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 DIS3L2 129563 broad.mit.edu 37 2 233028203 233028203 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:233028203A>T ENST00000325385.7 + 9 1261 c.985A>T c.(985-987)Att>Ttt p.I329F DIS3L2_ENST00000409307.1_Missense_Mutation_p.I329F|DIS3L2_ENST00000360410.4_Missense_Mutation_p.K348N|DIS3L2_ENST00000273009.6_Missense_Mutation_p.I329F NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 329 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) GGCTGGTGAAATTGAGCCTGA 0.453000 10 26 0 0 0.058154 0 0 POU3F2 5454 broad.mit.edu 37 6 99283514 99283514 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:99283514C>A ENST00000328345.5 + 1 935 c.765C>A c.(763-765)caC>caA p.H255Q NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 255 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) CAGGCGCGCACCACGACCCGC 0.706000 9 36 0.00621372 0.00674442 0.058154 1 0 PRUNE2 158471 broad.mit.edu 37 9 79326184 79326184 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:79326184C>T ENST00000376718.3 - 8 1129 c.1006G>A c.(1006-1008)Gag>Aag p.E336K PRUNE2_ENST00000428286.1_5'UTR NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 336 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GAAGGGTCCTCTTGTTGGTAC 0.512000 5 17 0 0 0.021553 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496657 20496657 + RNA SNP C C T rs7180374 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:20496657C>T ENST00000555186.1 + 0 710 NR_038836.1 GACCACAAAGCGCCCGGCTGT 0.438000 9 49 0 0 0.058154 0 0 FGD3 89846 broad.mit.edu 37 9 95776272 95776272 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:95776272C>T ENST00000375482.3 + 9 1670 c.1174C>T c.(1174-1176)Ctc>Ttc p.L392F FGD3_ENST00000337352.6_Missense_Mutation_p.L392F|FGD3_ENST00000416701.2_Missense_Mutation_p.L392F NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 392 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GGACCGCCACCTCTTCCTGGT 0.632000 4 46 0 0 0.033300 0 0 MIA3 375056 broad.mit.edu 37 1 222805568 222805568 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:222805568G>T ENST00000344922.5 + 5 3256 c.3231G>T c.(3229-3231)caG>caT p.Q1077H MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1077H NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1077 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TTAATGTGCAGGTTCCTGAAG 0.483000 25 88 1.08312e-15 1.46823e-15 0.041601 1 0 OR5D14 219436 broad.mit.edu 37 11 55563066 55563066 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:55563066C>T ENST00000335605.1 + 1 35 c.35C>T c.(34-36)cCc>cTc p.P12L NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) AGCATGGAGCCCACCTTTGCC 0.408000 4 78 0 0 0.021553 0 0 DOCK9 23348 broad.mit.edu 37 13 99462449 99462449 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr13:99462449T>C ENST00000376460.1 - 47 5307 c.5227A>G c.(5227-5229)Att>Gtt p.I1743V DOCK9_ENST00000339416.2_Missense_Mutation_p.I1744V|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1744 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTCTCATAAATGGGGATGATA 0.473000 53 63 0 0 0.048971 0 0 DENND5B 160518 broad.mit.edu 37 12 31633142 31633142 + Missense_Mutation SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:31633142T>G ENST00000389082.5 - 3 549 c.285A>C c.(283-285)aaA>aaC p.K95N DENND5B_ENST00000354285.4_Missense_Mutation_p.K117N|DENND5B_ENST00000536562.1_Missense_Mutation_p.K130N|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000306833.6_Missense_Mutation_p.K130N NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 95 UDENN. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ACTGGGGGTCTTTATTGTCCG 0.363000 4 26 0 0 0.021553 0 0 EPHA6 285220 broad.mit.edu 37 3 97439124 97439124 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:97439124G>T ENST00000389672.5 + 15 2842 c.2804G>T c.(2803-2805)aGg>aTg p.R935M NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 840 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 ATCCCCATAAGGTGGACAGCC 0.413000 13 39 2.32078e-09 2.97411e-09 0.024245 1 0 SEMA3A 10371 broad.mit.edu 37 7 83823799 83823799 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:83823799G>C ENST00000265362.3 - 1 418 c.104C>G c.(103-105)tCc>tGc p.S35C SEMA3A_ENST00000436949.1_Missense_Mutation_p.S35C NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 35 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ACCTTTGTAGGATAATTTCAG 0.403000 23 55 0 0 0.099896 0 0 TRAPPC1 58485 broad.mit.edu 37 17 7834428 7834428 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:7834428T>C ENST00000303731.4 - 3 325 c.210A>G c.(208-210)aaA>aaG p.K70K TRAPPC1_ENST00000540486.1_Silent_p.K70K NM_021210.4 NP_067033.1 Q9Y5R8 TPPC1_HUMAN trafficking protein particle complex 1 70 ER to Golgi vesicle-mediated transport endoplasmic reticulum breast(1)|lung(2) 3 Prostate(122;0.173) AGTAATGGAGTTTGTAACGGC 0.512000 10 18 0 0 0.093190 0 0 TRIM51 84767 broad.mit.edu 37 11 55653094 55653094 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:55653094C>T ENST00000449290.2 + 2 282 c.190C>T c.(190-192)Ctc>Ttc p.L64F NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 64 intracellular zinc ion binding GCAGAGAAACCTCAACACTGA 0.502000 9 11 0 0 0.058154 0 0 HTR1E 3354 broad.mit.edu 37 6 87726013 87726013 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:87726013G>T ENST00000305344.4 + 2 1664 c.961G>T c.(961-963)Gtg>Ttg p.V321L HTR1E_ENST00000369584.1_Missense_Mutation_p.V321L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 321 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) CATCTACACCGTGTCCTCGGA 0.483000 64 202 2.43199e-30 3.54907e-30 0.048971 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51914558 51914558 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:51914558G>A ENST00000353836.5 - 10 1825 c.1604C>T c.(1603-1605)tCc>tTc p.S535F SIGLEC10_ENST00000436984.2_Missense_Mutation_p.S487F|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.S387F|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.S572F|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.S477F|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.S630F|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.S630F|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.S452F|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.S445F NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 630 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TGATTCTGGGGAGGGAGCACC 0.517000 28 38 0 0 0.034045 0 0 TRIM43 129868 broad.mit.edu 37 2 96261979 96261979 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:96261979C>A ENST00000272395.2 + 4 673 c.537C>A c.(535-537)atC>atA p.I179I NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 179 intracellular zinc ion binding breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 CACAGATGATCAGGAATGAGT 0.428000 4 19 0.014758 0.015575 0.014758 1 0 SERPINA11 256394 broad.mit.edu 37 14 94914753 94914753 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:94914753C>A ENST00000334708.3 - 2 423 c.359G>T c.(358-360)cGg>cTg p.R120L RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 120 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GAGGAGGCTCCGGAAGCCCTG 0.572000 64 110 1.77355e-41 2.65164e-41 0.048971 1 0 SPEG 10290 broad.mit.edu 37 2 220354245 220354245 + Silent SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:220354245C>G ENST00000312358.7 + 36 8637 c.8505C>G c.(8503-8505)ctC>ctG p.L2835L AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2835 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGTCCTCGCTCAAGGCTGTGG 0.687000 4 28 0 0 0.009096 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332723 100332723 + RNA SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:100332723G>T ENST00000341853.1 - 0 1468 NR_003260.1 gggggtgggcgtgagggtggg 0.602000 9 37 0.00448238 0.00488259 0.047766 1 0 FAM214B 80256 broad.mit.edu 37 9 35107982 35107982 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:35107982G>A ENST00000378561.1 - 2 3345 c.290C>T c.(289-291)tCt>tTt p.S97F FAM214B_ENST00000603301.1_Missense_Mutation_p.S97F|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000605244.1_Missense_Mutation_p.S97F|FAM214B_ENST00000322813.5_Missense_Mutation_p.S97F|FAM214B_ENST00000378554.2_Missense_Mutation_p.S97F|FAM214B_ENST00000488109.2_Missense_Mutation_p.S97F|FAM214B_ENST00000378557.1_Missense_Mutation_p.S97F Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 97 nucleus CCCCACAGTAGATGGTTCTTC 0.632000 6 98 0 0 0.029380 0 0 NNMT 4837 broad.mit.edu 37 11 114182962 114182962 + Silent SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:114182962A>T ENST00000535401.1 + 5 822 c.558A>T c.(556-558)ctA>ctT p.L186L NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Silent_p.L186L|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000542647.1_5'UTR P40261 NNMT_HUMAN nicotinamide N-methyltransferase 186 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) TCGGCAGCCTACTGAAGCCAG 0.632000 8 17 0 0 0.047766 0 0 SELL 6402 broad.mit.edu 37 1 169677568 169677568 + Silent SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:169677568G>C ENST00000236147.4 - 3 661 c.501C>G c.(499-501)ctC>ctG p.L167L C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 154 EGF-like. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) CTGTGTAACAGAGGGCTGCCT 0.498000 26 161 0 0 0.045705 0 0 PNCK 139728 broad.mit.edu 37 X 152936415 152936415 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:152936415G>T ENST00000393831.2 - 9 1267 c.833C>A c.(832-834)cCc>cAc p.P278H PNCK_ENST00000370142.1_Missense_Mutation_p.P278H|PNCK_ENST00000370145.4_Missense_Mutation_p.P272H|PNCK_ENST00000370150.1_Missense_Mutation_p.P255H|PNCK_ENST00000447676.2_Missense_Mutation_p.P338H|PNCK_ENST00000340888.3_Missense_Mutation_p.P255H NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 255 cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTCTTCTGGGGGTCTCGCTC 0.632000 21 55 2.98393e-07 3.6404e-07 0.076483 1 0 SGTB 54557 broad.mit.edu 37 5 64976348 64976348 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:64976348C>T ENST00000381007.4 - 8 889 c.654G>A c.(652-654)ttG>ttA p.L218L NM_019072.2 NP_061945.1 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta 218 binding large_intestine(3)|lung(3)|skin(3) 9 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) GATTATTTATCAAGCTAGCCA 0.348000 4 6 0 0 0.009096 0 0 ALK 238 broad.mit.edu 37 2 29940452 29940452 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:29940452C>A ENST00000389048.3 - 2 1685 c.779G>T c.(778-780)aGc>aTc p.S260I ALK_ENST00000431873.1_Missense_Mutation_p.S260I NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 260 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ACCATATCGGCTGCGATGAGA 0.388000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 27 40 1.38267e-23 1.98922e-23 0.108266 1 0 XYLT1 64131 broad.mit.edu 37 16 17352994 17352994 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:17352994G>A ENST00000261381.6 - 3 848 c.764C>T c.(763-765)cCt>cTt p.P255L NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 255 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GTCACACTTAGGGGGCTGGTC 0.612000 22 140 0 0 0.069288 0 0 NUP35 129401 broad.mit.edu 37 2 184022190 184022190 + Silent SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:184022190T>G ENST00000295119.4 + 6 661 c.558T>G c.