 0 1 0 0 PRKAA1 5562 broad.mit.edu 37 5 40798230 40798230 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:40798230C>A ENST00000397128.2 - 1 70 c.62G>T c.(61-63)cGg>cTg p.R21L PRKAA1_ENST00000354209.3_Missense_Mutation_p.R21L|PRKAA1_ENST00000296800.4_Missense_Mutation_p.R12L NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 21 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding p.R21L(2) breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) GATCTTCACCCGCCCGTCGTG 0.667000 22 47 2.47511e-08 2.66705e-08 1 1 0 B4GALNT1 2583 broad.mit.edu 37 12 58023958 58023958 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:58023958T>C ENST00000341156.4 - 6 1273 c.689A>G c.(688-690)tAc>tGc p.Y230C B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Y175C|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Y230C NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 230 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.Y230C(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GTTGGTCTGGTAGCTTCGGCT 0.572000 21 103 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37126007 37126007 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:37126007G>T ENST00000262879.6 + 4 685 c.401G>T c.(400-402)gGt>gTt p.G134V RALGAPB_ENST00000397040.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G134V Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 134 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.G134V(2) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGGAACAGGGTTCCAGTCAG 0.498000 34 47 1.56442e-22 2.03451e-22 1 1 0 EXOSC7 23016 broad.mit.edu 37 3 45038682 45038682 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:45038682G>T ENST00000265564.7 + 4 406 c.358G>T c.(358-360)Gac>Tac p.D120Y EXOSC7_ENST00000461361.1_3'UTR NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 120 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding p.D120Y(2) endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) AAGCAGTGTCGACTTAAAGAC 0.488000 59 111 7.47603e-22 9.67486e-22 1 1 0 TLR6 10333 broad.mit.edu 37 4 38831004 38831004 + Nonsense_Mutation SNP C C A rs138225547 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:38831004C>A ENST00000436693.2 - 2 210 c.91G>T c.(91-93)Gga>Tga p.G31* TLR6_ENST00000381950.1_Nonsense_Mutation_p.G31* NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 31 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.G31*(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AATTCATTTCCGTCGGAGAAC 0.373000 68 143 2.49587e-40 3.7652e-40 1 1 0 FLNC 2318 broad.mit.edu 37 7 128496848 128496848 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:128496848C>A ENST00000325888.8 + 45 7695 c.7434C>A c.(7432-7434)atC>atA p.I2478I RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2445I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2478 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.I2478I(2) 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 TCCACTCCATCGATGTCAAGT 0.592000 35 66 4.14481e-20 5.26072e-20 1 1 0 GABBR2 9568 broad.mit.edu 37 9 101235551 101235551 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr9:101235551C>A ENST00000259455.2 - 6 1335 c.876G>T c.(874-876)caG>caT p.Q292H GABBR2_ENST00000477471.1_5'UTR NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 292 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.Q292H(2) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CCGTGTGCACCTGCTCCCACC 0.537000 40 57 1.91236e-09 2.09486e-09 1 1 0 CDH23 64072 broad.mit.edu 37 10 73270728 73270728 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:73270728C>A ENST00000224721.6 + 4 311 c.306C>A c.(304-306)acC>acA p.T102T CDH23_ENST00000398809.4_Silent_p.T102T|CDH23_ENST00000398842.3_Silent_p.T102T|CDH23_ENST00000461841.3_Silent_p.T147T|CDH23_ENST00000299366.7_Silent_p.T147T|CDH23-AS1_ENST00000428918.1_RNA NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 102 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.T102T(4) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGAGTTCACCGTGGAGTTCT 0.617000 60 140 4.79706e-38 7.15494e-38 1 1 0 NRK 203447 broad.mit.edu 37 X 105189911 105189911 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:105189911T>C ENST00000428173.2 + 25 4413 c.4110T>C c.(4108-4110)taT>taC p.Y1370Y NRK_ENST00000243300.9_Silent_p.Y1369Y Q7Z2Y5 NRK_HUMAN Nik related kinase 1369 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.Y1369Y(2)|p.Y1370Y(2) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACATGTCCTATCAAGCCTATA 0.438000 HNSCC(51;0.14) 5 33 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113988081 113988081 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr8:113988081C>A ENST00000297405.5 - 7 1571 c.1327G>T c.(1327-1329)Gtt>Ttt p.V443F CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V443F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V403F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 443 integral to membrane|plasma membrane p.V403F(2)|p.V443F(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 TGAGTAACAACTGCAAGCTCT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 86 6.04164e-23 7.89601e-23 1 1 0 C10orf71 118461 broad.mit.edu 37 10 50531828 50531828 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:50531828C>T ENST00000374144.3 + 3 1526 c.1238C>T c.(1237-1239)aCa>aTa p.T413I C10orf71_ENST00000323868.4_Missense_Mutation_p.T413I Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 413 p.T413I(2) endometrium(1) 1 CCTTTGTATACAAAACACAAC 0.438000 11 171 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248757058 248757058 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248757058G>T ENST00000330500.2 - 1 42 c.12C>A c.(10-12)gcC>gcA p.A4A NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A4A(2) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) GGGTCTGGTTGGCCAGCCGCA 0.458000 23 64 2.27525e-19 2.83333e-19 1 1 0 OTUD7B 56957 broad.mit.edu 37 1 149915924 149915924 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:149915924C>A ENST00000369135.3 - 12 2658 c.2364G>T c.(2362-2364)tgG>tgT p.W788C NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 788 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding p.W788C(2) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GACCTCCAGCCCATCCATCTG 0.547000 64 209 2.43698e-19 3.02048e-19 1 1 0 EPX 8288 broad.mit.edu 37 17 56270454 56270454 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:56270454G>C ENST00000225371.5 + 2 242 c.132G>C c.(130-132)aaG>aaC p.K44N NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 44 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding p.K44N(2) breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CAGAGGCCAAGTTGCTGGTGG 0.617000 112 269 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55361675 55361675 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:55361675C>A ENST00000290552.7 + 4 1923 c.591C>A c.(589-591)ttC>ttA p.F197L RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 197 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F197L(2) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCACCTGGTTCGCCAACGCAC 0.577000 61 167 6.25564e-26 8.38319e-26 1 1 0 IDS 3423 broad.mit.edu 37 X 148564704 148564704 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:148564704G>A ENST00000340855.6 - 9 1435 c.1226C>T c.(1225-1227)aCg>aTg p.T409M IDS_ENST00000541269.1_Missense_Mutation_p.T198M|IDS_ENST00000537071.1_Missense_Mutation_p.T12M|AF011889.5_ENST00000422081.1_RNA NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 409 lysosome iduronate-2-sulfatase activity|metal ion binding p.T409M(2) NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCAGCCAGCGTGGGAAAAAG 0.512000 43 110 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89920950 89920950 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:89920950G>T ENST00000405460.2 + 6 658 c.562G>T c.(562-564)Gag>Tag p.E188* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 188 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.E188*(2) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGCAGGTAGAGGGTGGCCC 0.393000 18 13 6.94344e-10 7.66974e-10 1 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64133210 64133210 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:64133210G>T ENST00000295902.6 - 7 1541 c.956C>A c.(955-957)tCt>tAt p.S319Y PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S375Y NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 319 cytoplasm|nuclear membrane zinc ion binding p.S319Y(2) breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGAGGAGTCAGAACCATTGGG 0.607000 65 294 1.43987e-31 2.00066e-31 1 1 0 OR14I1 401994 broad.mit.edu 37 1 248845133 248845133 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248845133G>T ENST00000342623.3 - 1 496 c.473C>A c.(472-474)aCt>aAt p.T158N NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T158N(2) NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CATGTTGCCAGTGTGGACGGC 0.547000 21 65 2.39556e-15 2.84878e-15 1 1 0 BPI 671 broad.mit.edu 37 20 36964032 36964032 + Missense_Mutation SNP C C A rs143433981 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:36964032C>A ENST00000262865.4 + 14 1470 c.1381C>A c.(1381-1383)Ccg>Acg p.P461T BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 461 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding p.P461T(2) kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTCCCGACGCCGGCCAGAGT 0.562000 72 103 4.81439e-37 7.10056e-37 1 1 0 SSTR4 6754 broad.mit.edu 37 20 23016506 23016506 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:23016506A>T ENST00000255008.3 + 1 450 c.386A>T c.(385-387)aAc>aTc p.N129I RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 129 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.N129I(2) 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) GACGGCCTCAACATGTTCACC 0.701000 169 109 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57960335 57960335 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:57960335A>G ENST00000216445.3 - 1 235 c.99T>C c.(97-99)ttT>ttC p.F33F C14orf105_ENST00000526336.1_Silent_p.F33F|C14orf105_ENST00000534126.1_Silent_p.F33F|C14orf105_ENST00000422976.2_Silent_p.F33F NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 33 p.F33F(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 GATTGAATGCAAAGTCCACAC 0.463000 34 103 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 5 263 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69882001 69882001 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:69882001C>T ENST00000358913.5 + 2 1294 c.806C>T c.(805-807)cCc>cTc p.P269L MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P269L|MYPN_ENST00000373675.3_Missense_Mutation_p.P269L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 269 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding p.P269L(2) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGGCAACCTCCCCGGTTCACT 0.527000 24 117 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55716908 55716908 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:55716908G>T ENST00000376350.3 - 4 427 c.405C>A c.(403-405)atC>atA p.I135I PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 135 Fibronectin type-III 2. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.I135I(2) breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGGTCAGGGCGATGGAGCTGT 0.587000 73 78 1.07363e-35 1.54884e-35 1 1 0 STX18 53407 broad.mit.edu 37 4 4458978 4458978 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:4458978C>G ENST00000306200.2 - 5 500 c.437G>C c.(436-438)tGt>tCt p.C146S STX18_ENST00000505286.1_Missense_Mutation_p.C146S NM_016930.2 NP_058626.1 Q9P2W9 STX18_HUMAN syntaxin 18 146 ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity p.C146S(2) large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) GTAAAGTTTACATACTCCTGT 0.353000 22 46 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3684492 3684492 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:3684492G>A ENST00000344754.4 - 4 952 c.953C>T c.(952-954)cCc>cTc p.P318L SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P318L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 318 Ig-like C2-type 2. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.P318L(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GAGGCTGATGGGGGGTGAGAC 0.612000 51 76 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124731954 124731954 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:124731954G>A ENST00000311127.4 - 6 2536 c.2469C>T c.(2467-2469)tcC>tcT p.S823S NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 823 extracellular region|integral to membrane calcium ion binding p.S823S(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TTTGCTCTGTGGAGGACTCTG 0.478000 86 172 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049524 11049524 + RNA SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr21:11049524G>T ENST00000470054.1 - 0 584 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) CTGTATCCAGGCACATTCCAT 0.458000 62 134 1.20111e-47 1.86526e-47 1 1 0 KDM3B 51780 broad.mit.edu 37 5 137722285 137722285 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:137722285G>A ENST00000314358.5 + 7 1555 c.1355G>A c.(1354-1356)gGc>gAc p.G452D KDM3B_ENST00000394866.1_Missense_Mutation_p.G108D|KDM3B_ENST00000542866.1_5'UTR NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 452 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.G452D(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAACAGAAAGGCAGCCGGTCG 0.527000 50 164 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47699995 47699995 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr21:47699995T>C ENST00000397708.1 - 5 1833 c.1579A>G c.(1579-1581)Agc>Ggc p.S527G MCM3AP_ENST00000291688.1_Missense_Mutation_p.S527G O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 527 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding p.S527G(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GTGCTCGGGCTGACTTCACCG 0.532000 108 228 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144855788 144855788 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:144855788C>A ENST00000369359.4 - 44 7211 c.7173G>T c.(7171-7173)tgG>tgT p.W2391C PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W2340C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W2149C|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2255 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.W2255C(4) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGGCCGCTCTCCAGAACATGG 0.582000 T PDGFRB MPD 38 155 2.32173e-10 2.57537e-10 1 1 0 OR2T2 401992 broad.mit.edu 37 1 248616139 248616139 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248616139T>G ENST00000342927.3 + 1 63 c.41T>G c.(40-42)gTc>gGc p.V14G NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V14S(2)|p.V14A(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) ACTAACTTCGTCCTCACAGGC 0.502000 40 197 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78325854 78325854 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:78325854C>A ENST00000255189.3 - 11 1715 c.1687G>T c.(1687-1689)Ggt>Tgt p.G563C DMGDH_ENST00000540686.1_Missense_Mutation_p.G183C|DMGDH_ENST00000380311.4_Missense_Mutation_p.G362C NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 563 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity p.G563C(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTTGTAAAACCCACCTACATA 0.348000 15 48 5.01169e-05 5.16831e-05 1 1 0 CCDC129 223075 broad.mit.edu 37 7 31690852 31690852 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:31690852C>T ENST00000319386.3 + 12 3229 c.2236C>T c.(2236-2238)Ctc>Ttc p.L746F CCDC129_ENST00000451887.2_Missense_Mutation_p.L920F|CCDC129_ENST00000409210.1_Missense_Mutation_p.L802F|CCDC129_ENST00000407970.3_Missense_Mutation_p.L894F Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 894 p.L894F(2)|p.L746F(2) cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACAGCAGGCCCTCTTTTCCAG 0.473000 48 109 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059153 248059153 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248059153G>T ENST00000537741.1 + 3 522 c.265G>T c.(265-267)Gac>Tac p.D89Y OR2W3_ENST00000360358.3_Missense_Mutation_p.D89Y Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D89Y(2) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TAATGGATGTGACAAGACCAT 0.567000 94 171 6.83469e-46 1.05518e-45 1 1 0 BTK 695 broad.mit.edu 37 X 100613339 100613339 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:100613339G>A ENST00000308731.7 - 12 1224 c.1061C>T c.(1060-1062)aCc>aTc p.T354I BTK_ENST00000372880.1_Intron NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 354 SH2. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding p.T354I(2) breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTCAGGGATGGTGCTGAAAAG 0.502000 Agammaglobulinemia, X-linked 147 334 0 0 1 0 0 C10orf53 282966 broad.mit.edu 37 10 50916417 50916417 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:50916417C>A ENST00000374112.3 + 3 240 c.228C>A c.(226-228)acC>acA p.T76T C10orf53_ENST00000535836.1_Silent_p.T76T NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 79 p.T76T(2) endometrium(1)|lung(6) 7 all_neural(218;0.107) gcaagctcaccccaagtagtg 0.493000 48 104 6.23363e-37 9.14266e-37 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276100 186276100 + Missense_Mutation SNP A A C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:186276100A>C ENST00000445192.2 + 7 1294 c.1249A>C c.(1249-1251)Acc>Ccc p.T417P PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 417 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T417P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.652000 8 155 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000141 56000141 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:56000141C>A ENST00000313264.4 - 1 596 c.521G>T c.(520-522)aGc>aTc p.S174I NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S174I(2) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GGGTGACATGCTCACTGAATA 0.433000 52 130 3.68337e-26 4.96128e-26 1 1 0 NOLC1 9221 broad.mit.edu 37 10 103917833 103917833 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:103917833G>T ENST00000405356.1 + 5 704 c.469G>T c.(469-471)Gcc>Tcc p.A157S NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.A158S|NOLC1_ENST00000605788.1_Missense_Mutation_p.A157S Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 157 11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding p.A157S(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) AGCCAAGGCAGCCAAAGCTCC 0.488000 44 126 8.20599e-20 1.02672e-19 1 1 0 OR10A4 283297 broad.mit.edu 37 11 6898596 6898596 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:6898596T>G ENST00000379829.2 + 1 741 c.718T>G c.(718-720)Tcc>Gcc p.S240A NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S240A(2) kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGGCATTCTCCACCTGTTC 0.507000 28 178 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887584 23887584 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:23887584G>A ENST00000355349.3 - 30 4166 c.4004C>T c.(4003-4005)tCg>tTg p.S1335L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335L(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGCCGGGCCGACTGCAGTGC 0.657000 18 89 0 0 1 0 0 DDX49 54555 broad.mit.edu 37 19 19033422 19033422 + Silent SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:19033422C>T ENST00000438170.2 + 7 736 c.324C>T c.(322-324)acC>acT p.T108T DDX49_ENST00000247003.4_Silent_p.T215T|DDX49_ENST00000599156.1_Intron|AC002985.3_ENST00000596918.1_Intron Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 215 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding p.T215T(2) breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 18 Epithelial(12;0.0289) GGGTGAGCACCGTGGAGCAGC 0.637000 22 75 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43359723 43359723 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:43359723C>A ENST00000401467.2 - 1 120 c.49G>T c.(49-51)Ggg>Tgg p.G17W PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 17 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AGCAGGACCCCCTTCCATTTG 0.572000 175 160 6.2965e-74 9.95375e-74 1 1 0 EP400 57634 broad.mit.edu 37 12 132510236 132510236 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:132510236G>T ENST00000333577.4 + 26 5118 c.5009G>T c.(5008-5010)cGa>cTa p.R1670L EP400_ENST00000389562.2_Missense_Mutation_p.R1633L|EP400_ENST00000389561.2_Missense_Mutation_p.R1634L|EP400_ENST00000330386.6_Missense_Mutation_p.R1553L|EP400_ENST00000332482.4_Missense_Mutation_p.R1597L Q96L91 EP400_HUMAN E1A binding protein p400 1670 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.R1633L(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCTACCTTCGAGCCCCTGGC 0.672000 41 69 8.20599e-20 1.02672e-19 1 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011313 105011313 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:105011313G>A ENST00000372582.1 + 11 2476 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E179K|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E574K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 574 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity p.E574K(2) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGACTCCGCAGAACAAGGACT 0.438000 42 105 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42003698 42003698 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:42003698G>C ENST00000264451.6 + 2 355 c.175G>C c.(175-177)Ggt>Cgt p.G59R NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 59 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity p.G59R(2) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCATATATTGGTACCCTGAG 0.353000 14 51 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. 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.Q210Q(2) 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 agcagcaacagcagcagcagc 0.502000 11 33 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52780771 52780771 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:52780771G>A ENST00000593612.1 + 2 417 c.40G>A c.(40-42)Gag>Aag p.E14K ZNF766_ENST00000600821.1_Intron|ZNF766_ENST00000439461.1_Intron|ZNF766_ENST00000599581.1_Intron|ZNF766_ENST00000359102.4_Missense_Mutation_p.E14K Q5HY98 ZN766_HUMAN zinc finger protein 766 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GAAAGCAGAGGAGTCAGGCAT 0.448000 4 9 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32048735 32048735 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:32048735G>T ENST00000438447.1 + 8 1998 c.1610G>T c.(1609-1611)cGa>cTa p.R537L PDZD2_ENST00000282493.3_Missense_Mutation_p.R537L O15018 PDZD2_HUMAN PDZ domain containing 2 537 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.R537L(2) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GAGGTCTCCCGAGATGGCCGG 0.562000 45 194 5.44703e-19 6.68844e-19 1 1 0 COQ7 10229 broad.mit.edu 37 16 19087069 19087069 + Nonsense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:19087069G>T ENST00000321998.5 + 4 460 c.394G>T c.(394-396)Gaa>Taa p.E132* COQ7_ENST00000568985.1_Nonsense_Mutation_p.E132*|COQ7_ENST00000569127.1_Nonsense_Mutation_p.E109*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.E94* NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 132 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding p.E132*(2) breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 GCTCGGGAAGGAAGGTGCCAT 0.552000 34 235 3.33393e-15 3.92928e-15 1 1 0 ZDHHC9 51114 broad.mit.edu 37 X 128957764 128957764 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:128957764G>A ENST00000357166.6 - 5 769 c.378C>T c.(376-378)atC>atT p.I126I ZDHHC9_ENST00000371064.3_Silent_p.I126I|ZDHHC9_ENST00000491039.1_5'UTR NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 126 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding p.I126I(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 GGAAATTCTTGATACGAGGCG 0.493000 28 453 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4168422 4168422 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:4168422G>A ENST00000078445.2 + 6 936 c.789G>A c.(787-789)aaG>aaA p.K263K CREB3L3_ENST00000602257.1_Silent_p.K261K|CREB3L3_ENST00000252587.3_Silent_p.K203K|CREB3L3_ENST00000595923.1_Silent_p.K262K|CREB3L3_ENST00000602147.1_Intron NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 263 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K263K(1) breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGAAGAAGAAGAAGGAAT 0.537000 13 52 0 0 1 0 0 PMPCB 9512 broad.mit.edu 37 7 102937953 102937953 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:102937953G>T ENST00000249269.4 + 1 85 c.47G>T c.(46-48)cGg>cTg p.R16L PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R16L NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 16 RR -> GG (in Ref. 1; AAC39915). proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding p.R16L(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCGGCGCGGCGGCGGCTCTGG 0.652000 OREG0018240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 46 1.75199e-13 2.02861e-13 1 1 0 PLIN3 10226 broad.mit.edu 37 19 4859660 4859660 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:4859660T>C ENST00000221957.4 - 4 466 c.290A>G c.(289-291)cAc>cGc p.H97R PLIN3_ENST00000585479.1_Missense_Mutation_p.H97R|PLIN3_ENST00000592528.1_Missense_Mutation_p.H97R NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 97 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding p.H97R(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) CAGCCCCCTGTGGGCGTATTC 0.567000 20 101 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764395 82764395 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:82764395G>A ENST00000423517.2 - 3 2808 c.2471C>T c.