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 LDHAL6B 92483 broad.mit.edu 37 15 59499557 59499557 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:59499557C>A ENST00000307144.4 + 1 516 c.418C>A c.(418-420)Cta>Ata p.L140I MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 140 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) AAACTCCAACCTAGTGATTAT 0.428000 75 78 3.41413e-29 5.15223e-29 0.870114 1 0 DCDC1 341019 broad.mit.edu 37 11 31312227 31312227 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:31312227A>C ENST00000597505.1 - 5 926 c.927T>G c.(925-927)caT>caG p.H309Q DCDC1_ENST00000452803.1_Missense_Mutation_p.H309Q P59894 DCDC1_HUMAN doublecortin domain containing 1 309 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CTGTAATCTCATGCCCATCCT 0.348000 32 41 0 0 0.760397 0 0 CHD7 55636 broad.mit.edu 37 8 61774827 61774827 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:61774827A>T ENST00000423902.2 + 36 8382 c.7903A>T c.(7903-7905)Aaa>Taa p.K2635* CHD7_ENST00000524602.1_Nonsense_Mutation_p.K586* NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2635 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAACCCTAATAAATTGGATAT 0.368000 11 14 0 0 0.387290 0 0 KCNU1 157855 broad.mit.edu 37 8 36698451 36698451 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:36698451C>A ENST00000399881.3 + 16 1670 c.1631_splice c.e16-1 p.L545_splice NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 545 Segment S8. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCTTCCCAGGCTCTGCTTTCT 0.463000 10 27 1.33987e-11 1.65984e-11 0.361761 1 0 FAM153A 285596 broad.mit.edu 37 5 177158588 177158588 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:177158588G>A ENST00000440605.3 - 15 896 c.613C>T c.(613-615)Cca>Tca p.P205S FAM153A_ENST00000510276.1_Missense_Mutation_p.P205S|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Missense_Mutation_p.P73S NM_173663.3 NP_775934.3 Q9UHL3 F153A_HUMAN family with sequence similarity 153, member A 205 kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCGTGGCTGGGTCCACCTGC 0.463000 31 17 0 0 0.796494 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767876 77767876 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:77767876C>G ENST00000521891.2 + 10 9167 c.8719C>G c.(8719-8721)Ccg>Gcg p.P2907A ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2881A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2862A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2862A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2862 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATAGCGGACCCGAGCTCCCC 0.502000 HNSCC(33;0.089) 21 28 0 0 0.608945 0 0 ZNF607 84775 broad.mit.edu 37 19 38189117 38189117 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:38189117G>T ENST00000355202.4 - 5 2510 c.1915C>A c.(1915-1917)Cat>Aat p.H639N CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H638N NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CCATCAGCATGAACGCTTTCA 0.378000 61 67 1.45723e-30 2.22949e-30 0.870114 1 0 ARHGEF10 9639 broad.mit.edu 37 8 1844550 1844550 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:1844550A>G ENST00000518288.1 + 15 1730 c.1567A>G c.(1567-1569)Agc>Ggc p.S523G ARHGEF10_ENST00000398560.1_Missense_Mutation_p.S484G|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.S523G|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S523G|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S460G|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S498G O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 523 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GAACAATTTCAGCACAGCCGT 0.403000 41 57 0 0 0.827153 0 0 UNC13C 440279 broad.mit.edu 37 15 54685309 54685309 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:54685309C>G ENST00000545554.1 + 17 4777 c.4777C>G c.(4777-4779)Ccc>Gcc p.P1593A UNC13C_ENST00000537900.1_Missense_Mutation_p.P1591A|UNC13C_ENST00000260323.11_Missense_Mutation_p.P1593A Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1593 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) GGATTTTTGGCCCCAACTTAT 0.393000 29 35 0 0 0.740014 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481614 140481614 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140481614C>T ENST00000231130.2 + 1 1381 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 461 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGTTCGTCCGCGAGAACAA 0.602000 113 111 0 0 0.870114 0 0 IQCB1 9657 broad.mit.edu 37 3 121547406 121547406 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:121547406G>A ENST00000310864.6 - 4 388 c.174C>T c.(172-174)ctC>ctT p.L58L IQCB1_ENST00000349820.6_Silent_p.L58L NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 58 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) AATATTGAATGAGATCATAAC 0.328000 22 39 0 0 0.608945 0 0 SYNE2 23224 broad.mit.edu 37 14 64634322 64634322 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:64634322C>T ENST00000357395.3 + 93 17169 c.6025C>T c.(6025-6027)Ctt>Ttt p.L2009F SYNE2_ENST00000555002.1_Missense_Mutation_p.L2258F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5499F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5624F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2009F|SYNE2_ENST00000344113.4_Missense_Mutation_p.L5624F Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5624 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) GGCTAACAGCCTTCCTGAGCT 0.458000 18 44 0 0 0.539581 0 0 GSTO2 119391 broad.mit.edu 37 10 106037800 106037800 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:106037800C>T ENST00000450629.2 + 4 920 c.292C>T c.(292-294)Cca>Tca p.P98S GSTO2_ENST00000338595.2_Missense_Mutation_p.P98S|GSTO2_ENST00000369707.1_Missense_Mutation_p.P70S|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000401888.2_Missense_Mutation_p.P98S|GSTO2_ENST00000429569.2_Missense_Mutation_p.P70S NM_001191013.1 NP_001177942.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 98 GST N-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TGATGCTTATCCAGGAAGGAA 0.408000 26 42 0 0 0.667858 0 0 MET 4233 broad.mit.edu 37 7 116397705 116397705 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:116397705C>G ENST00000397752.3 + 8 2179 c.1979C>G c.(1978-1980)aCa>aGa p.T660R MET_ENST00000436117.2_Missense_Mutation_p.T660R|MET_ENST00000318493.6_Missense_Mutation_p.T660R NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 660 IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CCTGTAATAACAAGTATTTCG 0.333000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 25 42 0 0 0.667858 0 0 RGS10 6001 broad.mit.edu 37 10 121275037 121275037 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:121275037T>C ENST00000392865.1 - 4 403 c.341A>G c.(340-342)cAg>cGg p.Q114R RGS10_ENST00000369101.3_Missense_Mutation_p.Q120R|RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369103.2_Missense_Mutation_p.Q128R NM_002925.3 NP_002916.1 O43665 RGS10_HUMAN regulator of G-protein signaling 10 120 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|large_intestine(1)|lung(3) 6 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) CTGGAGTTTCTGGAACATCAG 0.512000 15 33 0 0 0.479597 0 0 LOC440040 440040 broad.mit.edu 37 11 49597924 49597924 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:49597924G>T ENST00000527477.1 + 0 528 TCTCTTTTCTGTTCATCACCA 0.512000 8 32 0.000157383 0.0001702 0.278610 1 0 PANK1 53354 broad.mit.edu 37 10 91404709 91404709 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:91404709C>T ENST00000307534.4 - 1 506 c.351G>A c.(349-351)gaG>gaA p.E117E NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 117 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) GGAGGTCATTCTCCGGCGTCT 0.741000 8 18 0 0 0.278610 0 0 SLC34A1 6569 broad.mit.edu 37 5 176824901 176824901 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:176824901C>T ENST00000324417.5 + 13 1625 c.1534C>T c.(1534-1536)Cgc>Tgc p.R512C SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 512 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCAAGTACCGCTGGTTTGC 0.607000 62 62 0 0 0.870114 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480970 140480970 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140480970T>A ENST00000231130.2 + 1 737 c.737T>A c.(736-738)cTc>cAc p.L246H AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 246 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACAGCCGCTCTATGAGGTT 0.493000 53 65 0 0 0.870114 0 0 GOLIM4 27333 broad.mit.edu 37 3 167813020 167813020 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:167813020C>A ENST00000470487.1 - 1 743 c.54G>T c.(52-54)ctG>ctT p.L18L GOLIM4_ENST00000309027.4_Silent_p.L18L NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 18 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CGGTCAGCAGCAGCAGCGTCT 0.647000 11 19 2.27111e-07 2.5911e-07 0.411799 1 0 OR5F1 338674 broad.mit.edu 37 11 55762023 55762023 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:55762023G>C ENST00000278409.1 - 1 78 c.79C>G c.(79-81)Ctc>Gtc p.L27V NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) AACAAAAAGAGGATAATCTGT 0.383000 34 45 0 0 0.760397 0 0 MYO7A 4647 broad.mit.edu 37 11 76853808 76853808 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:76853808C>A ENST00000409709.3 + 3 344 c.72C>A c.(70-72)atC>atA p.I24I MYO7A_ENST00000409893.1_Silent_p.I24I|MYO7A_ENST00000409619.2_Silent_p.I13I|MYO7A_ENST00000458637.2_Silent_p.I24I NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 24 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACGTGCCCATCGGGGCGGTGG 0.622000 3 11 0.00909568 0.00940737 0.150653 1 0 NDUFA13 51079 broad.mit.edu 37 19 19626988 19626988 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:19626988A>G ENST00000252576.5 + 1 190 c.190A>G c.(190-192)Atc>Gtc p.I64V NDUFA13_ENST00000507754.3_5'UTR NM_015965.6 NP_057049.5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 CGCCACACTCATCATGGCGGT 0.632000 4 43 0 0 0.150653 0 0 PIK3R1 5295 broad.mit.edu 37 5 67575530 67575530 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:67575530C>T ENST00000521381.1 + 5 1219 c.603C>T c.(601-603)gcC>gcT p.A201A PIK3R1_ENST00000521657.1_Silent_p.A201A|PIK3R1_ENST00000274335.5_Silent_p.A201A|PIK3R1_ENST00000396611.1_Silent_p.A201A NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 201 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTCCAGCAGCCGTTTACAGTG 0.433000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 43 58 0 0 0.870114 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270306 18270306 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:18270306G>C ENST00000377369.2 + 6 1263 c.990G>C c.(988-990)aaG>aaC p.K330N SLC39A12_ENST00000377374.4_Missense_Mutation_p.K330N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.K330N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.K196N NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 330 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TCATTTCTAAGGAGGACTTTA 0.488000 26 60 0 0 0.681144 0 0 FLRT2 23768 broad.mit.edu 37 14 86088015 86088015 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:86088015A>T ENST00000330753.4 + 2 924 c.157A>T c.(157-159)Agc>Tgc p.S53C FLRT2_ENST00000554746.1_Missense_Mutation_p.S53C NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 53 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAATGAGCGAAGCTTGACCTC 0.512000 41 73 0 0 0.859065 0 0 NRXN3 9369 broad.mit.edu 37 14 79175866 79175866 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:79175866G>C ENST00000554719.1 + 4 900 c.409G>C c.(409-411)Gtg>Ctg p.V137L RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.V137L NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 141 Laminin G-like. angiogenesis|cell adhesion integral to membrane p.V137M(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTTCTTTGCCGTGGAACTCCT 0.507000 27 73 0 0 0.681144 0 0 GTF3C1 2975 broad.mit.edu 37 16 27518169 27518169 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:27518169C>A ENST00000356183.4 - 9 1566 c.1552_splice c.e9+1 p.K517_splice GTF3C1_ENST00000561623.1_Splice_Site_p.K517_splice NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 517 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCTCCCTACCCTTGGTTGGGG 0.622000 4 3 8.12818e-05 8.81881e-05 0.248553 1 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986046 31986046 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:31986046C>T ENST00000329122.2 - 1 203 c.178G>A c.(178-180)Ggc>Agc p.G60S NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 60 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 CATCCATAGCCATAGCCACAG 0.562000 36 128 0 0 0.788014 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39479766 39479766 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:39479766C>A ENST00000407997.3 + 5 969 c.612C>A c.(610-612)ttC>ttA p.F204L APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.F204L NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) CATTCACTTTCAACTTTAACA 0.547000 31 41 4.31634e-10 5.21099e-10 0.760397 1 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 36 0 0 0.115264 0 0 PTPN14 5784 broad.mit.edu 37 1 214557195 214557195 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:214557195C>G ENST00000366956.5 - 13 2197 c.2003G>C c.(2002-2004)cGc>cCc p.R668P PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 668 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GAGCGTGTTGCGGCGAGCCAT 0.647000 14 29 0 0 0.500413 0 0 ADAM11 4185 broad.mit.edu 37 17 42853010 42853010 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:42853010T>G ENST00000200557.6 + 17 1620 c.1451T>G c.(1450-1452)aTg>aGg p.M484R ADAM11_ENST00000535346.1_Missense_Mutation_p.M284R NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 484 Disintegrin. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) CACGACGCCATGTGCAGCGAC 0.667000 4 3 0 0 0.184627 0 0 OR4F15 390649 broad.mit.edu 37 15 102358657 102358657 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:102358657A>C ENST00000332238.4 + 1 292 c.268A>C c.(268-270)Aag>Cag p.K90Q NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CAAGAAGCACAAGGCCATCTC 0.453000 75 89 0 0 0.870114 0 0 C6orf222 389384 broad.mit.edu 37 6 36298043 36298043 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:36298043G>C ENST00000437635.2 - 2 602 c.425C>G c.(424-426)cCa>cGa p.P142R NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 142 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CCTGAGGGCTGGCTCCCCTGC 0.627000 40 62 0 0 0.827153 0 0 SPTBN5 51332 broad.mit.edu 37 15 42172497 42172497 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:42172497C>A ENST00000320955.6 - 14 2899 c.2672G>T c.(2671-2673)cGg>cTg p.R891L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 891 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTCCTCCAACCGGGCCCTGCG 0.667000 8 11 0.000673444 0.000718918 0.361761 1 0 GTSE1 51512 broad.mit.edu 37 22 46712020 46712020 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:46712020G>T ENST00000454366.1 + 7 1355 c.1143G>T c.(1141-1143)ctG>ctT p.L381L NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 362 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CCGCCATGCTGCGGCCAGCTC 0.592000 26 37 5.71845e-15 7.5941e-15 0.812448 1 0 DPP3 10072 broad.mit.edu 37 11 66264796 66264796 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:66264796C>T ENST00000532677.1 + 16 2184 c.1783C>T c.(1783-1785)Ctg>Ttg p.L595L DPP3_ENST00000360510.2_Silent_p.L576L|DPP3_ENST00000531863.1_Silent_p.L596L|DPP3_ENST00000453114.1_Silent_p.L576L|DPP3_ENST00000530165.1_Silent_p.L546L|DPP3_ENST00000541961.1_Silent_p.L576L NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 576 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GTTTGTGATCCTGAGAGTCTT 0.617000 18 40 0 0 0.539581 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149475 45149475 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:45149475T>A ENST00000458659.2 - 1 1226 c.736A>T c.(736-738)Agt>Tgt p.S246C TSC22D1_ENST00000501704.2_Missense_Mutation_p.S246C NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 246 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ATGGATGCACTGGCCACAGCA 0.517000 26 23 0 0 0.667858 0 0 LRP1B 53353 broad.mit.edu 37 2 141294160 141294160 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:141294160C>A ENST00000389484.3 - 46 8603 c.7632G>T c.(7630-7632)ctG>ctT p.L2544L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2544 LDL-receptor class A 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACAGTAGAGCAGTTTTTCAT 0.408000 TSP Lung(27;0.18) 51 65 4.86159e-25 7.14181e-25 0.870114 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215502 140215502 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140215502G>T ENST00000525929.1 + 1 1534 c.1534G>T c.(1534-1536)Gcg>Tcg p.A512S PCDHA7_ENST00000378125.3_Missense_Mutation_p.A512S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCAGTGCACGCGGAGAGCGG 0.701000 76 96 3.83088e-25 5.65267e-25 0.870114 1 0 ZIC4 84107 broad.mit.edu 37 3 147108741 147108741 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:147108741C>G ENST00000383075.3 - 4 1493 c.981G>C c.(979-981)gcG>gcC p.A327A ZIC4_ENST00000525172.2_Silent_p.A377A|ZIC4_ENST00000484399.1_Silent_p.A327A|ZIC4_ENST00000491672.1_Silent_p.A121A|ZIC4_ENST00000473123.1_Silent_p.A327A|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Silent_p.A365A NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 327 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CGGCGGTACGCGCCGCCACCG 0.701000 10 14 0 0 0.387290 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827131 43827131 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:43827131T>A ENST00000420765.1 - 31 4225 c.4043A>T c.(4042-4044)aAg>aTg p.K1348M PPIP5K1_ENST00000381879.4_Missense_Mutation_p.K1324M|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.K1323M|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.K1321M|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.K1321M|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.K1344M|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.K1323M|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.K1348M NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1348 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 large_intestine(1) 1 ATGGACCAGCTTGCCAACCTC 0.552000 66 50 0 0 0.870114 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811010 65811010 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:65811010C>A ENST00000312006.4 - 3 545 c.264G>T c.(262-264)gaG>gaT p.E88D GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E88D NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 88 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GGTTGTGGCGCTCGGCAAAGC 0.662000 4 20 0.150653 0.152491 0.150653 1 0 FURIN 5045 broad.mit.edu 37 15 91421523 91421523 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:91421523G>T ENST00000268171.3 + 8 1108 c.829G>T c.(829-831)Ggg>Tgg p.G277W NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 277 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTTCTTCCGTGGGGTTAGCCA 0.587000 17 14 5.26018e-13 6.69111e-13 0.608945 1 0 ATP11A 23250 broad.mit.edu 37 13 113536255 113536255 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:113536255A>T ENST00000375630.2 + 29 3541 c.3453A>T c.(3451-3453)acA>acT p.T1151T ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR NM_032189.3 NP_115565.3 P98196 AT11A_HUMAN ATPase, class VI, type 11A 0 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AGCAGGTGACACTCGCGGCCT 0.632000 27 46 0 0 0.693898 0 0 ZEB1 6935 broad.mit.edu 37 10 31810827 31810827 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:31810827A>C ENST00000446923.2 + 7 2907 c.2516A>C c.(2515-2517)gAa>gCa p.E839A ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.E788A|ZEB1_ENST00000320985.10_Missense_Mutation_p.E855A|ZEB1_ENST00000361642.5_Missense_Mutation_p.E856A|ZEB1_ENST00000560721.2_Missense_Mutation_p.E835A NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 855 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GCAGTCCAAGAACCACCCTTG 0.438000 26 52 0 0 0.706142 0 0 ITLN1 55600 broad.mit.edu 37 1 160849122 160849122 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:160849122G>T ENST00000326245.3 - 7 883 c.768C>A c.(766-768)gtC>gtA p.V256V ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 256 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACATCCGGTGACCCTCATTC 0.507000 46 88 8.72198e-27 1.29852e-26 0.870114 1 0 TTN 7273 broad.mit.edu 37 2 179584097 179584097 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:179584097C>A ENST00000589042.1 - 83 24244 c.24020G>T c.(24019-24021)cGa>cTa p.R8007L TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6763L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7690L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7690 Ig-like 62. 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) GCCAGAGACTCGGCACTCCAA 0.517000 31 95 1.08312e-15 1.47375e-15 0.740014 1 0 OR51D1 390038 broad.mit.edu 37 11 4661103 4661103 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:4661103G>A ENST00000357605.2 + 1 159 c.83G>A c.(82-84)gGt>gAt p.G28D NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTTTGGTGGGTATCCCTGGC 0.512000 63 68 0 0 0.870114 0 0 DCLK3 85443 broad.mit.edu 37 3 36779060 36779060 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:36779060T>C ENST00000416516.2 - 2 1581 c.1091A>G c.(1090-1092)gAt>gGt p.D364G NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 364 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 AAAGTTCCCATCCCCAATGAC 0.577000 19 56 0 0 0.592651 0 0 ESPNP 284729 broad.mit.edu 37 1 17023143 17023143 + RNA SNP C C T rs559507 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:17023143C>T ENST00000492551.1 - 0 1720 NR_026567.1 TGTGGGGCTCCGGACTGGTAA 0.692000 9 41 0 0 0.307466 0 0 ZNF536 9745 broad.mit.edu 37 19 31040381 31040381 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:31040381C>T ENST00000355537.3 + 4 4002 c.3855C>T c.(3853-3855)agC>agT p.S1285S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TTGCAAGTAGCACAGCAAATT 0.493000 41 59 0 0 0.840704 0 0 RYR2 6262 broad.mit.edu 37 1 237947838 237947838 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:237947838G>T ENST00000366574.2 + 90 13143 c.12826G>T c.(12826-12828)Gtg>Ttg p.V4276L RYR2_ENST00000542537.1_Missense_Mutation_p.V4260L|RYR2_ENST00000360064.6_Missense_Mutation_p.V4282L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4276 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.V4274L(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) AAAGATGACCGTGAAGGACAT 0.468000 23 26 1.96895e-08 2.27767e-08 0.639603 1 0 CPXM1 56265 broad.mit.edu 37 20 2774857 2774857 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:2774857C>A ENST00000380605.2 - 14 2248 c.2184G>T c.(2182-2184)cgG>cgT p.R728R NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 728 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GTCCCCTTAGCCGCTCCAGGC 0.612000 29 69 2.08457e-15 2.79063e-15 0.750413 1 0 PAIP1 10605 broad.mit.edu 37 5 43537010 43537010 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:43537010T>A ENST00000306846.3 - 6 1115 c.883A>T c.(883-885)Att>Ttt p.I295F PAIP1_ENST00000514514.1_Missense_Mutation_p.I216F|PAIP1_ENST00000436644.2_Missense_Mutation_p.I216F|PAIP1_ENST00000338972.4_Missense_Mutation_p.I183F NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 295 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) ACCTGAAGAATATCTGCTCTT 0.338000 6 65 0 0 0.248553 0 0 PMF1 11243 broad.mit.edu 37 1 156203520 156203520 + Splice_Site SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:156203520G>T ENST00000368277.3 + 3 377 c.e3+1 PMF1_ENST00000368273.4_Splice_Site|PMF1_ENST00000368279.3_Splice_Site|PMF1-BGLAP_ENST00000320139.5_Splice_Site|PMF1-BGLAP_ENST00000368276.4_Splice_Site|PMF1_ENST00000567140.1_Splice_Site|PMF1_ENST00000565805.1_Splice_Site|PMF1-BGLAP_ENST00000490491.1_Splice_Site NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) AGCCAGCCTGGTGAGAGTGGG 0.468000 52 87 1.30916e-28 1.95785e-28 0.870114 1 0 IL2 3558 broad.mit.edu 37 4 123377319 123377319 + Nonsense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:123377319T>A ENST00000226730.4 - 2 471 c.187A>T c.(187-189)Aag>Tag p.K63* NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 63 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) ATGTAAAACTTAAATGTGAGC 0.284000 T TNFRSF17 intestinal T-cell lymphoma 15 41 0 0 0.479597 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 76 0 0 0.150653 0 0 SNX7 51375 broad.mit.edu 37 1 99203889 99203889 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:99203889G>T ENST00000306121.3 + 8 1231 c.1222G>T c.(1222-1224)Gat>Tat p.D408Y SNX7_ENST00000370189.5_Intron|SNX7_ENST00000529992.1_Missense_Mutation_p.D353Y NM_015976.4 NP_057060.2 Q9UNH6 SNX7_HUMAN sorting nexin 7 344 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TATGCAAAATGATATCAAGTT 0.338000 25 79 4.87955e-14 6.35299e-14 0.693898 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55065640 55065640 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:55065640G>T ENST00000526016.1 - 0 68 NR_038174.2 AAACAGGGCCGGCAAAAGCTG 0.493000 25 51 3.08376e-08 3.55489e-08 0.654019 1 0 SLC12A7 10723 broad.mit.edu 37 5 1064054 1064054 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:1064054C>A ENST00000264930.5 - 20 2687 c.2644G>T c.(2644-2646)Gcc>Tcc p.A882S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 882 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCACCTGGGCCACGGTGAAG 0.627000 23 40 4.16121e-05 4.54448e-05 0.639603 1 0 NUP98 4928 broad.mit.edu 37 11 3714511 3714511 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:3714511G>T ENST00000324932.7 - 27 4682 c.4262C>A c.(4261-4263)cCa>cAa p.P1421Q NUP98_ENST00000355260.3_Missense_Mutation_p.P1421Q|NUP98_ENST00000359171.4_Missense_Mutation_p.P1421Q NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1438 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GGAGGCTGTTGGTGGAAGCAA 0.463000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 50 115 7.77372e-23 1.13695e-22 0.870114 1 0 PTPRD 5789 broad.mit.edu 37 9 8340442 8340442 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:8340442C>A ENST00000381196.4 - 39 5697 c.5154G>T c.(5152-5154)caG>caT p.Q1718H PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1718H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1311H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1696H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1705H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1312H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1308H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1311H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1311H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1308H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1718H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1718 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCAAGGGCCCCTGGGTAGCGA 0.458000 TSP Lung(15;0.13) 25 22 0.00047179 0.000508553 0.654019 1 0 KIF21A 55605 broad.mit.edu 37 12 39734815 39734815 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:39734815T>A ENST00000395670.3 - 15 2422 c.2003A>T c.(2002-2004)cAg>cTg p.Q668L KIF21A_ENST00000361418.5_Missense_Mutation_p.Q668L|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q655L|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q655L|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q655L Q7Z4S6 KI21A_HUMAN kinesin family member 21A 668 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CAGTCTTTTCTGGCTGTTTTC 0.363000 14 12 0 0 0.457914 0 0 ANKRD55 79722 broad.mit.edu 37 5 55472081 55472081 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:55472081A>G ENST00000341048.4 - 4 361 c.210T>C c.(208-210)tcT>tcC p.S70S ANKRD55_ENST00000513241.2_Silent_p.S41S|ANKRD55_ENST00000504958.2_Silent_p.S70S NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 69 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CTTGACGTCCAGAAACCGCAT 0.493000 42 108 0 0 0.853193 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881780 108881780 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:108881780C>A ENST00000329106.2 + 7 888 c.888C>A c.(886-888)agC>agA p.S296R NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 296 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 TGGCAGGAAGCACCCTAACCT 0.463000 18 43 9.16793e-09 1.07174e-08 0.520397 1 0 SLC18A2 6571 broad.mit.edu 37 10 119013583 119013583 + Missense_Mutation SNP C C A rs11568719 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:119013583C>A ENST00000298472.5 + 5 691 c.548C>A c.(547-549)gCc>gAc p.A183D SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 183 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGCAGCTATGCCTTCCTGCTG 0.592000 66 103 2.02627e-32 3.17322e-32 0.870114 1 0 PRDM9 56979 broad.mit.edu 37 5 23527869 23527869 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:23527869G>T ENST00000296682.3 + 11 2854 c.2672G>T c.(2671-2673)aGg>aTg p.R891M NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 891 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TACGTCTGCAGGGAGGATGAG 0.522000 HNSCC(3;0.000094) 17 47 7.05477e-17 9.63861e-17 0.520397 1 0 RYR2 6262 broad.mit.edu 37 1 237880547 237880547 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:237880547G>C ENST00000366574.2 + 72 10690 c.10373G>C c.(10372-10374)cGg>cCg p.R3458P RYR2_ENST00000542537.1_Missense_Mutation_p.R3442P|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3458 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.R3456L(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) AAAGGAGATCGGTATTCCATG 0.493000 19 12 0 0 0.608945 0 0 FHOD3 80206 broad.mit.edu 37 18 34320650 34320650 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:34320650A>T ENST00000257209.4 + 18 3205 c.3083A>T c.(3082-3084)gAg>gTg p.E1028V FHOD3_ENST00000592128.1_Missense_Mutation_p.E7V|FHOD3_ENST00000445677.1_Missense_Mutation_p.E990V|FHOD3_ENST00000591635.1_Missense_Mutation_p.E224V|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1203V|FHOD3_ENST00000359247.4_Missense_Mutation_p.E1011V NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1011 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ACCGATGAGGAGAAGCAGAAA 0.488000 17 27 0 0 0.500413 0 0 ATP11A 23250 broad.mit.edu 37 13 113439475 113439475 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:113439475C>T ENST00000487903.1 + 2 154 c.66C>T c.(64-66)gaC>gaT p.D22D ATP11A_ENST00000375645.3_Silent_p.D22D|ATP11A_ENST00000283558.8_Silent_p.D22D|ATP11A_ENST00000375630.2_Silent_p.D22D P98196 AT11A_HUMAN ATPase, class VI, type 11A 22 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ATTGGGTGGACAGCAGGACCA 0.567000 OREG0003855 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 42 73 0 0 0.827153 0 0 STAT3 6774 broad.mit.edu 37 17 40475303 40475303 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:40475303A>G ENST00000264657.5 - 19 2035 c.1723T>C c.