(556-558)gcT>gcG p.A186A NUP35_ENST00000541912.1_Silent_p.A51A|NUP35_ENST00000409798.1_Silent_p.A169A NM_138285.3 NP_612142.2 Q8NFH5 NUP53_HUMAN nucleoporin 35kDa 186 RRM Nup35-type. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 AAGCATCTGCTTCCTACATAT 0.333000 4 36 0 0 0.014758 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150530998 150530998 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:150530998T>C ENST00000271643.4 + 15 2668 c.2432T>C c.(2431-2433)gTt>gCt p.V811A ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.V811A|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V834A|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V811A NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 811 TSP type-1 3. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTTCGCTGTGTTGGGAACAAT 0.667000 3 18 0 0 0.014758 0 0 TTLL9 164395 broad.mit.edu 37 20 30497669 30497669 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:30497669C>T ENST00000375938.4 + 6 701 c.448C>T c.(448-450)Cac>Tac p.H150Y TTLL9_ENST00000375922.4_Missense_Mutation_p.H100Y|TTLL9_ENST00000535842.1_Missense_Mutation_p.H150Y|TTLL9_ENST00000310998.4_Missense_Mutation_p.H100Y|TTLL9_ENST00000375934.4_Missense_Mutation_p.H132Y|TTLL9_ENST00000375921.2_Missense_Mutation_p.H100Y Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 150 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TTGCGAGTACCACCTGTTTGT 0.567000 6 40 0 0 0.038147 0 0 LRRC20 55222 broad.mit.edu 37 10 72061136 72061136 + Nonsense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:72061136C>A ENST00000355790.4 - 5 1006 c.529G>T c.(529-531)Gaa>Taa p.E177* LRRC20_ENST00000373224.1_Nonsense_Mutation_p.E177*|LRRC20_ENST00000358141.2_Nonsense_Mutation_p.E127*|LRRC20_ENST00000395011.1_Nonsense_Mutation_p.E127*|LRRC20_ENST00000395010.1_Nonsense_Mutation_p.E121* NM_001278212.1|NM_001278214.1|NM_207119.1 NP_001265141.1|NP_001265143.1|NP_997002.1 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 177 endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 CTTGCGCCTTCCGGAGACATG 0.647000 16 74 8.34094e-07 1.00553e-06 0.049695 1 0 MTMR8 55613 broad.mit.edu 37 X 63444978 63444978 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:63444978G>A ENST00000453546.1 - 10 1767 c.1678C>T c.(1678-1680)Ctc>Ttc p.L560F ASB12_ENST00000396130.2_Missense_Mutation_p.L176F|ASB12_ENST00000362002.2_Missense_Mutation_p.L185F Q96EF0 MTMR8_HUMAN myotubularin related protein 8 0 nuclear envelope protein tyrosine phosphatase activity p.0?(2)|p.L176I(1)|p.L185I(1)|p.L560I(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 GCCAAATAGAGGGGGCCAGAA 0.557000 41 33 0 0 0.045515 0 0 KEAP1 9817 broad.mit.edu 37 19 10602799 10602799 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:10602799C>A ENST00000171111.5 - 3 1326 c.779G>T c.(778-780)cGa>cTa p.R260L KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R260L NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 260 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.R260Q(1) 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) GTAGAACCGTCGCTGTTCGCA 0.627000 8 10 3.09899e-07 3.75076e-07 0.047766 1 0 ZBTB39 9880 broad.mit.edu 37 12 57396734 57396734 + Silent SNP C C A rs148071081 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:57396734C>A ENST00000300101.2 - 2 2053 c.1968G>T c.(1966-1968)tcG>tcT p.S656S NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 656 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 TGAGGGCCCCCGAGTGTGTCT 0.572000 28 61 4.74835e-14 6.32423e-14 0.045705 1 0 THBS4 7060 broad.mit.edu 37 5 79368108 79368108 + Silent SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:79368108A>G ENST00000350881.2 + 14 1918 c.1728A>G c.(1726-1728)aaA>aaG p.K576K THBS4_ENST00000511733.1_Silent_p.K485K|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 576 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CAGGAATAAAAAACATTCTGG 0.493000 55 122 0 0 0.048971 0 0 PRAME 23532 broad.mit.edu 37 22 22892423 22892423 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr22:22892423G>T ENST00000543184.1 - 4 1540 c.678C>A c.(676-678)atC>atA p.I226I PRAME_ENST00000398741.1_Silent_p.I226I|PRAME_ENST00000539862.1_Silent_p.I210I|PRAME_ENST00000402697.1_Silent_p.I226I|PRAME_ENST00000424204.2_Silent_p.I210I|PRAME_ENST00000398743.2_Silent_p.I226I|PRAME_ENST00000405655.3_Silent_p.I226I NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 226 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CCATTTTCAGGATCATCTTGA 0.443000 4 18 2.0095e-06 2.39413e-06 0.029380 1 0 OR5D14 219436 broad.mit.edu 37 11 55563948 55563948 + Nonsense_Mutation SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:55563948T>G ENST00000335605.1 + 1 917 c.917T>G c.(916-918)tTa>tGa p.L306* NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TTCTGGAAGTTAATACATACA 0.403000 6 12 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179414451 179414451 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:179414451G>T ENST00000589042.1 - 338 92222 c.91998C>A c.(91996-91998)gcC>gcA p.A30666A TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.A28098A|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.A21601A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A29025A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.A21726A|TTN_ENST00000342175.6_Silent_p.A21793A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29025 Ig-like 138. 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) TTAGTGCCCAGGCAAGTCTGC 0.453000 12 42 1.08611e-07 1.3466e-07 0.080935 1 0 TRIM42 287015 broad.mit.edu 37 3 140406869 140406869 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:140406869C>A ENST00000286349.3 + 3 1536 c.1345C>A c.(1345-1347)Ctg>Atg p.L449M NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 449 COS. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AGCCAAGATCCTGGTGGACCA 0.552000 13 57 9.31168e-06 1.09233e-05 0.105934 1 0 RAB11FIP2 22841 broad.mit.edu 37 10 119805399 119805399 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:119805399C>A ENST00000355624.3 - 1 715 c.276G>T c.(274-276)gtG>gtT p.V92V RAB11FIP2_ENST00000369199.3_Silent_p.V92V NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 92 C2.|Necessary for its cellular translocation to the plasma membrane. protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) TATCCAGACCCACCAGGGACC 0.398000 5 13 1.23904e-05 1.44792e-05 0.014758 1 0 NHP2L1 4809 broad.mit.edu 37 22 42076369 42076369 + Splice_Site SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr22:42076369C>G ENST00000401959.1 - 3 320 c.e3-1 NHP2L1_ENST00000215956.5_Splice_Site|NHP2L1_ENST00000402458.1_Splice_Site|NHP2L1_ENST00000355257.3_Splice_Site|NHP2L1_ENST00000463675.1_Splice_Site NM_005008.3 NP_004999.1 P55769 NH2L1_HUMAN NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) nuclear mRNA splicing, via spliceosome|ribosome biogenesis box C/D snoRNP complex|nucleoplasm|spliceosomal complex protein binding|RNA binding endometrium(1)|kidney(1)|lung(1)|prostate(1) 4 CAGCCTCAGTCTATGGGGGGG 0.478000 3 31 0 0 0.014758 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11738 11738 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrM:11738T>C ENST00000361381.2 + 1 979 c.979T>C c.(979-981)Ttc>Ctc p.327_327insL mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CCTCATTACTATTCTGCCTAG 0.468000 7 727 0 0 0.047766 0 0 GABRQ 55879 broad.mit.edu 37 X 151820167 151820167 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:151820167C>A ENST00000370306.2 + 8 1100 c.1080C>A c.(1078-1080)cgC>cgA p.R360R NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 360 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GACCTCGGCGCCAGCCTAGGC 0.498000 19 47 2.54575e-18 3.54545e-18 0.055883 1 0 LRP1B 53353 broad.mit.edu 37 2 141202236 141202236 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:141202236C>T ENST00000389484.3 - 64 11041 c.10070G>A c.(10069-10071)tGt>tAt p.C3357Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3357 LDL-receptor class A 22. 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) GCCTGGCTGACATCTAAATTC 0.408000 TSP Lung(27;0.18) 14 32 0 0 0.020292 0 0 TRAJ16 28739 broad.mit.edu 37 14 22997530 22997530 + RNA SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:22997530G>A ENST00000390521.1 + 0 44 GGGGAACCATGTTAAAGGTGG 0.368000 5 4 0 0 0.014758 0 0 MUC4 4585 broad.mit.edu 37 3 195515449 195515449 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:195515449A>T ENST00000463781.3 - 2 3461 c.3002T>A c.(3001-3003)gTa>gAa p.V1001E MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1006 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.V1001A(1)|p.V1001E(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGC 0.587000 3 14 0 0 0.009096 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6723 6723 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrM:6723G>A ENST00000361624.2 + 1 820 c.820G>A c.(820-822)Gtc>Atc p.274_274insI mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 ACATAGGTATGGTCTGAGCTA 0.388000 11 516 0 0 0.024245 0 0 BAGE2 85319 broad.mit.edu 37 21 11039127 11039127 + RNA SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:11039127C>A ENST00000470054.1 - 0 1076 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AACTGTTCCTCAGGACATAAT 0.398000 7 219 0.0381472 0.0397096 0.038147 1 0 MRO 83876 broad.mit.edu 37 18 48325711 48325711 + Missense_Mutation SNP A A C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:48325711A>C ENST00000428869.2 - 9 1001 c.743T>G c.(742-744)cTg>cGg p.L248R MRO_ENST00000431965.2_Missense_Mutation_p.L210R|MRO_ENST00000398439.3_Missense_Mutation_p.L248R|MRO_ENST00000588444.1_Missense_Mutation_p.L196R|MRO_ENST00000256425.2_Missense_Mutation_p.L248R|MRO_ENST00000436348.2_Missense_Mutation_p.L262R Q9BYG7 MSTRO_HUMAN maestro 248 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) CTGCGCTTACAGAATTTTATT 0.463000 7 57 0 0 0.047766 0 0 IGDCC3 9543 broad.mit.edu 37 15 65667437 65667437 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:65667437G>T ENST00000327987.4 - 2 658 c.407C>A c.(406-408)gCa>gAa p.A136E NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 136 Ig-like C2-type 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCACTTACTTGCAGCTTGGAT 0.582000 15 37 1.5739e-10 2.06025e-10 0.028581 1 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647353 33647353 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:33647353C>T ENST00000558425.1 - 2 246 c.247G>A c.(247-249)Gtg>Atg p.V83M CGGCCCTTCACAGAGTCTGCG 0.502000 34 167 0 0 0.080422 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303501 151303501 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:151303501C>A ENST00000370323.4 - 4 908 c.592G>T c.(592-594)Ggc>Tgc p.G198C MAGEA10_ENST00000244096.3_Missense_Mutation_p.G198C|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 198 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AAGGAGTGGCCAGTGGGATCC 0.488000 9 45 2.17888e-05 2.50776e-05 0.058154 1 0 OTUD7B 56957 broad.mit.edu 37 1 149943154 149943154 + Silent SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:149943154G>A ENST00000369135.3 - 3 405 c.111C>T c.