(2470-2472)cCt>cTt p.P824L PCLO_ENST00000333891.8_Missense_Mutation_p.P824L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 770 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P824L(4)|p.P770L(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTGATGCAGGTCGAGGTAT 0.438000 102 175 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060247 16060247 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:16060247C>G ENST00000322107.1 + 1 430 c.430C>G c.(430-432)Cat>Gat p.H144D NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 144 H -> R (in dbSNP:rs16980822). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H144D(2) breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 TGACTGTGCCCATCTTGTGGC 0.542000 37 124 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 126 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158622310 158622310 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:158622310C>A ENST00000368148.3 - 23 3502 c.3322G>T c.(3322-3324)Gtg>Ttg p.V1108L SPTA1_ENST00000368147.3_Missense_Mutation_p.V1108L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1108 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.V1108L(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTAGTTCCACTCCAGTGTTT 0.408000 45 117 4.0306e-16 4.83672e-16 1 1 0 NEK4 6787 broad.mit.edu 37 3 52794870 52794870 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:52794870T>A ENST00000233027.5 - 6 1106 c.904A>T c.(904-906)Aat>Tat p.N302Y NEK4_ENST00000383721.4_Missense_Mutation_p.N302Y|NEK4_ENST00000535191.1_Missense_Mutation_p.N213Y NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 302 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity p.N302Y(2) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) ACTTCATGATTTGATTCTGCC 0.378000 74 125 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20824527 20824527 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:20824527G>T ENST00000304031.3 - 5 774 c.749C>A c.(748-750)cCa>cAa p.P250Q NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 250 cell communication phosphatidylinositol binding p.P250Q(2) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGGTCCTGTGGAGACAGCTT 0.642000 23 198 1.1804e-14 1.385e-14 1 1 0 KIF2B 84643 broad.mit.edu 37 17 51900791 51900791 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:51900791G>T ENST00000268919.4 + 1 553 c.397G>T c.(397-399)Gtg>Ttg p.V133L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 133 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.V133L(2)|p.V133M(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAGCCTGGATGTGAGGGTCCC 0.582000 71 178 3.58576e-35 5.11698e-35 1 1 0 NBPF14 25832 broad.mit.edu 37 1 148016411 148016411 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:148016411G>A ENST00000369219.1 - 7 847 c.831C>T c.(829-831)ccC>ccT p.P277P Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 277 NBPF 3. cytoplasm p.P277P(2)|p.P283L(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGACTCACCTGGGACCTGTTG 0.438000 146 106 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110862504 110862504 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr13:110862504C>G ENST00000375820.4 - 9 645 c.524G>C c.(523-525)aGa>aCa p.R175T COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 175 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.R175T(2)|p.R166T(2) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGAAATCCTCTTTCACCTTT 0.453000 36 43 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98146807 98146807 + Missense_Mutation SNP G G T rs144026118 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:98146807G>T ENST00000357947.3 - 14 1980 c.1755C>A c.(1753-1755)caC>caA p.H585Q NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 585 EGF-like 1; calcium-binding (Potential). EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.H585Q(2) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGCACCCGCCGTGATCTGGCC 0.582000 84 100 2.18481e-45 3.33404e-45 1 1 0 CSMD3 114788 broad.mit.edu 37 8 114186033 114186033 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr8:114186033G>A ENST00000297405.5 - 4 871 c.627C>T c.(625-627)atC>atT p.I209I CSMD3_ENST00000455883.2_Silent_p.I209I|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.I209I|CSMD3_ENST00000343508.3_Silent_p.I169I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 209 Sushi 1. integral to membrane|plasma membrane p.I209I(2)|p.I169I(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 GGCCATCAAGGATGTATCCAG 0.458000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 139 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11047364 11047364 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:11047364A>G ENST00000379261.4 + 1 106 c.14A>G c.(13-15)aAa>aGa p.K5R CELF2_ENST00000416382.2_Missense_Mutation_p.K5R NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 5 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding p.K5R(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CGCTGTCCCAAATCCGCTGTT 0.438000 30 226 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704148 6704148 + Missense_Mutation SNP G G C rs150562113 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:6704148G>C ENST00000338694.2 - 7 1096 c.967C>G c.(967-969)Cgg>Ggg p.R323G TEKT1_ENST00000535086.1_Missense_Mutation_p.R177G NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 323 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.H322_R323>QG(1)|p.R323G(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) ACGTTCGGCCGGTGTGTCCTG 0.527000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 117 186 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 77 214 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925554 54925554 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:54925554C>A ENST00000293373.6 + 25 2805 c.2726C>A c.(2725-2727)aCc>aAc p.T909N NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T859N NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 909 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.T909N(2) 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 AAGCGCATGACCATCATTGGG 0.493000 36 141 5.43694e-19 6.68844e-19 1 1 0 AHRR 57491 broad.mit.edu 37 5 353963 353963 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:353963C>G ENST00000316418.5 + 3 237 c.193C>G c.(193-195)Ctg>Gtg p.L65V AHRR_ENST00000505113.1_Missense_Mutation_p.L65V|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.L61V NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 65 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.L61V(2) breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CATCTCCAAGCTGGACAAGCT 0.592000 77 211 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188147 57188147 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:57188147G>C ENST00000331162.4 - 5 1245 c.975C>G c.(973-975)tgC>tgG p.C325W NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C325W(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CCTCACACCTGCAGGGTTTCT 0.453000 14 33 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20443793 20443793 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:20443793T>A ENST00000305051.5 + 1 191 c.116T>A c.(115-117)cTg>cAg p.L39Q NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L39Q(2) endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGTGTTGCTGGGACTGTCT 0.403000 31 98 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6208958 6208958 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:6208958G>A ENST00000262450.3 - 9 1438 c.1339C>T c.(1339-1341)Ctg>Ttg p.L447L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 447 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.L447L(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ATCTCGGGCAGCGGCGGGTTG 0.701000 78 40 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96506952 96506952 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:96506952T>A ENST00000283109.3 - 6 805 c.737A>T c.(736-738)gAt>gTt p.D246V RIOK2_ENST00000508447.1_Missense_Mutation_p.D246V|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 246 ATP binding|protein serine/threonine kinase activity p.D246V(4) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CTGTGGAAAATCAATCATGGT 0.318000 17 55 0 0 1 0 0 ALMS1P 200420 broad.mit.edu 37 2 73901983 73901983 + RNA SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:73901983C>G ENST00000450720.1 + 0 936 NR_003683.2 p.Q152E(2) CCTGGCTGTCCAGAAGAACAA 0.478000 27 35 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228492264 228492264 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:228492264A>G ENST00000570156.2 + 53 14337 c.14263A>G c.(14263-14265)Agg>Ggg p.R4755G OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1445G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3798 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R4380G(2)|p.R4510G(2) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACTCACGATCAGGGGTAAAGA 0.557000 34 96 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711454 195711454 + RNA SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:195711454C>A ENST00000427841.1 - 0 493 NR_003264.2 CCAGAGCCTCCCGCCCATCAC 0.572000 8 92 1.02788e-11 1.15473e-11 1 1 0 FAM86DP 692099 broad.mit.edu 37 3 75476630 75476630 + RNA SNP T T G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:75476630T>G ENST00000459803.1 - 0 726 NR_024241.1 p.V229V(2) GGACCGTCGCTACGTCCCAGT 0.582000 11 81 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91348044 91348044 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:91348044G>T ENST00000358859.2 - 1 909 c.476C>A c.(475-477)cCg>cAg p.P159Q CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CGGGCTCCGCGGGTAGGAGTG 0.706000 7 55 0.00010058 0.000103319 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31864558 31864558 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:31864558C>A ENST00000396184.3 - 14 1533 c.1329G>T c.(1327-1329)acG>acT p.T443T PDE1C_ENST00000396191.1_Silent_p.T443T|PDE1C_ENST00000396193.1_Silent_p.T503T|PDE1C_ENST00000396182.2_Silent_p.T443T|PDE1C_ENST00000321453.7_Silent_p.T443T NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 443 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.T443T(2)|p.D444Y(2)|p.T503T(1)|p.D504Y(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CGGTCATGTCCGTAAGCACAG 0.483000 58 164 2.75338e-15 3.25961e-15 1 1 0 CDH10 1008 broad.mit.edu 37 5 24537699 24537699 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:24537699C>A ENST00000264463.4 - 3 823 c.316G>T c.(316-318)Gaa>Taa p.E106* NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 106 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E106*(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCTGTTTTTTCATCAATAATA 0.388000 HNSCC(23;0.051) 4 44 1 1 1 1 0 NRK 203447 broad.mit.edu 37 X 105132286 105132286 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:105132286G>T ENST00000428173.2 + 5 555 c.e5-1 NRK_ENST00000243300.9_Splice_Site|NRK_ENST00000536164.1_Splice_Site Q7Z2Y5 NRK_HUMAN Nik related kinase ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.?(4) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TTATTCCATAGGATGAGGAAG 0.398000 HNSCC(51;0.14) 5 19 3.59834e-05 3.72534e-05 1 1 0 MED24 9862 broad.mit.edu 37 17 38192396 38192396 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:38192396G>A ENST00000394126.1 - 3 718 c.300C>T c.(298-300)taC>taT p.Y100Y MED24_ENST00000501516.3_Silent_p.Y75Y|MED24_ENST00000394128.2_Silent_p.Y75Y|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Intron|MED24_ENST00000394127.2_Intron O75448 MED24_HUMAN mediator complex subunit 24 75 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.Y75Y(2) autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GGACAGAAGAGTAGGACACCA 0.498000 39 102 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50946023 50946023 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:50946023G>A ENST00000374103.4 - 19 2572 c.2487C>T c.(2485-2487)cgC>cgT p.R829R OGDHL_ENST00000419399.1_Silent_p.R772R|OGDHL_ENST00000432695.1_Silent_p.R620R|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 829 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R829R(2) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGATCTGCCGGCGCAGCACGT 0.652000 65 288 0 0 1 0 0 CXorf40B 541578 broad.mit.edu 37 X 149101918 149101918 + Nonsense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:149101918C>A ENST00000370406.3 - 4 1003 c.175G>T c.(175-177)Gag>Tag p.E59* CXorf40B_ENST00000355203.2_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000462691.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000370404.1_Nonsense_Mutation_p.E59* Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 59 p.E59*(2) endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCGAGTCTCTCCACCAGCAGC 0.577000 82 314 1.31735e-33 1.85979e-33 1 1 0 OPN5 221391 broad.mit.edu 37 6 47775990 47775990 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:47775990A>T ENST00000489301.2 + 5 942 c.857A>T c.(856-858)cAg>cTg p.Q286L OPN5_ENST00000371211.2_Missense_Mutation_p.Q286L|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.Q286L Q6U736 OPN5_HUMAN opsin 5 286 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.Q286L(2) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 ATTCCCATACAGCTCTCTGTG 0.458000 65 192 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28424343 28424343 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:28424343T>C ENST00000261609.7 - 58 9072 c.8964A>G c.(8962-8964)acA>acG p.T2988T NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2988 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T2988T(2) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCTGACAGTGTCTCAGAGA 0.294000 64 100 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56443508 56443508 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:56443508C>A ENST00000588751.1 - 1 194 c.170G>T c.(169-171)tGg>tTg p.W57L NLRP13_ENST00000342929.3_Missense_Mutation_p.W57L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 57 DAPIN. ATP binding p.W57L(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAGTTTGCCCAGGGGATACG 0.547000 121 91 4.03838e-40 6.05757e-40 1 1 0 ALS2 57679 broad.mit.edu 37 2 202609145 202609145 + Missense_Mutation SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:202609145T>C ENST00000264276.6 - 10 2378 c.2006A>G c.(2005-2007)tAt>tGt p.Y669C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 669 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity p.Y669C(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TCTGCTTATATATCCAAGCTG 0.353000 48 30 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20177828 20177828 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:20177828G>T ENST00000524983.2 - 4 1252 c.964C>A c.(964-966)Cct>Act p.P322T DBX1_ENST00000227256.3_Missense_Mutation_p.P361T A6NMT0 DBX1_HUMAN developing brain homeobox 1 322 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P361T(2) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 AAGTCCGAAGGTTTCCCGGGA 0.652000 102 227 2.78421e-50 4.3493e-50 1 1 0 GOLIM4 27333 broad.mit.edu 37 3 167728078 167728078 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:167728078T>C ENST00000470487.1 - 16 2759 c.2070A>G c.(2068-2070)tcA>tcG p.S690S GOLIM4_ENST00000309027.4_Silent_p.S662S NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 690 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus p.S690S(2) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTCGATGTGATTTCTCAG 0.493000 38 147 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151664369 151664369 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:151664369C>A ENST00000392800.2 + 2 292 c.38C>A c.(37-39)tCc>tAc p.S13Y GALNTL5_ENST00000431418.2_Missense_Mutation_p.S13Y NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 13 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.S13Y(2) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTCTATGGGTCCTTGACATTT 0.383000 14 62 9.05144e-12 1.02557e-11 1 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28338490 28338490 + Missense_Mutation SNP A A C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr21:28338490A>C ENST00000284987.5 - 1 342 c.221T>G c.(220-222)gTg>gGg p.V74G NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 74 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GATGTTCTGCACCAGCCCCTT 0.726000 12 94 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197104226 197104226 + Splice_Site SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:197104226C>A ENST00000367409.4 - 5 2429 c.2173_splice c.e5+1 p.V725_splice ASPM_ENST00000367408.1_5'UTR|ASPM_ENST00000294732.7_Splice_Site_p.V725_splice NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 725 mitosis cytoplasm|nucleus calmodulin binding p.V725L(2) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TAACGTTTACCTTCAGAAATA 0.269000 4 17 0.00909568 0.00916511 1 1 0 SLIT3 6586 broad.mit.edu 37 5 168098448 168098448 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:168098448G>T ENST00000519560.1 - 34 4301 c.3882C>A c.(3880-3882)ggC>ggA p.G1294G SLIT3_ENST00000332966.8_Silent_p.G1301G|SLIT3_ENST00000404867.3_Silent_p.G1294G NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1294 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.G1294G(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCGGTCCGTGCCCTGGCGCA 0.672000 20 9 1.64293e-13 1.91072e-13 1 1 0 ASPA 443 broad.mit.edu 37 17 3385072 3385072 + Nonsense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:3385072C>T ENST00000263080.2 + 2 570 c.412C>T c.(412-414)Cag>Tag p.Q138* ASPA_ENST00000456349.2_Nonsense_Mutation_p.Q138*|SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 138 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding p.Q138*(2) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) CTTTTTAATTCAGATGTTTCA 0.318000 10 16 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 5 25 0 0 1 0 0 LAX1 54900 broad.mit.edu 37 1 203743633 203743633 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:203743633G>T ENST00000442561.2 + 5 1411 c.1021G>T c.(1021-1023)Gct>Tct p.A341S LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A325S NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 341 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding p.A341S(2) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GACATTCCTTGCTTCAGGGGA 0.468000 57 128 1.03172e-35 1.49657e-35 1 1 0 SLC7A11 23657 broad.mit.edu 37 4 139100436 139100436 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:139100436C>A ENST00000280612.5 - 11 1658 c.1379G>T c.(1378-1380)gGa>gTa p.G460V NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 460 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding p.G460V(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) CGCAGGGACTCCAGTCAGAGT 0.423000 37 69 1.60099e-16 1.92995e-16 1 1 0 ANKS1B 56899 broad.mit.edu 37 12 99837534 99837534 + Missense_Mutation SNP T T G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:99837534T>G ENST00000547776.2 - 11 1491 c.1492A>C c.(1492-1494)Agc>Cgc p.S498R ANKS1B_ENST00000547010.1_Missense_Mutation_p.S78R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S498R NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 498 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane p.S498R(2) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCTGTTGAGCTGTTTCTATGG 0.438000 22 38 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81187704 81187704 + RNA SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:81187704G>C ENST00000525539.1 - 0 4267 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.P1423R(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAGGTGGTGGGGCTCTCTCTC 0.602000 9 16 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149131 52149131 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:52149131G>T ENST00000360844.6 - 3 645 c.604C>A c.(604-606)Ccc>Acc p.P202T SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 202 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.P202T(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TCGGGCCTGGGGGTGAGGGTG 0.627000 50 44 9.40368e-32 1.31353e-31 1 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227218999 227218999 + Splice_Site SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:227218999C>G ENST00000366769.3 - 27 4961 c.3670_splice c.e27+1 p.D1224_splice CDC42BPA_ENST00000535525.1_Splice_Site_p.D1204_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.D1259_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.D1224_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.D1143_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.D1237_splice|CDC42BPA_ENST00000366764.2_Splice_Site_p.D1196_splice NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1237 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.D1224H(2)|p.D1143H(2)|p.D1259H(2) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AAATTCATACCTATGATTGCG 0.388000 16 72 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119727780 119727780 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:119727780T>A ENST00000541757.1 + 4 436 c.56T>A c.(55-57)cTg>cAg p.L19Q MARCO_ENST00000327097.4_Missense_Mutation_p.L97Q Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 97 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.L97Q(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TTCTCCTTGCTGCAGTCAGCA 0.617000 133 74 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38145111 38145111 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:38145111T>C ENST00000378505.2 - 15 3317 c.3141A>G c.(3139-3141)gaA>gaG p.E1047E TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 836 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding p.E1047E(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 ccccctccttttccctttctt 0.537000 18 29 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12905653 12905653 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:12905653A>T ENST00000380659.3 + 3 2165 c.2026A>T c.(2026-2028)Aat>Tat p.N676Y NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 676 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity p.N676Y(1) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TATGCCTCCAAATCTAAAGAA 0.373000 6 306 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91667886 91667886 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:91667886A>G ENST00000359028.2 + 18 4753 c.4528A>G c.(4528-4530)Att>Gtt p.I1510V AKAP9_ENST00000356239.3_Missense_Mutation_p.I1498V|AKAP9_ENST00000358100.2_Missense_Mutation_p.I1510V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1510 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.I1510V(2)|p.I1498V(2) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAGGATCAAATTGGTTTTCA 0.323000 T BRAF papillary thyroid 29 34 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799160 212799160 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:212799160G>T ENST00000294829.3 + 1 1372 c.941G>T c.(940-942)gGg>gTg p.G314V RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 314 Ala-rich. p.G314V(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GCCATAGCTGGGGCGGCCACC 0.642000 11 62 5.61819e-17 6.80368e-17 1 1 0 OR14A16 284532 broad.mit.edu 37 1 247978341 247978341 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:247978341C>T ENST00000357627.1 - 1 690 c.691G>A c.(691-693)Ggc>Agc p.G231S NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G231S(2) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TTTGACTGGCCTTCTGTGGAA 0.413000 18 48 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133256576 133256576 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:133256576T>C ENST00000320574.5 - 5 430 c.387A>G c.(385-387)gcA>gcG p.A129A POLE_ENST00000535270.1_Silent_p.A102A NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 129 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.A129A(4) 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) TCTCCACTTTTGCAATTTTGC 0.448000 DNA polymerases (catalytic subunits) 46 92 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616138 248616138 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:248616138G>A ENST00000342927.3 + 1 62 c.40G>A c.(40-42)Gtc>Atc p.V14I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V14S(2) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CACTAACTTCGTCCTCACAGG 0.507000 39 199 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43359724 43359724 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:43359724C>A ENST00000401467.2 - 1 119 c.48G>T c.(46-48)aaG>aaT p.K16N PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 16 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCAGGACCCCCTTCCATTTGA 0.572000 178 162 2.29391e-76 3.64815e-76 1 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357646 118357646 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:118357646C>T ENST00000528052.1 + 8 853 c.782C>T c.(781-783)tCt>tTt p.S261F PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S261F|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S261F P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 261 lipid metabolic process calcium ion binding|triglyceride lipase activity p.S261F(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AATGCCCTGTCTCAGATCGTG 0.527000 26 41 0 0 1 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239890 135239890 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:135239890G>A ENST00000265605.2 - 7 1195 c.1127C>T c.(1126-1128)aCg>aTg p.T376M ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T322M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T326M NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 376 retinal metabolic process cytoplasm retinal dehydrogenase activity p.T376M(4) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TGTTATCACCGTGGGAAGCAT 0.502000 46 225 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433035 55433035 + Silent SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:55433035G>C ENST00000314259.3 + 1 422 c.393G>C c.