(1723-1725)Tac>Cac p.Y575H STAT3_ENST00000585517.1_Missense_Mutation_p.Y575H|STAT3_ENST00000404395.3_Missense_Mutation_p.Y575H|STAT3_ENST00000588969.1_Missense_Mutation_p.Y575H|STAT3_ENST00000389272.3_Missense_Mutation_p.Y477H NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 575 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GCCAGGATGTACTTTTTCACA 0.517000 Hyperimmunoglobulin E Recurrent Infection Syndrome OREG0024421 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 112 0 0 0.150653 0 0 AKAP8 10270 broad.mit.edu 37 19 15484083 15484083 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:15484083C>A ENST00000269701.2 - 5 500 c.440G>T c.(439-441)cGc>cTc p.R147L NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 147 signal transduction nuclear matrix p.R147H(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 GTAGCTGGGGCGGTAGGGGTT 0.642000 29 20 1.88708e-17 2.62139e-17 0.729181 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140870351 140870351 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140870351G>T ENST00000252087.1 + 1 1544 c.1544G>T c.(1543-1545)cGg>cTg p.R515L PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 515 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGATGGACGGATCTTTGCC 0.547000 36 99 5.71845e-15 7.5941e-15 0.812448 1 0 AKAP1 8165 broad.mit.edu 37 17 55195744 55195744 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:55195744G>A ENST00000337714.3 + 9 2736 c.2503G>A c.(2503-2505)Gat>Aat p.D835N AKAP1_ENST00000571629.1_Missense_Mutation_p.D835N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D835N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D835N NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 835 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TCCTGAAGACGATGACCAGTT 0.532000 37 39 0 0 0.840704 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92647611 92647611 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:92647611T>G ENST00000318445.6 + 4 1062 c.848T>G c.(847-849)tTt>tGt p.F283C SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.F283C NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 283 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CTCTTGATGTTTGGGTTTCCA 0.597000 36 102 0 0 0.779181 0 0 OR51A7 119687 broad.mit.edu 37 11 4929367 4929367 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:4929367C>A ENST00000359350.4 + 1 768 c.768C>A c.(766-768)acC>acA p.T256T MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCATCACCCTGGCTGCCA 0.493000 90 113 1.13762e-57 1.83345e-57 0.870114 1 0 ADAM2 2515 broad.mit.edu 37 8 39624758 39624758 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:39624758T>A ENST00000265708.4 - 13 1328 c.1225A>T c.(1225-1227)Att>Ttt p.I409F ADAM2_ENST00000521880.1_Missense_Mutation_p.I409F|ADAM2_ENST00000347580.4_Missense_Mutation_p.I390F|ADAM2_ENST00000379853.2_Missense_Mutation_p.I283F NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 409 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GTTTCTCCAATAAGGGCACAA 0.378000 65 100 0 0 0.870114 0 0 IRF9 10379 broad.mit.edu 37 14 24624848 24624848 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:24624848G>C ENST00000558468.1 + 6 865 c.865G>C c.(865-867)Gag>Cag p.E289Q RNF31_ENST00000324103.6_Missense_Mutation_p.E814Q|RNF31_ENST00000559275.1_Missense_Mutation_p.E663Q|RNF31_ENST00000382687.3_Missense_Mutation_p.E663Q TGAGCAGCTGGAGGCAACTTG 0.532000 33 78 0 0 0.760397 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 5 0.00621372 0.00646694 0.335167 1 0 INSL5 10022 broad.mit.edu 37 1 67263744 67263744 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:67263744C>A ENST00000304526.2 - 2 394 c.360G>T c.(358-360)ttG>ttT p.L120F NM_005478.4 NP_005469.2 Q9Y5Q6 INSL5_HUMAN insulin-like 5 120 extracellular region hormone activity breast(2)|endometrium(1)|lung(5) 8 CAGTGCAACACAAAGTTTGTA 0.443000 13 58 1.05317e-09 1.24432e-09 0.457914 1 0 SYNE1 23345 broad.mit.edu 37 6 152473247 152473247 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:152473247C>G ENST00000367255.5 - 134 24760 c.24159G>C c.(24157-24159)ctG>ctC p.L8053L SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.L2577L|SYNE1_ENST00000265368.4_Silent_p.L8053L|SYNE1_ENST00000354674.4_Silent_p.L208L|SYNE1_ENST00000448038.1_Silent_p.L7982L|SYNE1_ENST00000423061.1_Silent_p.L7982L|SYNE1_ENST00000341594.5_Silent_p.L7665L|SYNE1_ENST00000539504.1_Silent_p.L208L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8053 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCAGCTGCGTCAGGCACTCGT 0.542000 HNSCC(10;0.0054) 24 43 0 0 0.681144 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561641 145561641 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:145561641A>G ENST00000355594.4 + 10 1416 c.1329A>G c.(1327-1329)caA>caG p.Q443Q NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 443 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGGACAGCAACTGACTACCA 0.557000 18 95 0 0 0.539581 0 0 TTN 7273 broad.mit.edu 37 2 179396045 179396045 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:179396045A>T ENST00000589042.1 - 358 105521 c.105297T>A c.(105295-105297)tcT>tcA p.S35099S TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Silent_p.S26159S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Silent_p.S32531S|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Silent_p.S26226S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.S33458S|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Silent_p.S26034S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33458 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) CTGCAGATGCAGAGTGTTCAT 0.408000 61 70 0 0 0.870114 0 0 TRPM3 80036 broad.mit.edu 37 9 73151003 73151003 + Missense_Mutation SNP G G A rs41287375 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:73151003G>A ENST00000377110.2 - 25 5233 c.4990C>T c.(4990-4992)Cgg>Tgg p.R1664W TRPM3_ENST00000423814.3_Missense_Mutation_p.R1691W|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1536W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1523W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1523W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1536W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1513W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1526W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1523W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1668W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1526W NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1689 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GCTGTGTTCCGCTGCCTGTCG 0.577000 133 74 0 0 0.870114 0 0 ZNF835 90485 broad.mit.edu 37 19 57176448 57176448 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:57176448A>T ENST00000537055.2 - 2 350 c.119T>A c.(118-120)gTg>gAg p.V40E NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CTTGCAGGCCACGGCCTCTGG 0.597000 22 14 0 0 0.624587 0 0 UPP1 7378 broad.mit.edu 37 7 48141551 48141551 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:48141551A>G ENST00000331803.4 + 6 916 c.293A>G c.(292-294)tAt>tGt p.Y98C UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.Y98C|UPP1_ENST00000341253.4_Missense_Mutation_p.Y98C|UPP1_ENST00000482015.1_Intron Q16831 UPP1_HUMAN uridine phosphorylase 1 98 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 TATGCCATGTATAAAGTAGGA 0.562000 39 44 0 0 0.853193 0 0 SYT8 90019 broad.mit.edu 37 11 1858580 1858580 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:1858580C>T ENST00000341958.3 + 8 1385 c.1083C>T c.(1081-1083)ccC>ccT p.P361P SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Silent_p.P375P Q8NBV8 SYT8_HUMAN synaptotagmin VIII 375 acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCGGCACCCCCTGCGGCCAG 0.726000 4 11 0 0 0.150653 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 8 0 0 0.150653 0 0 WNT7A 7476 broad.mit.edu 37 3 13860915 13860915 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:13860915C>T ENST00000285018.4 - 4 880 c.576G>A c.(574-576)ctG>ctA p.L192L NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 192 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TGTTCTCCTCCAGGATCTGCA 0.657000 19 56 0 0 0.575678 0 0 ATR 545 broad.mit.edu 37 3 142272808 142272808 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:142272808T>A ENST00000350721.4 - 11 2512 c.2391A>T c.(2389-2391)gaA>gaT p.E797D ATR_ENST00000383101.3_Missense_Mutation_p.E733D NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 797 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTGTTTCATCTTCTCTAAAAT 0.308000 Other conserved DNA damage response genes 9 27 0 0 0.307466 0 0 SNORD114-1 767577 broad.mit.edu 37 14 101416185 101416185 + RNA SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:101416185G>A ENST00000362705.1 + 0 16 NR_003193.1 CTATGATGATGACTGGTGGCG 0.353000 15 30 0 0 0.457914 0 0 PRSS1 5644 broad.mit.edu 37 7 142458515 142458515 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:142458515C>T ENST00000486171.1 + 2 167 c.150C>T c.(148-150)ggC>ggT p.G50G PRSS1_ENST00000311737.7_Silent_p.G50G P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 50 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCTGTGGTGGCTCCCTCATCA 0.562000 7 147 0 0 0.248553 0 0 SLC9A1 6548 broad.mit.edu 37 1 27480730 27480730 + Silent SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:27480730G>C ENST00000263980.3 - 1 671 c.96C>G c.(94-96)ctC>ctG p.L32L SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Silent_p.L32L NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 32 regulation of pH integral to membrane sodium:hydrogen antiporter activity 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) CATGGCTCCTGAGAACAGGCA 0.607000 17 73 0 0 0.520397 0 0 ZNF16 7564 broad.mit.edu 37 8 146156251 146156251 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:146156251C>T ENST00000276816.4 - 4 2108 c.1922G>A c.(1921-1923)cGt>cAt p.R641H ZNF16_ENST00000394909.2_Missense_Mutation_p.R641H NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GAGGACCGAACGCTGACTGAA 0.537000 49 69 0 0 0.870114 0 0 PAX3 5077 broad.mit.edu 37 2 223160317 223160317 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:223160317G>T ENST00000350526.4 - 3 517 c.381C>A c.(379-381)ggC>ggA p.G127G PAX3_ENST00000409551.3_Silent_p.G126G|PAX3_ENST00000258387.5_Silent_p.G127G|PAX3_ENST00000336840.6_Silent_p.G127G|PAX3_ENST00000409828.3_Silent_p.G127G|PAX3_ENST00000344493.4_Silent_p.G127G|PAX3_ENST00000392070.2_Silent_p.G127G|PAX3_ENST00000392069.2_Silent_p.G127G NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 127 Paired. apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGAACATGCCCGGGTTCT 0.542000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 17 58 3.32936e-07 3.77252e-07 0.539581 1 0 RBL2 5934 broad.mit.edu 37 16 53515618 53515618 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:53515618A>T ENST00000262133.6 + 21 3257 c.3120A>T c.(3118-3120)gtA>gtT p.V1040V RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1040 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 ATCCATTTGTAAGAACAGGCT 0.333000 12 21 0 0 0.411799 0 0 ESPNP 284729 broad.mit.edu 37 1 17033809 17033809 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:17033809G>T ENST00000492551.1 - 0 669 NR_026567.1 CGCAGGCAGTGGGTGCAGTGG 0.662000 4 33 0.000602214 0.000644952 0.184627 1 0 STON2 85439 broad.mit.edu 37 14 81743750 81743750 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:81743750G>T ENST00000555447.1 - 6 2317 c.1905C>A c.(1903-1905)acC>acA p.T635T STON2_ENST00000267540.2_Silent_p.T635T NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 635 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACTTTGTGGTGGTGGTGGGCA 0.517000 19 19 3.32936e-07 3.77252e-07 0.539581 1 0 HPSE2 60495 broad.mit.edu 37 10 100374727 100374727 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:100374727C>G ENST00000370552.3 - 9 1313 c.1254G>C c.(1252-1254)gtG>gtC p.V418V HPSE2_ENST00000404542.1_Silent_p.V306V|HPSE2_ENST00000370549.1_Silent_p.V360V|HPSE2_ENST00000370546.1_Silent_p.V418V NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 418 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) AGTGCCGTATCACGACATCAA 0.388000 53 113 0 0 0.870114 0 0 TPTE 7179 broad.mit.edu 37 21 10942750 10942750 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:10942750T>A ENST00000298232.7 - 12 1004 c.637A>T c.(637-639)Aca>Tca p.T213S TPTE_ENST00000342420.5_Missense_Mutation_p.T193S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.T231S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 231 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) CCATCCCTTGTGTATCGCCTT 0.313000 76 437 0 0 0.870114 0 0 KRT6A 3853 broad.mit.edu 37 12 52885323 52885323 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:52885323C>T ENST00000330722.6 - 2 806 c.738G>A c.(736-738)gtG>gtA p.V246V NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 246 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TGAAGTCCTCCACCAGGTCCT 0.542000 42 43 0 0 0.834066 0 0 NAF1 92345 broad.mit.edu 37 4 164087830 164087830 + Missense_Mutation SNP T T A rs113104155 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:164087830T>A ENST00000274054.2 - 1 243 c.50A>T c.(49-51)aAt>aTt p.N17I NAF1_ENST00000422287.2_Missense_Mutation_p.N17I NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 17 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) GTCGGTGCCATTGAATTTCAG 0.657000 17 19 0 0 0.520397 0 0 CSMD1 64478 broad.mit.edu 37 8 3263580 3263580 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:3263580C>A ENST00000602557.1 - 16 2793 c.2238G>T c.(2236-2238)gtG>gtT p.V746V CSMD1_ENST00000539096.1_Silent_p.V745V|CSMD1_ENST00000542608.1_Silent_p.V745V|CSMD1_ENST00000602723.1_Silent_p.V746V|CSMD1_ENST00000400186.3_Silent_p.V746V|CSMD1_ENST00000520002.1_Silent_p.V746V|CSMD1_ENST00000537824.1_Silent_p.V745V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 746 Sushi 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCTCCAGACCACGTTCCCGT 0.547000 13 28 6.53275e-17 8.96229e-17 0.457914 1 0 HMCN1 83872 broad.mit.edu 37 1 185932971 185932971 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:185932971G>T ENST00000271588.4 + 13 2271 c.2042G>T c.(2041-2043)tGc>tTc p.C681F HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.C681F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 681 Ig-like C2-type 3. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATCTATGGTTGCCTAGCAAGT 0.328000 57 86 1.45723e-30 2.22949e-30 0.870114 1 0 RBM46 166863 broad.mit.edu 37 4 155720682 155720682 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:155720682G>A ENST00000510397.1 + 4 1547 c.1368G>A c.(1366-1368)aaG>aaA p.K456K RBM46_ENST00000514866.1_Silent_p.K456K|RBM46_ENST00000281722.3_Silent_p.K456K NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 456 nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) AAGATGCAAAGGAACTGGCAG 0.323000 3 18 0 0 0.150653 0 0 RYR2 6262 broad.mit.edu 37 1 237880546 237880546 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:237880546C>T ENST00000366574.2 + 72 10689 c.10372C>T c.(10372-10374)Cgg>Tgg p.R3458W RYR2_ENST00000542537.1_Missense_Mutation_p.R3442W|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456W NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3458 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 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) CAAAGGAGATCGGTATTCCAT 0.493000 19 12 0 0 0.608945 0 0 TONSL 4796 broad.mit.edu 37 8 145661513 145661513 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:145661513C>T ENST00000409379.3 - 17 2332 c.2303G>A c.(2302-2304)cGg>cAg p.R768Q AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 768 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GGCTGCCACCCGTTGTGCTGT 0.711000 4 9 0 0 0.217242 0 0 KLHL1 57626 broad.mit.edu 37 13 70535565 70535565 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:70535565C>T ENST00000377844.4 - 3 1451 c.692G>A c.(691-693)aGt>aAt p.S231N KLHL1_ENST00000545028.1_Missense_Mutation_p.S38N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 231 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGAGACTGAACTCAGAACAAG 0.438000 31 41 0 0 0.769981 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72434578 72434578 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:72434578C>T ENST00000373208.1 + 2 349 c.349C>T c.(349-351)Ctg>Ttg p.L117L ADAMTS14_ENST00000373207.1_Silent_p.L117L NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 117 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CGGGAAGGAACTGCACTTGCG 0.637000 18 23 0 0 0.539581 0 0 MGA 23269 broad.mit.edu 37 15 42058514 42058514 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:42058514A>T ENST00000219905.7 + 24 8415 c.8234A>T c.(8233-8235)aAa>aTa p.K2745I MGA_ENST00000389936.4_Missense_Mutation_p.K2706I|MGA_ENST00000570161.1_Missense_Mutation_p.K2745I|MGA_ENST00000566586.1_Missense_Mutation_p.K2536I|MGA_ENST00000545763.1_Missense_Mutation_p.K2536I NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2706 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTCTTACCTAAAAAGATTTCT 0.378000 13 10 0 0 0.457914 0 0 FUT11 170384 broad.mit.edu 37 10 75532234 75532234 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:75532234G>T ENST00000372841.3 + 1 186 c.143G>T c.(142-144)cGg>cTg p.R48L AC022400.2_ENST00000595757.1_Silent_p.R49R|FUT11_ENST00000394790.1_Missense_Mutation_p.R48L NM_173540.2 NP_775811.2 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 48 protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 Prostate(51;0.0112) GCGGTTTTCCGGCCGCCCTCG 0.741000 3 21 0.115264 0.117385 0.115264 1 0 PTCHD4 442213 broad.mit.edu 37 6 47846599 47846599 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:47846599C>G ENST00000339488.4 - 3 2014 c.1981G>C c.(1981-1983)Gtt>Ctt p.V661L NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 661 integral to membrane hedgehog receptor activity GCAATCAGAACAGGCACTGTG 0.483000 45 79 0 0 0.859065 0 0 CHRNA3 1136 broad.mit.edu 37 15 78909405 78909405 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:78909405G>A ENST00000326828.5 - 4 722 c.338C>T c.(337-339)gCa>gTa p.A113V CHRNA3_ENST00000348639.3_Missense_Mutation_p.A113V NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 113 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GATCTTCTGTGCAGGGACACG 0.562000 13 11 0 0 0.479597 0 0 CASP3 836 broad.mit.edu 37 4 185553059 185553059 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:185553059C>A ENST00000308394.4 - 6 605 c.343G>T c.(343-345)Gtt>Ttt p.V115F CASP3_ENST00000393588.4_Missense_Mutation_p.V115F|CASP3_ENST00000517513.1_Missense_Mutation_p.V115F|CASP3_ENST00000523916.1_Missense_Mutation_p.V115F|CASP3_ENST00000393585.2_Missense_Mutation_p.V115F NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 115 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) AGCACACAAACAAAACTGCTC 0.338000 38 73 6.48837e-15 8.58222e-15 0.853193 1 0 PRKACG 5568 broad.mit.edu 37 9 71628335 71628335 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:71628335A>G ENST00000377276.2 - 1 704 c.674T>C c.(673-675)cTa>cCa p.L225P NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 225 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GAGCACCCCTAGGGCCCACCA 0.612000 25 23 0 0 0.654019 0 0 FBLN1 2192 broad.mit.edu 37 22 45960816 45960816 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:45960816G>A ENST00000348697.2 + 15 1897 c.1750G>A c.(1750-1752)Gac>Aac p.D584N FBLN1_ENST00000442170.2_Missense_Mutation_p.D584N|FBLN1_ENST00000327858.6_Intron P23142 FBLN1_HUMAN fibulin 1 580 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AAGTAAAGAGGACTGCAGGGT 0.537000 16 22 0 0 0.500413 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156917973 156917973 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:156917973C>A ENST00000368194.3 - 24 3192 c.2153_splice c.e24+1 p.R718_splice ARHGEF11_ENST00000315174.8_Splice_Site_p.R94_splice|ARHGEF11_ENST00000361409.2_Splice_Site_p.R678_splice NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 678 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATCACTTACCTGCGGCCCAT 0.587000 13 33 4.36969e-10 5.25629e-10 0.435327 1 0 BPI 671 broad.mit.edu 37 20 36935979 36935979 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:36935979G>A ENST00000262865.4 + 2 242 c.153G>A c.(151-153)caG>caA p.Q51Q CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 51 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 kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) CCAGCCAGCAGGGGACGGCCG 0.592000 36 82 0 0 0.804634 0 0 SLC5A3 6526 broad.mit.edu 37 21 35469090 35469090 + Silent SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:35469090T>A ENST00000381151.3 + 2 2105 c.1593T>A c.(1591-1593)ctT>ctA p.L531L MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 531 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TTGTGAGCCTTCTCACACCAC 0.468000 26 32 0 0 0.693898 0 0 OBSL1 23363 broad.mit.edu 37 2 220432677 220432677 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:220432677G>A ENST00000404537.1 - 3 1353 c.1297C>T c.(1297-1299)Cgc>Tgc p.R433C OBSL1_ENST00000289656.3_Missense_Mutation_p.R20C|OBSL1_ENST00000265318.4_Missense_Mutation_p.R433C|OBSL1_ENST00000603926.1_Missense_Mutation_p.R433C|OBSL1_ENST00000373873.4_Missense_Mutation_p.R433C|OBSL1_ENST00000373876.1_Missense_Mutation_p.R433C NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 433 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGGGGCAGGCGCTTCAGGATG 0.637000 10 35 0 0 0.335167 0 0 DDX25 29118 broad.mit.edu 37 11 125778353 125778353 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:125778353G>A ENST00000263576.6 + 6 617 c.462G>A c.(460-462)gtG>gtA p.V154V RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 154 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) CGGCATTTGTGTTGGCAATGT 0.463000 68 95 0 0 0.870114 0 0 DDX42 11325 broad.mit.edu 37 17 61895427 61895427 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:61895427G>A ENST00000578681.1 + 19 3087 c.2486G>A c.(2485-2487)aGc>aAc p.S829N DDX42_ENST00000582985.1_Intron|DDX42_ENST00000457800.2_Missense_Mutation_p.S829N|DDX42_ENST00000389924.2_Missense_Mutation_p.S829N|DDX42_ENST00000359353.5_Missense_Mutation_p.S710N|DDX42_ENST00000583590.1_Missense_Mutation_p.S829N NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 829 Gly-rich.|His-rich.|Necessary for interaction with TP53BP2. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.S829I(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 AATCGGCATAGCGATAGTCCA 0.587000 20 52 0 0 0.592651 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 42 0 0 0.115264 0 0 TFDP1 7027 broad.mit.edu 37 13 114288852 114288852 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:114288852G>T ENST00000375370.5 + 8 834 c.622G>T c.(622-624)Gaa>Taa p.E208* TFDP1_ENST00000538138.1_Nonsense_Mutation_p.E113*|TFDP1_ENST00000544902.1_Nonsense_Mutation_p.E113* NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 208 Dimerization (Potential). cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.E208*(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) TTTGAAGGTGGAAAGACAGAG 0.398000 TSP Lung(29;0.18) 30 56 3.99451e-17 5.50281e-17 0.740014 1 0 OR5AC2 81050 broad.mit.edu 37 3 97806880 97806880 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:97806880C>G ENST00000358642.2 + 1 864 c.864C>G c.(862-864)aaC>aaG p.N288K NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CCCTGCTAAACCCATTTATTT 0.358000 13 35 0 0 0.435327 0 0 MUC5B 727897 broad.mit.edu 37 11 1267214 1267214 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:1267214C>T ENST00000447027.1 + 31 9171 c.9113C>T c.(9112-9114)aCc>aTc p.T3038I MUC5B_ENST00000529681.1_Missense_Mutation_p.T3035I|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3035 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCACAGCCACCAGTTCCAAA 0.612000 63 110 0 0 0.870114 0 0 SDK1 221935 broad.mit.edu 37 7 3991439 3991439 + Missense_Mutation SNP G G A rs138596298 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:3991439G>A ENST00000404826.2 + 7 1176 c.1037G>A c.(1036-1038)cGc>cAc p.R346H SDK1_ENST00000389531.3_Missense_Mutation_p.R346H NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 346 Ig-like C2-type 3. R -> H (in Ref. 1; AAP75619 and 2; BAB71066). cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTTGGAAGACGCCTCACCATC 0.617000 9 81 0 0 0.307466 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453805 84453805 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:84453805C>A ENST00000377084.2 - 1 2723 c.1838G>T c.(1837-1839)aGc>aTc p.S613I NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 613 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GGACACCCTGCTGGTGTCTAG 0.582000 14 29 1.49906e-05 1.65345e-05 0.457914 1 0 TFAP2C 7022 broad.mit.edu 37 20 55206867 55206867 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:55206867G>T ENST00000201031.2 + 3 784 c.541G>T c.(541-543)Gac>Tac p.D181Y TFAP2C_ENST00000544508.1_Missense_Mutation_p.D12Y NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 181 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) CCAGAATGTCGACGACCAGCA 0.557000 27 47 4.59853e-10 5.51159e-10 0.693898 1 0 TBC1D21 161514 broad.mit.edu 37 15 74178467 74178467 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:74178467C>A ENST00000300504.2 + 7 711 c.628C>A c.(628-630)Ctc>Atc p.L210I TBC1D21_ENST00000562056.1_Missense_Mutation_p.L173I|TBC1D21_ENST00000535547.2_Missense_Mutation_p.L174I NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 210 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 CCTAGACATGCTCAGCACCCT 0.592000 26 36 9.39395e-14 1.21354e-13 0.706142 1 0 PPP2R5B 5526 broad.mit.edu 37 11 64694309 64694309 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:64694309G>A ENST00000164133.2 + 3 947 c.325G>A c.(325-327)Gag>Aag p.E109K NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 109 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 AGCCCTCAACGAGCTGGTGGA 0.642000 14 67 0 0 0.479597 0 0 LMBRD2 92255 broad.mit.edu 37 5 36122394 36122394 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:36122394T>A ENST00000296603.4 - 9 1570 c.1108A>T c.(1108-1110)Aat>Tat p.N370Y NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 370 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATGTAGGATTATAAAAATAT 0.294000 17 27 0 0 0.557998 0 0 NHLRC2 374354 broad.mit.edu 37 10 115636548 115636548 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:115636548C>T ENST00000369301.3 + 3 812 c.600C>T c.(598-600)gaC>gaT p.D200D NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 200 Thioredoxin. cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) ATTACAAAGACAGGGGGCAGA 0.343000 23 39 0 0 0.624587 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904874 144904874 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chrX:144904874C>A ENST00000370490.1 + 1 5186 c.931C>A c.(931-933)Cca>Aca p.P311T SLITRK2_ENST00000447897.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P311T Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 311 integral to membrane p.P311A(1) 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) GAGAAATCGTCCAACTCCTCG 0.552000 35 16 1.414e-09 1.66471e-09 0.788014 1 0 IL7R 3575 broad.mit.edu 37 5 35876359 35876359 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:35876359C>A ENST00000303115.3 + 8 1280 c.1151C>A c.(1150-1152)tCt>tAt p.S384Y IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 384 S -> P (in Ref. 7; AAH67537). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.S384F(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATTCTCTCCTCTTCCAGGTCC 0.542000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 31 38 1.56442e-22 2.27801e-22 0.760397 1 0 SEZ6L 23544 broad.mit.edu 37 22 26747058 26747058 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:26747058C>A ENST00000529632.2 + 12 2644 c.2448C>A c.(2446-2448)acC>acA p.T816T SEZ6L_ENST00000403121.1_Silent_p.T589T|SEZ6L_ENST00000402979.1_Silent_p.T589T|SEZ6L_ENST00000343706.4_Silent_p.T816T|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Silent_p.T13T|SEZ6L_ENST00000248933.6_Silent_p.T816T|SEZ6L_ENST00000404234.3_Silent_p.T816T NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 816 Sushi 4. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ATCACTCGACCCGCTTAATTT 0.542000 28 48 7.26314e-15 9.5689e-15 0.717897 1 0 RASIP1 54922 broad.mit.edu 37 19 49224080 49224080 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:49224080C>T ENST00000222145.4 - 12 3071 c.2867G>A c.(2866-2868)gGg>gAg p.G956E NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 956 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CACGGGAGGCCCATGGCGATA 0.612000 95 44 0 0 0.870114 0 0 TRPV5 56302 broad.mit.edu 37 7 142626165 142626165 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:142626165G>C ENST00000265310.1 - 5 886 c.538C>G c.(538-540)Cgg>Ggg p.R180G TRPV5_ENST00000442623.1_Missense_Mutation_p.R180G NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 180 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ATGAGCAGCCGCACGATCTCC 0.612000 17 14 0 0 0.557998 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929036 32929036 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:32929036A>G ENST00000361627.3 + 12 2784 c.2062A>G c.(2062-2064)Ata>Gta p.I688V ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I499V|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I499V NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 688 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.I688V(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) AGAAACAACTATAAAATGTTA 0.323000 12 28 0 0 0.387290 0 0 PTPRD 5789 broad.mit.edu 37 9 8484231 8484231 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:8484231C>A ENST00000381196.4 - 27 3844 c.3301G>T c.(3301-3303)Gca>Tca p.A1101S PTPRD_ENST00000540109.1_Missense_Mutation_p.A1101S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A680S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1079S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1088S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A690S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A687S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A680S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A690S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A687S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1101S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1101 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCAGTCTTTGCCGTGACCCTG 0.473000 TSP Lung(15;0.13) 43 38 6.5261e-18 9.18079e-18 0.840704 1 0 MARS2 92935 broad.mit.edu 37 2 198570930 198570930 + Silent SNP G G T rs144114997 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:198570930G>T ENST00000282276.6 + 1 844 c.801G>T c.