(109-111)gcC>gcT p.A37A OTUD7B_ENST00000479905.1_5'UTR NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 37 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) AATCACTGAGGGCGGCATTCA 0.463000 7 83 0 0 0.047766 0 0 PUF60 22827 broad.mit.edu 37 8 144898802 144898802 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:144898802G>A ENST00000526683.1 - 12 2123 c.1568C>T c.(1567-1569)tCt>tTt p.S523F PUF60_ENST00000527197.1_Missense_Mutation_p.S477F|PUF60_ENST00000456095.2_Missense_Mutation_p.S494F|PUF60_ENST00000349157.6_Missense_Mutation_p.S506F|PUF60_ENST00000453551.2_Missense_Mutation_p.S480F|PUF60_ENST00000313352.7_Missense_Mutation_p.S463F NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 523 Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ATGAGTCTCAGAGGCTATGGA 0.527000 4 23 0 0 0.009096 0 0 BEND2 139105 broad.mit.edu 37 X 18213466 18213466 + Missense_Mutation SNP G G T rs28496595 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:18213466G>T ENST00000380033.4 - 7 1262 c.1130C>A c.(1129-1131)aCg>aAg p.T377K BEND2_ENST00000380030.3_Intron NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 377 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TGGGGCACTCGTATTTCCCGA 0.393000 10 38 9.70103e-10 1.24844e-09 0.069234 1 0 NLRP6 171389 broad.mit.edu 37 11 282701 282701 + Splice_Site SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:282701G>T ENST00000312165.5 + 5 2105 c.e5-1 NLRP6_ENST00000534750.1_Intron NM_138329.1 NP_612202.2 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CTCTCTCCCAGCAGTTCTCAA 0.572000 8 9 0.0581538 0.0603296 0.058154 1 0 RHPN2 85415 broad.mit.edu 37 19 33517420 33517420 + Translation_Start_Site SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:33517420G>C ENST00000400226.4 - 0 339 RHPN2_ENST00000254260.3_Missense_Mutation_p.Q102E Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TCTGTGTTCTGATAGACGCCC 0.562000 69 90 0 0 0.048971 0 0 ROR1 4919 broad.mit.edu 37 1 64515390 64515390 + Missense_Mutation SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:64515390T>A ENST00000371079.1 + 3 566 c.191T>A c.(190-192)aTg>aAg p.M64K ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.M64K NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 64 Ig-like C2-type. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 GATGAACCAATGAATAACATC 0.537000 53 149 0 0 0.048971 0 0 SELL 6402 broad.mit.edu 37 1 169677935 169677935 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:169677935G>T ENST00000236147.4 - 3 294 c.134C>A c.(133-135)gCa>gAa p.A45E C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 32 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TCCATGATGTGCCAGGAAATC 0.428000 6 16 4.096e-09 5.18373e-09 0.021553 1 0 CNR1 1268 broad.mit.edu 37 6 88854039 88854039 + Missense_Mutation SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:88854039T>A ENST00000537554.1 - 2 4517 c.955A>T c.(955-957)Atc>Ttc p.I319F CNR1_ENST00000535130.1_Missense_Mutation_p.I319F|CNR1_ENST00000428600.2_Missense_Mutation_p.I319F|CNR1_ENST00000549716.1_Missense_Mutation_p.I258F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.I319F|CNR1_ENST00000369499.2_Missense_Mutation_p.I319F|CNR1_ENST00000549890.1_Missense_Mutation_p.I319F|CNR1_ENST00000468898.1_Missense_Mutation_p.I286F NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 319 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GACGTGTGGATGATGATGCTC 0.547000 25 48 0 0 0.034045 0 0 ZNF839 55778 broad.mit.edu 37 14 102792955 102792955 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:102792955C>T ENST00000262236.5 + 2 929 c.574C>T c.(574-576)Ctg>Ttg p.L192L ZNF839_ENST00000558850.1_Silent_p.L192L|ZNF839_ENST00000442396.2_Silent_p.L308L|ZNF839_ENST00000559185.1_Silent_p.L192L NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 192 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GAGCTGCTCCCTGAGGCCCAA 0.478000 13 35 0 0 0.020292 0 0 USP19 10869 broad.mit.edu 37 3 49153944 49153944 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:49153944C>A ENST00000453664.1 - 8 1511 c.1193G>T c.(1192-1194)tGc>tTc p.C398F USP19_ENST00000417901.1_Missense_Mutation_p.C408F|USP19_ENST00000398888.2_Missense_Mutation_p.C307F|USP19_ENST00000398892.3_Missense_Mutation_p.C345F|USP19_ENST00000398896.1_Missense_Mutation_p.C113F|USP19_ENST00000398898.2_Missense_Mutation_p.C345F|USP19_ENST00000434032.2_Missense_Mutation_p.C408F NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 307 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGTGTCCCTGCAGATCTCCTT 0.542000 18 37 1.99824e-07 2.45751e-07 0.033300 1 0 SLIT3 6586 broad.mit.edu 37 5 168244331 168244331 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:168244331A>T ENST00000519560.1 - 8 1186 c.767T>A c.(766-768)gTg>gAg p.V256E SLIT3_ENST00000404867.3_Missense_Mutation_p.V256E|SLIT3_ENST00000332966.8_Missense_Mutation_p.V256E NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 256 LRRCT 1. 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) CTTCTTCTGCACATCCGCCAC 0.592000 12 22 0 0 0.105934 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055488 72055488 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:72055488G>A ENST00000555818.1 + 2 1247 c.899G>A c.(898-900)cGc>cAc p.R300H SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R300H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R300H NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 300 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CGTAAATTGCGCAATGCCAAA 0.443000 4 85 0 0 0.009096 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156727536 156727536 + Splice_Site SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:156727536A>T ENST00000264424.8 + 14 1918 c.e14-1 GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) TGCCTATTTAAGGAAACAAAG 0.388000 4 19 0 0 0.014758 0 0 OR4K17 390436 broad.mit.edu 37 14 20586108 20586108 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:20586108C>A ENST00000315543.4 + 1 543 c.543C>A c.(541-543)ctC>ctA p.L181L NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CCTCATGGCTCTTGGGTCTCC 0.458000 33 53 3.80469e-20 5.37237e-20 0.041601 1 0 OPN3 23596 broad.mit.edu 37 1 241767797 241767797 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:241767797C>A ENST00000366554.2 - 2 564 c.458G>T c.(457-459)tGg>tTg p.W153L OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 153 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CCTCCAGGCCCAGGAAAAATT 0.537000 12 50 0.000151284 0.000170265 0.105934 1 0 TGFBR2 7048 broad.mit.edu 37 3 30686295 30686295 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:30686295T>C ENST00000295754.5 + 2 533 c.151T>C c.(151-153)Tgt>Cgt p.C51R TGFBR2_ENST00000359013.4_Missense_Mutation_p.C76R NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 51 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 TCCACAACTGTGTAAATTTTG 0.423000 19 30 0 0 0.055883 0 0 PRKACB 5567 broad.mit.edu 37 1 84668410 84668410 + Missense_Mutation SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:84668410C>G ENST00000370689.2 + 8 951 c.687C>G c.(685-687)atC>atG p.I229M PRKACB_ENST00000370688.3_Missense_Mutation_p.I229M|PRKACB_ENST00000370685.3_Missense_Mutation_p.I276M|PRKACB_ENST00000370682.3_Missense_Mutation_p.I233M|PRKACB_ENST00000370680.1_Missense_Mutation_p.I235M|PRKACB_ENST00000394839.2_Missense_Mutation_p.I199M|PRKACB_ENST00000394838.2_Missense_Mutation_p.I236M NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 229 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) GAGTGCTAATCTATGAAATGG 0.368000 6 109 0 0 0.069234 0 0 PCLO 27445 broad.mit.edu 37 7 82585848 82585848 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:82585848T>C ENST00000423517.2 - 5 4758 c.4421A>G c.(4420-4422)gAa>gGa p.E1474G PCLO_ENST00000333891.8_Missense_Mutation_p.E1474G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1405 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCTTTCCTTTCTTCTTGACT 0.363000 25 49 0 0 0.108266 0 0 OR5D18 219438 broad.mit.edu 37 11 55587309 55587309 + Silent SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:55587309C>G ENST00000333976.4 + 1 224 c.204C>G c.(202-204)tcC>tcG p.S68S NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GCCAACTCTCCTTTGTGGATT 0.413000 44 128 0 0 0.039052 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862844 10862844 + RNA SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:10862844C>A ENST00000559480.1 + 0 140 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TCTGGATACACCATCACCAGC 0.577000 28 154 3.99451e-17 5.53784e-17 0.041601 1 0 EHMT1 79813 broad.mit.edu 37 9 140693353 140693353 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:140693353A>T ENST00000460843.1 + 17 2621 c.2594A>T c.(2593-2595)gAc>gTc p.D865V NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 865 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GGACAGATGGACGTCAACTGT 0.552000 19 39 0 0 0.049695 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717204 13717204 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:13717204G>T ENST00000279593.3 - 13 3177 c.2968C>A c.(2968-2970)Cgg>Agg p.R990R NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 990 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTATGGGGCCGGTGGTGATGG 0.552000 22 51 9.95505e-16 1.35549e-15 0.069288 1 0 INSRR 3645 broad.mit.edu 37 1 156812204 156812204 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:156812204G>A ENST00000368195.3 - 18 3619 c.3223C>T c.(3223-3225)Cgg>Tgg p.R1075W NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1075 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTCAGGCCGCAAAGATCGA 0.602000 4 182 0 0 0.009096 0 0 RYR2 6262 broad.mit.edu 37 1 237947057 237947057 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:237947057A>T ENST00000366574.2 + 90 12362 c.12045A>T c.(12043-12045)aaA>aaT p.K4015N RYR2_ENST00000360064.6_Missense_Mutation_p.K4021N|RYR2_ENST00000542537.1_Missense_Mutation_p.K3999N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4015 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) TGATTCTCAAATTTTTTGACA 0.403000 9 24 0 0 0.069234 0 0 DST 667 broad.mit.edu 37 6 56371575 56371575 + Missense_Mutation SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:56371575C>G ENST00000370754.5 - 76 19158 c.19159G>C c.(19159-19161)Gaa>Caa p.E6387Q DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Missense_Mutation_p.E4121Q|DST_ENST00000370788.2_Missense_Mutation_p.E4012Q|DST_ENST00000446842.2_Missense_Mutation_p.E5883Q|DST_ENST00000361203.3_Missense_Mutation_p.E6098Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.E3795Q|DST_ENST00000370769.4_Missense_Mutation_p.E6209Q Q03001 DYST_HUMAN dystonin 6207 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCATCTATTTCTTCCCTTATG 0.368000 26 56 0 0 0.034045 0 0 SPAG17 200162 broad.mit.edu 37 1 118693248 118693248 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:118693248T>C ENST00000336338.5 - 3 298 c.233A>G c.(232-234)aAt>aGt p.N78S NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 78 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATTTATTTCATTAATCTGTAA 0.284000 5 20 0 0 0.014758 0 0 SEC63 11231 broad.mit.edu 37 6 108227934 108227934 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:108227934T>C ENST00000369002.4 - 9 960 c.781A>G c.