(391-393)acG>acC p.T131T NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T131T(2) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGCACTACACGATCATCATGA 0.512000 36 119 0 0 1 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51279140 51279140 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:51279140G>A ENST00000551456.1 + 4 809 c.764G>A c.(763-765)gGt>gAt p.G255D TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G255D Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 255 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity p.G255D(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 TTTTGTGCAGGTGATGAAGAT 0.363000 59 179 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048560 6048560 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:6048560C>A ENST00000316650.5 - 1 411 c.375G>T c.(373-375)atG>atT p.M125I NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M125I(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTCATAGGCCATGACCATAA 0.502000 41 94 9.73076e-26 1.29743e-25 1 1 0 GHRHR 2692 broad.mit.edu 37 7 31013682 31013682 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:31013682T>A ENST00000409904.3 + 4 746 c.488T>A c.(487-489)cTg>cAg p.L163Q GHRHR_ENST00000326139.2_Missense_Mutation_p.L227Q|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_3'UTR Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 227 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding p.L227Q(2) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GCCGTCTACCTGAACTGCCTC 0.632000 83 230 0 0 1 0 0 NKX6-1 4825 broad.mit.edu 37 4 85414499 85414499 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:85414499G>C ENST00000295886.4 - 3 1268 c.1047C>G c.(1045-1047)agC>agG p.S349R NKX6-1_ENST00000515820.2_Missense_Mutation_p.S75R NM_006168.2 NP_006159.2 P78426 NKX61_HUMAN NK6 homeobox 1 349 Involved in DNA-binding (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus p.S349R(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 15 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) CGCCGCCGCTGCTGGACTTGT 0.652000 28 84 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161976113 161976113 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:161976113C>A ENST00000294794.3 - 4 1120 c.697G>T c.(697-699)Gca>Tca p.A233S OLFML2B_ENST00000367940.2_Missense_Mutation_p.A233S NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 233 Poly-Ala. p.A233S(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTGCTGCTGCATCCCTCTGC 0.527000 88 220 2.5264e-35 3.62484e-35 1 1 0 LINC00842 643650 broad.mit.edu 37 10 47133423 47133423 + RNA SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:47133423T>A ENST00000422732.2 - 0 435 NR_033957.1 TAGGCCTCCATTGCCACAGGG 0.453000 41 248 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144805 25144805 + RNA SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr13:25144805C>A ENST00000453498.1 + 0 346 GGGTCCTGGTCCTGCCATGGG 0.463000 13 61 2.31682e-05 2.40804e-05 1 1 0 KAT2B 8850 broad.mit.edu 37 3 20167606 20167606 + Splice_Site SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:20167606G>T ENST00000263754.4 + 10 2077 c.e10+1 NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding p.?(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TCTTTGACCCGTAAGTGGTAC 0.448000 8 21 5.18039e-06 5.42708e-06 1 1 0 GPR142 350383 broad.mit.edu 37 17 72368476 72368476 + Missense_Mutation SNP G G C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:72368476G>C ENST00000335666.4 + 4 1174 c.1126G>C c.(1126-1128)Gtc>Ctc p.V376L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 376 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.V376L(2)|p.V376I(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCGGGTCTTCGTCATGCTCTA 0.662000 110 228 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 7 85 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102508881 102508881 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:102508881A>G ENST00000321521.9 + 20 2882 c.2309A>G c.(2308-2310)gAa>gGa p.E770G PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E770G|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E770G|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 770 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.E770G(2) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACTAAAGCTGAAAAACTGGAG 0.338000 13 8 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686420 108686420 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:108686420A>G ENST00000397688.2 - 3 683 c.314T>C c.(313-315)tTc>tCc p.F105S CMKLR1_ENST00000552995.1_Missense_Mutation_p.F105S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000312143.7_Missense_Mutation_p.F107S NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 107 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.F105S(2) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GGCTGTCCCGAAAACCCAGTG 0.517000 50 123 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145608466 145608466 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:145608466C>T ENST00000334163.3 - 3 501 c.341G>A c.(340-342)gGc>gAc p.G114D POLR3C_ENST00000369294.1_Missense_Mutation_p.G114D|POLR3C_ENST00000471254.1_5'UTR NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 114 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TGTCAGTTTGCCGTTCAACAG 0.463000 5 203 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55129867 55129867 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:55129867C>T ENST00000257290.5 + 4 732 c.401C>T c.(400-402)aCg>aTg p.T134M FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.T134M NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 134 Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.T134M(2) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTAGGAATGACGGATTATTTA 0.408000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 47 102 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947310 237947310 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:237947310G>A ENST00000366574.2 + 90 12615 c.12298G>A c.(12298-12300)Gtc>Atc p.V4100I RYR2_ENST00000360064.6_Missense_Mutation_p.V4106I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4084I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4100 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.V4098I(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) CAACGTCGCCGTCCTTCTGAC 0.502000 5 52 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39620561 39620561 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:39620561C>A ENST00000225899.3 - 4 946 c.843G>T c.(841-843)agG>agT p.R281S NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 281 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity p.R281S(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CCTCCACGTCCCTGCGGTTGG 0.617000 55 119 9.53978e-28 1.30492e-27 1 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140719811 140719811 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:140719811A>G ENST00000394576.2 + 1 1273 c.1273A>G c.(1273-1275)Aaa>Gaa p.K425E PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.K425E(4) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAACCGCTAAAGATGGAGG 0.488000 52 128 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34648810 34648810 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:34648810T>C ENST00000537011.1 + 8 2983 c.2601T>C c.(2599-2601)ggT>ggC p.G867G NUTM1_ENST00000333756.4_Silent_p.G839G|NUTM1_ENST00000438749.3_Silent_p.G857G NUT midline carcinoma, family member 1 p.G839G(2) GGGCAGAAGGTTGCTTCCCAT 0.522000 15 103 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74716538 74716538 + Missense_Mutation SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:74716538G>A ENST00000532963.1 + 2 302 c.175G>A c.(175-177)Gag>Aag p.E59K NEU3_ENST00000544263.1_Silent_p.K96K|NEU3_ENST00000529024.1_Missense_Mutation_p.E59K|NEU3_ENST00000545272.1_Silent_p.K20K|NEU3_ENST00000531509.1_Silent_p.K129K|NEU3_ENST00000294064.4_Silent_p.K129K A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 0 p.K129K(4) kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GGGAGCAGAAGAGTGGTTGTG 0.562000 31 55 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531939 92531939 + Nonsense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:92531939C>G ENST00000298047.6 + 9 5777 c.5760C>G c.(5758-5760)taC>taG p.Y1920* FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1770*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1920* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1920 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Y1920*(4) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AACTGACATACAGCCTAATGG 0.418000 TCGA Ovarian(4;0.039) 23 50 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67300882 67300882 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:67300882T>C ENST00000392676.3 - 7 922 c.858A>G c.(856-858)acA>acG p.T286T ABCA5_ENST00000392677.2_Silent_p.T286T|ABCA5_ENST00000588877.1_Silent_p.T286T Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 286 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity p.T286T(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) ACAAAGAAGCTGTCGCAATGA 0.323000 18 45 0 0 1 0 0 RHEBL1 121268 broad.mit.edu 37 12 49463563 49463563 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:49463563C>A ENST00000301068.6 - 1 245 c.6G>T c.(4-6)ccG>ccT p.P2P NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 2 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding p.P2P(2) breast(2)|large_intestine(2)|lung(5) 9 AGCGGACTAGCGGCATGGCAG 0.647000 23 42 4.4004e-07 4.64682e-07 1 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254445 30254445 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:30254445C>A ENST00000361644.2 + 5 1141 c.404C>A c.(403-405)gCa>gAa p.A135E MAGEB3_ENST00000378986.1_Missense_Mutation_p.A135E NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 135 MAGE. p.A135E(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 ATTATGAAAGCAGATATGCTA 0.383000 38 103 6.1244e-12 6.96915e-12 1 1 0 EMR1 2015 broad.mit.edu 37 19 6935052 6935052 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:6935052A>T ENST00000312053.4 + 18 2381 c.2344A>T c.(2344-2346)Agt>Tgt p.S782C EMR1_ENST00000450315.3_Missense_Mutation_p.S605C|EMR1_ENST00000381404.4_Missense_Mutation_p.S763C|EMR1_ENST00000381407.5_Missense_Mutation_p.S641C|EMR1_ENST00000250572.8_Missense_Mutation_p.S717C NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 782 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.S782C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GAGGCTTTCCAGTGTTAATGC 0.468000 47 173 0 0 1 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84564036 84564036 + RNA SNP C C A rs34475432 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr9:84564036C>A ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA CAGCAGGAGCCCAGGGTCCCT 0.522000 3 8 0.004672 0.0047257 1 1 0 ARHGAP25 9938 broad.mit.edu 37 2 69034512 69034512 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:69034512G>T ENST00000295381.3 + 5 990 c.571G>T c.(571-573)Ggc>Tgc p.G191C ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192C NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 191 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.G185C(2)|p.G192C(2) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CCTGGAGCACGGCCGGAATGA 0.582000 54 136 1.59911e-31 2.21029e-31 1 1 0 RMND5A 64795 broad.mit.edu 37 2 86997154 86997154 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:86997154C>G ENST00000283632.4 + 7 1358 c.863C>G c.(862-864)gCa>gGa p.A288G RMND5A_ENST00000472843.1_3'UTR NM_022780.3 NP_073617.1 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog A (S. cerevisiae) 288 p.A288G(2) kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 AGTTTCTCAGCAGGTTGTGTG 0.502000 151 313 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202593271 202593271 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:202593271C>A ENST00000264276.6 - 15 3177 c.2805G>T c.(2803-2805)tgG>tgT p.W935C ALS2_ENST00000457679.2_Missense_Mutation_p.W247C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 935 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity p.W935C(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AGAGAATGAACCAATTCACGG 0.483000 171 121 4.34395e-57 6.82621e-57 1 1 0 CPS1 1373 broad.mit.edu 37 2 211473091 211473091 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:211473091A>G ENST00000233072.5 + 19 2395 c.2199A>G c.(2197-2199)ccA>ccG p.P733P CPS1_ENST00000451903.2_Silent_p.P282P|CPS1_ENST00000430249.2_Silent_p.P739P NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 733 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.P739P(2)|p.P733P(2) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATAGCTACCCATTGGCATTCA 0.363000 64 37 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5411400 5411400 + Missense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:5411400T>A ENST00000328611.3 + 1 794 c.772T>A c.(772-774)Tgt>Agt p.C258S AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 258 integral to membrane olfactory receptor activity p.C258S(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGCTCCTCTCTGTGCTGTGCT 0.562000 22 125 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711455 195711455 + RNA SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:195711455C>A ENST00000427841.1 - 0 492 NR_003264.2 CAGAGCCTCCCGCCCATCACC 0.567000 8 94 1.02788e-11 1.15473e-11 1 1 0 ELAVL2 1993 broad.mit.edu 37 9 23701585 23701585 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr9:23701585C>A ENST00000397312.2 - 5 779 c.505G>T c.(505-507)Ggg>Tgg p.G169W ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198W|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169W NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 169 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.G169W(2) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CGAATAAACCCTACACCCCTT 0.433000 41 55 6.33695e-27 8.62348e-27 1 1 0 MUC17 140453 broad.mit.edu 37 7 100681561 100681561 + Missense_Mutation SNP C C G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:100681561C>G ENST00000306151.4 + 3 6928 c.6864C>G c.(6862-6864)caC>caG p.H2288Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2288 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.H2288Q(2) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTCAGCCACACGCTGGTGG 0.478000 132 260 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189527 53189527 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:53189527G>T ENST00000417996.2 - 1 374 c.300C>A c.(298-300)ggC>ggA p.G100G KRT3_ENST00000309505.3_Silent_p.G100G NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 100 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.G100G(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 cacctccatagccgctcccaa 0.652000 68 136 6.75472e-32 9.48535e-32 1 1 0 KRT85 3891 broad.mit.edu 37 12 52761049 52761049 + Silent SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:52761049C>T ENST00000257901.3 - 1 216 c.141G>A c.(139-141)ggG>ggA p.G47G NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 47 Head. epidermis development keratin filament protein binding|structural molecule activity p.G47G(2) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCCGTCAGCCCTCGGTAGC 0.682000 14 35 0 0 1 0 0 AVPR2 554 broad.mit.edu 37 X 153171455 153171455 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:153171455C>A ENST00000358927.2 + 3 704 c.495C>A c.(493-495)gcC>gcA p.A165A AVPR2_ENST00000370049.1_Silent_p.A165A|AVPR2_ENST00000337474.5_Silent_p.A165A P30518 V2R_HUMAN arginine vasopressin receptor 2 165 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity p.A165A(2)|p.L168fs*41(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TGGCTTGGGCCTTCTCGCTCC 0.662000 40 88 9.8876e-21 1.26103e-20 1 1 0 IHH 3549 broad.mit.edu 37 2 219920175 219920175 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:219920175G>A ENST00000295731.5 - 3 989 c.990C>T c.(988-990)gcC>gcT p.A330A NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 330 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity p.A330A(2) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGAGCGGGGCGTAGGCCC 0.682000 60 38 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65077169 65077169 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:65077169A>G ENST00000380985.5 + 6 921 c.743A>G c.(742-744)tAt>tGt p.Y248C NLN_ENST00000502464.1_Missense_Mutation_p.Y144C NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 248 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity p.Y248C(2) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TATCCACACTATTTCCCTGTC 0.328000 48 45 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17643134 17643134 + Silent SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:17643134G>T ENST00000335393.4 + 4 480 c.342G>T c.(340-342)cgG>cgT p.R114R FAM129C_ENST00000599164.1_Silent_p.R83R|FAM129C_ENST00000300971.2_Silent_p.R114R|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Silent_p.R114R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000600871.1_Silent_p.R60R|FAM129C_ENST00000332386.5_Silent_p.R114R|FAM129C_ENST00000595684.1_Silent_p.R114R|FAM129C_ENST00000599124.1_Silent_p.R83R|FAM129C_ENST00000601861.1_Silent_p.R83R NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 114 p.R114R(4) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 ACCCACCCCGGTGGCAGCCGA 0.647000 29 112 1.57351e-24 2.07704e-24 1 1 0 GRAMD1A 57655 broad.mit.edu 37 19 35500129 35500129 + Missense_Mutation SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:35500129A>G ENST00000599564.1 + 3 447 c.376A>G c.(376-378)Acc>Gcc p.T126A GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T39A|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000504615.2_5'UTR Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 39 GRAM. integral to membrane p.T39A(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGAACCAGGCACCATGGTGGA 0.662000 58 40 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173255 5173255 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:5173255G>A ENST00000380367.1 - 2 762 c.345C>T c.(343-345)ggC>ggT p.G115G OR52A1_ENST00000328942.1_Silent_p.G115G Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 115 sensory perception of smell integral to plasma membrane olfactory receptor activity p.G115G(2) breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACAAGGATGCCTGACTCTA 0.448000 13 33 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48726111 48726111 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:48726111G>A ENST00000328631.5 - 6 1099 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 292 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.F292F(4) biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CATTGTGGAAGAACTGGAAAA 0.562000 33 181 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43907004 43907004 + Silent SNP T T C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:43907004T>C ENST00000562955.1 + 52 7293 c.7293T>C c.(7291-7293)ggT>ggC p.G2431G SZT2_ENST00000372442.1_Silent_p.G1589G NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2488 peroxisome p.G1589G(4)|p.G2431G(2) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGACTCCTGGTGGAGCTGAGC 0.572000 195 102 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28326973 28326973 + Silent SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:28326973C>A ENST00000354638.3 - 2 203 c.48G>T c.(46-48)gcG>gcT p.A16A OCA2_ENST00000353809.5_Silent_p.A16A|OCA2_ENST00000382996.2_Silent_p.A16A NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 16 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.A16A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GGAGCTCCACCGCCGGCGCGC 0.662000 Oculocutaneous Albinism 20 18 3.51602e-12 4.0183e-12 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22154060 22154060 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:22154060C>A ENST00000397126.4 - 4 3924 c.3776G>T c.(3775-3777)gGc>gTc p.G1259V ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.G1131V(4)|p.G1259V(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAGGCTTTGCCACATTCTTC 0.378000 9 35 0.00448238 0.00455134 1 1 0 CXorf61 203413 broad.mit.edu 37 X 115593061 115593061 + Silent SNP A A G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:115593061A>G ENST00000371894.4 - 2 335 c.189T>C c.(187-189)tcT>tcC p.S63S NM_001017978.2 NP_001017978.1 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 63 integral to membrane|plasma membrane p.S63S(3) breast(1)|large_intestine(3)|lung(8) 12 AAATATCCCGAGAGAGGTCGT 0.403000 85 167 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54742922 54742922 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:54742922C>A ENST00000396365.2 - 8 1392 c.1353G>T c.(1351-1353)atG>atT p.M451I LILRA6_ENST00000245621.5_Missense_Mutation_p.M434I|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron NM_024318.2 NP_077294.2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 p.M451I(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGCCATGCCCATGCGGATGA 0.577000 26 40 2.04263e-09 2.22833e-09 1 1 0 WRAP53 55135 broad.mit.edu 37 17 7592605 7592605 + Silent SNP C C T rs147817526 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:7592605C>T ENST00000316024.5 + 2 2843 c.495C>T c.(493-495)agC>agT p.S165S WRAP53_ENST00000431639.2_Silent_p.S165S|WRAP53_ENST00000457584.2_Silent_p.S165S|WRAP53_ENST00000396463.2_Silent_p.S165S|WRAP53_ENST00000534050.1_Intron Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 165 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding p.S165S(2) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 CAGAGTTCAGCACCCAACCTG 0.517000 54 66 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98449098 98449098 + Missense_Mutation SNP C C T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:98449098C>T ENST00000450876.1 - 6 2015 c.700G>A c.(700-702)Gag>Aag p.E234K TMEM130_ENST00000416379.2_Missense_Mutation_p.E318K|TMEM130_ENST00000339375.4_Missense_Mutation_p.E318K|TMEM130_ENST00000546258.1_Missense_Mutation_p.E299K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E216K Q8N3G9 TM130_HUMAN transmembrane protein 130 318 Golgi membrane|integral to membrane p.E318K(2) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATGATATTCTCGGCCCGGATG 0.592000 64 110 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181480554 181480554 + Silent SNP G G A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:181480554G>A ENST00000526775.1 + 3 585 c.420G>A c.(418-420)ggG>ggA p.G140G CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.G140G|CACNA1E_ENST00000367573.2_Silent_p.G140G|CACNA1E_ENST00000357570.5_Silent_p.G91G|CACNA1E_ENST00000367570.1_Silent_p.G140G|CACNA1E_ENST00000358338.5_Silent_p.G91G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 140 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.G140G(4) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGAAGCTGGGATCAAAATTG 0.493000 174 384 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171257993 171257993 + Missense_Mutation SNP G G T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:171257993G>T ENST00000334231.6 + 18 1948 c.1948G>T c.(1948-1950)Gcc>Tcc p.A650S MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A641S|MYO3B_ENST00000408978.4_Missense_Mutation_p.A641S Q8WXR4 MYO3B_HUMAN myosin IIIB 641 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity p.A641S(4) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTTTCAGCTGCCTCTGTTCT 0.502000 56 38 4.32865e-36 6.31361e-36 1 1 0 TNR 7143 broad.mit.edu 37 1 175331945 175331945 + Splice_Site SNP A A C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:175331945A>C ENST00000367674.1 - 14 3416 c.2707_splice c.e14-1 p.V903_splice TNR_ENST00000263525.2_Splice_Site_p.V903_splice NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 903 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.V903G(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TAGTCGTCCCACTGGAGAAGA 0.488000 53 137 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10910395 10910395 + Missense_Mutation SNP A A T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr21:10910395A>T ENST00000298232.7 - 21 1674 c.1307T>A c.(1306-1308)cTt>cAt p.L436H TPTE_ENST00000342420.5_Missense_Mutation_p.L416H|TPTE_ENST00000361285.4_Missense_Mutation_p.L454H|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 454 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L436H(2)|p.L454H(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AATGTTATCAAGTACCTATGA 0.323000 26 106 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Missense_Mutation SNP C C A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:7578469C>A ENST00000420246.2 - 5 593 c.461G>T c.(460-462)gGc>gTc p.G154V TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 154 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and 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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(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) GACGCGGGTGCCGGGCGGGGG 0.607000 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) 45 64 1.47857e-17 1.80715e-17 1 1 0 MKI67 4288 broad.mit.edu 37 10 129904904 129904904 + Nonsense_Mutation SNP T T A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:129904904T>A ENST00000368654.3 - 13 5575 c.5200A>T c.