(799-801)ccG>ccT p.P267P AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 267 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) GGGGCATTCCGGTGCCCGGGG 0.547000 31 52 2.61193e-14 3.42752e-14 0.740014 1 0 RQCD1 9125 broad.mit.edu 37 2 219452361 219452361 + Silent SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:219452361A>C ENST00000273064.6 + 5 858 c.483A>C c.(481-483)acA>acC p.T161T RQCD1_ENST00000542068.1_Silent_p.T161T|RQCD1_ENST00000509807.2_Silent_p.T193T|RQCD1_ENST00000295701.5_Silent_p.T161T NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 161 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TATTAACAACAGAAATTATCC 0.303000 9 17 0 0 0.335167 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683151 50683151 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:50683151C>T ENST00000008391.3 + 2 590 c.362C>T c.(361-363)gCg>gTg p.A121V NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 121 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AATGCGCGGGCGCTCAAGTCG 0.607000 59 86 0 0 0.870114 0 0 ELN 2006 broad.mit.edu 37 7 73467602 73467602 + Silent SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:73467602T>A ENST00000252034.7 + 18 1458 c.1059T>A c.(1057-1059)gtT>gtA p.V353V ELN_ENST00000414324.1_Silent_p.V348V|ELN_ENST00000380553.4_Silent_p.V236V|ELN_ENST00000380562.4_Silent_p.V353V|ELN_ENST00000358929.4_Silent_p.V353V|ELN_ENST00000458204.1_Silent_p.V343V|ELN_ENST00000320399.6_Silent_p.V353V|ELN_ENST00000445912.1_Silent_p.V353V|ELN_ENST00000357036.5_Silent_p.V358V|ELN_ENST00000380575.4_Silent_p.V343V|ELN_ENST00000380584.4_Silent_p.V339V|ELN_ENST00000429192.1_Silent_p.V358V|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000320492.7_Silent_p.V317V|ELN_ENST00000380576.5_Silent_p.V353V NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 353 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGATTCCAGTTGTCCCAGGTG 0.587000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 43 24 0 0 0.840704 0 0 KREMEN2 79412 broad.mit.edu 37 16 3014592 3014592 + Nonsense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:3014592C>A ENST00000572045.1 + 1 376 c.71C>A c.(70-72)tCg>tAg p.S24* KREMEN2_ENST00000303746.5_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000571007.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000319500.6_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000575885.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000575769.1_Nonsense_Mutation_p.S24* NM_172229.2 NP_757384.1 Q8NCW0 KREM2_HUMAN kringle containing transmembrane protein 2 24 Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 CGTGGGGCCTCGGCTGGGAGC 0.687000 9 34 0.00621372 0.00646694 0.335167 1 0 LDB3 11155 broad.mit.edu 37 10 88441336 88441336 + Silent SNP C C T rs45516997 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:88441336C>T ENST00000429277.2 + 5 610 c.465C>T c.(463-465)ctC>ctT p.L155L LDB3_ENST00000458213.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_Silent_p.L155L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000361373.4_Silent_p.L155L|LDB3_ENST00000310944.6_Silent_p.L155L|LDB3_ENST00000372056.4_Silent_p.L155L NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 155 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TCTCCTCACTCGCCGAGGCCT 0.736000 3 42 0 0 0.115264 0 0 DNAH9 1770 broad.mit.edu 37 17 11865532 11865532 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:11865532A>G ENST00000262442.3 + 68 13260 c.13192A>G c.(13192-13194)Atc>Gtc p.I4398V RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Missense_Mutation_p.I710V|DNAH9_ENST00000454412.2_Missense_Mutation_p.I4322V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4398 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) AGGGGCCTACATCCATGGCCT 0.517000 33 29 0 0 0.769981 0 0 BMPER 168667 broad.mit.edu 37 7 34085918 34085918 + Splice_Site SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:34085918G>T ENST00000297161.2 + 8 951 c.576_splice c.e8-1 p.G193_splice BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Splice_Site_p.G193_splice NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 193 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CTTTTCTTAGGGAGGCAGGAC 0.438000 34 116 1.22384e-17 1.7072e-17 0.769981 1 0 KCTD16 57528 broad.mit.edu 37 5 143587020 143587020 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:143587020T>G ENST00000507359.2 + 2 1834 c.743T>G c.(742-744)gTg>gGg p.V248G KCTD16_ENST00000512467.1_Missense_Mutation_p.V248G NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 248 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TTCCACATGGTGGCCTGTAAC 0.428000 71 77 0 0 0.870114 0 0 FBN2 2201 broad.mit.edu 37 5 127782228 127782228 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:127782228C>G ENST00000508053.1 - 13 1872 c.898G>C c.(898-900)Gaa>Caa p.E300Q FBN2_ENST00000262464.4_Missense_Mutation_p.E300Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E267Q P35556 FBN2_HUMAN fibrillin 2 300 EGF-like 4; 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) CATCTGCATTCAAAAGAGCCC 0.428000 38 67 0 0 0.812448 0 0 GPR112 139378 broad.mit.edu 37 X 135431752 135431752 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chrX:135431752G>T ENST00000394143.1 + 6 6178 c.5887G>T c.(5887-5889)Gct>Tct p.A1963S GPR112_ENST00000287534.4_Missense_Mutation_p.A1900S|GPR112_ENST00000370652.1_Missense_Mutation_p.A1963S|GPR112_ENST00000412101.1_Missense_Mutation_p.A1758S|GPR112_ENST00000394141.1_Missense_Mutation_p.A1758S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1963 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCTTTAAGAGCTATCACTTC 0.418000 33 15 2.08457e-15 2.79063e-15 0.750413 1 0 SUCO 51430 broad.mit.edu 37 1 172579150 172579150 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:172579150G>C ENST00000367723.3 + 23 4096 c.3972G>C c.(3970-3972)caG>caC p.Q1324H SUCO_ENST00000263688.3_Missense_Mutation_p.Q1172H NM_016227.2 NP_057311.2 SUN domain containing ossification factor CTTCATCACAGTCAGAAGAGT 0.403000 21 139 0 0 0.624587 0 0 DUSP27 92235 broad.mit.edu 37 1 167097826 167097826 + Missense_Mutation SNP A A C rs111745868 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:167097826A>C ENST00000361200.2 + 6 3624 c.3458A>C c.(3457-3459)cAg>cCg p.Q1153P DUSP27_ENST00000271385.5_Missense_Mutation_p.Q1153P|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q1153P|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1153 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 ACCAAGCTGCAGAAAAGGAGG 0.527000 13 27 0 0 0.479597 0 0 SLC12A5 57468 broad.mit.edu 37 20 44682333 44682333 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:44682333C>A ENST00000454036.1 + 20 2809 c.2733C>A c.(2731-2733)gtC>gtA p.V911V SLC12A5_ENST00000243964.3_Silent_p.V888V NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 911 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGCGGAGGTCGAGGTGGTGG 0.542000 51 100 1.0442e-30 1.61244e-30 0.870114 1 0 KEAP1 9817 broad.mit.edu 37 19 10602746 10602746 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:10602746G>A ENST00000171111.5 - 3 1379 c.832C>T c.(832-834)Ccg>Tcg p.P278S KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.P278S NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 278 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AGGAAGTTCGGCGTCAACGAG 0.612000 35 20 0 0 0.788014 0 0 SNRPD3 6634 broad.mit.edu 37 22 24964111 24964111 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:24964111G>C ENST00000215829.3 + 3 873 c.286G>C c.(286-288)Ggc>Cgc p.G96R SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96R NM_001278656.1|NM_004175.3 NP_001265585.1|NP_004166.1 P62318 SMD3_HUMAN small nuclear ribonucleoprotein D3 polypeptide 18kDa 96 Arg/Lys-rich (basic). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding p.G96C(1)|p.G96S(1) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 CTCAGGGGCTGGCCGAGGAAA 0.458000 26 38 0 0 0.693898 0 0 SPRY2 10253 broad.mit.edu 37 13 80911269 80911269 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:80911269T>A ENST00000377102.1 - 2 1549 c.572A>T c.(571-573)tAc>tTc p.Y191F SPRY2_ENST00000377104.3_Missense_Mutation_p.Y191F|SPRY2_ENST00000540649.1_Missense_Mutation_p.Y191F O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 191 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) AGGCCTTGGGTAGGTGCACTC 0.537000 32 48 0 0 0.729181 0 0 SGOL2 151246 broad.mit.edu 37 2 201436615 201436615 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:201436615G>C ENST00000357799.4 + 7 1644 c.1546G>C c.(1546-1548)Gag>Cag p.E516Q NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 516 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ATTTCACCAGGAGAGTAAATT 0.313000 49 51 0 0 0.870114 0 0 PRC1 9055 broad.mit.edu 37 15 91512795 91512795 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:91512795G>A ENST00000361188.5 - 13 2842 c.1631C>T c.(1630-1632)gCc>gTc p.A544V PRC1_ENST00000442656.2_Missense_Mutation_p.A503V|PRC1_ENST00000394249.3_Missense_Mutation_p.A544V|PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.A544V O43663 PRC1_HUMAN protein regulator of cytokinesis 1 544 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) CTCCTTGTTGGCTCCATGCCT 0.552000 28 83 0 0 0.729181 0 0 MCM4 4173 broad.mit.edu 37 8 48883348 48883348 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:48883348G>T ENST00000262105.2 + 11 1921 c.1712G>T c.(1711-1713)tGc>tTc p.C571F MCM4_ENST00000523944.1_Missense_Mutation_p.C571F NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 571 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) AACGGCATCTGCTGTATCGAT 0.498000 18 34 1.67942e-08 1.94953e-08 0.539581 1 0 BRINP3 339479 broad.mit.edu 37 1 190067402 190067402 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:190067402G>T ENST00000367462.3 - 8 2278 c.2047C>A c.(2047-2049)Ctg>Atg p.L683M FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L581M NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 683 extracellular region p.L683M(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGCAAAATCAGGTCCCGAATT 0.463000 58 84 1.93748e-29 2.93718e-29 0.870114 1 0 TSLP 85480 broad.mit.edu 37 5 110407631 110407631 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:110407631A>T ENST00000420978.2 + 2 1465 c.43A>T c.(43-45)Agg>Tgg p.R15W TSLP_ENST00000344895.3_Missense_Mutation_p.R15W Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 15 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) AGTTTCTTTCAGGAAAATCTT 0.408000 51 67 0 0 0.870114 0 0 TBX2 6909 broad.mit.edu 37 17 59483009 59483009 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:59483009C>A ENST00000240328.3 + 6 1779 c.1498C>A c.(1498-1500)Cct>Act p.P500T RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 500 Gly-rich. cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 CACCATGGGCCCTGGCGCCTT 0.716000 4 3 0.184627 0.186311 0.184627 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720243 140720243 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140720243A>T ENST00000394576.2 + 1 1705 c.1705A>T c.(1705-1707)Aca>Tca p.T569S PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 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) TGCCTTCCCCACAGACGGTTC 0.637000 100 153 0 0 0.870114 0 0 PMS2 5395 broad.mit.edu 37 7 6029588 6029588 + Splice_Site SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:6029588T>C ENST00000265849.7 - 10 1094 c.e10-2 PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000382321.4_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CAACGCATTCTAAGGCAAAAA 0.313000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 18 17 0 0 0.520397 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331207 100331207 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:100331207G>T ENST00000341853.1 - 0 2984 NR_003260.1 TGGGCTTGGAGCATTAAGGCC 0.562000 43 117 1.19451e-25 1.77044e-25 0.870114 1 0 OR5M3 219482 broad.mit.edu 37 11 56237637 56237637 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:56237637G>C ENST00000312240.2 - 1 377 c.337C>G c.(337-339)Ctt>Gtt p.L113V NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) ATCGCAGCAAGAATAAAAATT 0.373000 43 90 0 0 0.847076 0 0 COL6A6 131873 broad.mit.edu 37 3 130284398 130284398 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:130284398C>A ENST00000358511.6 + 3 1253 c.1222C>A c.(1222-1224)Cgg>Agg p.R408R COL6A6_ENST00000453409.2_Silent_p.R408R NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 408 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen p.R408W(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GAAGAAGCTGCGGAACCAAAT 0.463000 8 13 5.18039e-06 5.75214e-06 0.278610 1 0 CCDC39 339829 broad.mit.edu 37 3 180372601 180372601 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:180372601A>T ENST00000273654.4 - 13 1750 c.1131T>A c.(1129-1131)tgT>tgA p.C377* CCDC39_ENST00000442201.2_Nonsense_Mutation_p.C293* Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 293 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATGCCGTTCTACATTTTAAAA 0.358000 13 20 0 0 0.457914 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174248 150174248 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:150174248G>T ENST00000307271.3 + 5 1952 c.1378G>T c.(1378-1380)Ggg>Tgg p.G460W NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 460 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding p.G460W(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CTCTATCCTGGGGAGCCTCGT 0.592000 20 48 6.44725e-10 7.6996e-10 0.624587 1 0 LOC645166 645166 broad.mit.edu 37 1 148932838 148932838 + RNA SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:148932838G>A ENST00000539543.1 + 0 94 NR_027355.1 GAGCTGCCCAGCATGGCTGCA 0.607000 47 205 0 0 0.870114 0 0 SALL1 6299 broad.mit.edu 37 16 51173592 51173592 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:51173592G>A ENST00000440970.1 - 2 2681 c.2250C>T c.(2248-2250)tcC>tcT p.S750S SALL1_ENST00000251020.4_Silent_p.S847S|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 847 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGCTGTCTTGGGAGGCGTCTG 0.488000 66 64 0 0 0.870114 0 0 LAMA3 3909 broad.mit.edu 37 18 21461922 21461922 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:21461922G>T ENST00000313654.9 + 40 5376 c.5135G>T c.(5134-5136)gGa>gTa p.G1712V LAMA3_ENST00000587184.1_Missense_Mutation_p.G103V|LAMA3_ENST00000399516.3_Missense_Mutation_p.G1712V|LAMA3_ENST00000269217.6_Missense_Mutation_p.G103V NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1712 Domain III A.|Laminin EGF-like 13. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACACCGCGGGAGAGCACTGT 0.547000 10 20 1.08611e-07 1.24341e-07 0.387290 1 0 TRPM6 140803 broad.mit.edu 37 9 77436629 77436629 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:77436629C>A ENST00000451710.3 - 8 1203 c.966G>T c.(964-966)gcG>gcT p.A322A TRPM6_ENST00000360774.1_Silent_p.A322A|TRPM6_ENST00000376871.3_Silent_p.A322A|TRPM6_ENST00000361255.3_Silent_p.A317A|TRPM6_ENST00000449912.2_Silent_p.A317A|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Silent_p.A322A|TRPM6_ENST00000376872.3_Silent_p.A322A Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 322 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGAGGTCAGCCGCCCTACCTG 0.542000 32 22 1.62565e-12 2.04437e-12 0.760397 1 0 RNASE3 6037 broad.mit.edu 37 14 21360027 21360027 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:21360027G>A ENST00000304639.3 + 2 240 c.182G>A c.(181-183)cGa>cAa p.R61Q NM_002935.2 NP_002926.2 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 61 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) AACAATTATCGATGGCGTTGC 0.443000 26 25 0 0 0.667858 0 0 SLIT3 6586 broad.mit.edu 37 5 168671714 168671714 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:168671714C>A ENST00000519560.1 - 3 755 c.336G>T c.(334-336)gaG>gaT p.E112D SLIT3_ENST00000332966.8_Missense_Mutation_p.E112D|SLIT3_ENST00000404867.3_Missense_Mutation_p.E112D|SLIT3_ENST00000521130.1_5'UTR NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 112 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 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) CTTACAGTCGCTCTAGCTGCT 0.413000 21 28 0.00152264 0.00160993 0.592651 1 0 PTPRG 5793 broad.mit.edu 37 3 62063885 62063885 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:62063885G>A ENST00000474889.1 + 5 945 c.568G>A c.(568-570)Gca>Aca p.A190T PTPRG_ENST00000295874.10_Missense_Mutation_p.A190T NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 190 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CTTTCAAACCGCAATTTCTGA 0.294000 17 37 0 0 0.557998 0 0 TRPC6 7225 broad.mit.edu 37 11 101375429 101375429 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:101375429G>A ENST00000344327.3 - 2 695 c.271C>T c.(271-273)Cgc>Tgc p.R91C TRPC6_ENST00000348423.4_Missense_Mutation_p.R91C|TRPC6_ENST00000360497.4_Missense_Mutation_p.R91C|TRPC6_ENST00000532133.1_Missense_Mutation_p.R91C NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 91 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CTTGTGGAGCGATCACTAAAC 0.507000 32 111 0 0 0.796494 0 0 CES1P1 51716 broad.mit.edu 37 16 55798733 55798733 + RNA SNP G G C rs78337607 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:55798733G>C ENST00000571348.1 + 0 220 NR_003276.2 TTGCCAAGCCGCCTCTTGGAC 0.547000 3 8 0 0 0.184627 0 0 HTR1E 3354 broad.mit.edu 37 6 87725995 87725995 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:87725995G>T ENST00000305344.4 + 2 1646 c.943G>T c.(943-945)Ggt>Tgt p.G315C HTR1E_ENST00000369584.1_Missense_Mutation_p.G315C NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 315 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GTTGATTGTGGGTCTGAGCAT 0.498000 71 55 7.46257e-40 1.19114e-39 0.870114 1 0 PDS5B 23047 broad.mit.edu 37 13 33247430 33247430 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:33247430G>A ENST00000315596.10 + 8 969 c.783G>A c.(781-783)gaG>gaA p.E261E NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 261 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TAATTTTGGAGCTCTACAATA 0.338000 27 54 0 0 0.706142 0 0 GDF2 2658 broad.mit.edu 37 10 48413967 48413967 + Missense_Mutation SNP C C G rs41314469 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:48413967C>G ENST00000249598.1 - 2 1060 c.901G>C c.(901-903)Gag>Cag p.E301Q NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 301 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GTGTCCTCCTCGTGACTGCTC 0.622000 29 47 0 0 0.729181 0 0 OR2L13 284521 broad.mit.edu 37 1 248263312 248263312 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:248263312G>T ENST00000366478.2 + 3 972 c.635G>T c.(634-636)gGc>gTc p.G212V OR2L13_ENST00000358120.2_Missense_Mutation_p.G212V NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.G212D(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTTTCATTGGCATCACTTCT 0.428000 35 74 2.42023e-17 3.34799e-17 0.779181 1 0 SMTNL1 219537 broad.mit.edu 37 11 57317484 57317484 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:57317484G>A ENST00000457912.1 + 8 1438 c.1438G>A c.(1438-1440)Gtg>Atg p.V480M SMTNL1_ENST00000399154.2_Missense_Mutation_p.V425M|SMTNL1_ENST00000527972.1_Missense_Mutation_p.V462M E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 462 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GGATGACATGGTGCGGTTGGC 0.537000 12 27 0 0 0.411799 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270307 18270307 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:18270307G>T ENST00000377369.2 + 6 1264 c.991G>T c.(991-993)Gag>Tag p.E331* SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.E331*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.E331*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.E197* NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 331 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CATTTCTAAGGAGGACTTTAA 0.483000 24 59 1.64293e-13 2.11416e-13 0.654019 1 0 ASS1 445 broad.mit.edu 37 9 133333920 133333920 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:133333920G>C ENST00000372394.1 + 5 788 c.307G>C c.(307-309)Gtg>Ctg p.V103L ASS1_ENST00000352480.5_Missense_Mutation_p.V103L|ASS1_ENST00000372393.3_Missense_Mutation_p.V103L P00966 ASSY_HUMAN argininosuccinate synthase 1 103 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) CCGCAAACAAGTGGAAATCGC 0.652000 3 55 0 0 0.115264 0 0 OR6N1 128372 broad.mit.edu 37 1 158736044 158736044 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:158736044C>T ENST00000335094.2 - 1 448 c.429G>A c.(427-429)gaG>gaA p.E143E NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) CAATGGCAATCTCTGCACAAA 0.537000 12 34 0 0 0.411799 0 0 WIPF1 7456 broad.mit.edu 37 2 175437061 175437061 + Silent SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:175437061T>G ENST00000392547.2 - 5 571 c.472A>C c.(472-474)Aga>Cga p.R158R AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Silent_p.R158R|WIPF1_ENST00000409891.1_Silent_p.R158R|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Silent_p.R158R|WIPF1_ENST00000392546.2_Silent_p.R158R|WIPF1_ENST00000272746.5_Silent_p.R158R NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 158 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GGACCACTTCTGTGGCCTGGA 0.602000 18 64 0 0 0.539581 0 0 NPY4R 5540 broad.mit.edu 37 10 47087797 47087797 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:47087797G>T ENST00000374312.1 + 3 1433 c.1014G>T c.(1012-1014)ctG>ctT p.L338L NPY4R_ENST00000395716.1_Silent_p.L338L NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CCCTGGTGCTGACTTGCCAGC 0.567000 21 83 5.26018e-13 6.69111e-13 0.608945 1 0 STK11 6794 broad.mit.edu 37 19 1221261 1221261 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:1221261A>T ENST00000326873.7 + 6 1957 c.784A>T c.(784-786)Aag>Tag p.K262* NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 262 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAACATCTACAAGTTGTTTGA 0.582000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 12 4 0 0 0.435327 0 0 DRD2 1813 broad.mit.edu 37 11 113295259 113295259 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:113295259T>A ENST00000362072.3 - 2 459 c.115A>T c.(115-117)Aca>Tca p.T39S DRD2_ENST00000355319.2_Missense_Mutation_p.T39S|DRD2_ENST00000346454.3_Missense_Mutation_p.T39S|DRD2_ENST00000544518.1_Missense_Mutation_p.T39S|DRD2_ENST00000538967.1_Missense_Mutation_p.T39S|DRD2_ENST00000542968.1_Missense_Mutation_p.T39S NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 39 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GTGAGCAGTGTGGCATAGTAG 0.587000 30 54 0 0 0.740014 0 0 MTUS2 23281 broad.mit.edu 37 13 30062124 30062124 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:30062124C>A ENST00000431530.3 + 9 3575 c.3517C>A c.(3517-3519)Cac>Aac p.H1173N MTUS2_ENST00000542829.1_Missense_Mutation_p.H52N|MTUS2_ENST00000380808.2_Missense_Mutation_p.H142N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 1163 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GCAGGATGACCACGACCACAA 0.577000 23 63 1.33986e-20 1.94251e-20 0.681144 1 0 PCDH18 54510 broad.mit.edu 37 4 138442835 138442835 + Missense_Mutation SNP G G T rs139751813 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:138442835G>T ENST00000344876.4 - 4 3142 c.2756C>A c.(2755-2757)aCg>aAg p.T919K PCDH18_ENST00000511115.1_Missense_Mutation_p.T99K|PCDH18_ENST00000412923.2_Missense_Mutation_p.T918K|PCDH18_ENST00000510305.1_Missense_Mutation_p.T130K|PCDH18_ENST00000507846.1_Missense_Mutation_p.T698K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 919 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GCACTCCTCCGTGCAGAGTCT 0.433000 67 71 3.00472e-47 4.81917e-47 0.870114 1 0 C1orf173 127254 broad.mit.edu 37 1 75065541 75065541 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:75065541G>C ENST00000326665.5 - 11 1782 c.1564C>G c.(1564-1566)Caa>Gaa p.Q522E C1orf173_ENST00000420661.2_Missense_Mutation_p.Q325E|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 522 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCATTCATTTGAACATCAGCC 0.383000 33 140 0 0 0.779181 0 0 FAM46D 169966 broad.mit.edu 37 X 79699185 79699185 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chrX:79699185C>T ENST00000538312.1 + 5 1481 c.1147C>T c.(1147-1149)Cgt>Tgt p.R383C FAM46D_ENST00000308293.5_Missense_Mutation_p.R383C NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 383 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ACTGCACTTTCGTGGATCAAA 0.403000 15 6 0 0 0.557998 0 0 RP1L1 94137 broad.mit.edu 37 8 10467346 10467346 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:10467346G>T ENST00000382483.3 - 4 4485 c.4262C>A c.(4261-4263)tCc>tAc p.S1421Y NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1421 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ATCTTCCTGGGAGCCTTTCCC 0.607000 166 362 2.05284e-59 3.3246e-59 0.870114 1 0 GALNT15 117248 broad.mit.edu 37 3 16237266 16237266 + Splice_Site SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:16237266G>A ENST00000339732.5 + 2 1042 c.e2-1 GALNT15_ENST00000437509.1_Splice_Site NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CTTCCCTGCAGGTGTCTGCAG 0.597000 10 33 0 0 0.361761 0 0 GLT8D2 83468 broad.mit.edu 37 12 104393232 104393232 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:104393232C>T ENST00000360814.4 - 6 750 c.345G>A c.(343-345)ccG>ccA p.P115P GLT8D2_ENST00000548660.1_Silent_p.P115P|GLT8D2_ENST00000546436.1_Silent_p.P115P NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 115 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TGAGGACCATCGGGTTGAATT 0.438000 66 43 0 0 0.870114 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331208 100331208 + RNA SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:100331208C>A ENST00000341853.1 - 0 2983 NR_003260.1 GGGCTTGGAGCATTAAGGCCA 0.567000 43 117 4.64027e-19 6.64038e-19 0.870114 1 0 SOCS6 9306 broad.mit.edu 37 18 67992908 67992908 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:67992908A>T ENST00000397942.3 + 2 1320 c.1004A>T c.(1003-1005)cAc>cTc p.H335L SOCS6_ENST00000582322.1_Missense_Mutation_p.H335L NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 335 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) ACAGAAGCCCACGTGGCTGAA 0.488000 13 42 0 0 0.435327 0 0 BOC 91653 broad.mit.edu 37 3 112993230 112993230 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:112993230C>A ENST00000495514.1 + 9 1947 c.1243C>A c.(1243-1245)Cca>Aca p.P415T BOC_ENST00000273395.4_Missense_Mutation_p.P415T|BOC_ENST00000355385.3_Missense_Mutation_p.P415T Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 415 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) AGGCATAACCCCAAGGCTATG 0.552000 22 62 5.35356e-11 6.5586e-11 0.639603 1 0 TAS2R60 338398 broad.mit.edu 37 7 143140732 143140732 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:143140732G>T ENST00000332690.1 + 1 187 c.187G>T c.(187-189)Ggg>Tgg p.G63W EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 63 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) GGTTAGCCTAGGGGCCTCTCG 0.498000 63 61 1.53122e-18 2.18182e-18 0.870114 1 0 SRSF2 6427 broad.mit.edu 37 17 74732914 74732914 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:74732914T>C ENST00000392485.2 - 1 501 c.329A>G c.(328-330)tAc>tGc p.Y110C RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Intron|SRSF2_ENST00000359995.5_Missense_Mutation_p.Y110C|MFSD11_ENST00000586622.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 110 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 ACCGCCCCCGTACCTGCGGGG 0.786000 Mis """MDS, CLL""" 9 22 0 0 0.335167 0 0 FBXO15 201456 broad.mit.edu 37 18 71793305 71793305 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:71793305T>A ENST00000269500.5 - 6 924 c.589A>T c.(589-591)Aat>Tat p.N197Y FBXO15_ENST00000419743.2_Missense_Mutation_p.N273Y NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 197 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TGACTCAGATTGTACTTTGCA 0.463000 27 93 0 0 0.729181 0 0 GPR148 344561 broad.mit.edu 37 2 131486911 131486911 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:131486911A>T ENST00000309926.4 + 1 269 c.187A>T c.(187-189)Aca>Tca p.T63S NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 63 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) GGCTGCAGCCACACTGGCTGT 0.632000 32 36 0 0 0.760397 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761847 77761847 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:77761847C>T ENST00000521891.2 + 8 4193 c.3745C>T c.(3745-3747)Cct>Tct p.P1249S ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1223S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1204S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1204S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1204 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATCTGCTGTCCTCTCTGTCA 0.488000 HNSCC(33;0.089) 10 66 0 0 0.335167 0 0 UBBP4 23666 broad.mit.edu 37 17 21731316 21731316 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:21731316A>T ENST00000584755.1 + 2 1015 c.618A>T c.(616-618)gtA>gtT p.V206V UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AGATGGCGGTACTCTTTCTGA 0.517000 49 52 0 0 0.870114 0 0 TVP23C 201158 broad.mit.edu 37 17 15406338 15406338 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:15406338G>A ENST00000225576.3 - 6 766 c.671C>T c.(670-672)cCa>cTa p.P224L TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron NM_145301.2 NP_660344.2 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) ACGAAGAGGTGGAGAACTAAG 0.587000 16 49 0 0 0.479597 0 0 GBP4 115361 broad.mit.edu 37 1 89662846 89662846 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:89662846A>G ENST00000355754.6 - 2 279 c.182T>C c.(181-183)cTa>cCa p.L61P NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 61 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) TGTGCGGTATAGCCCTACAAT 0.478000 27 35 0 0 0.693898 0 0 CNTN5 53942 broad.mit.edu 37 11 99941210 99941210 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:99941210C>A ENST00000524871.1 + 11 1507 c.1217C>A c.(1216-1218)cCt>cAt p.P406H CNTN5_ENST00000528682.1_Missense_Mutation_p.P406H|CNTN5_ENST00000279463.3_Missense_Mutation_p.P406H|CNTN5_ENST00000527185.1_Missense_Mutation_p.P406H|CNTN5_ENST00000418526.2_Missense_Mutation_p.P332H NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 406 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGTGGGAGCCCTCTCCGATGG 0.458000 6 24 0.00116845 0.00123937 0.217242 1 0 SPTLC3 55304 broad.mit.edu 37 20 13055137 13055137 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:13055137A>T ENST00000399002.2 + 4 873 c.599A>T c.(598-600)cAt>cTt p.H200L SPTLC3_ENST00000378194.4_Missense_Mutation_p.H200L NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 200 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AGCACCAGGCATGAAATGGGT 0.423000 73 109 0 0 0.870114 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52389893 52389893 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:52389893G>T ENST00000443374.1 + 0 586 TGTATGCTGGGTCGTTTTCCT 0.403000 10 20 4.68919e-08 5.38689e-08 0.361761 1 0 OR4C12 283093 broad.mit.edu 37 11 50003155 50003155 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:50003155C>T ENST00000335238.4 - 1 916 c.883G>A c.