(781-783)Aat>Gat p.N261D NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 261 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) GCATCTTTATTATACTGAGGA 0.343000 32 81 0 0 0.050027 0 0 IGSF9 57549 broad.mit.edu 37 1 159897588 159897588 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:159897588G>A ENST00000368094.1 - 20 3517 c.3320C>T c.(3319-3321)gCc>gTc p.A1107V IGSF9_ENST00000361509.3_Missense_Mutation_p.A1091V|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1107 cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CCGGGAGCTGGCCAAGCCCAG 0.577000 4 85 0 0 0.009096 0 0 ALMS1 7840 broad.mit.edu 37 2 73677777 73677777 + Missense_Mutation SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:73677777A>G ENST00000264448.6 + 8 4231 c.4120A>G c.(4120-4122)Act>Gct p.T1374A ALMS1_ENST00000409009.1_Missense_Mutation_p.T1332A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1374A NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1374 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.T1374A(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAACTGTAACCTC 0.443000 3 54 0 0 0.004672 0 0 TMEM190 147744 broad.mit.edu 37 19 55889560 55889560 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:55889560G>C ENST00000291934.3 + 5 541 c.523G>C c.(523-525)Gag>Cag p.E175Q NM_139172.1 NP_631911.1 Q8WZ59 TM190_HUMAN transmembrane protein 190 175 Poly-Glu. integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) gggcgaggaagaggaggatta 0.637000 24 35 0 0 0.091800 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506136 44506136 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:44506136C>T ENST00000255152.2 + 2 1148 c.939C>T c.(937-939)ctC>ctT p.L313L ZSWIM3_ENST00000454862.2_Silent_p.L307L NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 313 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) CAACCCGACTCTTGGAGAAGA 0.522000 9 57 0 0 0.058154 0 0 NR5A2 2494 broad.mit.edu 37 1 200017310 200017310 + Silent SNP C C T rs151039307 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:200017310C>T ENST00000367362.3 + 5 720 c.474C>T c.(472-474)gcC>gcT p.A158A NR5A2_ENST00000544748.1_Silent_p.A86A|NR5A2_ENST00000236914.3_Silent_p.A112A NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 158 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CTGTAAGGGCCGACCGAATGC 0.463000 13 52 0 0 0.105934 0 0 MYH13 8735 broad.mit.edu 37 17 10209812 10209812 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:10209812C>T ENST00000418404.3 - 36 5593 c.5430G>A c.(5428-5430)aaG>aaA p.K1810K MYH13_ENST00000252172.4_Silent_p.K1810K|MYH13_ENST00000570743.1_Silent_p.K1810K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1810 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCTTCCCGCCCTTCAGCGCCA 0.552000 50 135 0 0 0.048971 0 0 PANX1 24145 broad.mit.edu 37 11 93886744 93886744 + Missense_Mutation SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:93886744A>G ENST00000227638.3 + 2 654 c.269A>G c.(268-270)cAg>cGg p.Q90R PANX1_ENST00000436171.2_Missense_Mutation_p.Q90R NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 90 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCTGTTCAGCAGAAGAACTCA 0.463000 5 27 0 0 0.029380 0 0 ACSS1 84532 broad.mit.edu 37 20 24994697 24994697 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:24994697A>T ENST00000537502.1 - 7 2634 c.1103T>A c.(1102-1104)aTc>aAc p.I368N ACSS1_ENST00000542618.1_Missense_Mutation_p.I330N|ACSS1_ENST00000432802.2_Missense_Mutation_p.I451N|ACSS1_ENST00000323482.4_Missense_Mutation_p.I451N Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 451 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGCGATGCAGATGCCACCTGT 0.577000 4 9 0 0 0.021553 0 0 MYH6 4624 broad.mit.edu 37 14 23858085 23858085 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:23858085C>T ENST00000405093.3 - 29 4228 c.4158G>A c.(4156-4158)gaG>gaA p.E1386E MYH6_ENST00000356287.3_Silent_p.E1386E NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1386 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTCGAGCTCCTCAGTCCGCT 0.617000 29 62 0 0 0.041601 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566162 155566162 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:155566162A>T ENST00000295101.2 + 2 1227 c.750A>T c.(748-750)gaA>gaT p.E250D KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 250 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ACCAACTTGAACTGGATGTAG 0.453000 10 59 0 0 0.069234 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3380 3380 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrM:3380G>A ENST00000361390.2 + 1 74 c.74G>A c.(73-75)cGa>cAa p.25_25insQ mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 GCTTACCGAACGAAAAATTCT 0.463000 13 818 0 0 0.105934 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065043 55065043 + RNA SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:55065043G>T ENST00000526016.1 - 0 382 NR_038174.2 TTTTTTTTAGGAGCTCCTCCT 0.393000 7 19 0.00198382 0.00217649 0.029380 1 0 NRP2 8828 broad.mit.edu 37 2 206590699 206590699 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:206590699G>T ENST00000360409.3 + 6 1674 c.883G>T c.(883-885)Gcc>Tcc p.A295S NRP2_ENST00000357118.4_Missense_Mutation_p.A295S|NRP2_ENST00000540841.1_Missense_Mutation_p.A295S|NRP2_ENST00000540178.1_Missense_Mutation_p.A295S|NRP2_ENST00000417189.1_Missense_Mutation_p.A295S|NRP2_ENST00000355117.4_Missense_Mutation_p.A295S|NRP2_ENST00000272849.3_Missense_Mutation_p.A295S|NRP2_ENST00000412873.2_Missense_Mutation_p.A295S|NRP2_ENST00000357785.5_Missense_Mutation_p.A295S NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 295 F5/8 type C 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 ACAGATCAGTGCCTCATCTAC 0.527000 10 48 0.00829132 0.00896756 0.069234 1 0 OR10Q1 219960 broad.mit.edu 37 11 57995621 57995621 + Missense_Mutation SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:57995621A>G ENST00000316770.2 - 1 769 c.727T>C c.(727-729)Ttc>Ctc p.F243L NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CAGGTGGAGAAGGCCCGGCGG 0.632000 9 38 0 0 0.028581 0 0 UBOX5 22888 broad.mit.edu 37 20 3095974 3095974 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:3095974G>T ENST00000217173.2 - 4 1865 c.1394C>A c.(1393-1395)tCc>tAc p.S465Y UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron NM_001267584.1|NM_014948.3 NP_001254513.1|NP_055763.1 O94941 RNF37_HUMAN U-box domain containing 5 465 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 20 AGGCCTCCAGGAAGTGTTGCT 0.612000 OREG0025729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 30 0.0381472 0.0397096 0.038147 1 0 OBSCN 84033 broad.mit.edu 37 1 228509046 228509046 + Splice_Site SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:228509046T>C ENST00000570156.2 + 66 17449 c.17373_splice c.e66-1 p.V5792_splice OBSCN_ENST00000422127.1_Splice_Site_p.V4835_splice|OBSCN_ENST00000366707.4_Splice_Site_p.V2469_splice|OBSCN_ENST00000366709.4_Splice_Site_p.V1954_splice|OBSCN_ENST00000284548.11_Splice_Site_p.V4835_splice NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4835 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGCCCACAGGTTGGGGCCCCA 0.632000 3 3 0 0 0.009096 0 0 TAF1A 9015 broad.mit.edu 37 1 222742739 222742739 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:222742739T>C ENST00000543857.1 - 8 1130 c.922A>G c.(922-924)Agt>Ggt p.S308G TAF1A_ENST00000350027.4_Intron|TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000352967.4_Intron Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 0 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) CTCAGTGTACTGTACATTATT 0.418000 4 15 0 0 0.009096 0 0 RBM48 84060 broad.mit.edu 37 7 92158932 92158932 + Missense_Mutation SNP A A C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:92158932A>C ENST00000481551.1 + 2 295 c.254A>C c.(253-255)gAc>gCc p.D85A RBM48_ENST00000265732.5_Missense_Mutation_p.D85A Q5RL73 CG064_HUMAN RNA binding motif protein 48 85 nucleotide binding CCAGCAGAAGACTTTACTGAA 0.358000 6 14 0 0 0.029380 0 0 C17orf97 400566 broad.mit.edu 37 17 263456 263456 + Silent SNP T T C rs71369086 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:263456T>C ENST00000360127.6 + 2 838 c.822T>C c.(820-822)ggT>ggC p.G274G AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 304 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCTCAAGGGTTTCCACACTG 0.682000 3 15 0 0 0.004672 0 0 COPB1 1315 broad.mit.edu 37 11 14496148 14496148 + Nonsense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:14496148C>A ENST00000249923.3 - 14 1930 c.1630G>T c.(1630-1632)Gga>Tga p.G544* COPB1_ENST00000439561.2_Nonsense_Mutation_p.G544*|COPB1_ENST00000526191.1_5'UTR NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 544 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 AGAAGGAATCCTCTCAAGGGA 0.433000 22 124 3.62473e-10 4.72454e-10 0.062417 1 0 ATP1A4 480 broad.mit.edu 37 1 160143392 160143392 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:160143392C>A ENST00000368081.4 + 13 2347 c.1876C>A c.(1876-1878)Cat>Aat p.H626N ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 626 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACAGGAGATCATCCCATTAC 0.522000 40 115 3.54909e-21 5.08203e-21 0.042209 1 0 CCDC172 374355 broad.mit.edu 37 10 118138001 118138001 + Silent SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:118138001A>G ENST00000333254.3 + 8 971 c.720A>G c.(718-720)acA>acG p.T240T NM_198515.2 NP_940917.1 coiled-coil domain containing 172 CTCTCCAAACAGAAATAGAAT 0.289000 5 6 0 0 0.014758 0 0 WDR16 146845 broad.mit.edu 37 17 9538770 9538770 + Missense_Mutation SNP C C A rs140517505 byFrequency TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:9538770C>A ENST00000352665.5 + 11 1438 c.1369C>A c.(1369-1371)Ctg>Atg p.L457M WDR16_ENST00000396219.3_Missense_Mutation_p.L389M|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Missense_Mutation_p.L467M NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 457 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GGAGGAGGCCCTGAAGGAACA 0.537000 11 21 1.58986e-06 1.90909e-06 0.069234 1 0 C6orf222 389384 broad.mit.edu 37 6 36287308 36287308 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:36287308C>A ENST00000437635.2 - 11 1925 c.1748G>T c.(1747-1749)cGc>cTc p.R583L NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 583 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CACCTGGCTGCGCAGGGTGGC 0.532000 17 82 2.4624e-09 3.1293e-09 0.049695 1 0 PPAT 5471 broad.mit.edu 37 4 57301533 57301533 + Silent SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:57301533G>C ENST00000264220.2 - 1 248 c.111C>G c.(109-111)ctC>ctG p.L37L NM_002703.4 NP_002694.3 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 37 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 20 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) GCAGCCCCACGAGTCCCAGAG 0.657000 6 31 0 0 0.029380 0 0 UPF2 26019 broad.mit.edu 37 10 12043820 12043820 + Silent SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:12043820T>A ENST00000356352.2 - 5 1982 c.1509A>T c.(1507-1509)gcA>gcT p.A503A UPF2_ENST00000357604.5_Silent_p.A503A|UPF2_ENST00000397053.2_Silent_p.A503A Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 503 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TAGATTCTTTTGCCTCTGTTG 0.353000 3 9 0 0 0.004672 0 0 COL4A1 1282 broad.mit.edu 37 13 110814736 110814736 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr13:110814736C>A ENST00000375820.4 - 48 4424 c.4303G>T c.