(5200-5202)Aaa>Taa p.K1734* MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1374* NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1734 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding p.K1734*(2) 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) TAGGATACTTTGGTAGTTTTT 0.488000 55 75 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12422832 12422833 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:12422832_12422833insC ENST00000358136.3 + 51 10328_10329 c.10198_10199insC c.(10198-10200)cccfs p.P3400fs VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3399 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTCATCTTTGCCCCCCGTTAC 0.426 16 1195 --- --- --- --- PRAMEF6 440561 broad.mit.edu 37 1 13109019 13109020 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:13109019_13109020insG ENST00000376182.1 - 4 1348_1349 c.1249_1250insC c.(1249-1251)ggafs p.G417fs PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs Q5VXH4 PRAM6_HUMAN PRAME family member 6 417 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATAACTCTCCCGGGGGGCAGGA 0.520 8 530 --- --- --- --- NBPF1 55672 broad.mit.edu 37 1 16901653 16901654 + Splice_Site INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:16901653_16901654insG ENST00000430580.2 - 20 3077_3078 c.2192_splice c.e20+1 p.PG730_splice NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 730 NBPF 3. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAGTGTTACCTGGGGGCAGACG 0.431 14 4017 --- --- --- --- NBPF1 55672 broad.mit.edu 37 1 16914221 16914222 + Splice_Site INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:16914221_16914222insG ENST00000430580.2 - 10 1451_1452 c.566_splice c.e10+1 p.PG188_splice NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 188 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAGTGTTACCTGGGGGCAGATG 0.441 9 4060 --- --- --- --- IGSF21 84966 broad.mit.edu 37 1 18554419 18554420 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:18554419_18554420insC ENST00000251296.1 + 2 481_482 c.98_99insC c.(97-99)cccfs p.P33fs NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 33 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ATTGAGCCTCTCCCCCCTGTGG 0.574 11 712 --- --- --- --- NBPF3 84224 broad.mit.edu 37 1 21804665 21804666 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:21804665_21804666insC ENST00000318220.6 + 12 1901_1902 c.853_854insC c.(853-855)cccfs p.P285fs NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 341 NBPF 1. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGAGGAGGAAGCCCCCCAGGAG 0.500 8 743 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G rs140055856 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:27105930_27105931insG ENST00000324856.7 + 20 5912_5913 c.5541_5542insG c.(5539-5544)ggggggfs p.GG1847fs ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1847 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.G1848fs*6(3) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACAC 0.579 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 12 508 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 18 745 --- --- --- --- KHDRBS1 10657 broad.mit.edu 37 1 32503458 32503459 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:32503458_32503459insG ENST00000327300.7 + 6 1095_1096 c.928_929insG c.(928-930)gggfs p.G310fs KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 310 Arg/Gly-rich. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGGACCACCTCGGGGGGCTTTG 0.500 8 471 --- --- --- --- IQCC 55721 broad.mit.edu 37 1 32673442 32673443 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:32673442_32673443insG ENST00000537469.1 + 5 1447_1448 c.1400_1401insG c.(1399-1401)tggfs p.W467fs IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 387 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GATGGTACCTTGGGGGGGCCAG 0.550 8 201 --- --- --- --- AGO1 26523 broad.mit.edu 37 1 36359331 36359332 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:36359331_36359332insG ENST00000373204.4 + 5 782_783 c.569_570insG c.(568-570)cggfs p.R190fs AGO1_ENST00000373206.1_Frame_Shift_Ins_p.R115fs NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TACCACCCGCTGGGGGGTGGGC 0.634 7 241 --- --- --- --- CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:36935322_36935323insG ENST00000373103.1 - 11 1951_1952 c.1404_1405insC c.(1402-1407)ccgcgcfs p.R469fs CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 469 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 11 310 --- --- --- --- HIVEP3 59269 broad.mit.edu 37 1 42049248 42049249 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:42049248_42049249insG ENST00000372584.1 - 3 2234_2235 c.1220_1221insC c.(1219-1221)caafs p.Q407fs HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.Q407fs NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 407 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding 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) CGTTGGTGTTTGGGGGGCTGAC 0.594 11 355 --- --- --- --- ZMYND12 84217 broad.mit.edu 37 1 42898878 42898879 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:42898878_42898879insG ENST00000372565.3 - 7 1179_1180 c.910_911insC c.(910-912)aaafs p.K304fs ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 304 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGTTTTTTGGGGGGCTTTG 0.411 10 722 --- --- --- --- KDM4A 9682 broad.mit.edu 37 1 44156564 44156565 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:44156564_44156565insC ENST00000372396.3 + 14 2220_2221 c.2086_2087insC c.(2086-2088)cccfs p.P696fs NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 696 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 TTCAGATTTAGCCCCCCAGAAG 0.470 11 683 --- --- --- --- RNF220 55182 broad.mit.edu 37 1 44878032 44878033 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:44878032_44878033insC ENST00000355387.2 + 2 713_714 c.263_264insC c.(262-264)tccfs p.S88fs RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs Q5VTB9 RN220_HUMAN ring finger protein 220 88 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 AATCGTGATTTCCCCCCTTCTC 0.515 8 920 --- --- --- --- PIK3R3 8503 broad.mit.edu 37 1 46546323 46546324 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:46546323_46546324insC ENST00000262741.5 - 2 894_895 c.205_206insG c.(205-207)tatfs p.Y69fs PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 69 SH2 1. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) CCTTGAAATATCCCCCCAGTAC 0.381 9 1587 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65325832 65325833 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:65325832_65325833insG ENST00000342505.4 - 9 1537_1538 c.1289_1290insC c.(1288-1290)cttfs p.L430fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 430 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGACGATCAACGGGGGGGCCAC 0.540 Mis ALL 11 210 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:89613321_89613322insC ENST00000294671.2 - 8 1431_1432 c.1293_1294insG c.(1291-1296)ggacaafs p.Q432fs NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 10 210 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 24 407 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103352560 103352561 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:103352560_103352561insT ENST00000358392.2 - 63 5013_5014 c.4696_4697insA c.(4696-4698)gagfs p.E1566fs COL11A1_ENST00000370096.3_Frame_Shift_Ins_p.E1554fs|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.E1438fs|COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.E1515fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1554 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 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) ATGTCTTCTCGTTTTTTTGGAG 0.386 7 227 --- --- --- --- OVGP1 5016 broad.mit.edu 37 1 111959046 111959047 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:111959046_111959047insC ENST00000369732.3 - 10 1109_1110 c.1054_1055insG c.(1054-1056)catfs p.H352fs OVGP1_ENST00000540696.1_3'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 352 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CCACACCATGGCCCCCCCAAAA 0.505 25 491 --- --- --- --- ITGA10 8515 broad.mit.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C rs147270843 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:145534121_145534122insC ENST00000369304.3 + 14 1801_1802 c.1626_1627insC c.(1624-1629)gaccccfs p.DP542fs ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 542 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCAGCCAGAACCCCCCCAGGA 0.554 15 397 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145584022 145584023 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:145584022_145584023insC ENST00000393045.2 + 10 1343_1344 c.1253_1254insC c.(1252-1254)tccfs p.S418fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 418 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTGAGGTTTGCCCCCCGCCAG 0.500 11 543 --- --- --- --- RFX5 5993 broad.mit.edu 37 1 151318740 151318741 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:151318740_151318741insG ENST00000290524.4 - 3 234_235 c.56_57insC c.(55-57)cggfs p.R19fs RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCACCACCTGGGGGGGCCCT 0.554 10 328 --- --- --- --- KPRP 448834 broad.mit.edu 37 1 152732677 152732678 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:152732677_152732678insC ENST00000368773.1 + 2 671_672 c.613_614insC c.(613-615)cccfs p.P205fs KPRP_ENST00000606109.1_Frame_Shift_Ins_p.P205fs NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 205 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAACAACTACACCCCCCAGTTC 0.574 14 525 --- --- --- --- PGLYRP4 57115 broad.mit.edu 37 1 153317810 153317811 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:153317810_153317811insC ENST00000368739.3 - 4 533_534 c.175_176insG c.(175-177)agafs p.R59fs PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 63 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 breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AACAGCTTCTGCCCCCCATGCC 0.589 7 784 --- --- --- --- S100A8 6279 broad.mit.edu 37 1 153362604 153362605 + Frame_Shift_Ins INS - - T rs150732741 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:153362604_153362605insT ENST00000368733.3 - 3 425_426 c.256_257insA c.(256-258)ccafs p.P86fs S100A8_ENST00000368732.1_Frame_Shift_Ins_p.P86fs NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 86 VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TTCTTCATGGCTTTTTTTGTGG 0.480 7 317 --- --- --- --- TDRD10 126668 broad.mit.edu 37 1 154493907 154493908 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:154493907_154493908insC ENST00000368482.4 + 6 1159_1160 c.321_322insC c.(319-324)agccccfs p.SP107fs TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 107 RRM. nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CAAGCAAAAGGCCCCCCAAGAG 0.520 8 483 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158577072 158577073 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:158577072_158577073insC ENST00000361284.1 + 1 844_845 c.844_845insC c.(844-846)cccfs p.P282fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TACTGTAGTGACCCCCCTCCTT 0.460 10 1675 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158596702 158596702 + Frame_Shift_Del DEL C C - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:158596702delC ENST00000368148.3 - 41 5940 c.5760delG c.(5758-5760)tgfs p.W1920fs SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Frame_Shift_Del_p.W1917fs NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1920 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATTGCAACTTCCAAGCAGCTA 0.463 205 424 --- --- --- --- IGSF9 57549 broad.mit.edu 37 1 159904586 159904587 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:159904586_159904587insG ENST00000368094.1 - 7 896_897 c.699_700insC c.(697-702)ccagaafs p.E234fs IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 234 Ig-like 3. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGCTGTTCTTGGGGGGCACCA 0.569 8 290 --- --- --- --- IGSF8 93185 broad.mit.edu 37 1 160063924 160063925 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:160063924_160063925insG ENST00000368086.1 - 3 695_696 c.479_480insC c.(478-480)cggfs p.R160fs IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Frame_Shift_Ins_p.R160fs Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 160 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTCGGGGCCCTGGGGGGGCAGC 0.653 7 37 --- --- --- --- RCSD1 92241 broad.mit.edu 37 1 167654710 167654711 + Frame_Shift_Ins INS - - C rs144007158 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:167654710_167654711insC ENST00000367854.3 + 3 492_493 c.161_162insC c.(160-162)tccfs p.S54fs RCSD1_ENST00000537350.1_Intron NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 54 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CTCCCCCTGTTCCCCCCCAAGG 0.554 10 177 --- --- --- --- FMO1 2326 broad.mit.edu 37 1 171227337 171227338 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:171227337_171227338insG ENST00000354841.4 + 1 242_243 c.111_112insG c.(109-114)ctggggfs p.LG37fs FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs Q01740 FMO1_HUMAN flavin containing monooxygenase 1 37 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCGATGACCTTGGGGGGCTGTG 0.530 8 385 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176762723 176762724 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:176762723_176762724insC ENST00000367662.3 + 20 6212_6213 c.5048_5049insC c.(5047-5049)accfs p.T1683fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTGTGTGTAATCCCCCCCAGTG 0.470 11 583 --- --- --- --- DHX9 1660 broad.mit.edu 37 1 182852697 182852698 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:182852697_182852698insC ENST00000367549.3 + 26 3297_3298 c.3187_3188insC c.(3187-3189)cccfs p.P1063fs DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1063 T -> P (in Ref. 1; AAB48855 and 2; CAA71668). CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GACTTTAGTCACCCCCCTGCAG 0.441 8 503 --- --- --- --- NAV1 89796 broad.mit.edu 37 1 201779175 201779176 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:201779175_201779176insC ENST00000367296.4 + 23 4923_4924 c.4503_4504insC c.(4501-4506)gaccccfs p.DP1501fs NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1501 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TGGATGCAGAGCCCCCCGAGAT 0.525 13 352 --- --- --- --- TMEM81 388730 broad.mit.edu 37 1 205052693 205052694 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:205052693_205052694insC ENST00000367167.3 - 1 951_952 c.755_756insG c.(754-756)gctfs p.A252fs NM_203376.1 NP_976310.1 Q6P7N7 TMM81_HUMAN transmembrane protein 81 252 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) ACTGCTGCAGGCCCCCCCTTAG 0.540 9 263 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:207642043_207642044insC ENST00000367057.3 + 3 806_807 c.617_618insC c.(616-618)gccfs p.A206fs CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACAT 0.396 16 605 --- --- --- --- ROCK2 9475 broad.mit.edu 37 2 11389836 11389837 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:11389836_11389837insA ENST00000315872.6 - 4 860_861 c.412_413insT c.(412-414)ggafs p.G138fs ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 138 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TCTTTCTTCCCAAAAAAAGGCA 0.356 7 791 --- --- --- --- HK2 3099 broad.mit.edu 37 2 75104377 75104378 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:75104377_75104378insG ENST00000290573.2 + 8 1560_1561 c.960_961insG c.(958-963)ttggggfs p.LG320fs HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 320 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 AGCTGCTCTTTGGGGGGAAGCT 0.545 8 688 --- --- --- --- USP39 10713 broad.mit.edu 37 2 85866422 85866423 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:85866422_85866423insC ENST00000323701.6 + 9 1202_1203 c.1192_1193insC c.(1192-1194)cccfs p.P398fs USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 398 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CCTTCCTACTGCCCCCCTCTAC 0.505 7 423 --- --- --- --- LINC00152 112597 broad.mit.edu 37 2 87865524 87865525 + RNA INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:87865524_87865525insC ENST00000409054.1 + 0 278 NR_015395.1 AAAATAAATTTCCCCCCAGAAC 0.455 12 751 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133541083 133541084 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:133541083_133541084insG ENST00000409261.1 - 14 3673_3674 c.3300_3301insC c.(3298-3303)ccagccfs p.A1101fs NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1101 Ser-rich. protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAGGAAGGCTTGGGGGGTGTGG 0.505 13 779 --- --- --- --- KCNH7 90134 broad.mit.edu 37 2 163256860 163256861 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:163256860_163256861insC ENST00000332142.5 - 10 2344_2345 c.2245_2246insG c.(2245-2247)aagfs p.K749fs NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 749 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.A749fs*3(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ACCTTTACTTGCCCCCCGAAAG 0.485 10 426 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:171240258_171240259insC ENST00000334231.6 + 12 1251_1252 c.1251_1252insC c.(1249-1254)aaccccfs p.NP417fs MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 408 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCGCCTCCAATCCCCCCCACAT 0.465 9 377 --- --- --- --- OSBPL6 114880 broad.mit.edu 37 2 179196280 179196281 + Splice_Site INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:179196280_179196281insT ENST00000190611.4 + 6 696_697 c.318_splice c.e6-1 p.L107_splice OSBPL6_ENST00000409631.1_Splice_Site_p.L107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.L107_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.L86_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.L107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000359685.3_Splice_Site_p.L107_splice NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 107 PH. lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTCTTGCAGCGTTTTTTTGTCC 0.361 8 511 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 8 244 --- --- --- --- ALS2 57679 broad.mit.edu 37 2 202588159 202588160 + Frame_Shift_Ins INS - - C rs41309046 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:202588159_202588160insC ENST00000264276.6 - 22 3889_3890 c.3517_3518insG c.(3517-3519)aaafs p.K1173fs ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1173 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CATATACTTTTCCCCCCTGCAC 0.406 7 561 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:207460860_207460861insC ENST00000264377.3 + 24 2661_2662 c.2333_2334insC c.(2332-2334)cccfs p.P778fs ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 778 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.K781fs*3(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGAACCTTCACCCCCCCAAGG 0.455 13 197 --- --- --- --- VIL1 7429 broad.mit.edu 37 2 219301230 219301231 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:219301230_219301231insC ENST00000248444.5 + 16 1940_1941 c.1852_1853insC c.(1852-1854)cccfs p.P618fs VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P307fs NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 618 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGGTCATCACCCCCCGGCTC 0.500 13 379 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226447071 226447072 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:226447071_226447072insC ENST00000272907.6 + 4 1351_1352 c.938_939insC c.(937-939)tccfs p.S313fs NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 313 Pro-rich. TCAGTGCCATGCCCCCCCAAGG 0.619 7 122 --- --- --- --- INPP5D 3635 broad.mit.edu 37 2 234072358 234072359 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:234072358_234072359insC ENST00000359570.5 + 14 1210_1211 c.1210_1211insC c.(1210-1212)cccfs p.P404fs INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 416 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAAGGTAACGCCCCCCCTCCC 0.535 10 440 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 16 465 --- --- --- --- KCTD6 200845 broad.mit.edu 37 3 58486771 58486772 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:58486771_58486772insG ENST00000355076.6 + 2 1109_1110 c.126_127insG c.(124-129)ttggggfs p.LG42fs KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 42 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GAGCTATGTTTGGGGGGGACTT 0.465 17 428 --- --- --- --- GPR156 165829 broad.mit.edu 37 3 119885959 119885960 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:119885959_119885960insC ENST00000464295.1 - 10 2809_2810 c.2364_2365insG c.(2362-2367)ggtggcfs p.G789fs GPR156_ENST00000315843.3_Frame_Shift_Ins_p.G789fs|GPR156_ENST00000461057.1_Frame_Shift_Ins_p.G785fs Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 789 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) CAGGAAGCCAGCCCCCCAGTAG 0.550 7 332 --- --- --- --- IFT122 55764 broad.mit.edu 37 3 129183576 129183577 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:129183576_129183577insG ENST00000296266.3 + 8 860_861 c.668_669insG c.(667-669)cggfs p.R223fs IFT122_ENST00000440957.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000504021.1_Frame_Shift_Ins_p.R125fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.R223fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000348417.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.R120fs NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 172 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.P223P(1) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 ATCGAGCGGCCGGGGGGCTCCC 0.505 7 271 --- --- --- --- PIK3CB 5291 broad.mit.edu 37 3 138413709 138413710 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:138413709_138413710insG ENST00000477593.1 - 13 1883_1884 c.1810_1811insC c.(1810-1812)ggafs p.G604fs PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 604 PI3K helical. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TAGGGCCTCCCGGGGGGGCAGT 0.465 7 121 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:141535707_141535708insG ENST00000264952.2 + 4 1614_1615 c.1477_1478insG c.(1477-1479)gggfs p.G493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCTGAGGTTCGGGGGGTGGAA 0.460 8 719 --- --- --- --- FNDC3B 64778 broad.mit.edu 37 3 172096209 172096210 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:172096209_172096210insC ENST00000336824.4 + 24 3257_3258 c.3158_3159insC c.(3157-3159)gccfs p.A1053fs FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1053 endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACCAAAAGTGTCCCCCCCACCA 0.470 7 191 --- --- --- --- CPEB2 132864 broad.mit.edu 37 4 15067857 15067858 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:15067857_15067858insT ENST00000538197.1 + 12 2958_2959 c.2958_2959insT c.(2956-2961)ccttttfs p.PF986fs CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 541 regulation of translation cytoplasm nucleotide binding|RNA binding p.P541P(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 AATTTGCTCCCTTTTTTTGTGC 0.441 8 968 --- --- --- --- LGI2 55203 broad.mit.edu 37 4 25005320 25005321 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:25005320_25005321insC ENST00000382114.4 - 8 1575_1576 c.1390_1391insG c.(1390-1392)catfs p.H464fs NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 464 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CAGGGTCATGGCCCCCCGGGAT 0.515 7 350 --- --- --- --- CNGA1 1259 broad.mit.edu 37 4 47939171 47939172 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:47939171_47939172insT ENST00000402813.3 - 10 1688_1689 c.1546_1547insA c.(1546-1548)agtfs p.S516fs CNGA1_ENST00000514170.1_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000358519.4_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000420489.2_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000544810.1_Frame_Shift_Ins_p.S447fs P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 447 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 CTCATCAACTGTTTTTTTGTTG 0.327 7 802 --- --- --- --- ABCG2 9429 broad.mit.edu 37 4 89052270 89052271 + Frame_Shift_Ins INS - - T rs150450599 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:89052270_89052271insT ENST00000237612.3 - 5 1018_1019 c.473_474insA c.(472-474)agafs p.R158fs ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 158 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TAATCCGTTCGTTTTTTTCATG 0.426 8 1241 --- --- --- --- HPGDS 27306 broad.mit.edu 37 4 95223320 95223321 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:95223320_95223321insC ENST00000295256.5 - 5 501_502 c.411_412insG c.(409-414)gggagafs p.R138fs NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 138 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) AGCCATTCTCTCCCCCCTAAAT 0.351 11 1130 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96091356 96091357 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:96091356_96091357insG ENST00000453304.1 - 15 2926_2927 c.2578_2579insC c.(2578-2580)gacfs p.D860fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 860 Death. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCCTCTCGTCTGGGGGGCATCC 0.599 9 555 --- --- --- --- C4orf17 84103 broad.mit.edu 37 4 100443777 100443778 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:100443777_100443778insC ENST00000514652.1 + 3 602_603 c.248_249insC c.(247-249)tccfs p.S83fs C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 83 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AATTGCAGTTACCCCTCCAGCA 0.500 15 412 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114280134 114280135 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:114280134_114280135insG ENST00000357077.4 + 38 10413_10414 c.10360_10361insG c.