(883-885)Gca>Aca p.A295T NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TTCCTTATTGCACTTTTTACC 0.368000 13 51 0 0 0.435327 0 0 AMDHD1 144193 broad.mit.edu 37 12 96350688 96350688 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr12:96350688G>A ENST00000266736.2 + 4 641 c.535G>A c.(535-537)Gag>Aag p.E179K NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 179 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 CGCCCGGCGGGAGCTGGACAT 0.602000 6 137 0 0 0.217242 0 0 LINC00922 283867 broad.mit.edu 37 16 65345315 65345315 + RNA SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:65345315A>T ENST00000569736.1 - 0 819 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 GGAGGTACTCACCTTCGTGAG 0.403000 30 73 0 0 0.760397 0 0 GRIK3 2899 broad.mit.edu 37 1 37307529 37307529 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:37307529G>A ENST00000373091.3 - 10 1354 c.1338C>T c.(1336-1338)ttC>ttT p.F446F GRIK3_ENST00000373093.4_Silent_p.F446F NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 446 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GAAACATGACGAAGGGCTCCT 0.577000 6 98 0 0 0.248553 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31727709 31727709 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr6:31727709C>A ENST00000493662.2 + 18 1749 c.1693C>A c.(1693-1695)Cgt>Agt p.R565S MSH5_ENST00000395853.1_Missense_Mutation_p.R222S|MSH5_ENST00000375750.3_Missense_Mutation_p.R548S|MSH5_ENST00000375742.3_Missense_Mutation_p.R565S|MSH5_ENST00000431848.2_Missense_Mutation_p.R247S|MSH5_ENST00000375703.3_Missense_Mutation_p.R548S|MSH5_ENST00000375740.3_Missense_Mutation_p.R565S|MSH5_ENST00000375755.3_Missense_Mutation_p.R548S|MSH5_ENST00000534153.4_Missense_Mutation_p.R565S CTCAAGGCCGCGTTACTCCCC 0.572000 34 59 4.31634e-10 5.21099e-10 0.760397 1 0 OR2L13 284521 broad.mit.edu 37 1 248263049 248263049 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:248263049C>A ENST00000366478.2 + 3 709 c.372C>A c.(370-372)gcC>gcA p.A124A OR2L13_ENST00000358120.2_Silent_p.A124A NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GTTATTTGGCCATCTGCCACT 0.502000 61 273 1.12357e-39 1.78481e-39 0.870114 1 0 PELI2 57161 broad.mit.edu 37 14 56746457 56746457 + Missense_Mutation SNP G G A rs151092148 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:56746457G>A ENST00000267460.4 + 3 557 c.271G>A c.(271-273)Gtg>Atg p.V91M NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 91 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 GACTGTGGTGGTGGAGTACAC 0.303000 38 63 0 0 0.853193 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473040 22473040 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:22473040G>T ENST00000557788.2 - 0 230 GGTTGTAGTTGGGGCTCCCAC 0.582000 33 274 6.84511e-11 8.35506e-11 0.779181 1 0 INPP5J 27124 broad.mit.edu 37 22 31523954 31523954 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:31523954G>T ENST00000331075.5 + 7 1854 c.1805G>T c.(1804-1806)gGg>gTg p.G602V INPP5J_ENST00000400294.2_Missense_Mutation_p.G235V|INPP5J_ENST00000401755.1_5'UTR|INPP5J_ENST00000402238.1_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.G234V|INPP5J_ENST00000412277.2_Missense_Mutation_p.G535V|INPP5J_ENST00000405300.1_Missense_Mutation_p.G235V|INPP5J_ENST00000404453.1_5'UTR Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 602 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 TTCTGGTTCGGGGACCTGAAC 0.587000 12 28 4.3838e-07 4.93363e-07 0.435327 1 0 C5orf20 140947 broad.mit.edu 37 5 134782574 134782574 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:134782574G>T ENST00000503143.2 - 1 464 c.225C>A c.(223-225)acC>acA p.T75T TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 75 T -> P (in dbSNP:rs1031844). nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGCTGGCAAGGTTTTGTTCC 0.602000 15 43 1.05317e-09 1.24432e-09 0.457914 1 0 CETN1 1068 broad.mit.edu 37 18 580499 580499 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:580499C>A ENST00000327228.3 + 1 133 c.91C>A c.(91-93)Caa>Aaa p.Q31K NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 31 EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GGATCAGAAGCAAGAAGTTCG 0.597000 16 12 1.3612e-06 1.52161e-06 0.479597 1 0 RYR3 6263 broad.mit.edu 37 15 34145788 34145788 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:34145788A>G ENST00000389232.4 + 96 13774 c.13704A>G c.(13702-13704)gcA>gcG p.A4568A RYR3_ENST00000415757.3_Silent_p.A4563A|RYR3_ENST00000559917.1_3'UTR NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4568 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCTACGGAGCAGAACGCATTG 0.488000 9 32 0 0 0.307466 0 0 TRPC6 7225 broad.mit.edu 37 11 101375428 101375428 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:101375428C>G ENST00000344327.3 - 2 696 c.272G>C c.(271-273)cGc>cCc p.R91P TRPC6_ENST00000348423.4_Missense_Mutation_p.R91P|TRPC6_ENST00000360497.4_Missense_Mutation_p.R91P|TRPC6_ENST00000532133.1_Missense_Mutation_p.R91P NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 91 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GCTTGTGGAGCGATCACTAAA 0.507000 33 108 0 0 0.804634 0 0 LCT 3938 broad.mit.edu 37 2 136562352 136562352 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:136562352G>A ENST00000264162.2 - 10 4459 c.4449C>T c.(4447-4449)gcC>gcT p.A1483A NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1483 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCTGGATGCTGGCGGCCAGCA 0.562000 14 51 0 0 0.500413 0 0 CLPTM1 1209 broad.mit.edu 37 19 45488522 45488522 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:45488522G>T ENST00000541297.2 + 6 1056 c.591G>T c.(589-591)ctG>ctT p.L197L CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.L109L|CLPTM1_ENST00000337392.5_Silent_p.L211L O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 211 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CCAAGAACCTGCTGACAGGAG 0.542000 9 10 3.86212e-05 4.23176e-05 0.361761 1 0 GRM5 2915 broad.mit.edu 37 11 88338066 88338066 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:88338066T>C ENST00000418177.2 - 5 1581 c.1214A>G c.(1213-1215)tAt>tGt p.Y405C GRM5_ENST00000393297.1_Missense_Mutation_p.Y405C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y405C|GRM5_ENST00000305432.5_Missense_Mutation_p.Y405C|GRM5_ENST00000305447.4_Missense_Mutation_p.Y405C P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 405 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGCCATCGAATAGATGGCGTT 0.458000 12 59 0 0 0.387290 0 0 DIP2A 23181 broad.mit.edu 37 21 47970476 47970476 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:47970476G>T ENST00000318711.7 + 23 2844 c.2661G>T c.(2659-2661)caG>caT p.Q887H DIP2A_ENST00000417564.2_Missense_Mutation_p.Q886H|DIP2A_ENST00000400274.1_Missense_Mutation_p.Q882H|DIP2A_ENST00000427143.2_Missense_Mutation_p.Q822H NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 886 multicellular organismal development nucleus catalytic activity|transcription factor binding p.Q886H(1)|p.Q822H(1)|p.Q887H(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCATCCACCAGGTGGGCGTGT 0.582000 15 14 1.37285e-15 1.86036e-15 0.500413 1 0 MVP 9961 broad.mit.edu 37 16 29848101 29848101 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr16:29848101G>T ENST00000357402.5 + 7 869 c.731G>T c.(730-732)cGc>cTc p.R244L MVP_ENST00000395353.1_Missense_Mutation_p.R244L|MVP_ENST00000452209.2_Silent_p.P58P NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 244 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GTGTCCCGCCGCACTGGGGAG 0.637000 21 29 1.22574e-08 1.42788e-08 0.624587 1 0 SCFD2 152579 broad.mit.edu 37 4 54231754 54231754 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:54231754G>C ENST00000401642.3 - 1 488 c.355C>G c.(355-357)Cca>Gca p.P119A SCFD2_ENST00000388940.4_Missense_Mutation_p.P119A NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 119 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) GCCGCCGCTGGGACATGATTA 0.597000 21 26 0 0 0.608945 0 0 SNX7 51375 broad.mit.edu 37 1 99156702 99156702 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:99156702G>A ENST00000370189.5 + 4 607 c.243G>A c.(241-243)aaG>aaA p.K81K SNX7_ENST00000306121.3_Silent_p.K145K|SNX7_ENST00000529992.1_Silent_p.K145K Q9UNH6 SNX7_HUMAN sorting nexin 7 81 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TTTGGTTGAAGGGAAAACTGG 0.368000 11 30 0 0 0.361761 0 0 FAM171B 165215 broad.mit.edu 37 2 187627263 187627263 + Nonsense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:187627263C>T ENST00000304698.5 + 8 2397 c.2194C>T c.(2194-2196)Cag>Tag p.Q732* NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 732 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AAGCATGCATCAGCCCAAGAT 0.483000 5 85 0 0 0.184627 0 0 EIF2B3 8891 broad.mit.edu 37 1 45323445 45323445 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:45323445C>A ENST00000360403.2 - 11 1363 c.1237G>T c.(1237-1239)Gct>Tct p.A413S NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 413 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) TCGATCACAGCATTGTTGCAG 0.458000 52 60 6.56871e-35 1.03356e-34 0.870114 1 0 VIM 7431 broad.mit.edu 37 10 17275634 17275634 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:17275634G>T ENST00000544301.1 + 4 1086 c.673G>T c.(673-675)Gaa>Taa p.E225* RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Nonsense_Mutation_p.E225* NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 225 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACGCAAAGTGGAATCTTTGCA 0.458000 30 38 4.74835e-14 6.20651e-14 0.750413 1 0 MTMR14 64419 broad.mit.edu 37 3 9730437 9730437 + Splice_Site SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:9730437G>A ENST00000296003.4 + 15 1415 c.1294_splice c.e15+1 p.L431_splice MTMR14_ENST00000420925.1_Splice_Site_p.L185_splice|MTMR14_ENST00000351233.5_Splice_Site_p.L431_splice|MTMR14_ENST00000353332.5_Splice_Site_p.L431_splice NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 431 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) TCTGCATGCTGAGTGAGTCCT 0.498000 5 68 0 0 0.184627 0 0 NPY1R 4886 broad.mit.edu 37 4 164247218 164247218 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:164247218C>A ENST00000296533.2 - 2 1020 c.489G>T c.(487-489)tgG>tgT p.W163C NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 163 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGCAAGGACCCAAATCACAG 0.438000 57 44 1.59911e-31 2.49251e-31 0.870114 1 0 CALCR 799 broad.mit.edu 37 7 93063564 93063564 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:93063564C>A ENST00000359558.2 - 15 1593 c.e15+1 CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000360249.4_Splice_Site NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TGCATGCTTACCTCATTGTTG 0.358000 26 45 6.38683e-12 7.97153e-12 0.729181 1 0 SLC18A2 6571 broad.mit.edu 37 10 119013584 119013584 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr10:119013584C>A ENST00000298472.5 + 5 692 c.549C>A c.(547-549)gcC>gcA p.A183A SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 183 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GCAGCTATGCCTTCCTGCTGA 0.597000 63 103 3.30712e-30 5.03653e-30 0.870114 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171198 68171198 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr17:68171198C>A ENST00000243457.3 + 2 401 c.18C>A c.(16-18)acC>acA p.T6T KCNJ2_ENST00000535240.1_Silent_p.T6T NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 6 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) GTGTGCGAACCAACCGCTACA 0.493000 15 27 2.35188e-11 2.90269e-11 0.539581 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 63 0 0 0.184627 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681338 44681338 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:44681338G>T ENST00000381176.4 - 4 701 c.569C>A c.(568-570)cCg>cAg p.P190Q NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 190 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GGTCATCAGCGGTGGGCTGTG 0.617000 24 70 3.73988e-18 5.30616e-18 0.706142 1 0 FRY 10129 broad.mit.edu 37 13 32745188 32745188 + Silent SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:32745188A>C ENST00000380250.3 + 18 2428 c.1932A>C c.(1930-1932)gcA>gcC p.A644A NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 644 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GACATATTGCACAAAATTCTC 0.363000 41 85 0 0 0.853193 0 0 SLC39A6 25800 broad.mit.edu 37 18 33704551 33704551 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:33704551C>A ENST00000269187.5 - 3 1115 c.902G>T c.(901-903)aGa>aTa p.R301I SLC39A6_ENST00000590986.1_Missense_Mutation_p.R301I|SLC39A6_ENST00000440549.2_Missense_Mutation_p.R26I NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 301 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 CAGACAAGATCTAGCATCAAT 0.383000 19 58 1.56452e-12 1.97499e-12 0.557998 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766851 77766851 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:77766851C>A ENST00000521891.2 + 10 8142 c.7694C>A c.(7693-7695)tCc>tAc p.S2565Y ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2539Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2520Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2520Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2520 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGGCCAGTTCCTCCCACACC 0.498000 HNSCC(33;0.089) 32 52 5.60225e-13 7.09903e-13 0.740014 1 0 NOX5 79400 broad.mit.edu 37 15 69339834 69339834 + Missense_Mutation SNP G G A rs145431252 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:69339834G>A ENST00000260364.5 + 13 2021 c.1720G>A c.(1720-1722)Ggc>Agc p.G574S NOX5_ENST00000448182.3_Missense_Mutation_p.G546S|NOX5_ENST00000455873.3_Missense_Mutation_p.G557S|NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000388866.3_Missense_Mutation_p.G592S|NOX5_ENST00000530406.2_Missense_Mutation_p.G564S Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 592 FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GGCAGGCATCGGCATCACCCC 0.602000 11 41 0 0 0.411799 0 0 PRSS38 339501 broad.mit.edu 37 1 228003938 228003938 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:228003938C>A ENST00000366757.3 + 2 320 c.296C>A c.(295-297)gCg>gAg p.A99E NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 99 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTGTCAGCTGCGCACTGCTTT 0.672000 49 102 1.30916e-28 1.95785e-28 0.870114 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801006 185801006 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:185801006G>T ENST00000302277.6 + 4 1477 c.883G>T c.(883-885)Gag>Tag p.E295* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 295 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TCAAACTCAAGAGATAAAAGA 0.348000 38 34 1.36161e-19 1.95695e-19 0.796494 1 0 MCTP2 55784 broad.mit.edu 37 15 94841680 94841680 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:94841680C>T ENST00000357742.4 + 1 186 c.186C>T c.(184-186)gcC>gcT p.A62A MCTP2_ENST00000451018.3_Silent_p.A62A|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Silent_p.A62A NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 62 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGGCCTTGGCCCCAGAGGGCC 0.607000 22 49 0 0 0.608945 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580431 140580431 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:140580431G>C ENST00000354757.3 + 1 1084 c.1084G>C c.(1084-1086)Gag>Cag p.E362Q PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 362 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACGCCAGAGACCGTGGT 0.408000 38 79 0 0 0.804634 0 0 DLX2 1746 broad.mit.edu 37 2 172965613 172965613 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:172965613C>G ENST00000234198.4 - 3 1006 c.645G>C c.(643-645)gaG>gaC p.E215D DLX2_ENST00000466293.2_3'UTR NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 215 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCGAGGGGATCTCACCACTTT 0.577000 8 39 0 0 0.278610 0 0 PRC1 9055 broad.mit.edu 37 15 91512705 91512705 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:91512705G>T ENST00000361188.5 - 13 2932 c.1721C>A c.(1720-1722)tCt>tAt p.S574Y PRC1_ENST00000442656.2_Intron|PRC1_ENST00000394249.3_Missense_Mutation_p.S574Y|PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Intron O43663 PRC1_HUMAN protein regulator of cytokinesis 1 574 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) GCTGGCAACAGAATTAATGCT 0.542000 5 119 0.00116845 0.00123937 0.217242 1 0 PSD4 23550 broad.mit.edu 37 2 113955142 113955142 + Splice_Site SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:113955142G>A ENST00000245796.6 + 13 2583 c.2386_splice c.e13-1 p.T796_splice PSD4_ENST00000441564.2_Splice_Site_p.T768_splice NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 796 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGGAACAGCGCCATGGGGCA 0.547000 20 28 0 0 0.624587 0 0 ABCA13 154664 broad.mit.edu 37 7 48626780 48626780 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:48626780C>G ENST00000435803.1 + 57 14560 c.14536C>G c.(14536-14538)Ctc>Gtc p.L4846V ABCA13_ENST00000544596.1_Missense_Mutation_p.L576V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4846 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCGCTTACACCTCGAAGCCCA 0.572000 12 11 0 0 0.387290 0 0 GADD45G 10912 broad.mit.edu 37 9 92220638 92220638 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:92220638A>G ENST00000252506.6 + 3 321 c.212A>G c.(211-213)gAc>gGc p.D71G GADD45G_ENST00000494726.1_Intron|GADD45G_ENST00000375769.1_Missense_Mutation_p.D53G NM_006705.3 NP_006696.1 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 71 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding lung(2) 2 GACGAGGGCGACATCGCGCTG 0.627000 18 21 0 0 0.575678 0 0 GABRA2 2555 broad.mit.edu 37 4 46252494 46252494 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:46252494G>A ENST00000510861.1 - 10 1360 c.1187C>T c.(1186-1188)cCc>cTc p.P396L GABRA2_ENST00000381620.4_Missense_Mutation_p.P396L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P396L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P396L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P456L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P401L P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 396 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTCTTGTTGGGTTCTGGCGT 0.428000 62 178 0 0 0.870114 0 0 NUF2 83540 broad.mit.edu 37 1 163315514 163315514 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:163315514G>T ENST00000271452.3 + 11 1133 c.854G>T c.(853-855)tGc>tTc p.C285F NUF2_ENST00000524800.1_Intron|NUF2_ENST00000367900.3_Missense_Mutation_p.C285F NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 285 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) TCAGTTGACTGCCTGCCTTCA 0.368000 33 77 1.22384e-17 1.7072e-17 0.769981 1 0 SYNE2 23224 broad.mit.edu 37 14 64634321 64634321 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr14:64634321C>A ENST00000357395.3 + 93 17168 c.6024C>A c.(6022-6024)agC>agA p.S2008R SYNE2_ENST00000555002.1_Missense_Mutation_p.S2257R|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5498R|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5623R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2008R|SYNE2_ENST00000344113.4_Missense_Mutation_p.S5623R Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5623 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) TGGCTAACAGCCTTCCTGAGC 0.458000 17 46 3.52763e-06 3.93011e-06 0.520397 1 0 CAMSAP1 157922 broad.mit.edu 37 9 138713787 138713787 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr9:138713787C>T ENST00000389532.4 - 11 2784 c.2720G>A c.(2719-2721)cGc>cAc p.R907H CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R629H|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R918H NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 907 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GAGCTTCAGGCGCTGCCTTGC 0.617000 60 97 0 0 0.870114 0 0 FNIP1 96459 broad.mit.edu 37 5 131080266 131080266 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:131080266T>C ENST00000514667.1 - 2 271 c.210A>G c.(208-210)atA>atG p.I70M FNIP1_ENST00000307954.8_Missense_Mutation_p.I70M|FNIP1_ENST00000510461.1_Missense_Mutation_p.I70M|FNIP1_ENST00000511848.1_Missense_Mutation_p.I70M|FNIP1_ENST00000307968.7_Missense_Mutation_p.I70M folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CCGATACTGATATGTCCTCAT 0.368000 38 51 0 0 0.859065 0 0 CPED1 79974 broad.mit.edu 37 7 120780890 120780890 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:120780890C>A ENST00000310396.5 + 15 2176 c.1709C>A c.(1708-1710)aCa>aAa p.T570K CPED1_ENST00000423795.1_Missense_Mutation_p.T350K|CPED1_ENST00000450913.2_Missense_Mutation_p.T570K NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GATGAAAACACACCATGTCAT 0.303000 9 33 0.0477658 0.0489452 0.307466 1 0 IGLC2 3538 broad.mit.edu 37 22 23243367 23243367 + RNA SNP T T C rs8033 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:23243367T>C ENST00000390323.2 + 0 212 CCAGCAGCTATCTGAGCCTGA 0.587000 3 9 0 0 0.115264 0 0 STARD8 9754 broad.mit.edu 37 X 67937210 67937210 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chrX:67937210G>T ENST00000252336.6 + 5 586 c.214G>T c.(214-216)Gag>Tag p.E72* STARD8_ENST00000374597.3_Nonsense_Mutation_p.E72*|STARD8_ENST00000374599.3_Nonsense_Mutation_p.E152* NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 72 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity 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 CGTCCTCACCGAGCTTAGTGC 0.642000 4 4 0.014758 0.0151692 0.184627 1 0 ING1 3621 broad.mit.edu 37 13 111372015 111372015 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr13:111372015C>T ENST00000375774.3 + 2 1467 c.1005C>T c.(1003-1005)gcC>gcT p.A335A ING1_ENST00000338450.7_Silent_p.A148A|ING1_ENST00000375775.3_Silent_p.A123A|ING1_ENST00000333219.7_Silent_p.A192A NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 335 A -> D (in HNSCC). cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GCTCCAAGGCCAAGGCGGAGC 0.627000 21 34 0 0 0.592651 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48602932 48602932 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:48602932C>A ENST00000354276.3 - 5 770 c.443G>T c.(442-444)aGa>aTa p.R148I PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R148I|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R158I|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R148I NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 148 PLA2c. R -> G (in dbSNP:rs2307282). arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) ACTTACTTCTCTGGTTTGCTT 0.522000 48 18 5.2432e-18 7.40742e-18 0.870114 1 0 NCKAP5 344148 broad.mit.edu 37 2 133636466 133636466 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:133636466C>G ENST00000409261.1 - 9 976 c.603G>C c.(601-603)ttG>ttC p.L201F NCKAP5_ENST00000409213.1_Missense_Mutation_p.L201F|NCKAP5_ENST00000405974.3_Missense_Mutation_p.L201F|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L201F NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 201 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 TTTCATTCTCCAAAGCCAACG 0.403000 18 51 0 0 0.539581 0 0 SNRPD3 6634 broad.mit.edu 37 22 24964112 24964112 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr22:24964112G>T ENST00000215829.3 + 3 874 c.287G>T c.(286-288)gGc>gTc p.G96V SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96V NM_001278656.1|NM_004175.3 NP_001265585.1|NP_004166.1 P62318 SMD3_HUMAN small nuclear ribonucleoprotein D3 polypeptide 18kDa 96 Arg/Lys-rich (basic). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 TCAGGGGCTGGCCGAGGAAAA 0.453000 26 40 1.77063e-15 2.38963e-15 0.693898 1 0 BMPER 168667 broad.mit.edu 37 7 34085917 34085917 + Splice_Site SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:34085917G>T ENST00000297161.2 + 8 950 c.e8-1 BMPER_ENST00000494786.1_Splice_Site|BMPER_ENST00000426693.1_Splice_Site NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TCTTTTCTTAGGGAGGCAGGA 0.433000 28 112 2.12542e-12 2.66278e-12 0.706142 1 0 LDHAL6B 92483 broad.mit.edu 37 15 59499557 59499557 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:59499557C>A ENST00000307144.4 + 1 516 c.418C>A c.(418-420)Cta>Ata p.L140I MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 140 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) AAACTCCAACCTAGTGATTAT 0.428000 75 78 3.41413e-29 5.16017e-29 0.870114 1 0 FAM86EP 348926 broad.mit.edu 37 4 3954855 3954855 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:3954855G>T ENST00000281228.8 - 0 143 FAM86EP_ENST00000313946.8_RNA AAAATATCCCGCCGCAGCTCA 0.493000 4 87 0.184627 0.185187 0.184627 1 0 CHD7 55636 broad.mit.edu 37 8 61774827 61774827 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:61774827A>T ENST00000423902.2 + 36 8382 c.7903A>T c.(7903-7905)Aaa>Taa p.K2635* CHD7_ENST00000524602.1_Nonsense_Mutation_p.K586* NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2635 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAACCCTAATAAATTGGATAT 0.368000 11 14 0 0 0.387290 0 0 KCNU1 157855 broad.mit.edu 37 8 36698451 36698451 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:36698451C>A ENST00000399881.3 + 16 1670 c.1631_splice c.e16-1 p.L545_splice NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 545 Segment S8. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCTTCCCAGGCTCTGCTTTCT 0.463000 10 27 1.33987e-11 1.66104e-11 0.361761 1 0 FAM153A 285596 broad.mit.edu 37 5 177158588 177158588 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:177158588G>A ENST00000440605.3 - 15 896 c.613C>T c.(613-615)Cca>Tca p.P205S FAM153A_ENST00000510276.1_Missense_Mutation_p.P205S|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Missense_Mutation_p.P73S NM_173663.3 NP_775934.3 Q9UHL3 F153A_HUMAN family with sequence similarity 153, member A 205 kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCGTGGCTGGGTCCACCTGC 0.463000 31 17 0 0 0.796494 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767876 77767876 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:77767876C>G ENST00000521891.2 + 10 9167 c.8719C>G c.(8719-8721)Ccg>Gcg p.P2907A ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2881A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2862A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2862A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2862 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATAGCGGACCCGAGCTCCCC 0.502000 HNSCC(33;0.089) 21 28 0 0 0.608945 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1844550 1844550 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:1844550A>G ENST00000518288.1 + 15 1730 c.1567A>G c.(1567-1569)Agc>Ggc p.S523G ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S460G|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.S523G|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S498G|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.S484G|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S523G O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 523 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GAACAATTTCAGCACAGCCGT 0.403000 41 57 0 0 0.827153 0 0 UNC13C 440279 broad.mit.edu 37 15 54685309 54685309 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:54685309C>G ENST00000545554.1 + 17 4777 c.4777C>G c.(4777-4779)Ccc>Gcc p.P1593A UNC13C_ENST00000260323.11_Missense_Mutation_p.P1593A|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1591A Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1593 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) GGATTTTTGGCCCCAACTTAT 0.393000 29 35 0 0 0.740014 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481614 140481614 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:140481614C>T ENST00000231130.2 + 1 1381 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 461 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGTTCGTCCGCGAGAACAA 0.602000 113 111 0 0 0.870114 0 0 IQCB1 9657 broad.mit.edu 37 3 121547406 121547406 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:121547406G>A ENST00000310864.6 - 4 388 c.174C>T c.(172-174)ctC>ctT p.L58L IQCB1_ENST00000349820.6_Silent_p.L58L NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 58 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) AATATTGAATGAGATCATAAC 0.328000 22 39 0 0 0.608945 0 0 GSTO2 119391 broad.mit.edu 37 10 106037800 106037800 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:106037800C>T ENST00000450629.2 + 4 920 c.292C>T c.(292-294)Cca>Tca p.P98S GSTO2_ENST00000338595.2_Missense_Mutation_p.P98S|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000369707.1_Missense_Mutation_p.P70S|GSTO2_ENST00000401888.2_Missense_Mutation_p.P98S|GSTO2_ENST00000429569.2_Missense_Mutation_p.P70S NM_001191013.1 NP_001177942.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 98 GST N-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TGATGCTTATCCAGGAAGGAA 0.408000 26 42 0 0 0.667858 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 71 0 0 0.217242 0 0 MET 4233 broad.mit.edu 37 7 116397705 116397705 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:116397705C>G ENST00000397752.3 + 8 2179 c.1979C>G c.(1978-1980)aCa>aGa p.T660R MET_ENST00000318493.6_Missense_Mutation_p.T660R|MET_ENST00000436117.2_Missense_Mutation_p.T660R NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 660 IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CCTGTAATAACAAGTATTTCG 0.333000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 25 42 0 0 0.667858 0 0 RGS10 6001 broad.mit.edu 37 10 121275037 121275037 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:121275037T>C ENST00000392865.1 - 4 403 c.341A>G c.(340-342)cAg>cGg p.Q114R RGS10_ENST00000369103.2_Missense_Mutation_p.Q128R|RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369101.3_Missense_Mutation_p.Q120R NM_002925.3 NP_002916.1 O43665 RGS10_HUMAN regulator of G-protein signaling 10 120 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|large_intestine(1)|lung(3) 6 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) CTGGAGTTTCTGGAACATCAG 0.512000 15 33 0 0 0.479597 0 0 LOC440040 440040 broad.mit.edu 37 11 49597924 49597924 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:49597924G>T ENST00000527477.1 + 0 528 TCTCTTTTCTGTTCATCACCA 0.512000 8 32 0.000157383 0.000170241 0.278610 1 0 PANK1 53354 broad.mit.edu 37 10 91404709 91404709 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:91404709C>T ENST00000307534.4 - 1 506 c.351G>A c.(349-351)gaG>gaA p.E117E NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 117 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) GGAGGTCATTCTCCGGCGTCT 0.741000 8 18 0 0 0.278610 0 0 SLC34A1 6569 broad.mit.edu 37 5 176824901 176824901 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:176824901C>T ENST00000324417.5 + 13 1625 c.1534C>T c.