(4303-4305)Ggg>Tgg p.G1435W COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1435 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGGGGGCCCCATGGATCCT 0.512000 90 141 5.19266e-41 7.72567e-41 0.048971 1 0 NRP2 8828 broad.mit.edu 37 2 206590698 206590698 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:206590698T>C ENST00000360409.3 + 6 1673 c.882T>C c.(880-882)agT>agC p.S294S NRP2_ENST00000357118.4_Silent_p.S294S|NRP2_ENST00000540841.1_Silent_p.S294S|NRP2_ENST00000540178.1_Silent_p.S294S|NRP2_ENST00000417189.1_Silent_p.S294S|NRP2_ENST00000355117.4_Silent_p.S294S|NRP2_ENST00000272849.3_Silent_p.S294S|NRP2_ENST00000412873.2_Silent_p.S294S|NRP2_ENST00000357785.5_Silent_p.S294S NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 294 F5/8 type C 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 AACAGATCAGTGCCTCATCTA 0.527000 10 47 0 0 0.069234 0 0 EDAR 10913 broad.mit.edu 37 2 109513583 109513583 + Missense_Mutation SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:109513583T>G ENST00000409271.1 - 12 1666 c.1223A>C c.(1222-1224)cAc>cCc p.H408P EDAR_ENST00000376651.1_Missense_Mutation_p.H408P|EDAR_ENST00000258443.2_Missense_Mutation_p.H376P Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 376 Death. I -> F (in EDA). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CTCGGCGAGGTGGCGCCACGT 0.572000 15 40 0 0 0.043863 0 0 DENND2C 163259 broad.mit.edu 37 1 115151428 115151428 + Missense_Mutation SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:115151428T>A ENST00000393274.1 - 10 2061 c.1436A>T c.(1435-1437)gAg>gTg p.E479V DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.E422V|DENND2C_ENST00000393277.1_Missense_Mutation_p.E479V NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 479 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGATCCCGCTCCAAGGTCTG 0.433000 10 25 0 0 0.058154 0 0 ZNF831 128611 broad.mit.edu 37 20 57769599 57769599 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:57769599C>A ENST00000371030.2 + 1 3525 c.3525C>A c.(3523-3525)ccC>ccA p.P1175P NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1175 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ACCCCTTTCCCTCACTGAAGG 0.662000 12 24 2.27111e-07 2.78188e-07 0.093190 1 0 SEMG1 6406 broad.mit.edu 37 20 43836133 43836133 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:43836133T>C ENST00000372781.3 + 2 252 c.195T>C c.(193-195)atT>atC p.I65I SEMG1_ENST00000244069.6_Silent_p.I65I NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) GTTTTTCTATTCAATACACAT 0.398000 8 74 0 0 0.038147 0 0 WDR73 84942 broad.mit.edu 37 15 85197493 85197493 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:85197493C>A ENST00000434634.2 - 1 73 c.13G>T c.(13-15)Gac>Tac p.D5Y WDR73_ENST00000398528.3_5'UTR NM_032856.2 NP_116245.2 Q6P4I2 WDR73_HUMAN WD repeat domain 73 5 cervix(1)|large_intestine(1)|lung(1) 3 AGCCAGTCGTCCCCAGGATCC 0.677000 16 43 2.12542e-12 2.80628e-12 0.030593 1 0 KCTD19 146212 broad.mit.edu 37 16 67354623 67354623 + Missense_Mutation SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:67354623C>G ENST00000304372.5 - 2 224 c.169G>C c.(169-171)Gac>Cac p.D57H KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 57 BTB 1. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CCATCTCTGTCGATAAATAGC 0.478000 9 35 0 0 0.047766 0 0 COL27A1 85301 broad.mit.edu 37 9 116931659 116931659 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:116931659C>A ENST00000356083.3 + 3 2215 c.1824C>A c.(1822-1824)ggC>ggA p.G608G NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 608 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CGAGCAGTGGCTATTCGATCT 0.657000 7 16 2.17888e-05 2.50776e-05 0.058154 1 0 ZNF709 163051 broad.mit.edu 37 19 12575977 12575977 + Missense_Mutation SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:12575977T>G ENST00000397732.3 - 4 930 c.759A>C c.(757-759)gaA>gaC p.E253D CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E253D NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 ATTGTTTACATTCATAGGGTT 0.383000 14 22 0 0 0.020292 0 0 HTR5A 3361 broad.mit.edu 37 7 154876127 154876127 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:154876127C>A ENST00000287907.2 + 2 1580 c.1004C>A c.(1003-1005)cCc>cAc p.P335H HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 335 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TTCTTTAACCCCCTGATCTAT 0.483000 29 70 3.17567e-06 3.76879e-06 0.037714 1 0 PRMT6 55170 broad.mit.edu 37 1 107600087 107600087 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:107600087G>T ENST00000361318.5 + 1 821 c.573G>T c.(571-573)ccG>ccT p.P191P PRMT6_ENST00000370078.1_Silent_p.P250P NM_018137.2 NP_060607.2 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 250 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) TGGCCCGGCCGCAGCGCTTTG 0.692000 14 35 1.49906e-05 1.74509e-05 0.020292 1 0 LRRC7 57554 broad.mit.edu 37 1 70478656 70478656 + Splice_Site SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:70478656G>C ENST00000310961.5 + 14 1453 c.e14-1 LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GTTACCTACAGATTGGAAGTT 0.279000 6 35 0 0 0.021553 0 0 ATR 545 broad.mit.edu 37 3 142281289 142281289 + Missense_Mutation SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:142281289T>A ENST00000350721.4 - 4 1076 c.955A>T c.(955-957)Aat>Tat p.N319Y ATR_ENST00000383101.3_Missense_Mutation_p.N319Y NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 319 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 AGCAGCATATTTAAATAGACA 0.378000 Other conserved DNA damage response genes 11 18 0 0 0.093190 0 0 UNC13A 23025 broad.mit.edu 37 19 17785516 17785516 + Silent SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:17785516C>G ENST00000428389.2 - 4 365 c.366G>C c.(364-366)acG>acC p.T122T UNC13A_ENST00000552293.1_Silent_p.T34T|UNC13A_ENST00000519716.2_Silent_p.T34T|UNC13A_ENST00000551649.1_Silent_p.T34T|UNC13A_ENST00000252773.7_Silent_p.T34T|UNC13A_ENST00000550896.1_Silent_p.T34T Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 34 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CCGCGATGGTCGTGCTCTTGA 0.587000 13 31 0 0 0.093190 0 0 PHKA2 5256 broad.mit.edu 37 X 18926946 18926946 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:18926946T>C ENST00000379942.4 - 21 2998 c.2333A>G c.(2332-2334)gAc>gGc p.D778G NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 778 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GTACAGAATGTCTGCTTGGTC 0.428000 21 55 0 0 0.062417 0 0 POPDC3 64208 broad.mit.edu 37 6 105607676 105607676 + Silent SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:105607676A>G ENST00000254765.3 - 3 782 c.504T>C c.(502-504)gaT>gaC p.D168D POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 168 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) GAAATTCGCCATCAACTGTCA 0.458000 9 23 0 0 0.069234 0 0 RIF1 55183 broad.mit.edu 37 2 152320281 152320281 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:152320281G>T ENST00000243326.4 + 29 4730 c.4247G>T c.(4246-4248)cGg>cTg p.R1416L RIF1_ENST00000430328.2_Missense_Mutation_p.R1416L|RIF1_ENST00000428287.2_Missense_Mutation_p.R1416L|RIF1_ENST00000444746.2_Missense_Mutation_p.R1416L|RIF1_ENST00000453091.2_Missense_Mutation_p.R1416L Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1416 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ACCCTTAGACGGTCTTCAAGG 0.393000 5 35 0.014758 0.015575 0.014758 1 0 OR11L1 391189 broad.mit.edu 37 1 248004584 248004584 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:248004584G>T ENST00000355784.2 - 1 670 c.615C>A c.(613-615)gcC>gcA p.A205A NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGCACAGCACGGCAATTGACA 0.473000 43 124 2.95478e-19 4.15303e-19 0.104719 1 0 MUC7 4589 broad.mit.edu 37 4 71347033 71347033 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:71347033C>T ENST00000413702.1 + 4 860 c.572C>T c.(571-573)gCc>gTc p.A191V MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000304887.5_Missense_Mutation_p.A191V NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 191 Thr-rich. extracellular region protein binding p.A191V(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCACAGCTGCCCCACCCACA 0.587000 4 130 0 0 0.021553 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428759 190428759 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:190428759T>C ENST00000261024.2 - 7 1379 c.953A>G c.(952-954)tAt>tGt p.Y318C NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 318 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) GACAGTCATATAAAGGAAAGC 0.527000 6 27 0 0 0.038147 0 0 CPN1 1369 broad.mit.edu 37 10 101829549 101829549 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:101829549G>T ENST00000370418.3 - 3 749 c.498C>A c.(496-498)ctC>ctA p.L166L NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 166 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TATAGGTATTGAGATCAGGGA 0.463000 26 40 5.09552e-08 6.3694e-08 0.045705 1 0 ZNF536 9745 broad.mit.edu 37 19 30935619 30935619 + Nonsense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:30935619G>T ENST00000355537.3 + 2 1297 c.1150G>T c.(1150-1152)Gag>Tag p.E384* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 384 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) GCGCTTCAAGGAGCCCTGGTT 0.607000 31 50 2.61193e-14 3.49403e-14 0.041601 1 0 DNAAF3 352909 broad.mit.edu 37 19 55670944 55670944 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:55670944C>T ENST00000527223.2 - 11 1397 c.1396G>A c.(1396-1398)Gcc>Acc p.A466T DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A446T|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A345T|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G60D|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A399T NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 399 GCCACACAGGCCCCAAGCTCA 0.587000 38 42 0 0 0.111260 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907125 164907125 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:164907125T>C ENST00000475390.1 - 2 1937 c.1494A>G c.(1492-1494)gcA>gcG p.A498A SLITRK3_ENST00000241274.3_Silent_p.A498A O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 498 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GGCTGAAGGCTGCAGGCTGGA 0.512000 HNSCC(40;0.11) 12 71 0 0 0.093190 0 0 RSPO4 343637 broad.mit.edu 37 20 948637 948637 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:948637G>T ENST00000217260.4 - 2 320 c.224C>A c.(223-225)cCt>cAt p.P75H RSPO4_ENST00000400634.2_Missense_Mutation_p.P75H NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 75 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GAAGTACCCAGGGGGACAGTC 0.602000 45 99 5.22555e-25 7.55353e-25 0.048971 1 0 DSG2 1829 broad.mit.edu 37 18 29122617 29122617 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:29122617C>T ENST00000261590.8 + 14 2345 c.2136C>T c.(2134-2136)tcC>tcT p.S712S RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 712 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) ATGAGATGTCCGAGATGGATG 0.507000 19 62 0 0 0.049695 0 0 NINL 22981 broad.mit.edu 37 20 25485523 25485523 + Splice_Site SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:25485523C>A ENST00000278886.6 - 6 782 c.e6+1 NINL_ENST00000422516.1_Splice_Site NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GTGCCCCTCACCTCTTTCTCG 0.622000 3 10 0.00909568 0.00969994 0.009096 1 0 CCDC172 374355 broad.mit.edu 37 10 118138000 118138000 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:118138000C>A ENST00000333254.3 + 8 970 c.719C>A c.