(10360-10362)gggfs p.G3454fs ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3421 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.T3457fs*8(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTTCCTGCAGGGGGGGCACG 0.455 10 191 --- --- --- --- SYNPO2 171024 broad.mit.edu 37 4 119978597 119978598 + Frame_Shift_Ins INS - - C rs140355913 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:119978597_119978598insC ENST00000307142.4 + 5 3490_3491 c.3294_3295insC c.(3292-3297)ccccccfs p.PP1098fs SYNPO2_ENST00000448416.2_Frame_Shift_Ins_p.P100fs NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 756 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GATCAGTCCCACCCCCCATTTC 0.411 12 405 --- --- --- --- FGG 2266 broad.mit.edu 37 4 155526058 155526059 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:155526058_155526059insC ENST00000404648.3 - 9 1528_1529 c.1289_1290insG c.(1288-1290)ggcfs p.G430fs FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 430 Platelet aggregation and Staphylococcus clumping. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CCTGTTTGGCTCCCCCCAGGTG 0.450 12 669 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186515043 186515044 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:186515043_186515044insC ENST00000431808.1 - 20 3693_3694 c.3130_3131insG c.(3130-3132)accfs p.T1044fs SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 1044 SH3 3. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.E1044fs*8(2)|p.E605fs*8(2) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TACTTACGGTTCCCCCCCACCT 0.356 8 199 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187558038 187558039 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr4:187558038_187558039insG ENST00000441802.2 - 5 3881_3882 c.3672_3673insC c.(3670-3675)ccaatcfs p.I1225fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1225 Cadherin 10. 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 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 ATGGTTGATTTGGGGGGACTAC 0.361 HNSCC(5;0.00058) 7 1334 --- --- --- --- MED10 84246 broad.mit.edu 37 5 6372635 6372636 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:6372635_6372636insC ENST00000255764.3 - 4 498_499 c.388_389insG c.(388-390)ggafs p.G130fs NM_032286.2 NP_115662.2 Q9BTT4 MED10_HUMAN mediator complex subunit 10 130 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 CGGGTGATCCTCCCCCCGGATG 0.495 7 456 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:31799656_31799657insG ENST00000438447.1 + 2 689_690 c.301_302insG c.(301-303)gggfs p.G101fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs O15018 PDZD2_HUMAN PDZ domain containing 2 101 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGAAAAGCGCAGGGGGGGCAAG 0.574 8 196 --- --- --- --- FYB 2533 broad.mit.edu 37 5 39202090 39202091 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:39202090_39202091insC ENST00000351578.6 - 2 1162_1163 c.972_973insG c.(970-975)ggcatgfs p.M325fs FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 325 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.P325A(3)|p.P335A(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) TGGCCCCATGGCCCCCCCACTG 0.540 7 222 --- --- --- --- C6 729 broad.mit.edu 37 5 41159256 41159257 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:41159256_41159257insG ENST00000263413.3 - 12 2047_2048 c.1783_1784insC c.(1783-1785)acgfs p.T595fs C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 595 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.Q595K(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCCTCCTCGTTGGGGGGCAGGA 0.500 9 414 --- --- --- --- C6 729 broad.mit.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:41181559_41181560insC ENST00000263413.3 - 7 1092_1093 c.828_829insG c.(826-831)gggctcfs p.L277fs C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 277 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGAAAGAGCTCCCCCCCTGAC 0.376 11 275 --- --- --- --- EPB41L4A 64097 broad.mit.edu 37 5 111519753 111519754 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:111519753_111519754insT ENST00000261486.5 - 18 1857_1858 c.1581_1582insA c.(1579-1584)caccgafs p.HR527fs EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 527 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TTGGGGTCGGCTTGGTTTTTTT 0.431 10 528 --- --- --- --- SEMA6A 57556 broad.mit.edu 37 5 115782764 115782765 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:115782764_115782765insG ENST00000343348.6 - 19 3424_3425 c.2637_2638insC c.(2635-2640)ccaagtfs p.S880fs SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 880 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGTGGAACTTTGGGGGGCAGGC 0.604 7 350 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C rs151053868 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:127610310_127610311insC ENST00000508053.1 - 66 8633_8634 c.7659_7660insG c.(7657-7662)ggttacfs p.Y2554fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs P35556 FBN2_HUMAN fibrillin 2 2554 EGF-like 43; calcium-binding. 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 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) TTACAGGTAAACCCCCCCAGGG 0.421 11 504 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127648336 127648337 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:127648336_127648337insG ENST00000508053.1 - 43 5842_5843 c.4868_4869insC c.(4867-4869)cgtfs p.R1623fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs P35556 FBN2_HUMAN fibrillin 2 1623 TB 6. 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.P1623P(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) TGCTATTGACAGGGGGGCATGT 0.505 11 1429 --- --- --- --- TCF7 6932 broad.mit.edu 37 5 133473764 133473765 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:133473764_133473765insC ENST00000395029.1 + 4 651_652 c.456_457insC c.(454-459)caccccfs p.HP152fs TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 152 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCCAATCAGCCCCCCCACGG 0.574 7 100 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCTGGATCCTCCCCCCAGCGA 0.579 7 383 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336747 141336748 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:141336747_141336748insG ENST00000231484.3 - 1 1879_1880 c.669_670insC c.(667-672)ccagtcfs p.V224fs NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 224 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGACTTGGGGGGGTTCC 0.480 15 291 --- --- --- --- ARHGAP26 23092 broad.mit.edu 37 5 142586762 142586763 + Splice_Site INS - - C rs144777273 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:142586762_142586763insC ENST00000378004.3 + 21 2343_2344 c.e21-1 ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding p.?(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGTCTTGCAGCCCCCCGAATC 0.579 7 366 --- --- --- --- PPP2R2B 5521 broad.mit.edu 37 5 145969651 145969652 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:145969651_145969652insC ENST00000394413.3 - 9 1760_1761 c.1190_1191insG c.(1189-1191)gaafs p.E397fs PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 397 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTCCGCTTGCCCCCCACACA 0.500 8 701 --- --- --- --- FNDC9 408263 broad.mit.edu 37 5 156769909 156769910 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:156769909_156769910insC ENST00000312349.4 - 2 822_823 c.635_636insG c.(634-636)gggfs p.G212fs CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 212 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GTGGGTCACCACCCCCCCTCTG 0.584 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 198 --- --- --- --- GABRA6 2559 broad.mit.edu 37 5 161116011 161116012 + Frame_Shift_Ins INS - - G rs143274925 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:161116011_161116012insG ENST00000523217.1 + 4 494_495 c.252_253insG c.(250-255)ttggggfs p.LG84fs RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 94 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGTTGAAGTTTGGGGGGCCAAC 0.406 TCGA Ovarian(5;0.080) 9 584 --- --- --- --- DOCK2 1794 broad.mit.edu 37 5 169141139 169141140 + Frame_Shift_Ins INS - - G rs34864600 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:169141139_169141140insG ENST00000256935.8 + 18 1847_1848 c.1767_1768insG c.(1765-1770)gtggggfs p.VG589fs DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.VG81fs NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 589 DHR-1. 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 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) CCAGCAGTGTTGGGGGGCTTTC 0.545 9 353 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171517344 171517345 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr5:171517344_171517345insT ENST00000176763.5 - 10 1919_1920 c.1576_1577insA c.(1576-1578)cctfs p.P526fs NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 526 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCGCTTGAGGGTTTTTTTGTAC 0.515 10 1508 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 22 341 --- --- --- --- KIF13A 63971 broad.mit.edu 37 6 17837307 17837308 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:17837307_17837308insC ENST00000378814.5 - 11 955_956 c.956_957insG c.(955-957)gaafs p.E319fs KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 319 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTTGGCTGTTGCCCCCCAAGTT 0.450 11 359 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 20 2420 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30569333 30569334 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:30569333_30569334insG ENST00000376511.2 - 20 3367_3368 c.2815_2816insC c.(2815-2817)gccfs p.A939fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 939 protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TCCCTAGGGCAGGGGGGGCCCA 0.569 10 245 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 17 416 --- --- --- --- GPSM3 63940 broad.mit.edu 37 6 32159157 32159158 + Frame_Shift_Ins INS - - G rs149772913 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:32159157_32159158insG ENST00000375040.3 - 4 860_861 c.468_469insC c.(466-471)cccacafs p.T157fs GPSM3_ENST00000375043.3_Frame_Shift_Ins_p.T157fs|GPSM3_ENST00000487761.1_Frame_Shift_Ins_p.T154fs NM_001276501.1 NP_001263430.1 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 157 signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 CAGGTGTGTGTGGGGGGCCGGG 0.634 7 352 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34791081 34791082 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:34791081_34791082insC ENST00000192788.5 + 4 465_466 c.294_295insC c.(292-297)cgccccfs p.RP98fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 98 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGATCCTCGGCCCCCCAATGG 0.446 8 1327 --- --- --- --- FANCE 2178 broad.mit.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:35425714_35425715insC ENST00000229769.2 + 4 1107_1108 c.922_923insC c.(922-924)cccfs p.P308fs NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 308 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATTGGAGGATGCCCCCCCAGTT 0.540 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 192 --- --- --- --- SLC17A5 26503 broad.mit.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:74351590delA ENST00000355773.5 - 3 617 c.349delT c.(349-351)atfs p.Y117fs SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.Y117fs NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 117 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATGTAGCCATAAAAAAAGGAA 0.423 7 314 --- --- --- --- GJA10 84694 broad.mit.edu 37 6 90605805 90605805 + Frame_Shift_Del DEL A A - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:90605805delA ENST00000369352.1 + 1 1618 c.1618delA c.(1618-1620)aafs p.K540fs NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 540 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) ACATTCAGTTAAATTCAATTC 0.338 23 66 --- --- --- --- PRDM1 639 broad.mit.edu 37 6 106553068 106553069 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:106553068_106553069insA ENST00000369096.4 + 5 1267_1268 c.1033_1034insA c.(1033-1035)aagfs p.K345fs PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.K309fs|PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.K211fs NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 345 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CAGCCCCGACCAAAGCCTCAAG 0.619 """D, N, Mis, F, S""" DLBCL 26 63 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 27 668 --- --- --- --- AHI1 54806 broad.mit.edu 37 6 135784283 135784284 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:135784283_135784284insT ENST00000367800.4 - 6 1126_1127 c.910_911insA c.(910-912)aaafs p.K304fs AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 304 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTTCTTTTTTGTTTTTTTTGGT 0.307 11 313 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 13 309 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161455390 161455391 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:161455390_161455391insC ENST00000392142.4 + 2 400_401 c.252_253insC c.(250-255)tcccccfs p.SP84fs MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.SP84fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.SP84fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.SP84fs NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 84 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ATGGTACCTCTCCCCCCAGCAC 0.475 7 217 --- --- --- --- AGPAT4 56895 broad.mit.edu 37 6 161560588 161560589 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:161560588_161560589insG ENST00000320285.4 - 8 1119_1120 c.907_908insC c.(907-909)gcgfs p.A303fs AGPAT4_ENST00000457520.2_Frame_Shift_Ins_p.A141fs|AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 303 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding p.R303fs*7(2)|p.R303fs*60(1) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CCAGGGCCGCCGGGGGGGCACC 0.629 8 100 --- --- --- --- ANLN 54443 broad.mit.edu 37 7 36438715 36438716 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:36438715_36438716insA ENST00000265748.2 + 3 421_422 c.200_201insA c.(199-201)taafs p.*67fs ANLN_ENST00000396068.2_Frame_Shift_Ins_p.*67fs NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 67 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CCATCGCCATCAAAAAAACGCT 0.347 7 219 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91732038 91732039 + Frame_Shift_Ins INS - - G rs143306820 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:91732038_91732039insG ENST00000359028.2 + 46 11465_11466 c.11240_11241insG c.(11239-11241)aggfs p.R3747fs AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3747 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTTGCCCGGATGGGGGGGCAGC 0.535 T BRAF papillary thyroid 21 300 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98592294 98592295 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:98592294_98592295insC ENST00000359863.4 + 66 10299_10300 c.10090_10091insC c.(10090-10092)cccfs p.P3364fs TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3364 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCTAAAATCACCCCCCACACT 0.540 7 555 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100285169 100285170 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:100285169_100285170insG ENST00000275732.5 - 4 1540_1541 c.331_332insC c.(331-333)ggcfs p.G111fs GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 111 p.L111fs*234(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGTGCCAGCCAGGGGGGGGCCA 0.673 3 4 --- --- --- --- SVOPL 136306 broad.mit.edu 37 7 138312995 138312996 + Frame_Shift_Ins INS - - C rs79662895 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:138312995_138312996insC ENST00000421622.1 - 7 824_825 c.616_617insG c.(616-618)ctcfs p.L206fs SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs|SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs Q8N434 SVOPL_HUMAN SVOP-like 326 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CTCCCCTGAGTCCCCCCCAGTC 0.554 8 154 --- --- --- --- KDM7A 80853 broad.mit.edu 37 7 139820279 139820280 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:139820279_139820280insC ENST00000397560.2 - 8 1198_1199 c.1101_1102insG c.(1099-1104)ggacttfs p.L368fs JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 368 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TGCAGGAAGTTCCCCCCAAAAG 0.356 8 195 --- --- --- --- KEL 3792 broad.mit.edu 37 7 142639979 142639980 + Frame_Shift_Ins INS - - C rs140258059 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:142639979_142639980insC ENST00000355265.2 - 17 2397_2398 c.1923_1924insG c.(1921-1926)ggtagcfs p.S642fs NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 642 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCGATGGCTAGCCCCCCAACGT 0.500 15 885 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18413784 18413785 + Frame_Shift_Ins INS - - G rs28651847 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:18413784_18413785insG ENST00000440756.2 - 15 2970_2971 c.2868_2869insC c.(2866-2871)ccacaafs p.Q957fs PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 956 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity p.D421Y(1)|p.D957Y(1) 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) ACCTTCTTGTCGGGGGGATATG 0.480 16 566 --- --- --- --- DPYSL2 1808 broad.mit.edu 37 8 26513183 26513184 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:26513183_26513184insC ENST00000311151.5 + 14 2092_2093 c.1680_1681insC c.(1678-1683)gcccccfs p.AP560fs DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 560 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GTATCGTGGCGCCCCCCGGTGG 0.644 OREG0018659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 356 --- --- --- --- UNC5D 137970 broad.mit.edu 37 8 35584019 35584020 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:35584019_35584020insG ENST00000287272.2 + 9 1466_1467 c.1446_1447insG c.(1444-1449)ttggggfs p.LG482fs UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 551 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGGCCATTTAGGGGGGCGCTT 0.411 8 547 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488452 67488453 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:67488452_67488453insT ENST00000522677.3 - 10 1669_1670 c.1259_1260insA c.(1258-1260)aacfs p.N420fs MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CATTACAAGTGTTTTTTTTCCC 0.406 22 1103 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:68128855_68128856insG ENST00000262215.3 - 33 5044_5045 c.4655_4656insC c.(4654-4656)cccfs p.P1552fs ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 15 341 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73480091 73480092 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:73480091_73480092insG ENST00000523207.1 + 2 710_711 c.122_123insG c.(121-123)gggfs p.G41fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 41 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AAGATCAATGTGGGGGGCCTCA 0.564 7 397 --- --- --- --- LY96 23643 broad.mit.edu 37 8 74903692 74903693 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:74903692_74903693insT ENST00000284818.2 + 1 106_107 c.15_16insT c.(13-18)ctttttfs p.LF5fs LY96_ENST00000518893.1_Frame_Shift_Ins_p.LF5fs NM_015364.4 NP_056179.3 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 5 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) TACCATTTCTGTTTTTTTCCAC 0.366 7 679 --- --- --- --- RBM12B 389677 broad.mit.edu 37 8 94746932 94746933 + Frame_Shift_Ins INS - - G rs150172581 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:94746932_94746933insG ENST00000399300.2 - 3 1919_1920 c.1706_1707insC c.(1705-1707)cgafs p.R569fs RBM12B_ENST00000517700.1_Frame_Shift_Ins_p.R569fs|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 569 nucleotide binding|RNA binding p.P569R(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TGAAGTCCTCCGGGGGGAACCT 0.584 7 230 --- --- --- --- TP53INP1 94241 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 7 274 --- --- --- --- ASAP1 50807 broad.mit.edu 37 8 131104241 131104242 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr8:131104241_131104242insG ENST00000357668.1 - 24 2576_2577 c.2549_2550insC c.(2548-2550)caafs p.Q850fs ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.Q850fs Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 850 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CGCCTTTGTTTGGGGGCCCATG 0.614 10 936 --- --- --- --- PIGO 84720 broad.mit.edu 37 9 35091522 35091523 + Frame_Shift_Ins INS - - G rs144233446 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:35091522_35091523insG ENST00000378617.3 - 7 2755_2756 c.2361_2362insC c.(2359-2364)cccttcfs p.F788fs PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000361778.2_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 788 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity p.T788fs*5(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCTTGAGAAGTGGGGGGGCCTG 0.604 9 124 --- --- --- --- PHF2 5253 broad.mit.edu 37 9 96439004 96439005 + In_Frame_Ins INS - - CCTGCCTCCACCACA rs75653373 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:96439004_96439005insCCTGCCTCCACCACA ENST00000359246.4 + 21 3328_3329 c.2961_2962insCCTGCCTCCACCACA c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc p.987_988TG>TLPPPHG PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 987 Ser/Thr-rich. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding p.T987_P988insPASTT(1)|p.T987T(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) cctctaccaccccggcctccac 0.688 5 0 --- --- --- --- MRPL50 54534 broad.mit.edu 37 9 104152774 104152775 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:104152774_104152775insG ENST00000374865.4 - 2 471_472 c.450_451insC c.(448-453)ccatttfs p.F151fs MRPL50_ENST00000539624.1_Intron NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 151 mitochondrion|ribosome p.P150P(1) large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) ATTTTCAAATTGGGGGGCAGAT 0.401 9 377 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109686947 109686948 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:109686947_109686948insC ENST00000277225.5 + 3 1043_1044 c.754_755insC c.(754-756)cccfs p.P252fs ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.P252fs Q96JM2 ZN462_HUMAN zinc finger protein 462 252 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAGCTACCAGACCCCCCGCCGA 0.505 7 328 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109691601 109691602 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:109691601_109691602insG ENST00000277225.5 + 3 5697_5698 c.5408_5409insG c.(5407-5409)tggfs p.W1803fs ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1803 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCCAGCAAGTTGGGGGGCTACT 0.550 8 236 --- --- --- --- CCBL1 883 broad.mit.edu 37 9 131600392 131600393 + Frame_Shift_Ins INS - - A rs34879109 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr9:131600392_131600393insA ENST00000436267.2 - 7 806_807 c.657_658insT c.(655-660)ttactgfs p.LL219fs CCBL1_ENST00000320665.6_Frame_Shift_Ins_p.LL75fs|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Frame_Shift_Ins_p.LL125fs Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 125 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) TCGTAGCAGTCAAAAAAGGGTT 0.535 7 136 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 16877089 16877090 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:16877089_16877090insG ENST00000377833.4 - 64 10350_10351 c.10285_10286insC c.(10285-10287)gaafs p.E3429fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3429 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTGTGGTTCTGGGGGGCTGTG 0.450 8 540 --- --- --- --- MLLT10 8028 broad.mit.edu 37 10 21962451 21962452 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:21962451_21962452insG ENST00000377072.3 + 11 1572_1573 c.1224_1225insG c.(1222-1227)gaggggfs p.EG408fs MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 408 DNA-binding. 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.V411fs*3(1) NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GAAGCCAGGAAGGGGGGGTAAA 0.436 T """MLL, PICALM, CDK6""" AL 11 370 --- --- --- --- TLL2 7093 broad.mit.edu 37 10 98164994 98164995 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:98164994_98164995insG ENST00000357947.3 - 10 1486_1487 c.1261_1262insC c.(1261-1263)tttfs p.F421fs TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 421 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CTTACCCAAAAGGGGGGCTTTT 0.480 7 650 --- --- --- --- CUTC 51076 broad.mit.edu 37 10 101499503 101499504 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:101499503_101499504insG ENST00000370476.5 + 3 299_300 c.170_171insG c.(169-171)gggfs p.G57fs CUTC_ENST00000493385.1_3'UTR NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 57 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) GGTTTATCAGAGGGGGGAACTA 0.401 7 441 --- --- --- --- PAX2 5076 broad.mit.edu 37 10 102584451 102584452 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:102584451_102584452insC ENST00000370296.2 + 9 1585_1586 c.1035_1036insC c.(1033-1038)gtccccfs p.VP345fs PAX2_ENST00000355243.3_Frame_Shift_Ins_p.VP322fs|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.VP345fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.VP321fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.VP322fs Q02962 PAX2_HUMAN paired box 2 345 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CCCCTCACGTGCCCCCCACTGG 0.609 7 182 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103906659 103906660 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:103906659_103906660insC ENST00000278070.2 + 9 3949_3950 c.3910_3911insC c.