(1534-1536)Cgc>Tgc p.R512C SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 512 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCAAGTACCGCTGGTTTGC 0.607000 62 62 0 0 0.870114 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480970 140480970 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:140480970T>A ENST00000231130.2 + 1 737 c.737T>A c.(736-738)cTc>cAc p.L246H AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 246 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACAGCCGCTCTATGAGGTT 0.493000 53 65 0 0 0.870114 0 0 GOLIM4 27333 broad.mit.edu 37 3 167813020 167813020 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:167813020C>A ENST00000470487.1 - 1 743 c.54G>T c.(52-54)ctG>ctT p.L18L GOLIM4_ENST00000309027.4_Silent_p.L18L NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 18 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CGGTCAGCAGCAGCAGCGTCT 0.647000 11 19 2.27111e-07 2.5922e-07 0.411799 1 0 OR5F1 338674 broad.mit.edu 37 11 55762023 55762023 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:55762023G>C ENST00000278409.1 - 1 78 c.79C>G c.(79-81)Ctc>Gtc p.L27V NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) AACAAAAAGAGGATAATCTGT 0.383000 34 45 0 0 0.760397 0 0 MYO7A 4647 broad.mit.edu 37 11 76853808 76853808 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:76853808C>A ENST00000409709.3 + 3 344 c.72C>A c.(70-72)atC>atA p.I24I MYO7A_ENST00000409893.1_Silent_p.I24I|MYO7A_ENST00000409619.2_Silent_p.I13I|MYO7A_ENST00000458637.2_Silent_p.I24I NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 24 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACGTGCCCATCGGGGCGGTGG 0.622000 3 11 0.00909568 0.00937903 0.150653 1 0 NDUFA13 51079 broad.mit.edu 37 19 19626988 19626988 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:19626988A>G ENST00000252576.5 + 1 190 c.190A>G c.(190-192)Atc>Gtc p.I64V NDUFA13_ENST00000507754.3_5'UTR NM_015965.6 NP_057049.5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 CGCCACACTCATCATGGCGGT 0.632000 4 43 0 0 0.150653 0 0 PIK3R1 5295 broad.mit.edu 37 5 67575530 67575530 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:67575530C>T ENST00000521381.1 + 5 1219 c.603C>T c.(601-603)gcC>gcT p.A201A PIK3R1_ENST00000396611.1_Silent_p.A201A|PIK3R1_ENST00000521657.1_Silent_p.A201A|PIK3R1_ENST00000274335.5_Silent_p.A201A NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 201 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTCCAGCAGCCGTTTACAGTG 0.433000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 43 58 0 0 0.870114 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270306 18270306 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:18270306G>C ENST00000377369.2 + 6 1263 c.990G>C c.(988-990)aaG>aaC p.K330N SLC39A12_ENST00000377374.4_Missense_Mutation_p.K330N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.K330N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.K196N NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 330 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TCATTTCTAAGGAGGACTTTA 0.488000 26 60 0 0 0.681144 0 0 FLRT2 23768 broad.mit.edu 37 14 86088015 86088015 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:86088015A>T ENST00000330753.4 + 2 924 c.157A>T c.(157-159)Agc>Tgc p.S53C FLRT2_ENST00000554746.1_Missense_Mutation_p.S53C NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 53 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAATGAGCGAAGCTTGACCTC 0.512000 41 73 0 0 0.859065 0 0 NRXN3 9369 broad.mit.edu 37 14 79175866 79175866 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:79175866G>C ENST00000554719.1 + 4 900 c.409G>C c.(409-411)Gtg>Ctg p.V137L RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.V137L NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 141 Laminin G-like. angiogenesis|cell adhesion integral to membrane p.V137M(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTTCTTTGCCGTGGAACTCCT 0.507000 27 73 0 0 0.681144 0 0 GTF3C1 2975 broad.mit.edu 37 16 27518169 27518169 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr16:27518169C>A ENST00000356183.4 - 9 1566 c.1552_splice c.e9+1 p.K517_splice GTF3C1_ENST00000561623.1_Splice_Site_p.K517_splice NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 517 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCTCCCTACCCTTGGTTGGGG 0.622000 4 3 8.12818e-05 8.82108e-05 0.248553 1 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986046 31986046 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr21:31986046C>T ENST00000329122.2 - 1 203 c.178G>A c.(178-180)Ggc>Agc p.G60S NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 60 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 CATCCATAGCCATAGCCACAG 0.562000 36 128 0 0 0.788014 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39479766 39479766 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:39479766C>A ENST00000407997.3 + 5 969 c.612C>A c.(610-612)ttC>ttA p.F204L APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.F204L NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) CATTCACTTTCAACTTTAACA 0.547000 31 41 4.31634e-10 5.21426e-10 0.760397 1 0 PTPN14 5784 broad.mit.edu 37 1 214557195 214557195 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:214557195C>G ENST00000366956.5 - 13 2197 c.2003G>C c.(2002-2004)cGc>cCc p.R668P PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 668 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GAGCGTGTTGCGGCGAGCCAT 0.647000 14 29 0 0 0.500413 0 0 OR4F15 390649 broad.mit.edu 37 15 102358657 102358657 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:102358657A>C ENST00000332238.4 + 1 292 c.268A>C c.(268-270)Aag>Cag p.K90Q NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CAAGAAGCACAAGGCCATCTC 0.453000 75 89 0 0 0.870114 0 0 C6orf222 389384 broad.mit.edu 37 6 36298043 36298043 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr6:36298043G>C ENST00000437635.2 - 2 602 c.425C>G c.(424-426)cCa>cGa p.P142R NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 142 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CCTGAGGGCTGGCTCCCCTGC 0.627000 40 62 0 0 0.827153 0 0 SPTBN5 51332 broad.mit.edu 37 15 42172497 42172497 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:42172497C>A ENST00000320955.6 - 14 2899 c.2672G>T c.(2671-2673)cGg>cTg p.R891L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 891 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTCCTCCAACCGGGCCCTGCG 0.667000 8 11 0.000673444 0.000719064 0.361761 1 0 GTSE1 51512 broad.mit.edu 37 22 46712020 46712020 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:46712020G>T ENST00000454366.1 + 7 1355 c.1143G>T c.(1141-1143)ctG>ctT p.L381L NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 362 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CCGCCATGCTGCGGCCAGCTC 0.592000 26 37 5.71845e-15 7.60164e-15 0.812448 1 0 DPP3 10072 broad.mit.edu 37 11 66264796 66264796 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:66264796C>T ENST00000532677.1 + 16 2184 c.1783C>T c.(1783-1785)Ctg>Ttg p.L595L DPP3_ENST00000453114.1_Silent_p.L576L|DPP3_ENST00000530165.1_Silent_p.L546L|DPP3_ENST00000541961.1_Silent_p.L576L|DPP3_ENST00000360510.2_Silent_p.L576L|DPP3_ENST00000531863.1_Silent_p.L596L NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 576 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GTTTGTGATCCTGAGAGTCTT 0.617000 18 40 0 0 0.539581 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149475 45149475 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:45149475T>A ENST00000458659.2 - 1 1226 c.736A>T c.(736-738)Agt>Tgt p.S246C TSC22D1_ENST00000501704.2_Missense_Mutation_p.S246C NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 246 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ATGGATGCACTGGCCACAGCA 0.517000 26 23 0 0 0.667858 0 0 LRP1B 53353 broad.mit.edu 37 2 141294160 141294160 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:141294160C>A ENST00000389484.3 - 46 8603 c.7632G>T c.(7630-7632)ctG>ctT p.L2544L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2544 LDL-receptor class A 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACAGTAGAGCAGTTTTTCAT 0.408000 TSP Lung(27;0.18) 51 65 4.86159e-25 7.15194e-25 0.870114 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215502 140215502 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:140215502G>T ENST00000525929.1 + 1 1534 c.1534G>T c.(1534-1536)Gcg>Tcg p.A512S PCDHA7_ENST00000378125.3_Missense_Mutation_p.A512S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCAGTGCACGCGGAGAGCGG 0.701000 76 96 3.83088e-25 5.6608e-25 0.870114 1 0 ZIC4 84107 broad.mit.edu 37 3 147108741 147108741 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:147108741C>G ENST00000383075.3 - 4 1493 c.981G>C c.(979-981)gcG>gcC p.A327A ZIC4_ENST00000484399.1_Silent_p.A327A|ZIC4_ENST00000525172.2_Silent_p.A377A|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.A327A|ZIC4_ENST00000491672.1_Silent_p.A121A|ZIC4_ENST00000425731.3_Silent_p.A365A NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 327 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CGGCGGTACGCGCCGCCACCG 0.701000 10 14 0 0 0.387290 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827131 43827131 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:43827131T>A ENST00000420765.1 - 31 4225 c.4043A>T c.(4042-4044)aAg>aTg p.K1348M PPIP5K1_ENST00000360301.4_Missense_Mutation_p.K1323M|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.K1321M|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.K1321M|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.K1348M|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.K1344M|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.K1324M|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.K1323M NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1348 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 large_intestine(1) 1 ATGGACCAGCTTGCCAACCTC 0.552000 66 50 0 0 0.870114 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811010 65811010 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:65811010C>A ENST00000312006.4 - 3 545 c.264G>T c.(262-264)gaG>gaT p.E88D GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E88D NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 88 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GGTTGTGGCGCTCGGCAAAGC 0.662000 4 20 0.150653 0.152031 0.150653 1 0 FURIN 5045 broad.mit.edu 37 15 91421523 91421523 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:91421523G>T ENST00000268171.3 + 8 1108 c.829G>T c.(829-831)Ggg>Tgg p.G277W NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 277 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTTCTTCCGTGGGGTTAGCCA 0.587000 17 14 5.26018e-13 6.69661e-13 0.608945 1 0 ATP11A 23250 broad.mit.edu 37 13 113536255 113536255 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:113536255A>T ENST00000375630.2 + 29 3541 c.3453A>T c.(3451-3453)acA>acT p.T1151T ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR NM_032189.3 NP_115565.3 P98196 AT11A_HUMAN ATPase, class VI, type 11A 0 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AGCAGGTGACACTCGCGGCCT 0.632000 27 46 0 0 0.693898 0 0 ZEB1 6935 broad.mit.edu 37 10 31810827 31810827 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:31810827A>C ENST00000446923.2 + 7 2907 c.2516A>C c.(2515-2517)gAa>gCa p.E839A ZEB1_ENST00000560721.2_Missense_Mutation_p.E835A|ZEB1_ENST00000320985.10_Missense_Mutation_p.E855A|ZEB1_ENST00000361642.5_Missense_Mutation_p.E856A|ZEB1_ENST00000542815.3_Missense_Mutation_p.E788A|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 855 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GCAGTCCAAGAACCACCCTTG 0.438000 26 52 0 0 0.706142 0 0 ITLN1 55600 broad.mit.edu 37 1 160849122 160849122 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:160849122G>T ENST00000326245.3 - 7 883 c.768C>A c.(766-768)gtC>gtA p.V256V ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 256 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACATCCGGTGACCCTCATTC 0.507000 46 88 8.72198e-27 1.30044e-26 0.870114 1 0 TTN 7273 broad.mit.edu 37 2 179584097 179584097 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:179584097C>A ENST00000589042.1 - 83 24244 c.24020G>T c.(24019-24021)cGa>cTa p.R8007L TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7690L|TTN_ENST00000342992.6_Missense_Mutation_p.R6763L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7690 Ig-like 62. 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) GCCAGAGACTCGGCACTCCAA 0.517000 31 95 1.08312e-15 1.47536e-15 0.740014 1 0 OR51D1 390038 broad.mit.edu 37 11 4661103 4661103 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:4661103G>A ENST00000357605.2 + 1 159 c.83G>A c.(82-84)gGt>gAt p.G28D NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTTTGGTGGGTATCCCTGGC 0.512000 63 68 0 0 0.870114 0 0 DCLK3 85443 broad.mit.edu 37 3 36779060 36779060 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:36779060T>C ENST00000416516.2 - 2 1581 c.1091A>G c.(1090-1092)gAt>gGt p.D364G NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 364 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 AAAGTTCCCATCCCCAATGAC 0.577000 19 56 0 0 0.592651 0 0 ZNF536 9745 broad.mit.edu 37 19 31040381 31040381 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:31040381C>T ENST00000355537.3 + 4 4002 c.3855C>T c.(3853-3855)agC>agT p.S1285S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TTGCAAGTAGCACAGCAAATT 0.493000 41 59 0 0 0.840704 0 0 RYR2 6262 broad.mit.edu 37 1 237947838 237947838 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:237947838G>T ENST00000366574.2 + 90 13143 c.12826G>T c.(12826-12828)Gtg>Ttg p.V4276L RYR2_ENST00000542537.1_Missense_Mutation_p.V4260L|RYR2_ENST00000360064.6_Missense_Mutation_p.V4282L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4276 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.V4274L(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) AAAGATGACCGTGAAGGACAT 0.468000 23 26 1.96895e-08 2.27875e-08 0.639603 1 0 CPXM1 56265 broad.mit.edu 37 20 2774857 2774857 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr20:2774857C>A ENST00000380605.2 - 14 2248 c.2184G>T c.(2182-2184)cgG>cgT p.R728R NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 728 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GTCCCCTTAGCCGCTCCAGGC 0.612000 29 69 2.08457e-15 2.79349e-15 0.750413 1 0 PAIP1 10605 broad.mit.edu 37 5 43537010 43537010 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:43537010T>A ENST00000306846.3 - 6 1115 c.883A>T c.(883-885)Att>Ttt p.I295F PAIP1_ENST00000436644.2_Missense_Mutation_p.I216F|PAIP1_ENST00000514514.1_Missense_Mutation_p.I216F|PAIP1_ENST00000338972.4_Missense_Mutation_p.I183F NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 295 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) ACCTGAAGAATATCTGCTCTT 0.338000 6 65 0 0 0.248553 0 0 PMF1 11243 broad.mit.edu 37 1 156203520 156203520 + Splice_Site SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:156203520G>T ENST00000368277.3 + 3 377 c.e3+1 PMF1_ENST00000368279.3_Splice_Site|PMF1_ENST00000368273.4_Splice_Site|PMF1-BGLAP_ENST00000368276.4_Splice_Site|PMF1-BGLAP_ENST00000490491.1_Splice_Site|PMF1-BGLAP_ENST00000320139.5_Splice_Site|PMF1_ENST00000567140.1_Splice_Site|PMF1_ENST00000565805.1_Splice_Site NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) AGCCAGCCTGGTGAGAGTGGG 0.468000 52 87 1.30916e-28 1.96078e-28 0.870114 1 0 IL2 3558 broad.mit.edu 37 4 123377319 123377319 + Nonsense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:123377319T>A ENST00000226730.4 - 2 471 c.187A>T c.(187-189)Aag>Tag p.K63* NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 63 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) ATGTAAAACTTAAATGTGAGC 0.284000 T TNFRSF17 intestinal T-cell lymphoma 15 41 0 0 0.479597 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 76 0 0 0.150653 0 0 SNX7 51375 broad.mit.edu 37 1 99203889 99203889 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:99203889G>T ENST00000306121.3 + 8 1231 c.1222G>T c.(1222-1224)Gat>Tat p.D408Y SNX7_ENST00000370189.5_Intron|SNX7_ENST00000529992.1_Missense_Mutation_p.D353Y NM_015976.4 NP_057060.2 Q9UNH6 SNX7_HUMAN sorting nexin 7 344 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TATGCAAAATGATATCAAGTT 0.338000 25 79 4.87955e-14 6.35879e-14 0.693898 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55065640 55065640 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:55065640G>T ENST00000526016.1 - 0 68 NR_038174.2 AAACAGGGCCGGCAAAAGCTG 0.493000 25 51 3.08376e-08 3.55653e-08 0.654019 1 0 SLC12A7 10723 broad.mit.edu 37 5 1064054 1064054 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:1064054C>A ENST00000264930.5 - 20 2687 c.2644G>T c.(2644-2646)Gcc>Tcc p.A882S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 882 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCACCTGGGCCACGGTGAAG 0.627000 23 40 4.16121e-05 4.5608e-05 0.639603 1 0 NUP98 4928 broad.mit.edu 37 11 3714511 3714511 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:3714511G>T ENST00000324932.7 - 27 4682 c.4262C>A c.(4261-4263)cCa>cAa p.P1421Q NUP98_ENST00000359171.4_Missense_Mutation_p.P1421Q|NUP98_ENST00000355260.3_Missense_Mutation_p.P1421Q NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1438 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GGAGGCTGTTGGTGGAAGCAA 0.463000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 50 115 7.77372e-23 1.13854e-22 0.870114 1 0 PTPRD 5789 broad.mit.edu 37 9 8340442 8340442 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr9:8340442C>A ENST00000381196.4 - 39 5697 c.5154G>T c.(5152-5154)caG>caT p.Q1718H PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1311H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1308H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1705H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1312H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1311H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1696H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1718H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1718H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1311H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1308H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1718 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCAAGGGCCCCTGGGTAGCGA 0.458000 TSP Lung(15;0.13) 25 22 0.00047179 0.000508672 0.654019 1 0 KIF21A 55605 broad.mit.edu 37 12 39734815 39734815 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr12:39734815T>A ENST00000395670.3 - 15 2422 c.2003A>T c.(2002-2004)cAg>cTg p.Q668L KIF21A_ENST00000544797.2_Missense_Mutation_p.Q655L|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q655L|KIF21A_ENST00000361418.5_Missense_Mutation_p.Q668L|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q655L Q7Z4S6 KI21A_HUMAN kinesin family member 21A 668 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CAGTCTTTTCTGGCTGTTTTC 0.363000 14 12 0 0 0.457914 0 0 ANKRD55 79722 broad.mit.edu 37 5 55472081 55472081 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:55472081A>G ENST00000341048.4 - 4 361 c.210T>C c.(208-210)tcT>tcC p.S70S ANKRD55_ENST00000504958.2_Silent_p.S70S|ANKRD55_ENST00000513241.2_Silent_p.S41S NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 69 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CTTGACGTCCAGAAACCGCAT 0.493000 42 108 0 0 0.853193 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881780 108881780 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:108881780C>A ENST00000329106.2 + 7 888 c.888C>A c.(886-888)agC>agA p.S296R NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 296 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 TGGCAGGAAGCACCCTAACCT 0.463000 18 43 9.16793e-09 1.07229e-08 0.520397 1 0 SLC18A2 6571 broad.mit.edu 37 10 119013583 119013583 + Missense_Mutation SNP C C A rs11568719 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:119013583C>A ENST00000298472.5 + 5 691 c.548C>A c.(547-549)gCc>gAc p.A183D SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 183 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGCAGCTATGCCTTCCTGCTG 0.592000 66 103 2.02627e-32 3.17865e-32 0.870114 1 0 PRDM9 56979 broad.mit.edu 37 5 23527869 23527869 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:23527869G>T ENST00000296682.3 + 11 2854 c.2672G>T c.(2671-2673)aGg>aTg p.R891M NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 891 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TACGTCTGCAGGGAGGATGAG 0.522000 HNSCC(3;0.000094) 17 47 7.05477e-17 9.64929e-17 0.520397 1 0 ZNF607 84775 broad.mit.edu 37 19 38189117 38189117 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:38189117G>T ENST00000355202.4 - 5 2510 c.1915C>A c.(1915-1917)Cat>Aat p.H639N ZNF607_ENST00000395835.3_Missense_Mutation_p.H638N|CTD-2528L19.4_ENST00000586606.2_Intron NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CCATCAGCATGAACGCTTTCA 0.378000 61 67 1.45723e-30 2.23307e-30 0.870114 1 0 RYR2 6262 broad.mit.edu 37 1 237880547 237880547 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:237880547G>C ENST00000366574.2 + 72 10690 c.10373G>C c.(10372-10374)cGg>cCg p.R3458P RYR2_ENST00000542537.1_Missense_Mutation_p.R3442P|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3458 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.R3456L(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) AAAGGAGATCGGTATTCCATG 0.493000 19 12 0 0 0.608945 0 0 FHOD3 80206 broad.mit.edu 37 18 34320650 34320650 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:34320650A>T ENST00000257209.4 + 18 3205 c.3083A>T c.(3082-3084)gAg>gTg p.E1028V FHOD3_ENST00000445677.1_Missense_Mutation_p.E990V|FHOD3_ENST00000592128.1_Missense_Mutation_p.E7V|FHOD3_ENST00000591635.1_Missense_Mutation_p.E224V|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1203V|FHOD3_ENST00000359247.4_Missense_Mutation_p.E1011V NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1011 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ACCGATGAGGAGAAGCAGAAA 0.488000 17 27 0 0 0.500413 0 0 ATP11A 23250 broad.mit.edu 37 13 113439475 113439475 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:113439475C>T ENST00000487903.1 + 2 154 c.66C>T c.(64-66)gaC>gaT p.D22D ATP11A_ENST00000375630.2_Silent_p.D22D|ATP11A_ENST00000375645.3_Silent_p.D22D|ATP11A_ENST00000283558.8_Silent_p.D22D P98196 AT11A_HUMAN ATPase, class VI, type 11A 22 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ATTGGGTGGACAGCAGGACCA 0.567000 OREG0003855 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 42 73 0 0 0.827153 0 0 STAT3 6774 broad.mit.edu 37 17 40475303 40475303 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:40475303A>G ENST00000264657.5 - 19 2035 c.1723T>C c.(1723-1725)Tac>Cac p.Y575H STAT3_ENST00000389272.3_Missense_Mutation_p.Y477H|STAT3_ENST00000404395.3_Missense_Mutation_p.Y575H|STAT3_ENST00000585517.1_Missense_Mutation_p.Y575H|STAT3_ENST00000588969.1_Missense_Mutation_p.Y575H NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 575 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GCCAGGATGTACTTTTTCACA 0.517000 Hyperimmunoglobulin E Recurrent Infection Syndrome OREG0024421 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 112 0 0 0.150653 0 0 AKAP8 10270 broad.mit.edu 37 19 15484083 15484083 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:15484083C>A ENST00000269701.2 - 5 500 c.440G>T c.(439-441)cGc>cTc p.R147L NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 147 signal transduction nuclear matrix p.R147H(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 GTAGCTGGGGCGGTAGGGGTT 0.642000 29 20 1.88708e-17 2.62447e-17 0.729181 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140870351 140870351 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:140870351G>T ENST00000252087.1 + 1 1544 c.1544G>T c.(1543-1545)cGg>cTg p.R515L PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 515 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGATGGACGGATCTTTGCC 0.547000 36 99 5.71845e-15 7.60164e-15 0.812448 1 0 AKAP1 8165 broad.mit.edu 37 17 55195744 55195744 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:55195744G>A ENST00000337714.3 + 9 2736 c.2503G>A c.(2503-2505)Gat>Aat p.D835N AKAP1_ENST00000571629.1_Missense_Mutation_p.D835N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D835N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D835N NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 835 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TCCTGAAGACGATGACCAGTT 0.532000 37 39 0 0 0.840704 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92647611 92647611 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:92647611T>G ENST00000318445.6 + 4 1062 c.848T>G c.(847-849)tTt>tGt p.F283C SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.F283C NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 283 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CTCTTGATGTTTGGGTTTCCA 0.597000 36 102 0 0 0.779181 0 0 OR51A7 119687 broad.mit.edu 37 11 4929367 4929367 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:4929367C>A ENST00000359350.4 + 1 768 c.768C>A c.(766-768)acC>acA p.T256T MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCATCACCCTGGCTGCCA 0.493000 90 113 1.13762e-57 1.84585e-57 0.870114 1 0 ADAM2 2515 broad.mit.edu 37 8 39624758 39624758 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:39624758T>A ENST00000265708.4 - 13 1328 c.1225A>T c.(1225-1227)Att>Ttt p.I409F ADAM2_ENST00000379853.2_Missense_Mutation_p.I283F|ADAM2_ENST00000347580.4_Missense_Mutation_p.I390F|ADAM2_ENST00000521880.1_Missense_Mutation_p.I409F NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 409 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GTTTCTCCAATAAGGGCACAA 0.378000 65 100 0 0 0.870114 0 0 IRF9 10379 broad.mit.edu 37 14 24624848 24624848 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:24624848G>C ENST00000558468.1 + 6 865 c.865G>C c.(865-867)Gag>Cag p.E289Q RNF31_ENST00000559275.1_Missense_Mutation_p.E663Q|RNF31_ENST00000382687.3_Missense_Mutation_p.E663Q|RNF31_ENST00000324103.6_Missense_Mutation_p.E814Q TGAGCAGCTGGAGGCAACTTG 0.532000 33 78 0 0 0.760397 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 5 0.00621372 0.00644746 0.335167 1 0 INSL5 10022 broad.mit.edu 37 1 67263744 67263744 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:67263744C>A ENST00000304526.2 - 2 394 c.360G>T c.(358-360)ttG>ttT p.L120F NM_005478.4 NP_005469.2 Q9Y5Q6 INSL5_HUMAN insulin-like 5 120 extracellular region hormone activity breast(2)|endometrium(1)|lung(5) 8 CAGTGCAACACAAAGTTTGTA 0.443000 13 58 1.05317e-09 1.245e-09 0.457914 1 0 SYNE1 23345 broad.mit.edu 37 6 152473247 152473247 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr6:152473247C>G ENST00000367255.5 - 134 24760 c.24159G>C c.(24157-24159)ctG>ctC p.L8053L SYNE1_ENST00000448038.1_Silent_p.L7982L|SYNE1_ENST00000265368.4_Silent_p.L8053L|SYNE1_ENST00000539504.1_Silent_p.L208L|SYNE1_ENST00000423061.1_Silent_p.L7982L|SYNE1_ENST00000341594.5_Silent_p.L7665L|SYNE1_ENST00000354674.4_Silent_p.L208L|SYNE1_ENST00000356820.4_Silent_p.L2577L|SYNE1_ENST00000347037.5_5'UTR NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8053 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCAGCTGCGTCAGGCACTCGT 0.542000 HNSCC(10;0.0054) 24 43 0 0 0.681144 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561641 145561641 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:145561641A>G ENST00000355594.4 + 10 1416 c.1329A>G c.(1327-1329)caA>caG p.Q443Q NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 443 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGGACAGCAACTGACTACCA 0.557000 18 95 0 0 0.539581 0 0 TTN 7273 broad.mit.edu 37 2 179396045 179396045 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:179396045A>T ENST00000589042.1 - 358 105521 c.105297T>A c.(105295-105297)tcT>tcA p.S35099S TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Silent_p.S26159S|TTN_ENST00000460472.2_Silent_p.S26034S|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Silent_p.S26226S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Silent_p.S33458S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.S32531S|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33458 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) CTGCAGATGCAGAGTGTTCAT 0.408000 61 70 0 0 0.870114 0 0 TRPM3 80036 broad.mit.edu 37 9 73151003 73151003 + Missense_Mutation SNP G G A rs41287375 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr9:73151003G>A ENST00000377110.2 - 25 5233 c.4990C>T c.(4990-4992)Cgg>Tgg p.R1664W TRPM3_ENST00000377106.1_Missense_Mutation_p.R1536W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1668W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1523W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1526W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1691W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1523W|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1513W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1526W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1523W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1536W NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1689 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GCTGTGTTCCGCTGCCTGTCG 0.577000 133 74 0 0 0.870114 0 0 ZNF835 90485 broad.mit.edu 37 19 57176448 57176448 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:57176448A>T ENST00000537055.2 - 2 350 c.119T>A c.(118-120)gTg>gAg p.V40E NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CTTGCAGGCCACGGCCTCTGG 0.597000 22 14 0 0 0.624587 0 0 UPP1 7378 broad.mit.edu 37 7 48141551 48141551 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:48141551A>G ENST00000331803.4 + 6 916 c.293A>G c.(292-294)tAt>tGt p.Y98C UPP1_ENST00000341253.4_Missense_Mutation_p.Y98C|UPP1_ENST00000395564.4_Missense_Mutation_p.Y98C|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000482015.1_Intron Q16831 UPP1_HUMAN uridine phosphorylase 1 98 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 TATGCCATGTATAAAGTAGGA 0.562000 39 44 0 0 0.853193 0 0 SYT8 90019 broad.mit.edu 37 11 1858580 1858580 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:1858580C>T ENST00000341958.3 + 8 1385 c.1083C>T c.(1081-1083)ccC>ccT p.P361P SYT8_ENST00000381968.3_Silent_p.P375P|SYT8_ENST00000535046.1_3'UTR Q8NBV8 SYT8_HUMAN synaptotagmin VIII 375 acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCGGCACCCCCTGCGGCCAG 0.726000 4 11 0 0 0.150653 0 0 LDB3 11155 broad.mit.edu 37 10 88441336 88441336 + Silent SNP C C T rs45516997 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:88441336C>T ENST00000429277.2 + 5 610 c.465C>T c.(463-465)ctC>ctT p.L155L LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000361373.4_Silent_p.L155L|LDB3_ENST00000310944.6_Silent_p.L155L|LDB3_ENST00000372056.4_Silent_p.L155L|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_Silent_p.L155L NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 155 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TCTCCTCACTCGCCGAGGCCT 0.736000 3 42 0 0 0.115264 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681338 44681338 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:44681338G>T ENST00000381176.4 - 4 701 c.569C>A c.