(718-720)aCa>aAa p.T240K NM_198515.2 NP_940917.1 coiled-coil domain containing 172 GCTCTCCAAACAGAAATAGAA 0.289000 5 6 0.000602214 0.000670348 0.014758 1 0 SAAL1 113174 broad.mit.edu 37 11 18112007 18112007 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:18112007G>C ENST00000524803.1 - 5 496 c.447C>G c.(445-447)gaC>gaG p.D149E SAAL1_ENST00000300013.4_Missense_Mutation_p.D149E|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.D149E Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 149 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 GAGTAGGTGGGTCTGAATCAT 0.323000 3 16 0 0 0.004672 0 0 SGSM1 129049 broad.mit.edu 37 22 25264768 25264768 + Nonsense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr22:25264768G>T ENST00000400358.4 + 12 1294 c.1237G>T c.(1237-1239)Gag>Tag p.E413* SGSM1_ENST00000400359.4_Nonsense_Mutation_p.E413* NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 413 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AGATGATGATGAGGCCACGGA 0.537000 15 78 3.45872e-05 3.96582e-05 0.028581 1 0 OR5M11 219487 broad.mit.edu 37 11 56310716 56310716 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:56310716G>T ENST00000528616.2 - 1 41 c.18C>A c.(16-18)ggC>ggA p.G6G NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TGATTGCACTGCCATTTGTGT 0.403000 25 71 4.87955e-14 6.47071e-14 0.108266 1 0 XIRP2 129446 broad.mit.edu 37 2 168103983 168103983 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:168103983G>T ENST00000409195.1 + 9 6170 c.6081G>T c.(6079-6081)aaG>aaT p.K2027N XIRP2_ENST00000409273.1_Missense_Mutation_p.K1805N|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2027N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1852 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCACTGTAAAGATTGTCATAG 0.383000 17 45 2.4624e-09 3.1293e-09 0.049695 1 0 ZAN 7455 broad.mit.edu 37 7 100362997 100362997 + RNA SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:100362997C>A ENST00000542585.1 + 0 4438 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CGCCCAACAGCAAGTACTCCC 0.597000 4 50 3.59834e-05 4.11046e-05 0.021553 1 0 SLC6A12 6539 broad.mit.edu 37 12 311924 311924 + Missense_Mutation SNP T T C rs144464466 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:311924T>C ENST00000428720.1 - 5 1215 c.472A>G c.(472-474)Aac>Gac p.N158D SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000359674.4_Missense_Mutation_p.N158D|SLC6A12_ENST00000397296.2_Missense_Mutation_p.N158D|SLC6A12_ENST00000424061.2_Missense_Mutation_p.N158D|SLC6A12_ENST00000536824.1_Missense_Mutation_p.N158D NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 158 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) CAAAAGTTGTTGCAGGTCGTC 0.527000 12 29 0 0 0.020292 0 0 MYO1D 4642 broad.mit.edu 37 17 30932130 30932130 + Nonsense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:30932130C>A ENST00000318217.5 - 21 3143 c.2839G>T c.(2839-2841)Gga>Tga p.G947* MYO1D_ENST00000394649.4_Nonsense_Mutation_p.G859*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.G947* NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 947 myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) ACCAGCACTCCAACAAGTTCT 0.383000 6 19 0.0215528 0.0225897 0.021553 1 0 PDP1 54704 broad.mit.edu 37 8 94935198 94935198 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:94935198C>T ENST00000396200.3 + 3 1262 c.986C>T c.(985-987)tCa>tTa p.S329L PDP1_ENST00000517764.1_Missense_Mutation_p.S304L|PDP1_ENST00000297598.4_Missense_Mutation_p.S304L|PDP1_ENST00000520728.1_Missense_Mutation_p.S304L NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 304 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 GAGGACGGCTCATGGTCAGCA 0.517000 3 26 0 0 0.004672 0 0 CMYA5 202333 broad.mit.edu 37 5 79027236 79027236 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:79027236C>T ENST00000446378.2 + 2 2679 c.2648C>T c.(2647-2649)tCa>tTa p.S883L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 883 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GTTGTTCTATCAGACGAAGAG 0.493000 4 69 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9076923 9076923 + Missense_Mutation SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:9076923T>A ENST00000397910.4 - 3 10726 c.10523A>T c.(10522-10524)gAc>gTc p.D3508V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3509 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 AGGGGCAATGTCACTTTTCAC 0.512000 83 143 0 0 0.048971 0 0 GPR112 139378 broad.mit.edu 37 X 135432048 135432048 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:135432048T>C ENST00000394143.1 + 6 6474 c.6183T>C c.(6181-6183)tcT>tcC p.S2061S GPR112_ENST00000287534.4_Silent_p.S1998S|GPR112_ENST00000370652.1_Silent_p.S2061S|GPR112_ENST00000412101.1_Silent_p.S1856S|GPR112_ENST00000394141.1_Silent_p.S1856S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2061 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) CACTACCCTCTGCTACTATGA 0.438000 54 103 0 0 0.048971 0 0 DFNB31 25861 broad.mit.edu 37 9 117168637 117168637 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:117168637C>A ENST00000362057.3 - 9 2402 c.2234G>T c.(2233-2235)cGc>cTc p.R745L DFNB31_ENST00000374059.3_Missense_Mutation_p.R394L|DFNB31_ENST00000265134.6_Missense_Mutation_p.R362L NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 745 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTACTCACTGCGCGTCTGGGG 0.607000 15 31 1.01871e-10 1.33926e-10 0.049695 1 0 IKBIP 121457 broad.mit.edu 37 12 99019977 99019977 + Missense_Mutation SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:99019977C>G ENST00000299157.4 - 3 1238 c.865G>C c.(865-867)Gat>Cat p.D289H IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 290 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TCTATCAGATCCTGAGAGACT 0.373000 5 8 0 0 0.014758 0 0 ITPR2 3709 broad.mit.edu 37 12 26818887 26818887 + Nonsense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:26818887G>A ENST00000381340.3 - 14 1923 c.1507C>T c.(1507-1509)Cga>Tga p.R503* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 503 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGACGCTCTCGGTTTGGCTTA 0.338000 6 20 0 0 0.038147 0 0 TRIM54 57159 broad.mit.edu 37 2 27521582 27521582 + Missense_Mutation SNP G G A rs140219939 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:27521582G>A ENST00000296098.4 + 2 586 c.316G>A c.(316-318)Gac>Aac p.D106N TRIM54_ENST00000380075.2_Missense_Mutation_p.D106N NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 106 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAACATTATCGACATTTACAA 0.557000 7 16 0 0 0.029380 0 0 COL7A1 1294 broad.mit.edu 37 3 48607596 48607596 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:48607596G>A ENST00000328333.8 - 98 7563 c.7456C>T c.(7456-7458)Ccc>Tcc p.P2486S COL7A1_ENST00000454817.1_Missense_Mutation_p.P2454S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2486 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCCTGGCCGGGGCGGCCATCT 0.592000 6 17 0 0 0.038147 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378149 31378149 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:31378149T>C ENST00000297142.3 - 2 1056 c.734A>G c.(733-735)gAa>gGa p.E245G NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 245 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GGAAGTACTTTCATAGAAGGA 0.473000 15 54 0 0 0.024245 0 0 GALNT12 79695 broad.mit.edu 37 9 101599398 101599398 + Missense_Mutation SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:101599398C>G ENST00000375011.3 + 6 1180 c.1180C>G c.(1180-1182)Ctc>Gtc p.L394V NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 394 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) ATTTAAAGAGCTCTACTACCA 0.542000 73 165 0 0 0.048971 0 0 SLC5A8 160728 broad.mit.edu 37 12 101577946 101577946 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:101577946G>C ENST00000536262.2 - 8 1576 c.1018C>G c.(1018-1020)Ctt>Gtt p.L340V NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 340 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCCACAAAAAGTCCAGGAAGT 0.358000 8 42 0 0 0.069234 0 0 OR8D2 283160 broad.mit.edu 37 11 124189502 124189502 + Silent SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:124189502G>A ENST00000357438.2 - 1 682 c.592C>T c.(592-594)Ctg>Ttg p.L198L NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) ATGAACAGCAGAATCTCATTG 0.403000 32 80 0 0 0.041601 0 0 DNAH3 55567 broad.mit.edu 37 16 21051240 21051240 + Missense_Mutation SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:21051240A>G ENST00000261383.3 - 33 4663 c.4664T>C c.(4663-4665)aTg>aCg p.M1555T DNAH3_ENST00000415178.1_Missense_Mutation_p.M1555T NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1555 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATCTGGGACCATCATGGCCAC 0.478000 47 104 0 0 0.048971 0 0 LACC1 144811 broad.mit.edu 37 13 44455589 44455589 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr13:44455589A>T ENST00000441843.1 + 2 953 c.468A>T c.(466-468)gaA>gaT p.E156D LACC1_ENST00000325686.6_Missense_Mutation_p.E156D NM_001128303.1 NP_001121775.1 Q8IV20 CM031_HUMAN laccase (multicopper oxidoreductase) domain containing 1 156 CAGCTCAAGAACTAAGAGGAA 0.338000 6 35 0 0 0.029380 0 0 FLG 2312 broad.mit.edu 37 1 152283678 152283678 + Silent SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:152283678G>A ENST00000368799.1 - 3 3719 c.3684C>T c.(3682-3684)gaC>gaT p.D1228D FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1228 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGGAGCCGTCTCCTGATT 0.562000 Ichthyosis 124 211 0 0 0.048971 0 0 TNC 3371 broad.mit.edu 37 9 117848545 117848545 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:117848545C>T ENST00000350763.4 - 3 1876 c.1465G>A c.(1465-1467)Gac>Aac p.D489N TNC_ENST00000537320.1_Missense_Mutation_p.D489N|TNC_ENST00000345230.3_Missense_Mutation_p.D489N|TNC_ENST00000535648.1_Missense_Mutation_p.D489N|TNC_ENST00000341037.4_Missense_Mutation_p.D489N|TNC_ENST00000346706.3_Missense_Mutation_p.D489N|TNC_ENST00000340094.3_Missense_Mutation_p.D489N|TNC_ENST00000423613.2_Missense_Mutation_p.D489N|TNC_ENST00000542877.1_Missense_Mutation_p.D489N NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 489 EGF-like 11. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTGTAGCCGTCATCACAAACA 0.582000 32 96 0 0 0.039052 0 0 DNASE2B 58511 broad.mit.edu 37 1 84880433 84880433 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:84880433G>C ENST00000370665.3 + 6 1001 c.968G>C c.(967-969)gGa>gCa p.G323A DNASE2B_ENST00000370662.3_Missense_Mutation_p.G115A NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 323 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) ACATGTATTGGAGACCTAAAT 0.393000 8 25 0 0 0.047766 0 0 LRRK2 120892 broad.mit.edu 37 12 40761466 40761466 + Missense_Mutation SNP G G T rs150062967 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:40761466G>T ENST00000298910.7 + 51 7541 c.7483G>T c.