(3910-3912)cccfs p.P1304fs PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P271fs|PPRC1_ENST00000413464.2_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCGGAGCAGGACCCCCCCAAAA 0.569 7 102 --- --- --- --- LINC00959 387723 broad.mit.edu 37 10 131905959 131905960 + RNA INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:131905959_131905960insG ENST00000456581.1 - 0 114 CTTTGCCTCCAGGGGGGGAAGG 0.530 8 189 --- --- --- --- STK33 65975 broad.mit.edu 37 11 8414087 8414088 + In_Frame_Ins INS - - CCAGAA TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:8414087_8414088insCCAGAA ENST00000447869.1 - 12 2432_2433 c.1514_1515insTTCTGG c.(1513-1515)ggc>gTTCTGGgc p.504_505insVL STK33_ENST00000315204.1_In_Frame_Ins_p.504_505insVL|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_In_Frame_Ins_p.317_318insVL|STK33_ENST00000396673.1_In_Frame_Ins_p.438_439insVL|STK33_ENST00000396672.1_In_Frame_Ins_p.504_505insVL|STK33_ENST00000534493.1_In_Frame_Ins_p.463_464insVL Q9BYT3 STK33_HUMAN serine/threonine kinase 33 504 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TGGACAGGGCGCCGGATTTAGC 0.480 43 248 --- --- --- --- DENND5A 23258 broad.mit.edu 37 11 9167316 9167317 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:9167316_9167317insC ENST00000328194.3 - 17 3223_3224 c.2903_2904insG c.(2902-2904)gtcfs p.V968fs DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs|DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 968 PLAT. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGAACATGGAGCCCCCCAGCTT 0.480 10 1030 --- --- --- --- CTR9 9646 broad.mit.edu 37 11 10785261 10785262 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:10785261_10785262insT ENST00000361367.2 + 9 1455_1456 c.1029_1030insT c.(1027-1032)ccttttfs p.PF343fs NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 343 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTGTGCTCCCATTTTTTGGTTT 0.342 7 267 --- --- --- --- APIP 51074 broad.mit.edu 37 11 34904908 34904909 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:34904908_34904909insC ENST00000395787.3 - 6 818_819 c.604_605insG c.(604-606)aacfs p.N202fs APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 202 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) CTCCCATGTTTCCCCCCACACA 0.450 8 669 --- --- --- --- SLC1A2 6506 broad.mit.edu 37 11 35313880 35313881 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:35313880_35313881insA ENST00000278379.3 - 7 1326_1327 c.1044_1045insT c.(1042-1047)ttctggfs p.W349fs SLC1A2_ENST00000395753.1_Frame_Shift_Ins_p.W340fs|SLC1A2_ENST00000606205.1_Frame_Shift_Ins_p.W349fs|SLC1A2_ENST00000395750.1_Frame_Shift_Ins_p.W340fs NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 349 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 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) AAAATGCCAGCAAAAAAGGAGA 0.470 9 1097 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:35513669_35513670insC ENST00000378880.2 - 3 747_748 c.302_303insG c.(301-303)gacfs p.D101fs PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CATCCAAGGTACCCCCCCATGA 0.520 37 1108 --- --- --- --- C11orf49 79096 broad.mit.edu 37 11 47074000 47074001 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:47074000_47074001insC ENST00000395460.2 + 3 249_250 c.211_212insC c.(211-213)cccfs p.P71fs C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs NM_001003676.1 NP_001003676.1 Q9H6J7 CK049_HUMAN chromosome 11 open reading frame 49 71 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 CGTCCAAGCCACCCCCCACAAT 0.441 7 376 --- --- --- --- OR4S1 256148 broad.mit.edu 37 11 48328524 48328525 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:48328524_48328525insC ENST00000319988.1 + 1 750_751 c.750_751insC c.(748-753)atccccfs p.IP250fs NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGGTTCTCATGCCCCCCATGTT 0.480 13 1149 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57185234 57185235 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:57185234_57185235insG ENST00000395123.2 - 8 961_962 c.657_658insC c.(655-660)ccactafs p.L220fs SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 220 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TAGCTGTAGTTGGGGGGCAGTG 0.564 9 248 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57505845 57505846 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:57505845_57505846insC ENST00000278422.4 + 4 396_397 c.384_385insC c.(382-387)aaccccfs p.NP128fs TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 128 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TGACGTGCAAACCCCCCCTATA 0.421 7 435 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183884 61183885 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:61183884_61183885insG ENST00000340437.4 - 6 866_867 c.786_787insC c.(784-789)ccgtgtfs p.C263fs CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 220 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GGCAGCACACTGGGGGGCTTAT 0.594 10 566 --- --- --- --- CTD-3074O7.11 0 broad.mit.edu 37 11 66299155 66299156 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:66299155_66299156insC ENST00000419755.3 + 16 1826_1827 c.1748_1749insC c.(1747-1749)tccfs p.S583fs BBS1_ENST00000455748.2_Frame_Shift_Ins_p.S449fs|BBS1_ENST00000318312.7_Frame_Shift_Ins_p.S546fs|BBS1_ENST00000393994.2_Frame_Shift_Ins_p.S417fs|ZDHHC24_ENST00000526986.1_Intron GGGCTCAACTACCCCCTGGAGA 0.540 8 903 --- --- --- --- NUMA1 4926 broad.mit.edu 37 11 71746964 71746965 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:71746964_71746965insC ENST00000393695.3 - 3 356_357 c.25_26insG c.(25-27)tgcfs p.C9fs NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 9 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity 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 GAGGAGTGCAGCCCCCCGGGTG 0.505 T RARA APL 8 398 --- --- --- --- KIAA1377 57562 broad.mit.edu 37 11 101828931 101828932 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:101828931_101828932insA ENST00000263468.8 + 5 809_810 c.539_540insA c.(538-540)taafs p.*180fs KIAA1377_ENST00000537689.1_5'UTR NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 180 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TCCGCATTATCAAAAAATGATC 0.332 7 1888 --- --- --- --- RDX 5962 broad.mit.edu 37 11 110104136 110104137 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:110104136_110104137insG ENST00000343115.4 - 13 1731_1732 c.1412_1413insC c.(1411-1413)cccfs p.P471fs RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 471 Glu-rich.|Poly-Pro. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GTGGAGGTGGAGGGGGGGCAGA 0.431 18 665 --- --- --- --- TTC12 54970 broad.mit.edu 37 11 113210159 113210160 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:113210159_113210160insG ENST00000393020.1 + 10 1194_1195 c.789_790insG c.(787-792)gcggggfs p.AG263fs TTC12_ENST00000529221.1_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.AG269fs|TTC12_ENST00000314756.3_Frame_Shift_Ins_p.AG263fs Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 263 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGTTCTATGCTGGGGGGATTGA 0.500 9 625 --- --- --- --- DSCAML1 57453 broad.mit.edu 37 11 117321331 117321332 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:117321331_117321332insG ENST00000321322.6 - 20 3822_3823 c.3821_3822insC c.(3820-3822)cacfs p.H1274fs DSCAML1_ENST00000527706.1_Frame_Shift_Ins_p.H1004fs NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1214 Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGGCTTGGTAGGGGGGAGCCA 0.589 7 363 --- --- --- --- JAM3 83700 broad.mit.edu 37 11 134018467 134018468 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:134018467_134018468insG ENST00000299106.4 + 7 897_898 c.738_739insG c.(736-741)atggggfs p.MG246fs JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 246 angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) GCGGAATTATTGGGGGGGTTCT 0.485 18 365 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 11 682 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27950768 27950769 + Frame_Shift_Ins INS - - G rs145908611 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:27950768_27950769insG ENST00000381271.2 + 3 1498_1499 c.1187_1188insG c.(1186-1188)gggfs p.G396fs NM_020782.1 NP_065833.1 kelch-like family member 42 ATCTACATCGTGGGGGGGTGTC 0.594 7 196 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:49445525_49445526insG ENST00000301067.7 - 10 1939_1940 c.1940_1941insC c.(1939-1941)cccfs p.P647fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATACCTCAGGTGGGGGGGACAT 0.634 8 169 --- --- --- --- KRT79 338785 broad.mit.edu 37 12 53215777 53215778 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:53215777_53215778insC ENST00000330553.5 - 9 1520_1521 c.1486_1487insG c.(1486-1488)cacfs p.H496fs NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 496 Tail. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCCTTGGTGGCCCCCCCACTC 0.619 8 85 --- --- --- --- PDE1B 5153 broad.mit.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:54971059_54971060insC ENST00000243052.3 + 15 1994_1995 c.1558_1559insC c.(1558-1560)cccfs p.P520fs PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 520 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGAAGAAGAGGCCCCCCCATCC 0.559 10 337 --- --- --- --- OR6C74 254783 broad.mit.edu 37 12 55641385 55641386 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:55641385_55641386insG ENST00000343870.4 + 1 404_405 c.314_315insG c.(313-315)tggfs p.W105fs NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 ACTATTCTCTTGGGGGCAACTG 0.441 8 1205 --- --- --- --- OR6C4 341418 broad.mit.edu 37 12 55945453 55945454 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:55945453_55945454insG ENST00000394256.2 + 1 471_472 c.443_444insG c.(442-444)tggfs p.W148fs RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TGCTCCTGGTTGGGGGGATTCC 0.455 7 685 --- --- --- --- DGKA 1606 broad.mit.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:56347513_56347514insC ENST00000331886.5 + 24 2623_2624 c.2169_2170insC c.(2167-2172)ccccccfs p.PP723fs DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 16 311 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56531341 56531342 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:56531341_56531342insG ENST00000394048.5 + 18 2261_2262 c.1997_1998insG c.(1996-1998)tggfs p.W666fs ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 666 C2 3. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 GACCGTTTCTTGGGGGGACTGG 0.550 8 376 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559112 56559113 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:56559112_56559113insG ENST00000394023.3 - 27 3326_3327 c.3221_3222insC c.(3220-3222)cggfs p.R1074fs SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1043 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CATGGGGTCCAGGGGGGGGAAC 0.574 8 138 --- --- --- --- STAT2 6773 broad.mit.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:56742816_56742817insG ENST00000314128.4 - 17 1490_1491 c.1467_1468insC c.(1465-1470)ccaggcfs p.G490fs STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 490 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CAGGGGGCCTTGGGGGGGTTGG 0.594 10 170 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57114417 57114418 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:57114417_57114418insG ENST00000454682.1 - 3 1177_1178 c.896_897insC c.(895-897)cgafs p.R299fs NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGAAAATCTGGGGGGGTGTT 0.490 T BCL6 NHL 7 88 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G rs139915490 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:57572241_57572242insG ENST00000243077.3 + 27 4927_4928 c.4461_4462insG c.(4459-4464)taggggfs p.*G1487fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 8 181 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57860074 57860075 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:57860074_57860075insG ENST00000228682.2 + 8 905_906 c.814_815insG c.(814-816)gggfs p.G272fs GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 272 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CGTGTGCCACTGGGGGGGCTGC 0.599 20 530 --- --- --- --- PPFIA2 8499 broad.mit.edu 37 12 81741386 81741387 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:81741386_81741387insG ENST00000550584.2 - 17 2452_2453 c.2157_2158insC c.(2155-2160)ccgtggfs p.W720fs PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000407050.4_Frame_Shift_Ins_p.W646fs|PPFIA2_ENST00000541570.2_Frame_Shift_Ins_p.W287fs|PPFIA2_ENST00000333447.7_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000549396.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000443686.3_Frame_Shift_Ins_p.W621fs|PPFIA2_ENST00000550359.2_Frame_Shift_Ins_p.W567fs|PPFIA2_ENST00000549325.1_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000552948.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000548586.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000545296.2_Intron NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 646 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GAGTGTCCACTGGGGGGAGATG 0.550 7 436 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524078 88524079 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:88524078_88524079insT ENST00000552810.1 - 9 978_979 c.635_636insA c.(634-636)atafs p.I212fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TAAGCTCATAGTTTTTTTTAGA 0.317 8 548 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100451839 100451840 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:100451839_100451840insG ENST00000279907.7 - 14 3427_3428 c.3215_3216insC c.(3214-3216)cgtfs p.R1072fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1072 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GTGTTCTAACTGGGGGGGTCTC 0.371 15 346 --- --- --- --- BTBD11 121551 broad.mit.edu 37 12 107937777 107937778 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:107937777_107937778insC ENST00000280758.5 + 3 1879_1880 c.1351_1352insC c.(1351-1353)cccfs p.P451fs BTBD11_ENST00000420571.2_Frame_Shift_Ins_p.P451fs|BTBD11_ENST00000490090.2_Frame_Shift_Ins_p.P451fs NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 451 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CGGCAATGGCACCCCCCTGCAC 0.579 8 154 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132466645 132466646 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr12:132466645_132466646insC ENST00000333577.4 + 6 1768_1769 c.1659_1660insC c.(1657-1662)atccccfs p.IP553fs EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs Q96L91 EP400_HUMAN E1A binding protein p400 553 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CAGGAGGAATGCCCCCCACGCC 0.589 7 418 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr13:41705321_41705322insC ENST00000379485.1 - 1 1560_1561 c.1326_1327insG c.(1324-1329)gggagafs p.R443fs KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 443 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.470 17 313 --- --- --- --- ARHGEF40 55701 broad.mit.edu 37 14 21546603 21546604 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:21546603_21546604insG ENST00000298694.4 + 10 2329_2330 c.2202_2203insG c.(2200-2205)gaggggfs p.EG734fs ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 734 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TGCAGAGGGATGGGGGGGCCAT 0.629 7 78 --- --- --- --- SUPT16H 11198 broad.mit.edu 37 14 21820849 21820850 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:21820849_21820850insG ENST00000216297.2 - 26 3464_3465 c.3126_3127insC c.(3124-3129)ccagaafs p.E1043fs NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 1043 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCTTTTTCTTGGGGGGTGCAG 0.480 15 678 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21992275 21992276 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:21992275_21992276insG ENST00000327430.3 - 2 1880_1881 c.1586_1587insC c.(1585-1587)cggfs p.R529fs SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 529 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CCTCACTCCCTGGGGGGGTGTT 0.530 11 194 --- --- --- --- OR10G2 26534 broad.mit.edu 37 14 22102924 22102925 + Frame_Shift_Ins INS - - G rs150140072 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:22102924_22102925insG ENST00000542433.1 - 1 171_172 c.74_75insC c.(73-75)caafs p.Q25fs NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TTCTTAGATTTGGGGGGTGAGA 0.480 8 443 --- --- --- --- OR4E2 26686 broad.mit.edu 37 14 22133745 22133746 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:22133745_22133746insG ENST00000408935.1 + 1 449_450 c.449_450insG c.(448-450)tggfs p.W150fs NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GCTCTCTGGTTGGGGGGTACTG 0.480 8 604 --- --- --- --- TINF2 26277 broad.mit.edu 37 14 24709675 24709676 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:24709675_24709676insC ENST00000399423.4 - 6 1340_1341 c.1010_1011insG c.(1009-1011)gagfs p.E337fs TINF2_ENST00000538777.1_Frame_Shift_Ins_p.E123fs|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000540705.1_Frame_Shift_Ins_p.E302fs|TINF2_ENST00000267415.7_Frame_Shift_Ins_p.E337fs NM_012461.2 NP_036593.2 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 337 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) TCAGAGCCCTTCCCCCCAGGGT 0.535 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome 8 235 --- --- --- --- CTSG 1511 broad.mit.edu 37 14 25042847 25042848 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:25042847_25042848insG ENST00000216336.2 - 5 799_800 c.763_764insC c.(763-765)gtgfs p.V255fs NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 255 immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) AGTCAGTCACAGGGGGGTCTCC 0.490 8 1852 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64484334 64484336 + In_Frame_Del DEL TAC TAC - rs143578863 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:64484334_64484336delTAC ENST00000358025.3 + 34 5139_5141 c.4909_4911delTAC c.(4909-4911)del p.Y1638del SYNE2_ENST00000554584.1_In_Frame_Del_p.Y1638del|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_In_Frame_Del_p.Y1638del NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1638 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GACAGAAGATTACTATGAAAATC 0.335 62 119 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 17 602 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54630575 54630576 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:54630575_54630576insC ENST00000545554.1 + 16 4601_4602 c.4601_4602insC c.(4600-4602)accfs p.T1534fs UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1534 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGCTGCAAAGCCCCCCAAAAG 0.401 9 702 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr15:63918305_63918306insG ENST00000443617.2 - 71 13240_13241 c.13153_13154insC c.(13153-13155)gtafs p.V4385fs NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4385 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CGCCCCATACTGGGGGGGCACT 0.559 9 94 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81765 81766 + RNA INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:81765_81766insC ENST00000568710.1 - 0 434 GGCAACCCCTGCCCCCCATGTC 0.564 7 467 --- --- --- --- NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:14980694_14980695insC ENST00000287667.7 + 28 3470_3471 c.3299_3300insC c.(3298-3300)tccfs p.S1100fs NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1100 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTCTTCCATTTCCCCCCACTGC 0.475 9 624 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20556547 20556548 + Frame_Shift_Ins INS - - G rs146499503 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:20556547_20556548insG ENST00000329697.6 - 10 1380_1381 c.1212_1213insC c.(1210-1215)ccgcacfs p.H405fs ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTTCTGTGCCGGGGGGCAGGA 0.515 7 413 --- --- --- --- HS3ST2 9956 broad.mit.edu 37 16 22926721 22926722 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:22926721_22926722insA ENST00000261374.3 + 2 1376_1377 c.942_943insA c.(940-945)ttaaaafs p.LK314fs NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 314 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TCCCTTGCTTGAAAAAAACAGA 0.485 8 832 --- --- --- --- MARVELD3 91862 broad.mit.edu 37 16 71668195 71668196 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:71668195_71668196insG ENST00000268485.3 + 3 739_740 c.695_696insG c.(694-696)tggfs p.W232fs MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.LG45fs NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 232 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) ATCACCAGCTTGGGGGGCATTT 0.559 8 114 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690386 75690388 + In_Frame_Del DEL TCC TCC - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr16:75690386_75690388delTCC ENST00000300086.4 + 3 1174_1176 c.1077_1079delTCC c.(1075-1080)tac>ta p.YP359del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 359 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 CTGATGGATATCCCATTTGGTCC 0.453 11 340 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8409750 8409751 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:8409750_8409751insG ENST00000360416.3 - 27 3409_3410 c.3271_3272insC c.(3271-3273)cgafs p.R1091fs MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1060 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTCCCCGTCGAGTTTTCTTTTG 0.515 23 191 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:27959374_27959375insG ENST00000269033.3 - 15 2907_2908 c.2756_2757insC c.(2755-2757)cgafs p.R919fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGAATGTTCTGGGGGGGCTTC 0.480 30 694 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963294 27963295 + Frame_Shift_Ins INS - - G rs35554312 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:27963294_27963295insG ENST00000269033.3 - 14 2023_2024 c.1872_1873insC c.(1870-1875)cctgtcfs p.V625fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 625 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGGGGACATGGGGGGGTCTT 0.470 9 216 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29683557 29683558 + Frame_Shift_Ins INS - - C rs66883224 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:29683557_29683558insC ENST00000358273.4 + 52 8078_8079 c.7695_7696insC c.(7693-7698)acccccfs p.TP2565fs NF1_ENST00000356175.3_Frame_Shift_Ins_p.TP2544fs|NF1_ENST00000444181.2_Frame_Shift_Ins_p.TP358fs|NF1_ENST00000417592.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2565 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGATCACAACACCCCCCAAAAT 0.366 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 7 278 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35600370 35600371 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:35600370_35600371insG ENST00000353139.5 - 22 3328_3329 c.2847_2848insC c.(2845-2850)ccatgtfs p.C950fs ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 913 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTCTCCACATTGGGGGGAATGC 0.470 13 1169 --- --- --- --- FAM104A 84923 broad.mit.edu 37 17 71223356 71223357 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr17:71223356_71223357insG ENST00000405159.3 - 2 332_333 c.268_269insC c.(268-270)gacfs p.D90fs FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 90 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) TCTTTTGGTCTGGGGGGGAAGA 0.416 10 295 --- --- --- --- ANKRD12 23253 broad.mit.edu 37 18 9204503 9204504 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr18:9204503_9204504insG ENST00000262126.3 + 4 505_506 c.265_266insG c.(265-267)gggfs p.G89fs ANKRD12_ENST00000400020.3_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 89 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AAGTGAAAATTGGGGGGAGAGA 0.386 8 253 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8196624 8196625 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:8196624_8196625insC ENST00000600128.1 - 15 2217_2218 c.1803_1804insG c.(1801-1806)ggtggcfs p.G602fs FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs Q75N90 FBN3_HUMAN fibrillin 3 602 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTACCGCCAGCCCCCCCAGGC 0.678 7 27 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9072450 9072451 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:9072450_9072451insG ENST00000397910.4 - 3 15198_15199 c.14995_14996insC c.(14995-14997)ggcfs p.G4999fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5001 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 GATCCCTGCCTGGGGGGTTGTA 0.465 8 397 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15276860 15276861 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:15276860_15276861insC ENST00000263388.2 - 30 5479_5480 c.5404_5405insG c.(5404-5406)tctfs p.S1802fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1802 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TGGCTCCAGAGCCCCCCCACAG 0.569 9 111 --- --- --- --- CYP4F12 66002 broad.mit.edu 37 19 15784498 15784499 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:15784498_15784499insC ENST00000550308.1 + 2 539_540 c.159_160insC c.(157-162)caccccfs p.HP53fs CYP4F12_ENST00000324632.9_Frame_Shift_Ins_p.HP53fs NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GTTTCCCACAGCCCCCAAAACG 0.584 8 349 --- --- --- --- CYP4F2 8529 broad.mit.edu 37 19 15996865 15996866 + Splice_Site INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:15996865_15996866insG ENST00000221700.5 - 9 1081 c.e9-2 CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGTCATGGCCTGGGGGGCAGCA 0.629 7 249 --- --- --- --- CYP4F2 8529 broad.mit.edu 37 19 16006366 16006367 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:16006366_16006367insG ENST00000221700.5 - 3 387_388 c.292_293insC c.