(568-570)cCg>cAg p.P190Q NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 190 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GGTCATCAGCGGTGGGCTGTG 0.617000 24 70 3.73988e-18 5.31288e-18 0.706142 1 0 ATR 545 broad.mit.edu 37 3 142272808 142272808 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:142272808T>A ENST00000350721.4 - 11 2512 c.2391A>T c.(2389-2391)gaA>gaT p.E797D ATR_ENST00000383101.3_Missense_Mutation_p.E733D NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 797 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTGTTTCATCTTCTCTAAAAT 0.308000 Other conserved DNA damage response genes 9 27 0 0 0.307466 0 0 SNORD114-1 767577 broad.mit.edu 37 14 101416185 101416185 + RNA SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:101416185G>A ENST00000362705.1 + 0 16 NR_003193.1 CTATGATGATGACTGGTGGCG 0.353000 15 30 0 0 0.457914 0 0 PRSS1 5644 broad.mit.edu 37 7 142458515 142458515 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:142458515C>T ENST00000486171.1 + 2 167 c.150C>T c.(148-150)ggC>ggT p.G50G PRSS1_ENST00000311737.7_Silent_p.G50G P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 50 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCTGTGGTGGCTCCCTCATCA 0.562000 7 147 0 0 0.248553 0 0 SLC9A1 6548 broad.mit.edu 37 1 27480730 27480730 + Silent SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:27480730G>C ENST00000263980.3 - 1 671 c.96C>G c.(94-96)ctC>ctG p.L32L SLC9A1_ENST00000374086.3_Silent_p.L32L|SLC9A1_ENST00000545949.1_5'UTR NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 32 regulation of pH integral to membrane sodium:hydrogen antiporter activity 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) CATGGCTCCTGAGAACAGGCA 0.607000 17 73 0 0 0.520397 0 0 ZNF16 7564 broad.mit.edu 37 8 146156251 146156251 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:146156251C>T ENST00000276816.4 - 4 2108 c.1922G>A c.(1921-1923)cGt>cAt p.R641H ZNF16_ENST00000394909.2_Missense_Mutation_p.R641H NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GAGGACCGAACGCTGACTGAA 0.537000 49 69 0 0 0.870114 0 0 PAX3 5077 broad.mit.edu 37 2 223160317 223160317 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:223160317G>T ENST00000350526.4 - 3 517 c.381C>A c.(379-381)ggC>ggA p.G127G PAX3_ENST00000344493.4_Silent_p.G127G|PAX3_ENST00000258387.5_Silent_p.G127G|PAX3_ENST00000392070.2_Silent_p.G127G|PAX3_ENST00000409828.3_Silent_p.G127G|PAX3_ENST00000409551.3_Silent_p.G126G|PAX3_ENST00000392069.2_Silent_p.G127G|PAX3_ENST00000336840.6_Silent_p.G127G NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 127 Paired. apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGAACATGCCCGGGTTCT 0.542000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 17 58 3.32936e-07 3.77403e-07 0.539581 1 0 RBL2 5934 broad.mit.edu 37 16 53515618 53515618 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr16:53515618A>T ENST00000262133.6 + 21 3257 c.3120A>T c.(3118-3120)gtA>gtT p.V1040V RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1040 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 ATCCATTTGTAAGAACAGGCT 0.333000 12 21 0 0 0.411799 0 0 ESPNP 284729 broad.mit.edu 37 1 17033809 17033809 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:17033809G>T ENST00000492551.1 - 0 669 NR_026567.1 CGCAGGCAGTGGGTGCAGTGG 0.662000 4 33 0.000602214 0.000645091 0.184627 1 0 STON2 85439 broad.mit.edu 37 14 81743750 81743750 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:81743750G>T ENST00000555447.1 - 6 2317 c.1905C>A c.(1903-1905)acC>acA p.T635T STON2_ENST00000267540.2_Silent_p.T635T NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 635 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACTTTGTGGTGGTGGTGGGCA 0.517000 19 19 3.32936e-07 3.77403e-07 0.539581 1 0 HPSE2 60495 broad.mit.edu 37 10 100374727 100374727 + Silent SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:100374727C>G ENST00000370552.3 - 9 1313 c.1254G>C c.(1252-1254)gtG>gtC p.V418V HPSE2_ENST00000404542.1_Silent_p.V306V|HPSE2_ENST00000370549.1_Silent_p.V360V|HPSE2_ENST00000370546.1_Silent_p.V418V NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 418 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) AGTGCCGTATCACGACATCAA 0.388000 53 113 0 0 0.870114 0 0 TPTE 7179 broad.mit.edu 37 21 10942750 10942750 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr21:10942750T>A ENST00000298232.7 - 12 1004 c.637A>T c.(637-639)Aca>Tca p.T213S TPTE_ENST00000361285.4_Missense_Mutation_p.T231S|TPTE_ENST00000342420.5_Missense_Mutation_p.T193S|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 231 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) CCATCCCTTGTGTATCGCCTT 0.313000 76 437 0 0 0.870114 0 0 KRT6A 3853 broad.mit.edu 37 12 52885323 52885323 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr12:52885323C>T ENST00000330722.6 - 2 806 c.738G>A c.(736-738)gtG>gtA p.V246V NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 246 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TGAAGTCCTCCACCAGGTCCT 0.542000 42 43 0 0 0.834066 0 0 C1orf173 127254 broad.mit.edu 37 1 75065541 75065541 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:75065541G>C ENST00000326665.5 - 11 1782 c.1564C>G c.(1564-1566)Caa>Gaa p.Q522E C1orf173_ENST00000420661.2_Missense_Mutation_p.Q325E|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 522 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCATTCATTTGAACATCAGCC 0.383000 33 140 0 0 0.779181 0 0 CSMD1 64478 broad.mit.edu 37 8 3263580 3263580 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:3263580C>A ENST00000602557.1 - 16 2793 c.2238G>T c.(2236-2238)gtG>gtT p.V746V CSMD1_ENST00000400186.3_Silent_p.V746V|CSMD1_ENST00000539096.1_Silent_p.V745V|CSMD1_ENST00000537824.1_Silent_p.V745V|CSMD1_ENST00000602723.1_Silent_p.V746V|CSMD1_ENST00000520002.1_Silent_p.V746V|CSMD1_ENST00000542608.1_Silent_p.V745V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 746 Sushi 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCTCCAGACCACGTTCCCGT 0.547000 13 28 6.53275e-17 8.97237e-17 0.457914 1 0 HMCN1 83872 broad.mit.edu 37 1 185932971 185932971 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:185932971G>T ENST00000271588.4 + 13 2271 c.2042G>T c.(2041-2043)tGc>tTc p.C681F HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.C681F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 681 Ig-like C2-type 3. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATCTATGGTTGCCTAGCAAGT 0.328000 57 86 1.45723e-30 2.23307e-30 0.870114 1 0 RBM46 166863 broad.mit.edu 37 4 155720682 155720682 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:155720682G>A ENST00000510397.1 + 4 1547 c.1368G>A c.(1366-1368)aaG>aaA p.K456K RBM46_ENST00000281722.3_Silent_p.K456K|RBM46_ENST00000514866.1_Silent_p.K456K NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 456 nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) AAGATGCAAAGGAACTGGCAG 0.323000 3 18 0 0 0.150653 0 0 RYR2 6262 broad.mit.edu 37 1 237880546 237880546 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:237880546C>T ENST00000366574.2 + 72 10689 c.10372C>T c.(10372-10374)Cgg>Tgg p.R3458W RYR2_ENST00000542537.1_Missense_Mutation_p.R3442W|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456W NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3458 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 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) CAAAGGAGATCGGTATTCCAT 0.493000 19 12 0 0 0.608945 0 0 NAA25 80018 broad.mit.edu 37 12 112516501 112516501 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr12:112516501C>A ENST00000261745.4 - 6 770 c.522G>T c.(520-522)ctG>ctT p.L174L NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 174 cytoplasm protein binding p.L174L(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 CAGCAAGGGGCAGAAACATTG 0.368000 55 42 7.37877e-41 1.18562e-40 0.870114 1 0 TONSL 4796 broad.mit.edu 37 8 145661513 145661513 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:145661513C>T ENST00000409379.3 - 17 2332 c.2303G>A c.(2302-2304)cGg>cAg p.R768Q AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 768 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GGCTGCCACCCGTTGTGCTGT 0.711000 4 9 0 0 0.217242 0 0 KLHL1 57626 broad.mit.edu 37 13 70535565 70535565 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:70535565C>T ENST00000377844.4 - 3 1451 c.692G>A c.(691-693)aGt>aAt p.S231N KLHL1_ENST00000545028.1_Missense_Mutation_p.S38N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 231 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGAGACTGAACTCAGAACAAG 0.438000 31 41 0 0 0.769981 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72434578 72434578 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:72434578C>T ENST00000373208.1 + 2 349 c.349C>T c.(349-351)Ctg>Ttg p.L117L ADAMTS14_ENST00000373207.1_Silent_p.L117L NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 117 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CGGGAAGGAACTGCACTTGCG 0.637000 18 23 0 0 0.539581 0 0 MGA 23269 broad.mit.edu 37 15 42058514 42058514 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:42058514A>T ENST00000219905.7 + 24 8415 c.8234A>T c.(8233-8235)aAa>aTa p.K2745I MGA_ENST00000545763.1_Missense_Mutation_p.K2536I|MGA_ENST00000566586.1_Missense_Mutation_p.K2536I|MGA_ENST00000570161.1_Missense_Mutation_p.K2745I|MGA_ENST00000389936.4_Missense_Mutation_p.K2706I NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2706 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTCTTACCTAAAAAGATTTCT 0.378000 13 10 0 0 0.457914 0 0 FUT11 170384 broad.mit.edu 37 10 75532234 75532234 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:75532234G>T ENST00000372841.3 + 1 186 c.143G>T c.(142-144)cGg>cTg p.R48L FUT11_ENST00000394790.1_Missense_Mutation_p.R48L|AC022400.2_ENST00000595757.1_Silent_p.R49R NM_173540.2 NP_775811.2 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 48 protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 Prostate(51;0.0112) GCGGTTTTCCGGCCGCCCTCG 0.741000 3 21 0.115264 0.117032 0.115264 1 0 PTCHD4 442213 broad.mit.edu 37 6 47846599 47846599 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr6:47846599C>G ENST00000339488.4 - 3 2014 c.1981G>C c.(1981-1983)Gtt>Ctt p.V661L NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 661 integral to membrane hedgehog receptor activity GCAATCAGAACAGGCACTGTG 0.483000 45 79 0 0 0.859065 0 0 CHRNA3 1136 broad.mit.edu 37 15 78909405 78909405 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:78909405G>A ENST00000326828.5 - 4 722 c.338C>T c.(337-339)gCa>gTa p.A113V CHRNA3_ENST00000348639.3_Missense_Mutation_p.A113V NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 113 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GATCTTCTGTGCAGGGACACG 0.562000 13 11 0 0 0.479597 0 0 CASP3 836 broad.mit.edu 37 4 185553059 185553059 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:185553059C>A ENST00000308394.4 - 6 605 c.343G>T c.(343-345)Gtt>Ttt p.V115F CASP3_ENST00000393588.4_Missense_Mutation_p.V115F|CASP3_ENST00000517513.1_Missense_Mutation_p.V115F|CASP3_ENST00000523916.1_Missense_Mutation_p.V115F|CASP3_ENST00000393585.2_Missense_Mutation_p.V115F NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 115 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) AGCACACAAACAAAACTGCTC 0.338000 38 73 6.48837e-15 8.5906e-15 0.853193 1 0 PRKACG 5568 broad.mit.edu 37 9 71628335 71628335 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr9:71628335A>G ENST00000377276.2 - 1 704 c.674T>C c.(673-675)cTa>cCa p.L225P NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 225 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GAGCACCCCTAGGGCCCACCA 0.612000 25 23 0 0 0.654019 0 0 FBLN1 2192 broad.mit.edu 37 22 45960816 45960816 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:45960816G>A ENST00000348697.2 + 15 1897 c.1750G>A c.(1750-1752)Gac>Aac p.D584N FBLN1_ENST00000442170.2_Missense_Mutation_p.D584N|FBLN1_ENST00000327858.6_Intron P23142 FBLN1_HUMAN fibulin 1 580 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AAGTAAAGAGGACTGCAGGGT 0.537000 16 22 0 0 0.500413 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156917973 156917973 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:156917973C>A ENST00000368194.3 - 24 3192 c.2153_splice c.e24+1 p.R718_splice ARHGEF11_ENST00000361409.2_Splice_Site_p.R678_splice|ARHGEF11_ENST00000315174.8_Splice_Site_p.R94_splice NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 678 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATCACTTACCTGCGGCCCAT 0.587000 13 33 4.36969e-10 5.25952e-10 0.435327 1 0 BPI 671 broad.mit.edu 37 20 36935979 36935979 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr20:36935979G>A ENST00000262865.4 + 2 242 c.153G>A c.(151-153)caG>caA p.Q51Q CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 51 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 kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) CCAGCCAGCAGGGGACGGCCG 0.592000 36 82 0 0 0.804634 0 0 SLC5A3 6526 broad.mit.edu 37 21 35469090 35469090 + Silent SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr21:35469090T>A ENST00000381151.3 + 2 2105 c.1593T>A c.(1591-1593)ctT>ctA p.L531L MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 531 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TTGTGAGCCTTCTCACACCAC 0.468000 26 32 0 0 0.693898 0 0 OBSL1 23363 broad.mit.edu 37 2 220432677 220432677 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:220432677G>A ENST00000404537.1 - 3 1353 c.1297C>T c.(1297-1299)Cgc>Tgc p.R433C OBSL1_ENST00000603926.1_Missense_Mutation_p.R433C|OBSL1_ENST00000373873.4_Missense_Mutation_p.R433C|OBSL1_ENST00000373876.1_Missense_Mutation_p.R433C|OBSL1_ENST00000265318.4_Missense_Mutation_p.R433C|OBSL1_ENST00000289656.3_Missense_Mutation_p.R20C NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 433 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGGGGCAGGCGCTTCAGGATG 0.637000 10 35 0 0 0.335167 0 0 DDX25 29118 broad.mit.edu 37 11 125778353 125778353 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:125778353G>A ENST00000263576.6 + 6 617 c.462G>A c.(460-462)gtG>gtA p.V154V RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 154 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) CGGCATTTGTGTTGGCAATGT 0.463000 68 95 0 0 0.870114 0 0 DDX42 11325 broad.mit.edu 37 17 61895427 61895427 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:61895427G>A ENST00000578681.1 + 19 3087 c.2486G>A c.(2485-2487)aGc>aAc p.S829N DDX42_ENST00000457800.2_Missense_Mutation_p.S829N|DDX42_ENST00000359353.5_Missense_Mutation_p.S710N|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.S829N|DDX42_ENST00000583590.1_Missense_Mutation_p.S829N NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 829 Gly-rich.|His-rich.|Necessary for interaction with TP53BP2. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.S829I(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 AATCGGCATAGCGATAGTCCA 0.587000 20 52 0 0 0.592651 0 0 TFDP1 7027 broad.mit.edu 37 13 114288852 114288852 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:114288852G>T ENST00000375370.5 + 8 834 c.622G>T c.(622-624)Gaa>Taa p.E208* TFDP1_ENST00000544902.1_Nonsense_Mutation_p.E113*|TFDP1_ENST00000538138.1_Nonsense_Mutation_p.E113* NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 208 Dimerization (Potential). cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.E208*(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) TTTGAAGGTGGAAAGACAGAG 0.398000 TSP Lung(29;0.18) 30 56 3.99451e-17 5.50909e-17 0.740014 1 0 OR5AC2 81050 broad.mit.edu 37 3 97806880 97806880 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:97806880C>G ENST00000358642.2 + 1 864 c.864C>G c.(862-864)aaC>aaG p.N288K NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CCCTGCTAAACCCATTTATTT 0.358000 13 35 0 0 0.435327 0 0 MUC5B 727897 broad.mit.edu 37 11 1267214 1267214 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:1267214C>T ENST00000447027.1 + 31 9171 c.9113C>T c.(9112-9114)aCc>aTc p.T3038I RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3035I Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3035 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCACAGCCACCAGTTCCAAA 0.612000 63 110 0 0 0.870114 0 0 CDC42EP1 11135 broad.mit.edu 37 22 37964340 37964340 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:37964340A>C ENST00000249014.4 + 3 1109 c.689A>C c.(688-690)aAc>aCc p.N230T NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 230 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 endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) CCCGCTGCAAACCCCCCAGCC 0.672000 4 38 0 0 0.184627 0 0 SDK1 221935 broad.mit.edu 37 7 3991439 3991439 + Missense_Mutation SNP G G A rs138596298 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:3991439G>A ENST00000404826.2 + 7 1176 c.1037G>A c.(1036-1038)cGc>cAc p.R346H SDK1_ENST00000389531.3_Missense_Mutation_p.R346H NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 346 Ig-like C2-type 3. R -> H (in Ref. 1; AAP75619 and 2; BAB71066). cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTTGGAAGACGCCTCACCATC 0.617000 9 81 0 0 0.307466 0 0 DIP2A 23181 broad.mit.edu 37 21 47970476 47970476 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr21:47970476G>T ENST00000318711.7 + 23 2844 c.2661G>T c.(2659-2661)caG>caT p.Q887H DIP2A_ENST00000427143.2_Missense_Mutation_p.Q822H|DIP2A_ENST00000417564.2_Missense_Mutation_p.Q886H|DIP2A_ENST00000400274.1_Missense_Mutation_p.Q882H NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 886 multicellular organismal development nucleus catalytic activity|transcription factor binding p.Q886H(1)|p.Q822H(1)|p.Q887H(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCATCCACCAGGTGGGCGTGT 0.582000 15 14 1.37285e-15 1.86235e-15 0.500413 1 0 TFAP2C 7022 broad.mit.edu 37 20 55206867 55206867 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr20:55206867G>T ENST00000201031.2 + 3 784 c.541G>T c.(541-543)Gac>Tac p.D181Y TFAP2C_ENST00000544508.1_Missense_Mutation_p.D12Y NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 181 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) CCAGAATGTCGACGACCAGCA 0.557000 27 47 4.59853e-10 5.5149e-10 0.693898 1 0 TBC1D21 161514 broad.mit.edu 37 15 74178467 74178467 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:74178467C>A ENST00000300504.2 + 7 711 c.628C>A c.(628-630)Ctc>Atc p.L210I TBC1D21_ENST00000535547.2_Missense_Mutation_p.L174I|TBC1D21_ENST00000562056.1_Missense_Mutation_p.L173I NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 210 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 CCTAGACATGCTCAGCACCCT 0.592000 26 36 9.39395e-14 1.21461e-13 0.706142 1 0 PPP2R5B 5526 broad.mit.edu 37 11 64694309 64694309 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:64694309G>A ENST00000164133.2 + 3 947 c.325G>A c.(325-327)Gag>Aag p.E109K NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 109 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 AGCCCTCAACGAGCTGGTGGA 0.642000 14 67 0 0 0.479597 0 0 LMBRD2 92255 broad.mit.edu 37 5 36122394 36122394 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:36122394T>A ENST00000296603.4 - 9 1570 c.1108A>T c.(1108-1110)Aat>Tat p.N370Y NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 370 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATGTAGGATTATAAAAATAT 0.294000 17 27 0 0 0.557998 0 0 NHLRC2 374354 broad.mit.edu 37 10 115636548 115636548 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:115636548C>T ENST00000369301.3 + 3 812 c.600C>T c.(598-600)gaC>gaT p.D200D NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 200 Thioredoxin. cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) ATTACAAAGACAGGGGGCAGA 0.343000 23 39 0 0 0.624587 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904874 144904874 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chrX:144904874C>A ENST00000370490.1 + 1 5186 c.931C>A c.(931-933)Cca>Aca p.P311T SLITRK2_ENST00000434188.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P311T Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 311 integral to membrane p.P311A(1) 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) GAGAAATCGTCCAACTCCTCG 0.552000 35 16 1.414e-09 1.6656e-09 0.788014 1 0 IL7R 3575 broad.mit.edu 37 5 35876359 35876359 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:35876359C>A ENST00000303115.3 + 8 1280 c.1151C>A c.(1150-1152)tCt>tAt p.S384Y IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 384 S -> P (in Ref. 7; AAH67537). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.S384F(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATTCTCTCCTCTTCCAGGTCC 0.542000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 31 38 1.56442e-22 2.28116e-22 0.760397 1 0 SEZ6L 23544 broad.mit.edu 37 22 26747058 26747058 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:26747058C>A ENST00000529632.2 + 12 2644 c.2448C>A c.(2446-2448)acC>acA p.T816T SEZ6L_ENST00000343706.4_Silent_p.T816T|SEZ6L_ENST00000411842.2_Silent_p.T13T|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000248933.6_Silent_p.T816T|SEZ6L_ENST00000404234.3_Silent_p.T816T|SEZ6L_ENST00000402979.1_Silent_p.T589T|SEZ6L_ENST00000403121.1_Silent_p.T589T NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 816 Sushi 4. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ATCACTCGACCCGCTTAATTT 0.542000 28 48 7.26314e-15 9.57809e-15 0.717897 1 0 TRPV5 56302 broad.mit.edu 37 7 142626165 142626165 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:142626165G>C ENST00000265310.1 - 5 886 c.538C>G c.(538-540)Cgg>Ggg p.R180G TRPV5_ENST00000442623.1_Missense_Mutation_p.R180G NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 180 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ATGAGCAGCCGCACGATCTCC 0.612000 17 14 0 0 0.557998 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929036 32929036 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:32929036A>G ENST00000361627.3 + 12 2784 c.2062A>G c.(2062-2064)Ata>Gta p.I688V ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I499V|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I499V NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 688 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.I688V(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) AGAAACAACTATAAAATGTTA 0.323000 12 28 0 0 0.387290 0 0 PTPRD 5789 broad.mit.edu 37 9 8484231 8484231 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr9:8484231C>A ENST00000381196.4 - 27 3844 c.3301G>T c.(3301-3303)Gca>Tca p.A1101S PTPRD_ENST00000397606.3_Missense_Mutation_p.A680S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A687S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1079S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1088S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A680S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A690S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A690S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1101S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1101S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A687S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1101 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCAGTCTTTGCCGTGACCCTG 0.473000 TSP Lung(15;0.13) 43 38 6.5261e-18 9.19209e-18 0.840704 1 0 MARS2 92935 broad.mit.edu 37 2 198570930 198570930 + Silent SNP G G T rs144114997 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:198570930G>T ENST00000282276.6 + 1 844 c.801G>T c.(799-801)ccG>ccT p.P267P AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 267 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) GGGGCATTCCGGTGCCCGGGG 0.547000 31 52 2.61193e-14 3.43075e-14 0.740014 1 0 RQCD1 9125 broad.mit.edu 37 2 219452361 219452361 + Silent SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:219452361A>C ENST00000273064.6 + 5 858 c.483A>C c.(481-483)acA>acC p.T161T RQCD1_ENST00000542068.1_Silent_p.T161T|RQCD1_ENST00000509807.2_Silent_p.T193T|RQCD1_ENST00000295701.5_Silent_p.T161T NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 161 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TATTAACAACAGAAATTATCC 0.303000 9 17 0 0 0.335167 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683151 50683151 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr6:50683151C>T ENST00000008391.3 + 2 590 c.362C>T c.(361-363)gCg>gTg p.A121V NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 121 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AATGCGCGGGCGCTCAAGTCG 0.607000 59 86 0 0 0.870114 0 0 ELN 2006 broad.mit.edu 37 7 73467602 73467602 + Silent SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:73467602T>A ENST00000252034.7 + 18 1458 c.1059T>A c.(1057-1059)gtT>gtA p.V353V ELN_ENST00000358929.4_Silent_p.V353V|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380562.4_Silent_p.V353V|ELN_ENST00000320399.6_Silent_p.V353V|ELN_ENST00000357036.5_Silent_p.V358V|ELN_ENST00000380553.4_Silent_p.V236V|ELN_ENST00000458204.1_Silent_p.V343V|ELN_ENST00000445912.1_Silent_p.V353V|ELN_ENST00000429192.1_Silent_p.V358V|ELN_ENST00000380576.5_Silent_p.V353V|ELN_ENST00000414324.1_Silent_p.V348V|ELN_ENST00000380584.4_Silent_p.V339V|ELN_ENST00000320492.7_Silent_p.V317V|ELN_ENST00000380575.4_Silent_p.V343V NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 353 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGATTCCAGTTGTCCCAGGTG 0.587000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 43 24 0 0 0.840704 0 0 KREMEN2 79412 broad.mit.edu 37 16 3014592 3014592 + Nonsense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr16:3014592C>A ENST00000572045.1 + 1 376 c.71C>A c.(70-72)tCg>tAg p.S24* KREMEN2_ENST00000319500.6_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000575769.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000575885.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000571007.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000303746.5_Nonsense_Mutation_p.S24* NM_172229.2 NP_757384.1 Q8NCW0 KREM2_HUMAN kringle containing transmembrane protein 2 24 Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 CGTGGGGCCTCGGCTGGGAGC 0.687000 9 34 0.00621372 0.00644746 0.335167 1 0 DNAH9 1770 broad.mit.edu 37 17 11865532 11865532 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:11865532A>G ENST00000262442.3 + 68 13260 c.13192A>G c.(13192-13194)Atc>Gtc p.I4398V DNAH9_ENST00000396001.2_Missense_Mutation_p.I710V|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.I4322V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4398 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) AGGGGCCTACATCCATGGCCT 0.517000 33 29 0 0 0.769981 0 0 BMPER 168667 broad.mit.edu 37 7 34085918 34085918 + Splice_Site SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:34085918G>T ENST00000297161.2 + 8 951 c.576_splice c.e8-1 p.G193_splice BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Splice_Site_p.G193_splice NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 193 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CTTTTCTTAGGGAGGCAGGAC 0.438000 34 116 1.22384e-17 1.70924e-17 0.769981 1 0 KCTD16 57528 broad.mit.edu 37 5 143587020 143587020 + Missense_Mutation SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:143587020T>G ENST00000507359.2 + 2 1834 c.743T>G c.(742-744)gTg>gGg p.V248G KCTD16_ENST00000512467.1_Missense_Mutation_p.V248G NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 248 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TTCCACATGGTGGCCTGTAAC 0.428000 71 77 0 0 0.870114 0 0 FBN2 2201 broad.mit.edu 37 5 127782228 127782228 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:127782228C>G ENST00000508053.1 - 13 1872 c.898G>C c.(898-900)Gaa>Caa p.E300Q FBN2_ENST00000262464.4_Missense_Mutation_p.E300Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E267Q P35556 FBN2_HUMAN fibrillin 2 300 EGF-like 4; 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) CATCTGCATTCAAAAGAGCCC 0.428000 38 67 0 0 0.812448 0 0 GPR112 139378 broad.mit.edu 37 X 135431752 135431752 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chrX:135431752G>T ENST00000394143.1 + 6 6178 c.5887G>T c.(5887-5889)Gct>Tct p.A1963S GPR112_ENST00000370652.1_Missense_Mutation_p.A1963S|GPR112_ENST00000412101.1_Missense_Mutation_p.A1758S|GPR112_ENST00000287534.4_Missense_Mutation_p.A1900S|GPR112_ENST00000394141.1_Missense_Mutation_p.A1758S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1963 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCTTTAAGAGCTATCACTTC 0.418000 33 15 2.08457e-15 2.79349e-15 0.750413 1 0 SUCO 51430 broad.mit.edu 37 1 172579150 172579150 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:172579150G>C ENST00000367723.3 + 23 4096 c.3972G>C c.(3970-3972)caG>caC p.Q1324H SUCO_ENST00000263688.3_Missense_Mutation_p.Q1172H NM_016227.2 NP_057311.2 SUN domain containing ossification factor CTTCATCACAGTCAGAAGAGT 0.403000 21 139 0 0 0.624587 0 0 DUSP27 92235 broad.mit.edu 37 1 167097826 167097826 + Missense_Mutation SNP A A C rs111745868 byFrequency TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:167097826A>C ENST00000361200.2 + 6 3624 c.3458A>C c.(3457-3459)cAg>cCg p.Q1153P DUSP27_ENST00000443333.1_Missense_Mutation_p.Q1153P|DUSP27_ENST00000271385.5_Missense_Mutation_p.Q1153P|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1153 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 ACCAAGCTGCAGAAAAGGAGG 0.527000 13 27 0 0 0.479597 0 0 SLC12A5 57468 broad.mit.edu 37 20 44682333 44682333 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr20:44682333C>A ENST00000454036.1 + 20 2809 c.2733C>A c.(2731-2733)gtC>gtA p.V911V SLC12A5_ENST00000243964.3_Silent_p.V888V NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 911 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGCGGAGGTCGAGGTGGTGG 0.542000 51 100 1.0442e-30 1.61509e-30 0.870114 1 0 POTEC 388468 broad.mit.edu 37 18 14542890 14542890 + Missense_Mutation SNP G G C rs45469098 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:14542890G>C ENST00000358970.5 - 1 255 c.256C>G c.(256-258)Cat>Gat p.H86D POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 86 H -> D (in dbSNP:rs45469098). NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAGTTGTCATGGTCTCCAGAA 0.592000 8 280 0 0 0.278610 0 0 KEAP1 9817 broad.mit.edu 37 19 10602746 10602746 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:10602746G>A ENST00000171111.5 - 3 1379 c.832C>T c.(832-834)Ccg>Tcg p.P278S KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.P278S NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 278 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AGGAAGTTCGGCGTCAACGAG 0.612000 35 20 0 0 0.788014 0 0 SNRPD3 6634 broad.mit.edu 37 22 24964111 24964111 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:24964111G>C ENST00000215829.3 + 3 873 c.286G>C c.