(7483-7485)Gtt>Ttt p.V2495F NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2495 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.V2495I(1)|p.V2502I(1) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTGCTTGACCGTTTGGGACAT 0.308000 4 11 0.014758 0.015575 0.014758 1 0 NT5C3A 51251 broad.mit.edu 37 7 33057180 33057180 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:33057180T>C ENST00000396152.2 - 8 764 c.462A>G c.(460-462)caA>caG p.Q154Q NT5C3A_ENST00000381626.2_Silent_p.Q142Q|NT5C3A_ENST00000242210.7_Silent_p.Q193Q|NT5C3A_ENST00000405342.1_Silent_p.Q154Q|NT5C3A_ENST00000409787.1_Silent_p.Q154Q|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Silent_p.Q142Q NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA TGCTATGTTGTTGGAGCTTAT 0.378000 10 44 0 0 0.080935 0 0 DOCK10 55619 broad.mit.edu 37 2 225709558 225709558 + Splice_Site SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:225709558T>A ENST00000409592.3 - 22 2577 c.e22-2 DOCK10_ENST00000258390.7_Splice_Site Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CCCACCATGCTGCAAAATAAA 0.353000 5 8 0 0 0.014758 0 0 MMP9 4318 broad.mit.edu 37 20 44639914 44639914 + Missense_Mutation SNP A A G rs144229833 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:44639914A>G ENST00000372330.3 + 5 801 c.782A>G c.(781-783)aAc>aGc p.N261S NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 261 Fibronectin type-II 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) ACCACGGCCAACTACGACACC 0.677000 7 99 0 0 0.038147 0 0 IWS1 55677 broad.mit.edu 37 2 128255738 128255738 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:128255738C>T ENST00000295321.4 - 6 1802 c.1543G>A c.(1543-1545)Gat>Aat p.D515N AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Intron NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 515 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TTTATGTTATCATCAGAATCT 0.303000 4 27 0 0 0.009096 0 0 CPS1 1373 broad.mit.edu 37 2 211447412 211447412 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:211447412G>C ENST00000233072.5 + 6 796 c.600G>C c.(598-600)ttG>ttC p.L200F CPS1_ENST00000430249.2_Missense_Mutation_p.L206F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 200 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AACAGAATTTGATTGCTGAGG 0.323000 10 24 0 0 0.080935 0 0 COL15A1 1306 broad.mit.edu 37 9 101806867 101806867 + Silent SNP G G A rs138283764 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:101806867G>A ENST00000375001.3 + 25 3015 c.2592G>A c.(2590-2592)ccG>ccA p.P864P NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 864 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AGGGAGAGCCGGGTGCCATCC 0.517000 7 19 0 0 0.038147 0 0 CCDC33 80125 broad.mit.edu 37 15 74574148 74574148 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:74574148G>T ENST00000321288.5 + 12 1662 c.1662G>T c.(1660-1662)gaG>gaT p.E554D CCDC33_ENST00000398814.3_Missense_Mutation_p.E351D Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 554 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCAATGATGAGGCCCCCACAG 0.597000 21 67 1.5548e-18 2.17529e-18 0.108266 1 0 INHBA 3624 broad.mit.edu 37 7 41729684 41729684 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:41729684T>C ENST00000242208.4 - 3 1091 c.845A>G c.(844-846)gAt>gGt p.D282G INHBA_ENST00000442711.1_Missense_Mutation_p.D282G|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 282 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 cttttcctcatctgctcctgc 0.597000 TSP Lung(11;0.080) 14 30 0 0 0.020292 0 0 MYO16 23026 broad.mit.edu 37 13 109507808 109507808 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr13:109507808T>C ENST00000356711.2 + 11 1326 c.1200T>C c.(1198-1200)ccT>ccC p.P400P MYO16_ENST00000251041.5_Silent_p.P400P|MYO16_ENST00000357550.2_Silent_p.P400P NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 400 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TAATGCCTCCTGCCCCAAACG 0.458000 10 42 0 0 0.069234 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14851708 14851708 + Silent SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:14851708A>T ENST00000358984.4 + 36 3588 c.3408A>T c.(3406-3408)acA>acT p.T1136T NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1221 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AACAGAAAACAGTAACAAAAA 0.353000 6 20 0 0 0.021553 0 0 SCAND3 114821 broad.mit.edu 37 6 28543125 28543125 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:28543125T>C ENST00000452236.2 - 3 1974 c.1357A>G c.(1357-1359)Att>Gtt p.I453V NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 453 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TCTGGCCAAATATTACTGAGT 0.418000 4 15 0 0 0.014758 0 0 CXorf64 100130613 broad.mit.edu 37 X 125955417 125955417 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:125955417G>C ENST00000371125.3 + 2 876 c.796G>C c.(796-798)Gct>Cct p.A266P NM_001122716.1 NP_001116188.1 B1ATL7 CX064_HUMAN chromosome X open reading frame 64 266 Pro-rich. TCTTCCTTTTGCTCCTCCTCC 0.488000 9 14 0 0 0.069234 0 0 FRMD1 79981 broad.mit.edu 37 6 168479609 168479609 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:168479609C>T ENST00000283309.6 - 1 230 c.166G>A c.(166-168)Gtc>Atc p.V56I NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 56 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AGCACGAGGACATCCCTGTGT 0.667000 8 31 0 0 0.058154 0 0 IFNA16 3449 broad.mit.edu 37 9 21217301 21217301 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:21217301C>A ENST00000380216.1 - 1 9 c.4G>T c.(4-6)Gcc>Tcc p.A2S NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 2 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) AAGGACAGGGCCATTGGGATG 0.473000 20 44 1.28384e-07 1.58531e-07 0.062417 1 0 DMKN 93099 broad.mit.edu 37 19 36004272 36004272 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:36004272C>T ENST00000339686.3 - 1 282 c.106G>A c.(106-108)Ggg>Agg p.G36R DMKN_ENST00000418261.1_Missense_Mutation_p.G36R|DMKN_ENST00000419602.1_Missense_Mutation_p.G36R|DMKN_ENST00000429837.1_Missense_Mutation_p.G36R|DMKN_ENST00000424570.2_Missense_Mutation_p.G36R|DMKN_ENST00000451297.2_Missense_Mutation_p.G36R|DMKN_ENST00000447113.2_Missense_Mutation_p.G36R|DMKN_ENST00000440396.1_Missense_Mutation_p.G36R NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 36 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AGGGCCTCCCCAATATTTGTC 0.657000 19 27 0 0 0.076483 0 0 PSG5 5673 broad.mit.edu 37 19 43680281 43680281 + Silent SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:43680281G>A ENST00000404580.1 - 3 538 c.450C>T c.(448-450)taC>taT p.Y150Y PSG5_ENST00000599812.1_Silent_p.Y243Y|PSG5_ENST00000342951.6_Silent_p.Y150Y|PSG5_ENST00000407356.1_Silent_p.Y150Y|PSG5_ENST00000366175.3_Silent_p.Y150Y|PSG5_ENST00000407568.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 150 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TGATGGTGATGTAGGGCTTGG 0.468000 56 169 0 0 0.048971 0 0 OR7A5 26659 broad.mit.edu 37 19 14938184 14938184 + Silent SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:14938184A>G ENST00000322301.3 - 2 957 c.870T>C c.(868-870)taT>taC p.Y290Y OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y290Y(2) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TCCTCAGACTATAGATAAAGG 0.478000 3 62 0 0 0.004672 0 0 CD86 942 broad.mit.edu 37 3 121828232 121828232 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:121828232G>A ENST00000330540.2 + 5 940 c.824G>A c.(823-825)cGg>cAg p.R275Q CD86_ENST00000393627.2_Missense_Mutation_p.R269Q|CD86_ENST00000469710.1_Missense_Mutation_p.R193Q|CD86_ENST00000493101.1_Missense_Mutation_p.R163Q|CD86_ENST00000264468.5_Missense_Mutation_p.R62Q NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 275 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AAGAAGAAGCGGCCTCGCAAC 0.473000 16 81 0 0 0.038395 0 0 C1orf106 55765 broad.mit.edu 37 1 200880665 200880665 + Silent SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:200880665G>A ENST00000367342.4 + 9 1499 c.1299G>A c.(1297-1299)gtG>gtA p.V433V C1orf106_ENST00000413687.2_Silent_p.V348V NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 433 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CGGTGACAGTGCCAGATTCCT 0.667000 26 78 0 0 0.064281 0 0 PCDH15 65217 broad.mit.edu 37 10 55581630 55581630 + Silent SNP A A C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:55581630A>C ENST00000361849.3 - 34 6256 c.5862T>G c.(5860-5862)tcT>tcG p.S1954S PCDH15_ENST00000437009.1_Silent_p.S1883S|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.S806S|PCDH15_ENST00000320301.6_Silent_p.S1952S|PCDH15_ENST00000395433.1_Silent_p.S1929S|PCDH15_ENST00000395432.2_Silent_p.S1912S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.S1949S|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1952 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACAGTGAAGTAGATTGACTGT 0.363000 HNSCC(58;0.16) 31 20 0 0 0.069456 0 0 ISL1 3670 broad.mit.edu 37 5 50683572 50683572 + Missense_Mutation SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:50683572T>A ENST00000230658.7 + 3 1052 c.467T>A c.(466-468)cTg>cAg p.L156Q ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.L156Q NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 156 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GCGCGGCCACTGCAAATGGCA 0.652000 8 9 0 0 0.093190 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455751 5455751 + Silent SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:5455751C>G ENST00000222033.4 + 1 326 c.249C>G c.(247-249)gtC>gtG p.V83V NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 83 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) TCGTGGCAGTCAAAGCCTTGC 0.667000 5 28 0 0 0.058154 0 0 C1orf173 127254 broad.mit.edu 37 1 75078310 75078310 + Missense_Mutation SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:75078310T>C ENST00000326665.5 - 9 1402 c.1184A>G c.(1183-1185)tAc>tGc p.Y395C C1orf173_ENST00000420661.2_Missense_Mutation_p.Y198C|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 395 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 TCCATACTTGTAGCAAGGAGA 0.398000 11 30 0 0 0.093190 0 0 BARHL1 56751 broad.mit.edu 37 9 135464768 135464768 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:135464768C>A ENST00000263610.2 + 3 1456 c.843C>A c.(841-843)cgC>cgA p.R281R BARHL1_ENST00000542090.1_Silent_p.R281R NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 281 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(2)|skin(3) 8 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) ACCTGTACCGCGGCCCCAGCG 0.697000 10 34 2.17888e-05 2.50776e-05 0.058154 1 0 SERPINA11 256394 broad.mit.edu 37 14 94914752 94914752 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:94914752C>A ENST00000334708.3 - 2 424 c.360G>T c.(358-360)cgG>cgT p.R120R RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 120 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GGAGGAGGCTCCGGAAGCCCT 0.567000 63 114 3.4779e-39 5.12444e-39 0.048971 1 0 CHRD 8646 broad.mit.edu 37 3 184105183 184105183 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:184105183G>A ENST00000204604.1 + 19 2615 c.2369G>A c.