(292-294)cctfs p.P98fs CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 98 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CAAACTGAGGAGGGGGGAGATG 0.594 8 371 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 9 288 --- --- --- --- AXL 558 broad.mit.edu 37 19 41743932 41743933 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:41743932_41743933insC ENST00000301178.4 + 7 1057_1058 c.867_868insC c.(865-870)gtccccfs p.VP289fs AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs|AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 289 Fibronectin type-III 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 AAGCATCCGTGCCCCCCCATCA 0.649 8 161 --- --- --- --- KLK1 3816 broad.mit.edu 37 19 51326962 51326963 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:51326962_51326963insC ENST00000301420.2 - 1 77_78 c.42_43insG c.(40-45)ggctggfs p.W15fs KLK1_ENST00000448701.2_5'UTR NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 15 proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCTCACCAGTCCCCCCCAGGG 0.653 9 173 --- --- --- --- ZNF175 7728 broad.mit.edu 37 19 52090436 52090437 + Frame_Shift_Ins INS - - G rs138396190 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr19:52090436_52090437insG ENST00000262259.2 + 5 1210_1211 c.852_853insG c.(850-855)tgggggfs p.WG284fs ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 284 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GTTCTGAATGTGGGGGGAGCTT 0.441 7 381 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:3128000_3128001insC ENST00000380266.3 - 2 2037_2038 c.1716_1717insG c.(1714-1719)ggcccafs p.GP572fs UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 572 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 ACGTACTGGGGCCCCCCCAGCA 0.436 8 210 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16407830 16407831 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:16407830_16407831insC ENST00000354981.2 - 15 1687_1688 c.1530_1531insG c.(1528-1533)ggcagtfs p.S511fs KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 511 FHA. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 AGAGTCACTGTCCCCCCGATAT 0.431 11 893 --- --- --- --- CST4 1472 broad.mit.edu 37 20 23667825 23667826 + Frame_Shift_Ins INS - - C rs140501583 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:23667825_23667826insC ENST00000217423.3 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 81 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGTAATTCACCCCCCCAAAG 0.554 33 475 --- --- --- --- TM9SF4 9777 broad.mit.edu 37 20 30737490 30737491 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:30737490_30737491insC ENST00000217315.5 + 10 1297_1298 c.957_958insC c.(955-960)agccccfs p.SP319fs TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 336 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACGTCTTCAGGCCCCCCCAGTA 0.604 9 74 --- --- --- --- DNMT3B 1789 broad.mit.edu 37 20 31384650 31384651 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:31384650_31384651insG ENST00000328111.2 + 13 1673_1674 c.1352_1353insG c.(1351-1353)gggfs p.G451fs DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 451 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCTCTTTGAGGGGGGGCTCT 0.559 8 113 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 10 143 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)ccatttfs p.F103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 12 229 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 22 498 --- --- --- --- ZFP64 55734 broad.mit.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr20:50769075_50769076insG ENST00000216923.4 - 6 2004_2005 c.1655_1656insC c.(1654-1656)ccafs p.P552fs ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GCGAGGACTGAGGGGGGGCGAT 0.673 8 58 --- --- --- --- ITSN1 6453 broad.mit.edu 37 21 35122566 35122567 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr21:35122566_35122567insC ENST00000381318.3 + 6 753_754 c.465_466insC c.(463-468)gtccccfs p.VP155fs ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 155 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CAGCAGCTGTGCCCCCCCTGGC 0.525 12 264 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 18022285 18022286 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:18022285_18022286insC ENST00000262608.8 + 15 2390_2391 c.2390_2391insC c.(2389-2391)gccfs p.A797fs CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 838 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGACCACCTGTCCCCCCCAACC 0.609 8 183 --- --- --- --- P2RX6P 440799 broad.mit.edu 37 22 21399220 21399221 + RNA INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:21399220_21399221insC ENST00000439119.1 - 0 51 NR_002829.1 TCTGCAGGGCGCCCCCCCACCA 0.599 7 192 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38895454 38895455 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:38895454_38895455insC ENST00000396821.3 - 3 587_588 c.488_489insG c.(487-489)ggafs p.G163fs DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 84 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.G163fs*20(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCAC 0.381 10 263 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40681766 40681767 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:40681766_40681767insC ENST00000454349.2 + 12 3911_3912 c.3700_3701insC c.(3700-3702)cccfs p.P1234fs TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1234 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CCAGTTTATTTCCCCCCAGGTA 0.450 12 506 --- --- --- --- PARVG 64098 broad.mit.edu 37 22 44586474 44586474 + Frame_Shift_Del DEL G G - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:44586474delG ENST00000422871.1 + 7 856 c.432delG c.(430-432)gtfs p.V144fs PARVG_ENST00000415224.1_Frame_Shift_Del_p.V144fs|PARVG_ENST00000444313.2_Frame_Shift_Del_p.V144fs NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 144 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) ACCTCCTTGTGGCCCTGGCCA 0.602 38 66 --- --- --- --- TBC1D22A 25771 broad.mit.edu 37 22 47188443 47188444 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:47188443_47188444insC ENST00000337137.4 + 2 255_256 c.89_90insC c.(88-90)cccfs p.P30fs TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 30 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGTGCCCAGCACCCCCCCTTTG 0.569 18 429 --- --- --- --- CA5B 11238 broad.mit.edu 37 X 15790675 15790676 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:15790675_15790676insG ENST00000318636.3 + 4 533_534 c.397_398insG c.(397-399)gggfs p.G133fs CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs NM_007220.3 NP_009151.1 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial 133 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) CCATTTTCACTGGGGGGCCATC 0.495 10 707 --- --- --- --- GPR64 10149 broad.mit.edu 37 X 19009002 19009003 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:19009002_19009003insT ENST00000354791.3 - 28 3226_3227 c.2985_2986insA c.(2983-2988)ttacttfs p.L996fs GPR64_ENST00000379878.3_Frame_Shift_Ins_p.L996fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.L1012fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.L1009fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.L988fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.L990fs|GPR64_ENST00000340581.3_Frame_Shift_Ins_p.L893fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.L998fs|GPR64_ENST00000379873.2_Frame_Shift_Ins_p.L961fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.L982fs Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 1012 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TCAATAAAGTGTAAGCTTCCCC 0.396 7 363 --- --- --- --- CHDC2 286464 broad.mit.edu 37 X 36122660 36122661 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:36122660_36122661insC ENST00000378660.1 + 8 1085_1086 c.897_898insC c.(895-900)atccccfs p.IP299fs CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.IP299fs calponin homology domain containing 2 GCAATAATATGCCCCCCATATG 0.351 7 697 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 40982956 40982957 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:40982956_40982957insC ENST00000324545.7 + 2 708_709 c.75_76insC c.(73-78)caccccfs p.HP25fs USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 25 Q -> L (in Ref. 1; CAA66942). 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 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 GACAGTCTCAGCCCCCCCTCCA 0.540 8 271 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47041662 47041663 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:47041662_47041663insG ENST00000377604.3 + 17 2629_2630 c.1887_1888insG c.(1885-1890)acgggcfs p.TG629fs RBM10_ENST00000329236.7_Frame_Shift_Ins_p.TG551fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.TG552fs NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 629 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ATAAGGAGACAGGGGCACCCTC 0.574 7 24 --- --- --- --- SSX9 280660 broad.mit.edu 37 X 48159107 48159108 + Frame_Shift_Ins INS - - G rs41305745 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:48159107_48159108insG ENST00000376909.1 - 6 487_488 c.425_426insC c.(424-426)cggfs p.R142fs SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TTGGTTTTCCCGGGGGGCACAG 0.490 15 833 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48207024 48207025 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:48207024_48207025insC ENST00000298396.2 - 7 533_534 c.481_482insG c.(481-483)acafs p.T161fs SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CCAGGCATGTTCCCCCCTTTTG 0.480 15 1655 --- --- --- --- HSD17B10 3028 broad.mit.edu 37 X 53458819 53458820 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:53458819_53458820insC ENST00000168216.6 - 5 548_549 c.521_522insG c.(520-522)gatfs p.D174fs HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375298.4_Intron|HSD17B10_ENST00000375304.5_Frame_Shift_Ins_p.D174fs NM_001037811.2|NM_004493.2 NP_001032900.1|NP_004484.1 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 174 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 8 NADH(DB00157) TGCCCACTATTCCCCCCTTGGA 0.525 7 493 --- --- --- --- MAGED2 10916 broad.mit.edu 37 X 54841728 54841728 + Frame_Shift_Del DEL G G - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:54841728delG ENST00000375068.1 + 12 1667 c.1434delG c.(1432-1434)gcfs p.A478fs MAGED2_ENST00000343474.6_Frame_Shift_Del_p.A460fs|MAGED2_ENST00000375053.2_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375062.4_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000396224.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375060.1_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.A422fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.A478fs Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 478 MAGE. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 ACCGAGAGGCGATGGAAGCGG 0.512 76 191 --- --- --- --- HEPH 9843 broad.mit.edu 37 X 65486286 65486287 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:65486286_65486287insC ENST00000519389.1 + 21 3590_3591 c.3411_3412insC c.(3409-3414)gtccccfs p.VP1137fs HEPH_ENST00000441993.2_Splice_Site_p.VP1085_splice|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.VP1086fs|HEPH_ENST00000336279.5_Frame_Shift_Ins_p.VP816fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.VP894fs|HEPH_ENST00000343002.2_Frame_Shift_Ins_p.VP1083fs Q9BQS7 HEPH_HUMAN hephaestin 1083 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TTTCAGCAGTGCCCCCCAGAGA 0.436 7 475 --- --- --- --- IL2RG 3561 broad.mit.edu 37 X 70330448 70330449 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:70330448_70330449insT ENST00000374202.2 - 3 450_451 c.359_360insA c.(358-360)agafs p.R120fs IL2RG_ENST00000456850.2_Intron NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 120 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GGTGGATCTCCTTTTTTTGCAA 0.450 Severe Combined Immunodeficiency, X-linked 7 550 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 8 94 --- --- --- --- KIAA2022 340533 broad.mit.edu 37 X 73963268 73963269 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:73963268_73963269insC ENST00000373468.1 - 3 1774_1775 c.1123_1124insG c.(1123-1125)ggafs p.G375fs KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs Q5QGS0 K2022_HUMAN KIAA2022 375 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 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 TTTATCTTCCTCCCCCCAGATG 0.475 10 1109 --- --- --- --- GPRASP1 9737 broad.mit.edu 37 X 101912087 101912088 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:101912087_101912088insG ENST00000537097.1 + 6 4059_4060 c.3246_3247insG c.(3244-3249)ttggggfs p.LG1082fs GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.LG1082fs|GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.LG1082fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Frame_Shift_Ins_p.LG1082fs NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1082 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GTGAAATGTTTGGGGGCAAACC 0.485 9 1228 --- --- --- --- FRMPD3 84443 broad.mit.edu 37 X 106845402 106845403 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:106845402_106845403insG ENST00000276185.4 + 16 4232_4233 c.4232_4233insG c.(4231-4233)tggfs p.W1411fs Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1411 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 ACGTGTGCCTCGGGGGGCGAGT 0.609 10 351 --- --- --- --- COL4A6 1288 broad.mit.edu 37 X 107462974 107462975 + Splice_Site INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:107462974_107462975insA ENST00000334504.7 - 5 513 c.e5-2 COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000372216.4_Splice_Site|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000538570.1_Splice_Site NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CATGGGACCCTAAAAAAAGGAG 0.421 Alport syndrome with Diffuse Leiomyomatosis 7 677 --- --- --- --- COL4A5 1287 broad.mit.edu 37 X 107834821 107834822 + Frame_Shift_Ins INS - - C rs104886321 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:107834821_107834822insC ENST00000328300.6 + 21 1614_1615 c.1370_1371insC c.(1369-1371)gccfs p.A457fs COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 457 Triple-helical region. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGCCCTCCAGGCCCCCCAGGAT 0.406 Alport syndrome with Diffuse Leiomyomatosis 9 1546 --- --- --- --- ZCCHC12 170261 broad.mit.edu 37 X 117960135 117960136 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:117960135_117960136insC ENST00000310164.2 + 4 1435_1436 c.928_929insC c.(928-930)cccfs p.P310fs NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 GGTCATTGATTCCCCCCACAAT 0.564 9 483 --- --- --- --- THOC2 57187 broad.mit.edu 37 X 122757062 122757063 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:122757062_122757063insG ENST00000245838.8 - 29 3606_3607 c.3575_3576insC c.(3574-3576)cccfs p.P1192fs THOC2_ENST00000355725.4_Frame_Shift_Ins_p.P1192fs|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.P1077fs NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1192 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 CATTCCTCGGAGGGGGGTCTTT 0.441 11 808 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129146962 129146963 + Frame_Shift_Ins INS - - G rs141901231 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:129146962_129146963insG ENST00000540052.1 + 3 258_259 c.214_215insG c.(214-216)gggfs p.G72fs BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 72 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 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 CAGCAATGCCCGGGGGGCAGAC 0.569 12 637 --- --- --- --- PLAC1 10761 broad.mit.edu 37 X 133700524 133700525 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:133700524_133700525insG ENST00000359237.4 - 3 473_474 c.188_189insC c.(187-189)caafs p.Q63fs PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 63 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) GAACATGGTTTGGGGGGCAACC 0.510 7 431 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314193 135314194 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:135314193_135314194insG ENST00000316077.9 - 8 1142_1143 c.922_923insC c.(922-924)ggtfs p.G308fs MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CACATTCACCTGGGGGGGTGCA 0.535 22 584 --- --- --- --- SLITRK2 84631 broad.mit.edu 37 X 144904117 144904118 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:144904117_144904118insC ENST00000370490.1 + 1 4429_4430 c.174_175insC c.(172-177)caccccfs p.HP58fs SLITRK2_ENST00000434188.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000413937.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000428560.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000447897.2_Frame_Shift_Ins_p.HP58fs Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 58 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GCCTGCTCCAGCCCCCCCAGTA 0.431 10 84 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 12 854 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158596702 158596702 + Frame_Shift_Del DEL C C - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr1:158596702delC ENST00000368148.3 - 41 5940 c.5760delG c.(5758-5760)tgfs p.W1920fs SPTA1_ENST00000368147.3_Frame_Shift_Del_p.W1917fs|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1920 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATTGCAACTTCCAAGCAGCTA 0.463 58 143 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 2 4 --- --- --- --- GJA10 84694 broad.mit.edu 37 6 90605805 90605805 + Frame_Shift_Del DEL A A - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:90605805delA ENST00000369352.1 + 1 1618 c.1618delA c.(1618-1620)aafs p.K540fs NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 540 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) ACATTCAGTTAAATTCAATTC 0.338 10 41 --- --- --- --- PRDM1 639 broad.mit.edu 37 6 106553068 106553069 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr6:106553068_106553069insA ENST00000369096.4 + 5 1267_1268 c.1033_1034insA c.(1033-1035)aagfs p.K345fs PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.K309fs|PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.K211fs NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 345 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CAGCCCCGACCAAAGCCTCAAG 0.619 """D, N, Mis, F, S""" DLBCL 60 214 --- --- --- --- JHDM1D-AS1 100134229 broad.mit.edu 37 7 139878082 139878089 + RNA DEL TCCCTCCC TCCCTCCC - rs57191915 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr7:139878082_139878089delTCCCTCCC ENST00000566699.1 + 0 1022_1029 NR_024451.1 cttccttccttccctccctccCTTTCCT 0.471 4 5 --- --- --- --- CALML5 51806 broad.mit.edu 37 10 5541067 5541068 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr10:5541067_5541068insG ENST00000380332.3 - 1 465_466 c.334_335insC c.(334-336)gccfs p.A112fs NM_017422.4 NP_059118.2 Q9NZT1 CALL5_HUMAN calmodulin-like 5 112 EF-hand 3. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 CGGCAGCGGCTGCCCCAGCCCC 0.713 7 17 --- --- --- --- AP000797.3 0 broad.mit.edu 37 11 115597866 115597866 + RNA DEL A A - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr11:115597866delA ENST00000539305.1 + 0 163 ggaaggaaggaaggaaaggaa 0.527 2 4 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64484334 64484336 + In_Frame_Del DEL TAC TAC - rs143578863 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr14:64484334_64484336delTAC ENST00000358025.3 + 34 5139_5141 c.4909_4911delTAC c.(4909-4911)del p.Y1638del SYNE2_ENST00000344113.4_In_Frame_Del_p.Y1638del|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_In_Frame_Del_p.Y1638del NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1638 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GACAGAAGATTACTATGAAAATC 0.335 58 196 --- --- --- --- LINC01399 104310353 broad.mit.edu 37 22 35589672 35589673 + RNA INS - - GAAG rs140037973 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:35589672_35589673insGAAG ENST00000423311.1 - 0 222 agggaagggaagaaggaaggaa 0.535 3 5 --- --- --- --- PARVG 64098 broad.mit.edu 37 22 44586474 44586474 + Frame_Shift_Del DEL G G - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chr22:44586474delG ENST00000422871.1 + 7 856 c.432delG c.(430-432)gtfs p.V144fs PARVG_ENST00000415224.1_Frame_Shift_Del_p.V144fs|PARVG_ENST00000444313.2_Frame_Shift_Del_p.V144fs NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 144 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) ACCTCCTTGTGGCCCTGGCCA 0.602 52 269 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47041662 47041663 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:47041662_47041663insG ENST00000377604.3 + 17 2629_2630 c.1887_1888insG c.(1885-1890)acgggcfs p.TG629fs RBM10_ENST00000329236.7_Frame_Shift_Ins_p.TG551fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.TG552fs NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 629 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ATAAGGAGACAGGGGCACCCTC 0.574 28 72 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 9 359 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 8 272 --- --- --- --- MAGED2 10916 broad.mit.edu 37 X 54841728 54841728 + Frame_Shift_Del DEL G G - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:54841728delG ENST00000375068.1 + 12 1667 c.1434delG c.(1432-1434)gcfs p.A478fs MAGED2_ENST00000375060.1_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000343474.6_Frame_Shift_Del_p.A460fs|MAGED2_ENST00000396224.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375062.4_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.A422fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375053.2_Frame_Shift_Del_p.A478fs Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 478 MAGE. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 ACCGAGAGGCGATGGAAGCGG 0.512 39 152 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01D-0969-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 7573999f-0520-41aa-9ef7-6094c11e220c g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 94 --- --- --- --- PRAMEF6 440561 broad.mit.edu 37 1 13109019 13109020 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:13109019_13109020insG ENST00000376182.1 - 4 1348_1349 c.1249_1250insC c.(1249-1251)ggafs p.G417fs PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs|PRAMEF6_ENST00000376192.5_Intron Q5VXH4 PRAM6_HUMAN PRAME family member 6 417 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATAACTCTCCCGGGGGGCAGGA 0.520 8 530 --- --- --- --- NBPF1 55672 broad.mit.edu 37 1 16901653 16901654 + Splice_Site INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:16901653_16901654insG ENST00000430580.2 - 20 3077_3078 c.2192_splice c.e20+1 p.PG730_splice NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 730 NBPF 3. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAGTGTTACCTGGGGGCAGACG 0.431 14 4017 --- --- --- --- NBPF3 84224 broad.mit.edu 37 1 21804665 21804666 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:21804665_21804666insC ENST00000318220.6 + 12 1901_1902 c.853_854insC c.(853-855)cccfs p.P285fs NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs|NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 341 NBPF 1. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGAGGAGGAAGCCCCCCAGGAG 0.500 8 743 --- --- --- --- KHDRBS1 10657 broad.mit.edu 37 1 32503458 32503459 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:32503458_32503459insG ENST00000327300.7 + 6 1095_1096 c.928_929insG c.(928-930)gggfs p.G310fs KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 310 Arg/Gly-rich. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGGACCACCTCGGGGGGCTTTG 0.500 8 471 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33233494 33233495 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:33233494_33233495insC ENST00000401073.2 + 2 412_413 c.342_343insC c.(340-345)cgccccfs p.RP114fs KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 55 S -> P (in dbSNP:rs3737994). breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCAGTGGGCGACCCCCCCACCT 0.614 10 164 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 10 665 --- --- --- --- HIVEP3 59269 broad.mit.edu 37 1 42049248 42049249 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:42049248_42049249insG ENST00000372584.1 - 3 2234_2235 c.1220_1221insC c.(1219-1221)caafs p.Q407fs HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.Q407fs NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 407 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding 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) CGTTGGTGTTTGGGGGGCTGAC 0.594 11 355 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 9 81 --- --- --- --- S100A8 6279 broad.mit.edu 37 1 153362604 153362605 + Frame_Shift_Ins INS - - T rs150732741 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:153362604_153362605insT ENST00000368733.3 - 3 425_426 c.256_257insA c.(256-258)ccafs p.P86fs S100A8_ENST00000368732.1_Frame_Shift_Ins_p.P86fs NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 86 VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TTCTTCATGGCTTTTTTTGTGG 0.480 7 317 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154246356 154246357 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:154246356_154246357insG ENST00000328703.7 + 3 636_637 c.423_424insG c.(421-426)ttggggfs p.LG141fs HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 141 Involved in HCLS1 binding. F -> L (in SCN3; mild form). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGATCTTTGGGGGGGTCTT 0.554 Kostmann syndrome 9 236 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158596702 158596702 + Frame_Shift_Del DEL C C - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:158596702delC ENST00000368148.3 - 41 5940 c.5760delG c.