(286-288)Ggc>Cgc p.G96R SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96R NM_001278656.1|NM_004175.3 NP_001265585.1|NP_004166.1 P62318 SMD3_HUMAN small nuclear ribonucleoprotein D3 polypeptide 18kDa 96 Arg/Lys-rich (basic). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding p.G96C(1)|p.G96S(1) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 CTCAGGGGCTGGCCGAGGAAA 0.458000 26 38 0 0 0.693898 0 0 SPRY2 10253 broad.mit.edu 37 13 80911269 80911269 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:80911269T>A ENST00000377102.1 - 2 1549 c.572A>T c.(571-573)tAc>tTc p.Y191F SPRY2_ENST00000540649.1_Missense_Mutation_p.Y191F|SPRY2_ENST00000377104.3_Missense_Mutation_p.Y191F O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 191 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) AGGCCTTGGGTAGGTGCACTC 0.537000 32 48 0 0 0.729181 0 0 SGOL2 151246 broad.mit.edu 37 2 201436615 201436615 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:201436615G>C ENST00000357799.4 + 7 1644 c.1546G>C c.(1546-1548)Gag>Cag p.E516Q NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 516 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ATTTCACCAGGAGAGTAAATT 0.313000 49 51 0 0 0.870114 0 0 PRC1 9055 broad.mit.edu 37 15 91512795 91512795 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:91512795G>A ENST00000361188.5 - 13 2842 c.1631C>T c.(1630-1632)gCc>gTc p.A544V PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.A503V|PRC1_ENST00000361919.3_Missense_Mutation_p.A544V|PRC1_ENST00000394249.3_Missense_Mutation_p.A544V|PRC1-AS1_ENST00000556200.1_RNA O43663 PRC1_HUMAN protein regulator of cytokinesis 1 544 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) CTCCTTGTTGGCTCCATGCCT 0.552000 28 83 0 0 0.729181 0 0 MCM4 4173 broad.mit.edu 37 8 48883348 48883348 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:48883348G>T ENST00000262105.2 + 11 1921 c.1712G>T c.(1711-1713)tGc>tTc p.C571F MCM4_ENST00000523944.1_Missense_Mutation_p.C571F NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 571 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) AACGGCATCTGCTGTATCGAT 0.498000 18 34 1.67942e-08 1.95048e-08 0.539581 1 0 BRINP3 339479 broad.mit.edu 37 1 190067402 190067402 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:190067402G>T ENST00000367462.3 - 8 2278 c.2047C>A c.(2047-2049)Ctg>Atg p.L683M FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L581M NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 683 extracellular region p.L683M(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGCAAAATCAGGTCCCGAATT 0.463000 58 84 1.93748e-29 2.94177e-29 0.870114 1 0 TSLP 85480 broad.mit.edu 37 5 110407631 110407631 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:110407631A>T ENST00000420978.2 + 2 1465 c.43A>T c.(43-45)Agg>Tgg p.R15W TSLP_ENST00000344895.3_Missense_Mutation_p.R15W Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 15 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) AGTTTCTTTCAGGAAAATCTT 0.408000 51 67 0 0 0.870114 0 0 TBX2 6909 broad.mit.edu 37 17 59483009 59483009 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:59483009C>A ENST00000240328.3 + 6 1779 c.1498C>A c.(1498-1500)Cct>Act p.P500T RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 500 Gly-rich. cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 CACCATGGGCCCTGGCGCCTT 0.716000 4 3 0.184627 0.185187 0.184627 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720243 140720243 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:140720243A>T ENST00000394576.2 + 1 1705 c.1705A>T c.(1705-1707)Aca>Tca p.T569S PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 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) TGCCTTCCCCACAGACGGTTC 0.637000 100 153 0 0 0.870114 0 0 PMS2 5395 broad.mit.edu 37 7 6029588 6029588 + Splice_Site SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:6029588T>C ENST00000265849.7 - 10 1094 c.e10-2 PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CAACGCATTCTAAGGCAAAAA 0.313000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 18 17 0 0 0.520397 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331207 100331207 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:100331207G>T ENST00000341853.1 - 0 2984 NR_003260.1 TGGGCTTGGAGCATTAAGGCC 0.562000 43 117 1.19451e-25 1.77302e-25 0.870114 1 0 OR5M3 219482 broad.mit.edu 37 11 56237637 56237637 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:56237637G>C ENST00000312240.2 - 1 377 c.337C>G c.(337-339)Ctt>Gtt p.L113V NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) ATCGCAGCAAGAATAAAAATT 0.373000 43 90 0 0 0.847076 0 0 COL6A6 131873 broad.mit.edu 37 3 130284398 130284398 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:130284398C>A ENST00000358511.6 + 3 1253 c.1222C>A c.(1222-1224)Cgg>Agg p.R408R COL6A6_ENST00000453409.2_Silent_p.R408R NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 408 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen p.R408W(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GAAGAAGCTGCGGAACCAAAT 0.463000 8 13 5.18039e-06 5.75406e-06 0.278610 1 0 CCDC39 339829 broad.mit.edu 37 3 180372601 180372601 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:180372601A>T ENST00000273654.4 - 13 1750 c.1131T>A c.(1129-1131)tgT>tgA p.C377* CCDC39_ENST00000442201.2_Nonsense_Mutation_p.C293* Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 293 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATGCCGTTCTACATTTTAAAA 0.358000 13 20 0 0 0.457914 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174248 150174248 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:150174248G>T ENST00000307271.3 + 5 1952 c.1378G>T c.(1378-1380)Ggg>Tgg p.G460W NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 460 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding p.G460W(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CTCTATCCTGGGGAGCCTCGT 0.592000 20 48 6.44725e-10 7.70412e-10 0.624587 1 0 LOC645166 645166 broad.mit.edu 37 1 148932838 148932838 + RNA SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:148932838G>A ENST00000539543.1 + 0 94 NR_027355.1 GAGCTGCCCAGCATGGCTGCA 0.607000 47 205 0 0 0.870114 0 0 SALL1 6299 broad.mit.edu 37 16 51173592 51173592 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr16:51173592G>A ENST00000440970.1 - 2 2681 c.2250C>T c.(2248-2250)tcC>tcT p.S750S SALL1_ENST00000251020.4_Silent_p.S847S|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 847 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGCTGTCTTGGGAGGCGTCTG 0.488000 66 64 0 0 0.870114 0 0 LAMA3 3909 broad.mit.edu 37 18 21461922 21461922 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:21461922G>T ENST00000313654.9 + 40 5376 c.5135G>T c.(5134-5136)gGa>gTa p.G1712V LAMA3_ENST00000399516.3_Missense_Mutation_p.G1712V|LAMA3_ENST00000269217.6_Missense_Mutation_p.G103V|LAMA3_ENST00000587184.1_Missense_Mutation_p.G103V NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1712 Domain III A.|Laminin EGF-like 13. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACACCGCGGGAGAGCACTGT 0.547000 10 20 1.08611e-07 1.24395e-07 0.387290 1 0 TRPM6 140803 broad.mit.edu 37 9 77436629 77436629 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr9:77436629C>A ENST00000451710.3 - 8 1203 c.966G>T c.(964-966)gcG>gcT p.A322A TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.A317A|TRPM6_ENST00000376864.4_Silent_p.A322A|TRPM6_ENST00000376871.3_Silent_p.A322A|TRPM6_ENST00000376872.3_Silent_p.A322A|TRPM6_ENST00000361255.3_Silent_p.A317A|TRPM6_ENST00000360774.1_Silent_p.A322A Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 322 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGAGGTCAGCCGCCCTACCTG 0.542000 32 22 1.62565e-12 2.04597e-12 0.760397 1 0 RNASE3 6037 broad.mit.edu 37 14 21360027 21360027 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:21360027G>A ENST00000304639.3 + 2 240 c.182G>A c.(181-183)cGa>cAa p.R61Q NM_002935.2 NP_002926.2 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 61 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) AACAATTATCGATGGCGTTGC 0.443000 26 25 0 0 0.667858 0 0 SLIT3 6586 broad.mit.edu 37 5 168671714 168671714 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:168671714C>A ENST00000519560.1 - 3 755 c.336G>T c.(334-336)gaG>gaT p.E112D SLIT3_ENST00000332966.8_Missense_Mutation_p.E112D|SLIT3_ENST00000404867.3_Missense_Mutation_p.E112D|SLIT3_ENST00000521130.1_5'UTR NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 112 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 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) CTTACAGTCGCTCTAGCTGCT 0.413000 21 28 0.00152264 0.0016102 0.592651 1 0 PTPRG 5793 broad.mit.edu 37 3 62063885 62063885 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:62063885G>A ENST00000474889.1 + 5 945 c.568G>A c.(568-570)Gca>Aca p.A190T PTPRG_ENST00000295874.10_Missense_Mutation_p.A190T NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 190 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CTTTCAAACCGCAATTTCTGA 0.294000 17 37 0 0 0.557998 0 0 TRPC6 7225 broad.mit.edu 37 11 101375429 101375429 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:101375429G>A ENST00000344327.3 - 2 695 c.271C>T c.(271-273)Cgc>Tgc p.R91C TRPC6_ENST00000532133.1_Missense_Mutation_p.R91C|TRPC6_ENST00000348423.4_Missense_Mutation_p.R91C|TRPC6_ENST00000360497.4_Missense_Mutation_p.R91C NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 91 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CTTGTGGAGCGATCACTAAAC 0.507000 32 111 0 0 0.796494 0 0 RASIP1 54922 broad.mit.edu 37 19 49224080 49224080 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:49224080C>T ENST00000222145.4 - 12 3071 c.2867G>A c.(2866-2868)gGg>gAg p.G956E NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 956 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CACGGGAGGCCCATGGCGATA 0.612000 95 44 0 0 0.870114 0 0 HTR1E 3354 broad.mit.edu 37 6 87725995 87725995 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr6:87725995G>T ENST00000305344.4 + 2 1646 c.943G>T c.(943-945)Ggt>Tgt p.G315C HTR1E_ENST00000369584.1_Missense_Mutation_p.G315C NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 315 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GTTGATTGTGGGTCTGAGCAT 0.498000 71 55 7.46257e-40 1.19329e-39 0.870114 1 0 PDS5B 23047 broad.mit.edu 37 13 33247430 33247430 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:33247430G>A ENST00000315596.10 + 8 969 c.783G>A c.(781-783)gaG>gaA p.E261E NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 261 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TAATTTTGGAGCTCTACAATA 0.338000 27 54 0 0 0.706142 0 0 GDF2 2658 broad.mit.edu 37 10 48413967 48413967 + Missense_Mutation SNP C C G rs41314469 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:48413967C>G ENST00000249598.1 - 2 1060 c.901G>C c.(901-903)Gag>Cag p.E301Q NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 301 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GTGTCCTCCTCGTGACTGCTC 0.622000 29 47 0 0 0.729181 0 0 OR2L13 284521 broad.mit.edu 37 1 248263312 248263312 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:248263312G>T ENST00000366478.2 + 3 972 c.635G>T c.(634-636)gGc>gTc p.G212V OR2L13_ENST00000358120.2_Missense_Mutation_p.G212V NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.G212D(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTTTCATTGGCATCACTTCT 0.428000 35 74 2.42023e-17 3.35187e-17 0.779181 1 0 SMTNL1 219537 broad.mit.edu 37 11 57317484 57317484 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:57317484G>A ENST00000457912.1 + 8 1438 c.1438G>A c.(1438-1440)Gtg>Atg p.V480M SMTNL1_ENST00000527972.1_Missense_Mutation_p.V462M|SMTNL1_ENST00000399154.2_Missense_Mutation_p.V425M E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 462 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GGATGACATGGTGCGGTTGGC 0.537000 12 27 0 0 0.411799 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270307 18270307 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:18270307G>T ENST00000377369.2 + 6 1264 c.991G>T c.(991-993)Gag>Tag p.E331* SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.E331*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.E331*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.E197* NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 331 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CATTTCTAAGGAGGACTTTAA 0.483000 24 59 1.64293e-13 2.116e-13 0.654019 1 0 ASS1 445 broad.mit.edu 37 9 133333920 133333920 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr9:133333920G>C ENST00000372394.1 + 5 788 c.307G>C c.(307-309)Gtg>Ctg p.V103L ASS1_ENST00000372393.3_Missense_Mutation_p.V103L|ASS1_ENST00000352480.5_Missense_Mutation_p.V103L P00966 ASSY_HUMAN argininosuccinate synthase 1 103 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) CCGCAAACAAGTGGAAATCGC 0.652000 3 55 0 0 0.115264 0 0 OR6N1 128372 broad.mit.edu 37 1 158736044 158736044 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:158736044C>T ENST00000335094.2 - 1 448 c.429G>A c.(427-429)gaG>gaA p.E143E NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) CAATGGCAATCTCTGCACAAA 0.537000 12 34 0 0 0.411799 0 0 WIPF1 7456 broad.mit.edu 37 2 175437061 175437061 + Silent SNP T T G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:175437061T>G ENST00000392547.2 - 5 571 c.472A>C c.(472-474)Aga>Cga p.R158R WIPF1_ENST00000359761.3_Silent_p.R158R|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Silent_p.R158R|WIPF1_ENST00000272746.5_Silent_p.R158R|WIPF1_ENST00000409891.1_Silent_p.R158R|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.R158R NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 158 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GGACCACTTCTGTGGCCTGGA 0.602000 18 64 0 0 0.539581 0 0 NPY4R 5540 broad.mit.edu 37 10 47087797 47087797 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:47087797G>T ENST00000374312.1 + 3 1433 c.1014G>T c.(1012-1014)ctG>ctT p.L338L NPY4R_ENST00000395716.1_Silent_p.L338L NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CCCTGGTGCTGACTTGCCAGC 0.567000 21 83 5.26018e-13 6.69661e-13 0.608945 1 0 STK11 6794 broad.mit.edu 37 19 1221261 1221261 + Nonsense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:1221261A>T ENST00000326873.7 + 6 1957 c.784A>T c.(784-786)Aag>Tag p.K262* NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 262 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAACATCTACAAGTTGTTTGA 0.582000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 12 4 0 0 0.435327 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 59 0 0 0.248553 0 0 DRD2 1813 broad.mit.edu 37 11 113295259 113295259 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:113295259T>A ENST00000362072.3 - 2 459 c.115A>T c.(115-117)Aca>Tca p.T39S DRD2_ENST00000346454.3_Missense_Mutation_p.T39S|DRD2_ENST00000355319.2_Missense_Mutation_p.T39S|DRD2_ENST00000538967.1_Missense_Mutation_p.T39S|DRD2_ENST00000544518.1_Missense_Mutation_p.T39S|DRD2_ENST00000542968.1_Missense_Mutation_p.T39S NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 39 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GTGAGCAGTGTGGCATAGTAG 0.587000 30 54 0 0 0.740014 0 0 MTUS2 23281 broad.mit.edu 37 13 30062124 30062124 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:30062124C>A ENST00000431530.3 + 9 3575 c.3517C>A c.(3517-3519)Cac>Aac p.H1173N MTUS2_ENST00000380808.2_Missense_Mutation_p.H142N|MTUS2_ENST00000542829.1_Missense_Mutation_p.H52N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 1163 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GCAGGATGACCACGACCACAA 0.577000 23 63 1.33986e-20 1.94515e-20 0.681144 1 0 PCDH18 54510 broad.mit.edu 37 4 138442835 138442835 + Missense_Mutation SNP G G T rs139751813 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:138442835G>T ENST00000344876.4 - 4 3142 c.2756C>A c.(2755-2757)aCg>aAg p.T919K PCDH18_ENST00000511115.1_Missense_Mutation_p.T99K|PCDH18_ENST00000507846.1_Missense_Mutation_p.T698K|PCDH18_ENST00000412923.2_Missense_Mutation_p.T918K|PCDH18_ENST00000510305.1_Missense_Mutation_p.T130K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 919 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GCACTCCTCCGTGCAGAGTCT 0.433000 67 71 3.00472e-47 4.85153e-47 0.870114 1 0 WNT7A 7476 broad.mit.edu 37 3 13860915 13860915 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:13860915C>T ENST00000285018.4 - 4 880 c.576G>A c.(574-576)ctG>ctA p.L192L NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 192 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TGTTCTCCTCCAGGATCTGCA 0.657000 19 56 0 0 0.575678 0 0 FAM46D 169966 broad.mit.edu 37 X 79699185 79699185 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chrX:79699185C>T ENST00000538312.1 + 5 1481 c.1147C>T c.(1147-1149)Cgt>Tgt p.R383C FAM46D_ENST00000308293.5_Missense_Mutation_p.R383C NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 383 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ACTGCACTTTCGTGGATCAAA 0.403000 15 6 0 0 0.557998 0 0 RP1L1 94137 broad.mit.edu 37 8 10467346 10467346 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:10467346G>T ENST00000382483.3 - 4 4485 c.4262C>A c.(4261-4263)tCc>tAc p.S1421Y NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1421 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ATCTTCCTGGGAGCCTTTCCC 0.607000 166 362 2.05284e-59 3.34724e-59 0.870114 1 0 GALNT15 117248 broad.mit.edu 37 3 16237266 16237266 + Splice_Site SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:16237266G>A ENST00000339732.5 + 2 1042 c.e2-1 GALNT15_ENST00000437509.1_Splice_Site NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CTTCCCTGCAGGTGTCTGCAG 0.597000 10 33 0 0 0.361761 0 0 GLT8D2 83468 broad.mit.edu 37 12 104393232 104393232 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr12:104393232C>T ENST00000360814.4 - 6 750 c.345G>A c.(343-345)ccG>ccA p.P115P GLT8D2_ENST00000546436.1_Silent_p.P115P|GLT8D2_ENST00000548660.1_Silent_p.P115P NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 115 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TGAGGACCATCGGGTTGAATT 0.438000 66 43 0 0 0.870114 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331208 100331208 + RNA SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:100331208C>A ENST00000341853.1 - 0 2983 NR_003260.1 GGGCTTGGAGCATTAAGGCCA 0.567000 43 117 4.64027e-19 6.64904e-19 0.870114 1 0 SOCS6 9306 broad.mit.edu 37 18 67992908 67992908 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:67992908A>T ENST00000397942.3 + 2 1320 c.1004A>T c.(1003-1005)cAc>cTc p.H335L SOCS6_ENST00000582322.1_Missense_Mutation_p.H335L NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 335 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) ACAGAAGCCCACGTGGCTGAA 0.488000 13 42 0 0 0.435327 0 0 BOC 91653 broad.mit.edu 37 3 112993230 112993230 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:112993230C>A ENST00000495514.1 + 9 1947 c.1243C>A c.(1243-1245)Cca>Aca p.P415T BOC_ENST00000273395.4_Missense_Mutation_p.P415T|BOC_ENST00000355385.3_Missense_Mutation_p.P415T Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 415 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) AGGCATAACCCCAAGGCTATG 0.552000 22 62 5.35356e-11 6.56307e-11 0.639603 1 0 TAS2R60 338398 broad.mit.edu 37 7 143140732 143140732 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:143140732G>T ENST00000332690.1 + 1 187 c.187G>T c.(187-189)Ggg>Tgg p.G63W EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 63 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) GGTTAGCCTAGGGGCCTCTCG 0.498000 63 61 1.53122e-18 2.18463e-18 0.870114 1 0 SRSF2 6427 broad.mit.edu 37 17 74732914 74732914 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:74732914T>C ENST00000392485.2 - 1 501 c.329A>G c.(328-330)tAc>tGc p.Y110C MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Intron|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Missense_Mutation_p.Y110C NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 110 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 ACCGCCCCCGTACCTGCGGGG 0.786000 Mis """MDS, CLL""" 9 22 0 0 0.335167 0 0 FBXO15 201456 broad.mit.edu 37 18 71793305 71793305 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:71793305T>A ENST00000269500.5 - 6 924 c.589A>T c.(589-591)Aat>Tat p.N197Y FBXO15_ENST00000419743.2_Missense_Mutation_p.N273Y NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 197 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TGACTCAGATTGTACTTTGCA 0.463000 27 93 0 0 0.729181 0 0 GPR148 344561 broad.mit.edu 37 2 131486911 131486911 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:131486911A>T ENST00000309926.4 + 1 269 c.187A>T c.(187-189)Aca>Tca p.T63S NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 63 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) GGCTGCAGCCACACTGGCTGT 0.632000 32 36 0 0 0.760397 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761847 77761847 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:77761847C>T ENST00000521891.2 + 8 4193 c.3745C>T c.(3745-3747)Cct>Tct p.P1249S ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1223S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1204S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1204S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1204 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATCTGCTGTCCTCTCTGTCA 0.488000 HNSCC(33;0.089) 10 66 0 0 0.335167 0 0 UBBP4 23666 broad.mit.edu 37 17 21731316 21731316 + Silent SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:21731316A>T ENST00000584755.1 + 2 1015 c.618A>T c.(616-618)gtA>gtT p.V206V UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AGATGGCGGTACTCTTTCTGA 0.517000 49 52 0 0 0.870114 0 0 TVP23C 201158 broad.mit.edu 37 17 15406338 15406338 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:15406338G>A ENST00000225576.3 - 6 766 c.671C>T c.(670-672)cCa>cTa p.P224L TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron NM_145301.2 NP_660344.2 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) ACGAAGAGGTGGAGAACTAAG 0.587000 16 49 0 0 0.479597 0 0 GBP4 115361 broad.mit.edu 37 1 89662846 89662846 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:89662846A>G ENST00000355754.6 - 2 279 c.182T>C c.(181-183)cTa>cCa p.L61P NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 61 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) TGTGCGGTATAGCCCTACAAT 0.478000 27 35 0 0 0.693898 0 0 DCDC1 341019 broad.mit.edu 37 11 31312227 31312227 + Missense_Mutation SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:31312227A>C ENST00000597505.1 - 5 926 c.927T>G c.(925-927)caT>caG p.H309Q DCDC1_ENST00000452803.1_Missense_Mutation_p.H309Q P59894 DCDC1_HUMAN doublecortin domain containing 1 309 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CTGTAATCTCATGCCCATCCT 0.348000 32 41 0 0 0.760397 0 0 CNTN5 53942 broad.mit.edu 37 11 99941210 99941210 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:99941210C>A ENST00000524871.1 + 11 1507 c.1217C>A c.(1216-1218)cCt>cAt p.P406H CNTN5_ENST00000527185.1_Missense_Mutation_p.P406H|CNTN5_ENST00000528682.1_Missense_Mutation_p.P406H|CNTN5_ENST00000279463.3_Missense_Mutation_p.P406H|CNTN5_ENST00000418526.2_Missense_Mutation_p.P332H NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 406 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGTGGGAGCCCTCTCCGATGG 0.458000 6 24 0.00116845 0.0012396 0.217242 1 0 SPTLC3 55304 broad.mit.edu 37 20 13055137 13055137 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr20:13055137A>T ENST00000399002.2 + 4 873 c.599A>T c.(598-600)cAt>cTt p.H200L SPTLC3_ENST00000378194.4_Missense_Mutation_p.H200L NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 200 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AGCACCAGGCATGAAATGGGT 0.423000 73 109 0 0 0.870114 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52389893 52389893 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:52389893G>T ENST00000443374.1 + 0 586 TGTATGCTGGGTCGTTTTCCT 0.403000 10 20 4.68919e-08 5.38931e-08 0.361761 1 0 OR4C12 283093 broad.mit.edu 37 11 50003155 50003155 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:50003155C>T ENST00000335238.4 - 1 916 c.883G>A c.(883-885)Gca>Aca p.A295T NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TTCCTTATTGCACTTTTTACC 0.368000 13 51 0 0 0.435327 0 0 AMDHD1 144193 broad.mit.edu 37 12 96350688 96350688 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr12:96350688G>A ENST00000266736.2 + 4 641 c.535G>A c.(535-537)Gag>Aag p.E179K NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 179 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 CGCCCGGCGGGAGCTGGACAT 0.602000 6 137 0 0 0.217242 0 0 LINC00922 283867 broad.mit.edu 37 16 65345315 65345315 + RNA SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr16:65345315A>T ENST00000569736.1 - 0 819 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 GGAGGTACTCACCTTCGTGAG 0.403000 30 73 0 0 0.760397 0 0 GRIK3 2899 broad.mit.edu 37 1 37307529 37307529 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:37307529G>A ENST00000373091.3 - 10 1354 c.1338C>T c.(1336-1338)ttC>ttT p.F446F GRIK3_ENST00000373093.4_Silent_p.F446F NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 446 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GAAACATGACGAAGGGCTCCT 0.577000 6 98 0 0 0.248553 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31727709 31727709 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr6:31727709C>A ENST00000493662.2 + 18 1749 c.1693C>A c.(1693-1695)Cgt>Agt p.R565S MSH5_ENST00000395853.1_Missense_Mutation_p.R222S|MSH5_ENST00000375703.3_Missense_Mutation_p.R548S|MSH5_ENST00000431848.2_Missense_Mutation_p.R247S|MSH5_ENST00000375755.3_Missense_Mutation_p.R548S|MSH5_ENST00000534153.4_Missense_Mutation_p.R565S|MSH5_ENST00000375742.3_Missense_Mutation_p.R565S|MSH5_ENST00000375750.3_Missense_Mutation_p.R548S|MSH5_ENST00000375740.3_Missense_Mutation_p.R565S CTCAAGGCCGCGTTACTCCCC 0.572000 34 59 4.31634e-10 5.21426e-10 0.760397 1 0 OR2L13 284521 broad.mit.edu 37 1 248263049 248263049 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:248263049C>A ENST00000366478.2 + 3 709 c.372C>A c.(370-372)gcC>gcA p.A124A OR2L13_ENST00000358120.2_Silent_p.A124A NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GTTATTTGGCCATCTGCCACT 0.502000 61 273 1.12357e-39 1.78799e-39 0.870114 1 0 PELI2 57161 broad.mit.edu 37 14 56746457 56746457 + Missense_Mutation SNP G G A rs151092148 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:56746457G>A ENST00000267460.4 + 3 557 c.271G>A c.(271-273)Gtg>Atg p.V91M NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 91 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 GACTGTGGTGGTGGAGTACAC 0.303000 38 63 0 0 0.853193 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473040 22473040 + RNA SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:22473040G>T ENST00000557788.2 - 0 230 GGTTGTAGTTGGGGCTCCCAC 0.582000 33 274 6.84511e-11 8.36064e-11 0.779181 1 0 INPP5J 27124 broad.mit.edu 37 22 31523954 31523954 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:31523954G>T ENST00000331075.5 + 7 1854 c.1805G>T c.(1804-1806)gGg>gTg p.G602V INPP5J_ENST00000405300.1_Missense_Mutation_p.G235V|INPP5J_ENST00000404453.1_5'UTR|INPP5J_ENST00000402238.1_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.G234V|INPP5J_ENST00000412277.2_Missense_Mutation_p.G535V|INPP5J_ENST00000401755.1_5'UTR|INPP5J_ENST00000400294.2_Missense_Mutation_p.G235V Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 602 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 TTCTGGTTCGGGGACCTGAAC 0.587000 12 28 4.3838e-07 4.9355e-07 0.435327 1 0 FAM86EP 348926 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 4 88 1.23904e-05 1.37165e-05 0.184627 1 0 C5orf20 140947 broad.mit.edu 37 5 134782574 134782574 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:134782574G>T ENST00000503143.2 - 1 464 c.225C>A c.(223-225)acC>acA p.T75T TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 75 T -> P (in dbSNP:rs1031844). nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGCTGGCAAGGTTTTGTTCC 0.602000 15 43 1.05317e-09 1.245e-09 0.457914 1 0 CETN1 1068 broad.mit.edu 37 18 580499 580499 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:580499C>A ENST00000327228.3 + 1 133 c.91C>A c.(91-93)Caa>Aaa p.Q31K NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 31 EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GGATCAGAAGCAAGAAGTTCG 0.597000 16 12 1.3612e-06 1.52216e-06 0.479597 1 0 RYR3 6263 broad.mit.edu 37 15 34145788 34145788 + Silent SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:34145788A>G ENST00000389232.4 + 96 13774 c.13704A>G c.(13702-13704)gcA>gcG p.A4568A RYR3_ENST00000415757.3_Silent_p.A4563A|RYR3_ENST00000559917.1_3'UTR NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4568 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCTACGGAGCAGAACGCATTG 0.488000 9 32 0 0 0.307466 0 0 SYNE2 23224 broad.mit.edu 37 14 64634322 64634322 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:64634322C>T ENST00000357395.3 + 93 17169 c.6025C>T c.(6025-6027)Ctt>Ttt p.L2009F SYNE2_ENST00000344113.4_Missense_Mutation_p.L5624F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2009F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5624F|SYNE2_ENST00000555002.1_Missense_Mutation_p.L2258F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5499F Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5624 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) GGCTAACAGCCTTCCTGAGCT 0.458000 18 44 0 0 0.539581 0 0 TRPC6 7225 broad.mit.edu 37 11 101375428 101375428 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:101375428C>G ENST00000344327.3 - 2 696 c.272G>C c.(271-273)cGc>cCc p.R91P TRPC6_ENST00000532133.1_Missense_Mutation_p.R91P|TRPC6_ENST00000348423.4_Missense_Mutation_p.R91P|TRPC6_ENST00000360497.4_Missense_Mutation_p.R91P NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 91 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GCTTGTGGAGCGATCACTAAA 0.507000 33 108 0 0 0.804634 0 0 LCT 3938 broad.mit.edu 37 2 136562352 136562352 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:136562352G>A ENST00000264162.2 - 10 4459 c.4449C>T c.(4447-4449)gcC>gcT p.A1483A NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1483 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCTGGATGCTGGCGGCCAGCA 0.562000 14 51 0 0 0.500413 0 0 CLPTM1 1209 broad.mit.edu 37 19 45488522 45488522 + Silent SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:45488522G>T ENST00000541297.2 + 6 1056 c.591G>T c.(589-591)ctG>ctT p.L197L CLPTM1_ENST00000546079.1_Silent_p.L109L|CLPTM1_ENST00000337392.5_Silent_p.L211L|CLPTM1_ENST00000589158.1_3'UTR O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 211 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CCAAGAACCTGCTGACAGGAG 0.542000 9 10 3.86212e-05 4.24705e-05 0.361761 1 0 GRM5 2915 broad.mit.edu 37 11 88338066 88338066 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:88338066T>C ENST00000418177.2 - 5 1581 c.1214A>G c.