(5758-5760)tgfs p.W1920fs SPTA1_ENST00000368147.3_Frame_Shift_Del_p.W1917fs|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1920 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATTGCAACTTCCAAGCAGCTA 0.463 205 424 --- --- --- --- IGSF8 93185 broad.mit.edu 37 1 160063924 160063925 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:160063924_160063925insG ENST00000368086.1 - 3 695_696 c.479_480insC c.(478-480)cggfs p.R160fs IGSF8_ENST00000314485.7_Frame_Shift_Ins_p.R160fs|IGSF8_ENST00000460351.1_5'UTR Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 160 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTCGGGGCCCTGGGGGGGCAGC 0.653 7 37 --- --- --- --- ATP6V1B1 525 broad.mit.edu 37 2 71191572 71191573 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:71191572_71191573insC ENST00000234396.4 + 12 1221_1222 c.1148_1149insC c.(1147-1149)tccfs p.S383fs AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 383 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 CCTCAGATCTACCCCCCCATCA 0.545 OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 71 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71839796 71839797 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr2:71839796_71839797insC ENST00000258104.3 + 39 4470_4471 c.4193_4194insC c.(4192-4194)tccfs p.S1398fs DYSF_ENST00000409744.1_Frame_Shift_Ins_p.S1385fs|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.S1398fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.S1429fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.S1430fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000479049.2_3'UTR NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1398 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GAGCTCTACTGCCCCCCCATCA 0.619 7 110 --- --- --- --- IFT122 55764 broad.mit.edu 37 3 129183576 129183577 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr3:129183576_129183577insG ENST00000296266.3 + 8 860_861 c.668_669insG c.(667-669)cggfs p.R223fs IFT122_ENST00000347300.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000348417.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.R223fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.R120fs|IFT122_ENST00000504021.1_Frame_Shift_Ins_p.R125fs|IFT122_ENST00000440957.2_Frame_Shift_Ins_p.R22fs NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 172 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.P223P(1) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 ATCGAGCGGCCGGGGGGCTCCC 0.505 7 271 --- --- --- --- CNGA1 1259 broad.mit.edu 37 4 47939171 47939172 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr4:47939171_47939172insT ENST00000402813.3 - 10 1688_1689 c.1546_1547insA c.(1546-1548)agtfs p.S516fs CNGA1_ENST00000544810.1_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000420489.2_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000358519.4_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000514170.1_Frame_Shift_Ins_p.S447fs P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 447 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 CTCATCAACTGTTTTTTTGTTG 0.327 7 802 --- --- --- --- EPB41L4A 64097 broad.mit.edu 37 5 111615998 111615999 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:111615998_111615999insT ENST00000261486.5 - 3 502_503 c.226_227insA c.(226-228)cctfs p.P76fs NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 76 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TTCAGCAAGGGTTTTTGCAGGA 0.356 8 1344 --- --- --- --- FNDC9 408263 broad.mit.edu 37 5 156769909 156769910 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:156769909_156769910insC ENST00000312349.4 - 2 822_823 c.635_636insG c.(634-636)gggfs p.G212fs CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000318218.6_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 212 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GTGGGTCACCACCCCCCCTCTG 0.584 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 198 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 10 54 --- --- --- --- SLC17A5 26503 broad.mit.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:74351590delA ENST00000355773.5 - 3 617 c.349delT c.(349-351)atfs p.Y117fs SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.Y117fs NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 117 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATGTAGCCATAAAAAAAGGAA 0.423 7 314 --- --- --- --- GJA10 84694 broad.mit.edu 37 6 90605805 90605805 + Frame_Shift_Del DEL A A - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:90605805delA ENST00000369352.1 + 1 1618 c.1618delA c.(1618-1620)aafs p.K540fs NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 540 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) ACATTCAGTTAAATTCAATTC 0.338 23 66 --- --- --- --- PRDM1 639 broad.mit.edu 37 6 106553068 106553069 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:106553068_106553069insA ENST00000369096.4 + 5 1267_1268 c.1033_1034insA c.(1033-1035)aagfs p.K345fs PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.K211fs|PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.K309fs NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 345 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CAGCCCCGACCAAAGCCTCAAG 0.619 """D, N, Mis, F, S""" DLBCL 26 63 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 8 946 --- --- --- --- ANLN 54443 broad.mit.edu 37 7 36438715 36438716 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:36438715_36438716insA ENST00000265748.2 + 3 421_422 c.200_201insA c.(199-201)taafs p.*67fs ANLN_ENST00000396068.2_Frame_Shift_Ins_p.*67fs NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 67 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CCATCGCCATCAAAAAAACGCT 0.347 7 219 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100285169 100285170 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:100285169_100285170insG ENST00000275732.5 - 4 1540_1541 c.331_332insC c.(331-333)ggcfs p.G111fs GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 111 p.L111fs*234(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGTGCCAGCCAGGGGGGGGCCA 0.673 3 4 --- --- --- --- DPYSL2 1808 broad.mit.edu 37 8 26513183 26513184 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr8:26513183_26513184insC ENST00000311151.5 + 14 2092_2093 c.1680_1681insC c.(1678-1683)gcccccfs p.AP560fs DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 560 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GTATCGTGGCGCCCCCCGGTGG 0.644 OREG0018659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 356 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73480091 73480092 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr8:73480091_73480092insG ENST00000523207.1 + 2 710_711 c.122_123insG c.(121-123)gggfs p.G41fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 41 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AAGATCAATGTGGGGGGCCTCA 0.564 7 397 --- --- --- --- CTD-3074O7.11 0 broad.mit.edu 37 11 66299155 66299156 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:66299155_66299156insC ENST00000419755.3 + 16 1826_1827 c.1748_1749insC c.(1747-1749)tccfs p.S583fs ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Frame_Shift_Ins_p.S417fs|BBS1_ENST00000318312.7_Frame_Shift_Ins_p.S546fs|BBS1_ENST00000455748.2_Frame_Shift_Ins_p.S449fs GGGCTCAACTACCCCCTGGAGA 0.540 8 903 --- --- --- --- INPPL1 3636 broad.mit.edu 37 11 71948208 71948209 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:71948208_71948209insC ENST00000298229.2 + 26 3124_3125 c.2920_2921insC c.(2920-2922)cccfs p.P974fs INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.P732fs|INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.P732fs NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 974 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding p.P977fs*7(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AGGGGTGGCGGCCCCCCCACCC 0.634 8 121 --- --- --- --- KIAA1377 57562 broad.mit.edu 37 11 101786091 101786092 + Frame_Shift_Ins INS - - C rs146972831 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:101786091_101786092insC ENST00000263468.8 + 1 346_347 c.76_77insC c.(76-78)cccfs p.P26fs ANGPTL5_ENST00000334289.3_Intron NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 26 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CCTCGACAGAGCCCCCCTCGGC 0.663 7 183 --- --- --- --- TTC12 54970 broad.mit.edu 37 11 113210159 113210160 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:113210159_113210160insG ENST00000393020.1 + 10 1194_1195 c.789_790insG c.(787-792)gcggggfs p.AG263fs TTC12_ENST00000529221.1_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000314756.3_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.AG269fs Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 263 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGTTCTATGCTGGGGGGATTGA 0.500 9 625 --- --- --- --- LINC00477 144360 broad.mit.edu 37 12 24736561 24736562 + RNA INS - - A TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:24736561_24736562insA ENST00000483544.1 - 0 540_541 NR_029451.2 ACTTAAGAAGGAAAAAAAGGGG 0.554 9 114 --- --- --- --- RP11-25I15.2 0 broad.mit.edu 37 12 43072603 43072603 + RNA DEL T T - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:43072603delT ENST00000548764.1 + 0 465 AGAACTCTGCttttttttttt 0.413 6 8 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56531341 56531342 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:56531341_56531342insG ENST00000394048.5 + 18 2261_2262 c.1997_1998insG c.(1996-1998)tggfs p.W666fs ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 666 C2 3. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 GACCGTTTCTTGGGGGGACTGG 0.550 8 376 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132466645 132466646 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:132466645_132466646insC ENST00000333577.4 + 6 1768_1769 c.1659_1660insC c.(1657-1662)atccccfs p.IP553fs EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs Q96L91 EP400_HUMAN E1A binding protein p400 553 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CAGGAGGAATGCCCCCCACGCC 0.589 7 418 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133245023 133245024 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:133245023_133245024insG ENST00000320574.5 - 19 2134_2135 c.2091_2092insC c.(2089-2094)cctgttfs p.V698fs POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 698 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 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) TCTGGGAACAAGGGGGGGAACT 0.599 DNA polymerases (catalytic subunits) 7 149 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64484334 64484336 + In_Frame_Del DEL TAC TAC - rs143578863 by1000genomes TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:64484334_64484336delTAC ENST00000358025.3 + 34 5139_5141 c.4909_4911delTAC c.(4909-4911)del p.Y1638del SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_In_Frame_Del_p.Y1638del|SYNE2_ENST00000554584.1_In_Frame_Del_p.Y1638del NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1638 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GACAGAAGATTACTATGAAAATC 0.335 62 119 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:63918305_63918306insG ENST00000443617.2 - 71 13240_13241 c.13153_13154insC c.(13153-13155)gtafs p.V4385fs NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4385 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CGCCCCATACTGGGGGGGCACT 0.559 9 94 --- --- --- --- NFE2L1 4779 broad.mit.edu 37 17 46135787 46135788 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:46135787_46135788insG ENST00000362042.3 + 6 1719_1720 c.1103_1104insG c.(1102-1104)cggfs p.R368fs NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.R169fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.R212fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.R180fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.R357fs NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 368 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAGGCGTCCCTGGGGGGCTGCA 0.604 9 422 --- --- --- --- C3 718 broad.mit.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G rs137956083 TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:6697480_6697481insG ENST00000245907.6 - 21 2762_2763 c.2670_2671insC c.(2668-2673)ccagtcfs p.V891fs NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 891 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATGG 0.574 8 151 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8196624 8196625 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:8196624_8196625insC ENST00000600128.1 - 15 2217_2218 c.1803_1804insG c.(1801-1806)ggtggcfs p.G602fs FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs Q75N90 FBN3_HUMAN fibrillin 3 602 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTACCGCCAGCCCCCCCAGGC 0.678 7 27 --- --- --- --- DMPK 1760 broad.mit.edu 37 19 46283129 46283130 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr19:46283129_46283130insG ENST00000600757.1 - 1 875_876 c.188_189insC c.(187-189)cgcfs p.R63fs DMPK_ENST00000458663.2_Splice_Site|DMPK_ENST00000447742.2_Splice_Site|DMPK_ENST00000354227.5_Splice_Site|DMPK_ENST00000343373.4_Frame_Shift_Ins_p.R63fs|AC011530.4_ENST00000593999.1_Splice_Site|DMPK_ENST00000291270.4_Splice_Site Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 63 regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) TGGGCTCCGCTGGGGGGGTGGT 0.619 4 5 --- --- --- --- ZFP64 55734 broad.mit.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr20:50769075_50769076insG ENST00000216923.4 - 6 2004_2005 c.1655_1656insC c.(1654-1656)ccafs p.P552fs ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GCGAGGACTGAGGGGGGGCGAT 0.673 8 58 --- --- --- --- PARVG 64098 broad.mit.edu 37 22 44586474 44586474 + Frame_Shift_Del DEL G G - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr22:44586474delG ENST00000422871.1 + 7 856 c.432delG c.(430-432)gtfs p.V144fs PARVG_ENST00000415224.1_Frame_Shift_Del_p.V144fs|PARVG_ENST00000444313.2_Frame_Shift_Del_p.V144fs NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 144 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) ACCTCCTTGTGGCCCTGGCCA 0.602 38 66 --- --- --- --- GPR64 10149 broad.mit.edu 37 X 19009002 19009003 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:19009002_19009003insT ENST00000354791.3 - 28 3226_3227 c.2985_2986insA c.(2983-2988)ttacttfs p.L996fs GPR64_ENST00000379876.1_Frame_Shift_Ins_p.L988fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.L1012fs|GPR64_ENST00000379873.2_Frame_Shift_Ins_p.L961fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.L990fs|GPR64_ENST00000340581.3_Frame_Shift_Ins_p.L893fs|GPR64_ENST00000379878.3_Frame_Shift_Ins_p.L996fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.L1009fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.L998fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.L982fs Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 1012 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TCAATAAAGTGTAAGCTTCCCC 0.396 7 363 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47041662 47041663 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:47041662_47041663insG ENST00000377604.3 + 17 2629_2630 c.1887_1888insG c.(1885-1890)acgggcfs p.TG629fs RBM10_ENST00000345781.6_Frame_Shift_Ins_p.TG552fs|RBM10_ENST00000329236.7_Frame_Shift_Ins_p.TG551fs|RBM10_ENST00000468791.1_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 629 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ATAAGGAGACAGGGGCACCCTC 0.574 7 24 --- --- --- --- HSD17B10 3028 broad.mit.edu 37 X 53458819 53458820 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:53458819_53458820insC ENST00000168216.6 - 5 548_549 c.521_522insG c.(520-522)gatfs p.D174fs HSD17B10_ENST00000375304.5_Frame_Shift_Ins_p.D174fs|HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375298.4_Intron NM_001037811.2|NM_004493.2 NP_001032900.1|NP_004484.1 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 174 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 8 NADH(DB00157) TGCCCACTATTCCCCCCTTGGA 0.525 7 493 --- --- --- --- MAGED2 10916 broad.mit.edu 37 X 54841728 54841728 + Frame_Shift_Del DEL G G - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:54841728delG ENST00000375068.1 + 12 1667 c.1434delG c.(1432-1434)gcfs p.A478fs MAGED2_ENST00000375062.4_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000343474.6_Frame_Shift_Del_p.A460fs|MAGED2_ENST00000396224.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375053.2_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375060.1_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.A422fs Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 478 MAGE. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 ACCGAGAGGCGATGGAAGCGG 0.512 76 191 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 8 94 --- --- --- --- RAB40A 142684 broad.mit.edu 37 X 102755540 102755541 + Frame_Shift_Ins INS - - C rs139170788 byFrequency TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:102755540_102755541insC ENST00000372633.1 - 1 2262_2263 c.144_145insG c.(142-147)ggtcgafs p.R49fs RAB40A_ENST00000304236.1_Frame_Shift_Ins_p.R49fs Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 49 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 TTGTAGTCGATCCCCCCGAGAT 0.594 8 588 --- --- --- --- FRMPD3 84443 broad.mit.edu 37 X 106845402 106845403 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:106845402_106845403insG ENST00000276185.4 + 16 4232_4233 c.4232_4233insG c.(4231-4233)tggfs p.W1411fs Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1411 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 ACGTGTGCCTCGGGGGGCGAGT 0.609 10 351 --- --- --- --- PLAC1 10761 broad.mit.edu 37 X 133700524 133700525 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01W-0928-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:133700524_133700525insG ENST00000359237.4 - 3 473_474 c.188_189insC c.(187-189)caafs p.Q63fs PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 63 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) GAACATGGTTTGGGGGGCAACC 0.510 7 431 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 12 854 --- --- --- --- ADC 113451 broad.mit.edu 37 1 33583673 33583674 + Frame_Shift_Ins INS - - C TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:33583673_33583674insC ENST00000294517.6 + 11 1787_1788 c.1200_1201insC c.(1198-1203)ggcccafs p.GP400fs ADC_ENST00000373443.3_Frame_Shift_Ins_p.GP400fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.GP420fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.GP420fs|ADC_ENST00000484656.1_3'UTR NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 400 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CCTTTTGGGGGACCCAGGCCTG 0.624 8 252 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158596702 158596702 + Frame_Shift_Del DEL C C - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr1:158596702delC ENST00000368148.3 - 41 5940 c.5760delG c.(5758-5760)tgfs p.W1920fs SPTA1_ENST00000368147.3_Frame_Shift_Del_p.W1917fs|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1920 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATTGCAACTTCCAAGCAGCTA 0.463 58 143 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 7 388 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 15 371 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 8 266 --- --- --- --- GJA10 84694 broad.mit.edu 37 6 90605805 90605805 + Frame_Shift_Del DEL A A - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:90605805delA ENST00000369352.1 + 1 1618 c.1618delA c.(1618-1620)aafs p.K540fs NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 540 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) ACATTCAGTTAAATTCAATTC 0.338 10 41 --- --- --- --- PRDM1 639 broad.mit.edu 37 6 106553068 106553069 + Frame_Shift_Ins INS - - A TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr6:106553068_106553069insA ENST00000369096.4 + 5 1267_1268 c.1033_1034insA c.(1033-1035)aagfs p.K345fs PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.K309fs|PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.K211fs NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 345 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CAGCCCCGACCAAAGCCTCAAG 0.619 """D, N, Mis, F, S""" DLBCL 60 214 --- --- --- --- TRGC2 6967 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 10 89 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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 endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 12 108 --- --- --- --- CALML5 51806 broad.mit.edu 37 10 5541067 5541068 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr10:5541067_5541068insG ENST00000380332.3 - 1 465_466 c.334_335insC c.(334-336)gccfs p.A112fs NM_017422.4 NP_059118.2 Q9NZT1 CALL5_HUMAN calmodulin-like 5 112 EF-hand 3. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 CGGCAGCGGCTGCCCCAGCCCC 0.713 7 17 --- --- --- --- RP11-428C19.4 0 broad.mit.edu 37 11 19296085 19296085 + RNA DEL T T - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:19296085delT ENST00000527978.1 + 0 339 aaaaaaaaaGTCCCATATTAG 0.468 3 6 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 8 178 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 7 528 --- --- --- --- IL25 64806 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 10 397 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64484334 64484336 + In_Frame_Del DEL TAC TAC - rs143578863 by1000genomes TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr14:64484334_64484336delTAC ENST00000358025.3 + 34 5139_5141 c.4909_4911delTAC c.(4909-4911)del p.Y1638del SYNE2_ENST00000554584.1_In_Frame_Del_p.Y1638del|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_In_Frame_Del_p.Y1638del NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1638 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GACAGAAGATTACTATGAAAATC 0.335 58 196 --- --- --- --- ADPGK 83440 broad.mit.edu 37 15 73044826 73044827 + Frame_Shift_Ins INS - - T TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:73044826_73044827insT ENST00000311669.8 - 7 1439_1440 c.1346_1347insA c.(1345-1347)accfs p.T449fs ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.T175fs NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 450 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 CTACTACTGGCTTGTTTGGGTT 0.490 7 277 --- --- --- --- CSPG4 1464 broad.mit.edu 37 15 75981842 75981854 + Frame_Shift_Del DEL CCTCCAGCACCAG CCTCCAGCACCAG - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr15:75981842_75981854delCCTCCAGCACCAG ENST00000308508.5 - 3 1644_1656 c.1552_1564delCTGGTGCTGGAGG c.(1552-1566)tgfs p.LVLEV518fs NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 518 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GTCACCGACACCTCCAGCACCAGCTGGTCGGAG 0.624 19 147 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 21 804 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 8 704 --- --- --- --- LCAT 3931 broad.mit.edu 37 16 67973970 67973971 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr16:67973970_67973971insG ENST00000264005.5 - 6 1188_1189 c.1159_1160insC c.(1159-1161)gccfs p.A387fs NM_000229.1 NP_000220.1 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase 387 cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) AGGCTGTGGCTGGCGGCCCTGC 0.629 7 288 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding 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) tggtggtgcggctgctgctgctg 0.591 7 236 --- --- --- --- PARVG 64098 broad.mit.edu 37 22 44586474 44586474 + Frame_Shift_Del DEL G G - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chr22:44586474delG ENST00000422871.1 + 7 856 c.432delG c.(430-432)gtfs p.V144fs PARVG_ENST00000415224.1_Frame_Shift_Del_p.V144fs|PARVG_ENST00000444313.2_Frame_Shift_Del_p.V144fs NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 144 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) ACCTCCTTGTGGCCCTGGCCA 0.602 52 269 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47041662 47041663 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:47041662_47041663insG ENST00000377604.3 + 17 2629_2630 c.1887_1888insG c.(1885-1890)acgggcfs p.TG629fs RBM10_ENST00000329236.7_Frame_Shift_Ins_p.TG551fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.TG552fs NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 629 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ATAAGGAGACAGGGGCACCCTC 0.574 28 72 --- --- --- --- MAGED2 10916 broad.mit.edu 37 X 54841728 54841728 + Frame_Shift_Del DEL G G - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:54841728delG ENST00000375068.1 + 12 1667 c.1434delG c.(1432-1434)gcfs p.A478fs MAGED2_ENST00000375053.2_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375062.4_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000375060.1_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.A422fs|MAGED2_ENST00000396224.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000343474.6_Frame_Shift_Del_p.A460fs Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 478 MAGE. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 ACCGAGAGGCGATGGAAGCGG 0.512 39 152 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 94 --- --- --- --- PNMA3 29944 broad.mit.edu 37 X 152225996 152225997 + Frame_Shift_Ins INS - - G TCGA-67-3770-01A-01D-0969-08 TCGA-67-3770-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0769c88-4308-4bd2-8bfc-fb00e3c04d64 a3e3a62a-bd62-4063-b9b5-bbf8138d6c97 g.chrX:152225996_152225997insG ENST00000447306.1 + 2 920_921 c.584_585insG c.(583-585)cgtfs p.R195fs PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 195 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) cagatgtggcaggtgcccgagg 0.574 7 426 --- --- --- ---