(1213-1215)tAt>tGt p.Y405C GRM5_ENST00000305432.5_Missense_Mutation_p.Y405C|GRM5_ENST00000305447.4_Missense_Mutation_p.Y405C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y405C|GRM5_ENST00000393297.1_Missense_Mutation_p.Y405C P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 405 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGCCATCGAATAGATGGCGTT 0.458000 12 59 0 0 0.387290 0 0 MVP 9961 broad.mit.edu 37 16 29848101 29848101 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr16:29848101G>T ENST00000357402.5 + 7 869 c.731G>T c.(730-732)cGc>cTc p.R244L MVP_ENST00000452209.2_Silent_p.P58P|MVP_ENST00000395353.1_Missense_Mutation_p.R244L NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 244 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GTGTCCCGCCGCACTGGGGAG 0.637000 21 29 1.22574e-08 1.42859e-08 0.624587 1 0 SCFD2 152579 broad.mit.edu 37 4 54231754 54231754 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:54231754G>C ENST00000401642.3 - 1 488 c.355C>G c.(355-357)Cca>Gca p.P119A SCFD2_ENST00000388940.4_Missense_Mutation_p.P119A NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 119 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) GCCGCCGCTGGGACATGATTA 0.597000 21 26 0 0 0.608945 0 0 SNX7 51375 broad.mit.edu 37 1 99156702 99156702 + Silent SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:99156702G>A ENST00000370189.5 + 4 607 c.243G>A c.(241-243)aaG>aaA p.K81K SNX7_ENST00000306121.3_Silent_p.K145K|SNX7_ENST00000529992.1_Silent_p.K145K Q9UNH6 SNX7_HUMAN sorting nexin 7 81 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TTTGGTTGAAGGGAAAACTGG 0.368000 11 30 0 0 0.361761 0 0 FAM171B 165215 broad.mit.edu 37 2 187627263 187627263 + Nonsense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:187627263C>T ENST00000304698.5 + 8 2397 c.2194C>T c.(2194-2196)Cag>Tag p.Q732* NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 732 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AAGCATGCATCAGCCCAAGAT 0.483000 5 85 0 0 0.184627 0 0 EIF2B3 8891 broad.mit.edu 37 1 45323445 45323445 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:45323445C>A ENST00000360403.2 - 11 1363 c.1237G>T c.(1237-1239)Gct>Tct p.A413S NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 413 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) TCGATCACAGCATTGTTGCAG 0.458000 52 60 6.56871e-35 1.03535e-34 0.870114 1 0 VIM 7431 broad.mit.edu 37 10 17275634 17275634 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:17275634G>T ENST00000544301.1 + 4 1086 c.673G>T c.(673-675)Gaa>Taa p.E225* VIM_ENST00000224237.5_Nonsense_Mutation_p.E225*|RP11-124N14.3_ENST00000456355.1_RNA NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 225 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACGCAAAGTGGAATCTTTGCA 0.458000 30 38 4.74835e-14 6.21227e-14 0.750413 1 0 MTMR14 64419 broad.mit.edu 37 3 9730437 9730437 + Splice_Site SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:9730437G>A ENST00000296003.4 + 15 1415 c.1294_splice c.e15+1 p.L431_splice MTMR14_ENST00000351233.5_Splice_Site_p.L431_splice|MTMR14_ENST00000353332.5_Splice_Site_p.L431_splice|MTMR14_ENST00000420925.1_Splice_Site_p.L185_splice NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 431 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) TCTGCATGCTGAGTGAGTCCT 0.498000 5 68 0 0 0.184627 0 0 NPY1R 4886 broad.mit.edu 37 4 164247218 164247218 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:164247218C>A ENST00000296533.2 - 2 1020 c.489G>T c.(487-489)tgG>tgT p.W163C NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 163 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGCAAGGACCCAAATCACAG 0.438000 57 44 1.59911e-31 2.49673e-31 0.870114 1 0 CALCR 799 broad.mit.edu 37 7 93063564 93063564 + Splice_Site SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:93063564C>A ENST00000359558.2 - 15 1593 c.e15+1 CALCR_ENST00000360249.4_Splice_Site|CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site|CALCR_ENST00000426151.1_Splice_Site NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TGCATGCTTACCTCATTGTTG 0.358000 26 45 6.38683e-12 7.97751e-12 0.729181 1 0 SLC18A2 6571 broad.mit.edu 37 10 119013584 119013584 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr10:119013584C>A ENST00000298472.5 + 5 692 c.549C>A c.(547-549)gcC>gcA p.A183A SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 183 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GCAGCTATGCCTTCCTGCTGA 0.597000 63 103 3.30712e-30 5.0445e-30 0.870114 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171198 68171198 + Silent SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr17:68171198C>A ENST00000243457.3 + 2 401 c.18C>A c.(16-18)acC>acA p.T6T KCNJ2_ENST00000535240.1_Silent_p.T6T NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 6 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) GTGTGCGAACCAACCGCTACA 0.493000 15 27 2.35188e-11 2.90475e-11 0.539581 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 63 0 0 0.184627 0 0 FRY 10129 broad.mit.edu 37 13 32745188 32745188 + Silent SNP A A C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:32745188A>C ENST00000380250.3 + 18 2428 c.1932A>C c.(1930-1932)gcA>gcC p.A644A NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 644 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GACATATTGCACAAAATTCTC 0.363000 41 85 0 0 0.853193 0 0 SLC39A6 25800 broad.mit.edu 37 18 33704551 33704551 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:33704551C>A ENST00000269187.5 - 3 1115 c.902G>T c.(901-903)aGa>aTa p.R301I SLC39A6_ENST00000590986.1_Missense_Mutation_p.R301I|SLC39A6_ENST00000440549.2_Missense_Mutation_p.R26I NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 301 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 CAGACAAGATCTAGCATCAAT 0.383000 19 58 1.56452e-12 1.97656e-12 0.557998 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766851 77766851 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:77766851C>A ENST00000521891.2 + 10 8142 c.7694C>A c.(7693-7695)tCc>tAc p.S2565Y ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2539Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2520Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2520Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2520 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGGCCAGTTCCTCCCACACC 0.498000 HNSCC(33;0.089) 32 52 5.60225e-13 7.10477e-13 0.740014 1 0 NOX5 79400 broad.mit.edu 37 15 69339834 69339834 + Missense_Mutation SNP G G A rs145431252 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:69339834G>A ENST00000260364.5 + 13 2021 c.1720G>A c.(1720-1722)Ggc>Agc p.G574S NOX5_ENST00000388866.3_Missense_Mutation_p.G592S|NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000530406.2_Missense_Mutation_p.G564S|NOX5_ENST00000455873.3_Missense_Mutation_p.G557S|NOX5_ENST00000448182.3_Missense_Mutation_p.G546S Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 592 FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GGCAGGCATCGGCATCACCCC 0.602000 11 41 0 0 0.411799 0 0 PRSS38 339501 broad.mit.edu 37 1 228003938 228003938 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:228003938C>A ENST00000366757.3 + 2 320 c.296C>A c.(295-297)gCg>gAg p.A99E NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 99 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTGTCAGCTGCGCACTGCTTT 0.672000 49 102 1.30916e-28 1.96078e-28 0.870114 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801006 185801006 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:185801006G>T ENST00000302277.6 + 4 1477 c.883G>T c.(883-885)Gag>Tag p.E295* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 295 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TCAAACTCAAGAGATAAAAGA 0.348000 38 34 1.36161e-19 1.95954e-19 0.796494 1 0 MCTP2 55784 broad.mit.edu 37 15 94841680 94841680 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:94841680C>T ENST00000357742.4 + 1 186 c.186C>T c.(184-186)gcC>gcT p.A62A MCTP2_ENST00000543482.1_Silent_p.A62A|MCTP2_ENST00000451018.3_Silent_p.A62A|MCTP2_ENST00000331706.4_5'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 62 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGGCCTTGGCCCCAGAGGGCC 0.607000 22 49 0 0 0.608945 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580431 140580431 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:140580431G>C ENST00000354757.3 + 1 1084 c.1084G>C c.(1084-1086)Gag>Cag p.E362Q PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 362 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACGCCAGAGACCGTGGT 0.408000 38 79 0 0 0.804634 0 0 DLX2 1746 broad.mit.edu 37 2 172965613 172965613 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:172965613C>G ENST00000234198.4 - 3 1006 c.645G>C c.(643-645)gaG>gaC p.E215D DLX2_ENST00000466293.2_3'UTR NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 215 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCGAGGGGATCTCACCACTTT 0.577000 8 39 0 0 0.278610 0 0 PRC1 9055 broad.mit.edu 37 15 91512705 91512705 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:91512705G>T ENST00000361188.5 - 13 2932 c.1721C>A c.(1720-1722)tCt>tAt p.S574Y PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Intron|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000394249.3_Missense_Mutation_p.S574Y|PRC1-AS1_ENST00000556200.1_RNA O43663 PRC1_HUMAN protein regulator of cytokinesis 1 574 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) GCTGGCAACAGAATTAATGCT 0.542000 5 119 0.00116845 0.0012396 0.217242 1 0 PSD4 23550 broad.mit.edu 37 2 113955142 113955142 + Splice_Site SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:113955142G>A ENST00000245796.6 + 13 2583 c.2386_splice c.e13-1 p.T796_splice PSD4_ENST00000441564.2_Splice_Site_p.T768_splice NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 796 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGGAACAGCGCCATGGGGCA 0.547000 20 28 0 0 0.624587 0 0 ABCA13 154664 broad.mit.edu 37 7 48626780 48626780 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:48626780C>G ENST00000435803.1 + 57 14560 c.14536C>G c.(14536-14538)Ctc>Gtc p.L4846V ABCA13_ENST00000544596.1_Missense_Mutation_p.L576V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4846 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCGCTTACACCTCGAAGCCCA 0.572000 12 11 0 0 0.387290 0 0 GADD45G 10912 broad.mit.edu 37 9 92220638 92220638 + Missense_Mutation SNP A A G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr9:92220638A>G ENST00000252506.6 + 3 321 c.212A>G c.(211-213)gAc>gGc p.D71G GADD45G_ENST00000494726.1_Intron|GADD45G_ENST00000375769.1_Missense_Mutation_p.D53G NM_006705.3 NP_006696.1 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 71 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding lung(2) 2 GACGAGGGCGACATCGCGCTG 0.627000 18 21 0 0 0.575678 0 0 GABRA2 2555 broad.mit.edu 37 4 46252494 46252494 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:46252494G>A ENST00000510861.1 - 10 1360 c.1187C>T c.(1186-1188)cCc>cTc p.P396L GABRA2_ENST00000381620.4_Missense_Mutation_p.P396L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P456L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P401L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P396L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P396L P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 396 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTCTTGTTGGGTTCTGGCGT 0.428000 62 178 0 0 0.870114 0 0 NUF2 83540 broad.mit.edu 37 1 163315514 163315514 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:163315514G>T ENST00000271452.3 + 11 1133 c.854G>T c.(853-855)tGc>tTc p.C285F NUF2_ENST00000367900.3_Missense_Mutation_p.C285F|NUF2_ENST00000524800.1_Intron NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 285 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) TCAGTTGACTGCCTGCCTTCA 0.368000 33 77 1.22384e-17 1.70924e-17 0.769981 1 0 SYNE2 23224 broad.mit.edu 37 14 64634321 64634321 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr14:64634321C>A ENST00000357395.3 + 93 17168 c.6024C>A c.(6022-6024)agC>agA p.S2008R SYNE2_ENST00000344113.4_Missense_Mutation_p.S5623R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2008R|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5623R|SYNE2_ENST00000555002.1_Missense_Mutation_p.S2257R|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5498R Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5623 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) TGGCTAACAGCCTTCCTGAGC 0.458000 17 46 3.52763e-06 3.93147e-06 0.520397 1 0 CAMSAP1 157922 broad.mit.edu 37 9 138713787 138713787 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr9:138713787C>T ENST00000389532.4 - 11 2784 c.2720G>A c.(2719-2721)cGc>cAc p.R907H CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R629H|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R918H|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 907 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GAGCTTCAGGCGCTGCCTTGC 0.617000 60 97 0 0 0.870114 0 0 FNIP1 96459 broad.mit.edu 37 5 131080266 131080266 + Missense_Mutation SNP T T C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:131080266T>C ENST00000514667.1 - 2 271 c.210A>G c.(208-210)atA>atG p.I70M FNIP1_ENST00000307954.8_Missense_Mutation_p.I70M|FNIP1_ENST00000511848.1_Missense_Mutation_p.I70M|FNIP1_ENST00000510461.1_Missense_Mutation_p.I70M|FNIP1_ENST00000307968.7_Missense_Mutation_p.I70M folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CCGATACTGATATGTCCTCAT 0.368000 38 51 0 0 0.859065 0 0 CPED1 79974 broad.mit.edu 37 7 120780890 120780890 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:120780890C>A ENST00000310396.5 + 15 2176 c.1709C>A c.(1708-1710)aCa>aAa p.T570K CPED1_ENST00000423795.1_Missense_Mutation_p.T350K|CPED1_ENST00000450913.2_Missense_Mutation_p.T570K NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GATGAAAACACACCATGTCAT 0.303000 9 33 0.0477658 0.0487977 0.307466 1 0 IGLC2 3538 broad.mit.edu 37 22 23243367 23243367 + RNA SNP T T C rs8033 by1000genomes TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:23243367T>C ENST00000390323.2 + 0 212 CCAGCAGCTATCTGAGCCTGA 0.587000 3 9 0 0 0.115264 0 0 STARD8 9754 broad.mit.edu 37 X 67937210 67937210 + Nonsense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chrX:67937210G>T ENST00000252336.6 + 5 586 c.214G>T c.(214-216)Gag>Tag p.E72* STARD8_ENST00000374599.3_Nonsense_Mutation_p.E152*|STARD8_ENST00000374597.3_Nonsense_Mutation_p.E72* NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 72 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity 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 CGTCCTCACCGAGCTTAGTGC 0.642000 4 4 0.014758 0.0151235 0.184627 1 0 ING1 3621 broad.mit.edu 37 13 111372015 111372015 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr13:111372015C>T ENST00000375774.3 + 2 1467 c.1005C>T c.(1003-1005)gcC>gcT p.A335A ING1_ENST00000338450.7_Silent_p.A148A|ING1_ENST00000333219.7_Silent_p.A192A|ING1_ENST00000375775.3_Silent_p.A123A NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 335 A -> D (in HNSCC). cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GCTCCAAGGCCAAGGCGGAGC 0.627000 21 34 0 0 0.592651 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48602932 48602932 + Missense_Mutation SNP C C A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:48602932C>A ENST00000354276.3 - 5 770 c.443G>T c.(442-444)aGa>aTa p.R148I PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R148I|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R148I|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R158I NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 148 PLA2c. R -> G (in dbSNP:rs2307282). arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) ACTTACTTCTCTGGTTTGCTT 0.522000 48 18 5.2432e-18 7.41667e-18 0.870114 1 0 NCKAP5 344148 broad.mit.edu 37 2 133636466 133636466 + Missense_Mutation SNP C C G TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:133636466C>G ENST00000409261.1 - 9 976 c.603G>C c.(601-603)ttG>ttC p.L201F NCKAP5_ENST00000317721.6_Missense_Mutation_p.L201F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L201F|NCKAP5_ENST00000405974.3_Missense_Mutation_p.L201F NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 201 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 TTTCATTCTCCAAAGCCAACG 0.403000 18 51 0 0 0.539581 0 0 SNRPD3 6634 broad.mit.edu 37 22 24964112 24964112 + Missense_Mutation SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr22:24964112G>T ENST00000215829.3 + 3 874 c.287G>T c.(286-288)gGc>gTc p.G96V SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96V NM_001278656.1|NM_004175.3 NP_001265585.1|NP_004166.1 P62318 SMD3_HUMAN small nuclear ribonucleoprotein D3 polypeptide 18kDa 96 Arg/Lys-rich (basic). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 TCAGGGGCTGGCCGAGGAAAA 0.453000 26 40 1.77063e-15 2.39216e-15 0.693898 1 0 BMPER 168667 broad.mit.edu 37 7 34085917 34085917 + Splice_Site SNP G G T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:34085917G>T ENST00000297161.2 + 8 950 c.e8-1 BMPER_ENST00000494786.1_Splice_Site|BMPER_ENST00000426693.1_Splice_Site NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TCTTTTCTTAGGGAGGCAGGA 0.433000 28 112 2.12542e-12 2.66482e-12 0.706142 1 0 C1QA 712 broad.mit.edu 37 1 22965531 22965531 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:22965531delC ENST00000374642.3 + 3 573 c.369delC c.(367-369)aafs p.N123fs C1QA_ENST00000402322.1_Frame_Shift_Del_p.N123fs NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 123 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTCGGCGGAACCCCCCAATGG 0.622 14 22 --- --- --- --- MROH9 80133 broad.mit.edu 37 1 170940953 170940974 + Frame_Shift_Del DEL AAGATCCCTCGATTGTAAAACA AAGATCCCTCGATTGTAAAACA - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr1:170940953_170940974delAAGATCCCTCGATTGTAAAACA ENST00000367759.4 + 8 699_720 c.545_566delAAGATCCCTCGATTGTAAAACA c.(544-567)gafs p.EDPSIVKQ182fs MROH9_ENST00000367758.3_Frame_Shift_Del_p.EDPSIVKQ182fs NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 p.S185L(2)|p.P184H(2)|p.S185S(1) TGTTCCCATGAAGATCCCTCGATTGTAAAACAAGCATCATTG 0.432 68 283 --- --- --- --- IL36G 56300 broad.mit.edu 37 2 113742558 113742558 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr2:113742558delC ENST00000259205.4 + 5 511 c.442delC c.(442-444)ccfs p.P148fs IL36G_ENST00000376489.2_Frame_Shift_Del_p.P113fs NM_019618.2 NP_062564.1 Q9NZH8 IL36G_HUMAN interleukin 36, gamma 148 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GAGAGACCAGCCCATCATTCT 0.488 29 78 --- --- --- --- ZNF148 7707 broad.mit.edu 37 3 124996612 124996612 + Frame_Shift_Del DEL T T - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr3:124996612delT ENST00000360647.4 - 7 1110 c.625delA c.(625-627)tafs p.I209fs ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Frame_Shift_Del_p.I17fs|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000544464.1_Frame_Shift_Del_p.I4fs|SLC12A8_ENST00000423114.2_Frame_Shift_Del_p.S32fs NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 209 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TACTTCTGTATGAAACGCATG 0.338 21 43 --- --- --- --- NDST4 64579 broad.mit.edu 37 4 115998015 115998016 + Frame_Shift_Ins INS - - T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr4:115998015_115998016insT ENST00000264363.2 - 2 855_856 c.177_178insA c.(175-180)ccatagfs p.*60fs NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 60 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTGACCTATATGGTAGAATTT 0.416 25 58 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176562850 176562850 + Frame_Shift_Del DEL A A - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr5:176562850delA ENST00000439151.2 + 2 791 c.746delA c.(745-747)gafs p.E249fs NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Frame_Shift_Del_p.E249fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 249 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGCAGCAATGAAAAAGCAGCC 0.413 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 25 40 --- --- --- --- FASTK 10922 broad.mit.edu 37 7 150774247 150774249 + In_Frame_Del DEL TGG TGG - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr7:150774247_150774249delTGG ENST00000297532.6 - 8 1443_1445 c.1366_1368delCCA c.(1366-1368)del p.P456del FASTK_ENST00000353841.2_In_Frame_Del_p.P315del|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_In_Frame_Del_p.P429del NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 456 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGCAGGACCTTGGTGGGTATGGC 0.685 10 64 --- --- --- --- DCAF4L2 138009 broad.mit.edu 37 8 88885101 88885101 + Frame_Shift_Del DEL C C - rs138379350 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr8:88885101delC ENST00000319675.3 - 1 1195 c.1099delG c.(1099-1101)ccfs p.A367fs NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 367 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAAGAGAAGGCCACACTGGGA 0.582 25 63 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89385707 89385707 + RNA DEL A A - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr11:89385707delA ENST00000532352.1 + 0 344 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CCAGGATATGAAAATGTTTCG 0.308 43 50 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28900331 28900332 + RNA DEL AA AA - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:28900331_28900332delAA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaaa 0.411 2 4 --- --- --- --- SNX1 6642 broad.mit.edu 37 15 64426931 64426937 + Frame_Shift_Del DEL GCGGGAG GCGGGAG - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr15:64426931_64426937delGCGGGAG ENST00000261889.5 + 12 1311_1317 c.1290_1296delGCGGGAG c.(1288-1296)aafs p.KRE430fs SNX1_ENST00000559844.1_Frame_Shift_Del_p.KRE430fs|SNX1_ENST00000561026.1_Frame_Shift_Del_p.KRE365fs|SNX1_ENST00000560829.1_Frame_Shift_Del_p.KRE212fs|SNX1_ENST00000353874.4_Intron NM_001242933.1|NM_003099.4 NP_001229862.1|NP_003090.2 Q13596 SNX1_HUMAN sorting nexin 1 430 BAR. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 TGCAGAAGAAGCGGGAGGCCGAGGCTC 0.643 16 21 --- --- --- --- ASXL3 80816 broad.mit.edu 37 18 31319308 31319308 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr18:31319308delC ENST00000269197.5 + 11 1940 c.1940delC c.(1939-1941)aafs p.T648fs NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 648 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCCCTTGAGACAACATTTTGT 0.443 16 25 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9082881 9082881 + Frame_Shift_Del DEL G G - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:9082881delG ENST00000397910.4 - 1 9137 c.8934delC c.(8932-8934)ccfs p.P2978fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2979 Ser-rich.|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 TTCCTGAAGTGGGGACTCTGG 0.502 63 62 --- --- --- --- EMP3 2014 broad.mit.edu 37 19 48833629 48833629 + Frame_Shift_Del DEL G G - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr19:48833629delG ENST00000270221.6 + 5 695 c.394delG c.(394-396)ggfs p.G133fs EMP3_ENST00000597279.1_Frame_Shift_Del_p.G133fs|EMP3_ENST00000596315.1_Frame_Shift_Del_p.G64fs NM_001425.2 NP_001416.1 P54852 EMP3_HUMAN epithelial membrane protein 3 133 cell growth|negative regulation of cell proliferation integral to membrane lung(1) 1 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) GCACCCGCGAGGGGGCAGCTT 0.622 43 34 --- --- --- --- RRP1B 23076 broad.mit.edu 37 21 45113189 45113203 + In_Frame_Del DEL CAGCTCACCCCTGGT CAGCTCACCCCTGGT - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chr21:45113189_45113203delCAGCTCACCCCTGGT ENST00000340648.4 + 16 2319_2333 c.2202_2216delCAGCTCACCCCTGGT c.(2200-2217)gcg>gc p.ASSPLV734del NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 734 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding p.V739E(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) GCTCACCTGCCAGCTCACCCCTGGTGGCCAAGAAG 0.586 7 17 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 a3fb8d58-8cd9-41b8-b108-b5ca14a116a6 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 5 4 --- --- --- --- C1QA 712 broad.mit.edu 37 1 22965531 22965531 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:22965531delC ENST00000374642.3 + 3 573 c.369delC c.(367-369)aafs p.N123fs C1QA_ENST00000402322.1_Frame_Shift_Del_p.N123fs NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 123 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTCGGCGGAACCCCCCAATGG 0.622 14 22 --- --- --- --- MROH9 80133 broad.mit.edu 37 1 170940953 170940974 + Frame_Shift_Del DEL AAGATCCCTCGATTGTAAAACA AAGATCCCTCGATTGTAAAACA - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr1:170940953_170940974delAAGATCCCTCGATTGTAAAACA ENST00000367759.4 + 8 699_720 c.545_566delAAGATCCCTCGATTGTAAAACA c.(544-567)gafs p.EDPSIVKQ182fs MROH9_ENST00000367758.3_Frame_Shift_Del_p.EDPSIVKQ182fs NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 p.S185L(2)|p.P184H(2)|p.S185S(1) TGTTCCCATGAAGATCCCTCGATTGTAAAACAAGCATCATTG 0.432 68 283 --- --- --- --- IL36G 56300 broad.mit.edu 37 2 113742558 113742558 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr2:113742558delC ENST00000259205.4 + 5 511 c.442delC c.(442-444)ccfs p.P148fs IL36G_ENST00000376489.2_Frame_Shift_Del_p.P113fs NM_019618.2 NP_062564.1 Q9NZH8 IL36G_HUMAN interleukin 36, gamma 148 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GAGAGACCAGCCCATCATTCT 0.488 29 78 --- --- --- --- ZNF148 7707 broad.mit.edu 37 3 124996612 124996612 + Frame_Shift_Del DEL T T - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr3:124996612delT ENST00000360647.4 - 7 1110 c.625delA c.(625-627)tafs p.I209fs ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Frame_Shift_Del_p.S32fs|ZNF148_ENST00000544464.1_Frame_Shift_Del_p.I4fs|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000468369.1_Frame_Shift_Del_p.I17fs NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 209 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TACTTCTGTATGAAACGCATG 0.338 21 43 --- --- --- --- NDST4 64579 broad.mit.edu 37 4 115998015 115998016 + Frame_Shift_Ins INS - - T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr4:115998015_115998016insT ENST00000264363.2 - 2 855_856 c.177_178insA c.(175-180)ccatagfs p.*60fs NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 60 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTGACCTATATGGTAGAATTT 0.416 25 58 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176562850 176562850 + Frame_Shift_Del DEL A A - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr5:176562850delA ENST00000439151.2 + 2 791 c.746delA c.(745-747)gafs p.E249fs NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Frame_Shift_Del_p.E249fs|NSD1_ENST00000511258.1_Intron NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 249 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGCAGCAATGAAAAAGCAGCC 0.413 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 25 40 --- --- --- --- FASTK 10922 broad.mit.edu 37 7 150774247 150774249 + In_Frame_Del DEL TGG TGG - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr7:150774247_150774249delTGG ENST00000297532.6 - 8 1443_1445 c.1366_1368delCCA c.(1366-1368)del p.P456del FASTK_ENST00000482571.1_In_Frame_Del_p.P429del|FASTK_ENST00000353841.2_In_Frame_Del_p.P315del|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 456 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGCAGGACCTTGGTGGGTATGGC 0.685 10 64 --- --- --- --- DCAF4L2 138009 broad.mit.edu 37 8 88885101 88885101 + Frame_Shift_Del DEL C C - rs138379350 TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr8:88885101delC ENST00000319675.3 - 1 1195 c.1099delG c.(1099-1101)ccfs p.A367fs NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 367 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAAGAGAAGGCCACACTGGGA 0.582 25 63 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89385707 89385707 + RNA DEL A A - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr11:89385707delA ENST00000532352.1 + 0 344 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CCAGGATATGAAAATGTTTCG 0.308 43 50 --- --- --- --- SNX1 6642 broad.mit.edu 37 15 64426931 64426937 + Frame_Shift_Del DEL GCGGGAG GCGGGAG - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr15:64426931_64426937delGCGGGAG ENST00000261889.5 + 12 1311_1317 c.1290_1296delGCGGGAG c.(1288-1296)aafs p.KRE430fs SNX1_ENST00000353874.4_Intron|SNX1_ENST00000560829.1_Frame_Shift_Del_p.KRE212fs|SNX1_ENST00000561026.1_Frame_Shift_Del_p.KRE365fs|SNX1_ENST00000559844.1_Frame_Shift_Del_p.KRE430fs NM_001242933.1|NM_003099.4 NP_001229862.1|NP_003090.2 Q13596 SNX1_HUMAN sorting nexin 1 430 BAR. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 TGCAGAAGAAGCGGGAGGCCGAGGCTC 0.643 16 21 --- --- --- --- NPIPB1P 729602 broad.mit.edu 37 18 11621200 11621200 + RNA DEL G G - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:11621200delG ENST00000547442.1 - 0 718 CAGAGCTGTAGGGAGAAAAAT 0.507 62 83 --- --- --- --- ASXL3 80816 broad.mit.edu 37 18 31319308 31319308 + Frame_Shift_Del DEL C C - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr18:31319308delC ENST00000269197.5 + 11 1940 c.1940delC c.(1939-1941)aafs p.T648fs NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 648 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCCCTTGAGACAACATTTTGT 0.443 16 25 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9082881 9082881 + Frame_Shift_Del DEL G G - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:9082881delG ENST00000397910.4 - 1 9137 c.8934delC c.(8932-8934)ccfs p.P2978fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2979 Ser-rich.|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 TTCCTGAAGTGGGGACTCTGG 0.502 63 62 --- --- --- --- EMP3 2014 broad.mit.edu 37 19 48833629 48833629 + Frame_Shift_Del DEL G G - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr19:48833629delG ENST00000270221.6 + 5 695 c.394delG c.(394-396)ggfs p.G133fs EMP3_ENST00000597279.1_Frame_Shift_Del_p.G133fs|EMP3_ENST00000596315.1_Frame_Shift_Del_p.G64fs NM_001425.2 NP_001416.1 P54852 EMP3_HUMAN epithelial membrane protein 3 133 cell growth|negative regulation of cell proliferation integral to membrane lung(1) 1 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) GCACCCGCGAGGGGGCAGCTT 0.622 43 34 --- --- --- --- RRP1B 23076 broad.mit.edu 37 21 45113189 45113203 + In_Frame_Del DEL CAGCTCACCCCTGGT CAGCTCACCCCTGGT - TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e5a202-125b-4fd6-866e-78c1cf41a9f1 b03fbfc0-1f50-41be-8f85-5d2a32ae7230 g.chr21:45113189_45113203delCAGCTCACCCCTGGT ENST00000340648.4 + 16 2319_2333 c.2202_2216delCAGCTCACCCCTGGT c.(2200-2217)gcg>gc p.ASSPLV734del NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 734 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding p.V739E(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) GCTCACCTGCCAGCTCACCCCTGGTGGCCAAGAAG 0.586 7 17 --- --- --- ---