(2368-2370)cGg>cAg p.R790Q CHRD_ENST00000348986.3_Missense_Mutation_p.R750Q|CHRD_ENST00000545352.1_Missense_Mutation_p.R332Q|CHRD_ENST00000450923.1_Missense_Mutation_p.R790Q|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 790 VWFC 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GATGGTGACCGGAGCTGGCGG 0.597000 4 27 0 0 0.021553 0 0 ALPK2 115701 broad.mit.edu 37 18 56204135 56204135 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:56204135A>T ENST00000361673.3 - 5 3497 c.3284T>A c.(3283-3285)tTc>tAc p.F1095Y RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1095 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATTACTGCAGAAACCCTCTCC 0.498000 20 91 0 0 0.062417 0 0 SPAM1 6677 broad.mit.edu 37 7 123599760 123599760 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:123599760C>A ENST00000340011.5 + 5 1624 c.1267C>A c.(1267-1269)Ctt>Att p.L423I SPAM1_ENST00000223028.7_Missense_Mutation_p.L423I|SPAM1_ENST00000460182.1_Missense_Mutation_p.L423I|SPAM1_ENST00000439500.1_Missense_Mutation_p.L423I|SPAM1_ENST00000402183.2_Missense_Mutation_p.L423I NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 423 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AAAACCGACACTTGAAGACCT 0.383000 14 66 3.35478e-16 4.58837e-16 0.024245 1 0 IARS 3376 broad.mit.edu 37 9 95015664 95015664 + Missense_Mutation SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:95015664T>G ENST00000375643.3 - 21 2475 c.2209A>C c.(2209-2211)Atg>Ctg p.M737L IARS_ENST00000443024.2_Missense_Mutation_p.M737L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.M627L NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 737 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CTGCGGTTCATTCTAACATAC 0.398000 3 46 0 0 0.004672 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459863 66459863 + RNA SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:66459863G>A ENST00000424345.1 + 0 123 tttcctggatggtgttgatgc 0.363000 4 33 0 0 0.009096 0 0 RBP2 5948 broad.mit.edu 37 3 139180964 139180964 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:139180964C>T ENST00000232217.2 - 2 298 c.242G>A c.(241-243)cGg>cAg p.R81Q RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 81 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) CTTAACATGCCGGTTATCCAG 0.418000 10 73 0 0 0.058154 0 0 EP400 57634 broad.mit.edu 37 12 132498035 132498035 + Splice_Site SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:132498035C>G ENST00000333577.4 + 19 3829 c.3719_splice c.e19-1 p.S1240_splice EP400_ENST00000332482.4_Splice_Site_p.S1167_splice|EP400_ENST00000389562.2_Splice_Site_p.S1203_splice|EP400_ENST00000389561.2_Splice_Site_p.S1204_splice|EP400_ENST00000330386.6_Splice_Site_p.S1204_splice Q96L91 EP400_HUMAN E1A binding protein p400 1240 Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTGTTTGCAGCCAACAACGTC 0.547000 19 43 0 0 0.076483 0 0 CHD3 1107 broad.mit.edu 37 17 7801419 7801419 + Splice_Site SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:7801419C>T ENST00000380358.4 + 12 2228 c.2228_splice c.e12+1 p.R743_splice CHD3_ENST00000358181.4_Splice_Site_p.R684_splice|CHD3_ENST00000330494.7_Splice_Site_p.R684_splice NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 684 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CTGGAGACACCGGTGAGGGAA 0.458000 50 87 0 0 0.048971 0 0 MPP1 4354 broad.mit.edu 37 X 154007590 154007590 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:154007590G>T ENST00000413259.3 - 13 1565 c.1173C>A c.(1171-1173)gcC>gcA p.A391A MPP1_ENST00000393531.1_Silent_p.A401A|MPP1_ENST00000369534.3_Silent_p.A421A NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 421 Guanylate kinase-like.|Interaction with MPP5. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGCTGCGGATGGCCTCAGAGT 0.527000 8 79 3.09899e-07 3.75076e-07 0.047766 1 0 FCRL1 115350 broad.mit.edu 37 1 157771907 157771907 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:157771907G>T ENST00000358292.3 - 5 735 c.684C>A c.(682-684)caC>caA p.H228Q FCRL1_ENST00000368176.3_Missense_Mutation_p.H228Q|FCRL1_ENST00000491942.1_Missense_Mutation_p.H228Q|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 228 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGGCCTCACAGTGAAGCTCCA 0.612000 10 59 0.00136819 0.0015065 0.093190 1 0 GDF3 9573 broad.mit.edu 37 12 7843254 7843254 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:7843254C>T ENST00000329913.3 - 2 362 c.315G>A c.(313-315)ctG>ctA p.L105L NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 105 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGAGCTTCTGCAGGCAGGAGG 0.443000 7 48 0 0 0.058154 0 0 OPN1LW 5956 broad.mit.edu 37 X 153421993 153421993 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:153421993C>A ENST00000369951.4 + 5 1029 c.969C>A c.(967-969)gtC>gtA p.V323V NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 323 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTATCTATGTCTTTATGAACC 0.532000 33 96 1.76056e-25 2.557e-25 0.042209 1 0 KIAA1614 57710 broad.mit.edu 37 1 180886045 180886045 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:180886045C>T ENST00000367588.4 + 2 861 c.806C>T c.(805-807)aCg>aTg p.T269M NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 269 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GTCCCCAGGACGGCCCTGCTG 0.617000 21 78 0 0 0.062417 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935513 151935513 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:151935513C>T ENST00000393902.3 - 3 1221 c.654G>A c.(652-654)gaG>gaA p.E218E MAGEA3_ENST00000370278.3_Silent_p.E218E P43357 MAGA3_HUMAN melanoma antigen family A, 3 218 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) AGATTTTCTCCTCAGGGGCAC 0.552000 34 100 0 0 0.098360 0 0 RASGRF2 5924 broad.mit.edu 37 5 80376547 80376547 + Missense_Mutation SNP A A C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:80376547A>C ENST00000265080.4 + 7 1167 c.1100A>C c.(1099-1101)gAa>gCa p.E367A RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 367 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AAACAGTATGAAGCCAATCCA 0.418000 5 41 0 0 0.021553 0 0 REG1P 5969 broad.mit.edu 37 2 79364148 79364148 + RNA SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:79364148A>G ENST00000444841.1 - 0 285 AGGACAGCACAGAAATGTCCC 0.463000 4 23 0 0 0.009096 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420509 55420509 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:55420509G>A ENST00000242994.3 + 2 664 c.286G>A c.(286-288)Gaa>Aaa p.E96K NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 96 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TAATGCCAGAGAACGGACCCG 0.498000 35 115 0 0 0.080422 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 3 26 0 0 0.009096 0 0 COL5A2 1290 broad.mit.edu 37 2 189933534 189933534 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:189933534G>T ENST00000374866.3 - 19 1509 c.1235C>A c.(1234-1236)cCa>cAa p.P412Q NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 412 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AGAGCCAACTGGACCTGGGGG 0.502000 4 12 0.00909568 0.00969994 0.009096 1 0 CYR61 3491 broad.mit.edu 37 1 86047826 86047826 + Missense_Mutation SNP G G A rs146738107 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:86047826G>A ENST00000451137.2 + 3 717 c.493G>A c.(493-495)Gag>Aag p.E165K NM_001554.4 NP_001545.2 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 165 E -> Q (in Ref. 2; CAA72167). cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) GGTCTGTGACGAGGATAGTAT 0.567000 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 64 0 0 0.058154 0 0 PTER 9317 broad.mit.edu 37 10 16526695 16526695 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:16526695C>A ENST00000378000.1 + 3 558 c.312C>A c.(310-312)agC>agA p.S104R PTER_ENST00000423462.2_Missense_Mutation_p.S104R|PTER_ENST00000298942.3_Missense_Mutation_p.S104R|PTER_ENST00000535784.2_Missense_Mutation_p.S104R|PTER_ENST00000485788.1_3'UTR NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 104 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 CTGGGATTAGCCGAGACACAC 0.458000 11 43 4.36969e-10 5.6713e-10 0.105934 1 0 HSD17B7 51478 broad.mit.edu 37 1 162773268 162773268 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:162773268G>T ENST00000254521.3 + 6 745 c.690G>T c.(688-690)ttG>ttT p.L230F HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Intron NM_016371.2 NP_057455.1 P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 230 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TGACCAATTTGACATATGGAA 0.398000 15 59 7.33628e-21 1.04559e-20 0.069288 1 0 ZNF483 158399 broad.mit.edu 37 9 114304933 114304933 + Missense_Mutation SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:114304933A>G ENST00000309235.5 + 6 1876 c.1718A>G c.(1717-1719)cAt>cGt p.H573R ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 573 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 CAGAGAATTCATACTGGAGAG 0.413000 18 77 0 0 0.055883 0 0 TMEM175 84286 broad.mit.edu 37 4 949544 949544 + Splice_Site SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:949544C>A ENST00000264771.4 + 10 893 c.706_splice c.e10-1 p.G236_splice TMEM175_ENST00000515740.1_Splice_Site_p.G120_splice|TMEM175_ENST00000508204.1_Splice_Site_p.G154_splice NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 236 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGTCCCCAGGCCACAGGGAGC 0.642000 4 7 0.00116845 0.00129122 0.021553 1 0 CPNE1 8904 broad.mit.edu 37 20 34215225 34215225 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:34215225C>T ENST00000317619.3 - 16 1607 c.1213G>A c.(1213-1215)Gct>Act p.A405T CPNE1_ENST00000352393.4_Missense_Mutation_p.A405T|CPNE1_ENST00000317677.5_Missense_Mutation_p.A410T|CPNE1_ENST00000397443.1_Missense_Mutation_p.A405T|CPNE1_ENST00000397442.1_Missense_Mutation_p.A405T|CPNE1_ENST00000397445.1_Missense_Mutation_p.A405T|CPNE1_ENST00000397446.1_Missense_Mutation_p.A405T Q99829 CPNE1_HUMAN copine I 405 VWFA. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) TGATGTGCAGCCTGGGCTGCA 0.562000 4 100 0 0 0.014758 0 0 RXRG 6258 broad.mit.edu 37 1 165398014 165398014 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:165398014G>T ENST00000359842.5 - 2 541 c.239C>A c.(238-240)cCc>cAc p.P80H NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 80 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TGCTCCTGAGGGTGGGCCCAT 0.592000 18 58 1.67942e-08 2.10791e-08 0.038395 1 0 NAP1L2 4674 broad.mit.edu 37 X 72433353 72433353 + Nonsense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:72433353C>A ENST00000373517.3 - 1 1331 c.976G>T c.(976-978)Gag>Tag p.E326* NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.E184* NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 326 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) GTGGAATACTCAATCGCAGTT 0.403000 48 75 4.37618e-36 6.417e-36 0.048971 1 0 FIZ1 84922 broad.mit.edu 37 19 56109113 56109113 + Missense_Mutation SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:56109113C>G ENST00000221665.3 - 2 208 c.119G>C c.(118-120)cGc>cCc p.R40P FIZ1_ENST00000592585.1_Missense_Mutation_p.R40P NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GGCAAAGTGGCGCCGCAGGTC 0.667000 19 34 0 0 0.069288 0 0 HDGFL1 154150 broad.mit.edu 37 6 22569903 22569903 + Silent SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:22569903C>T ENST00000510882.2 + 1 109 c.99C>T c.(97-99)acC>acT p.T33T HDGFL1_ENST00000230012.3_Silent_p.T33T Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 33 PWWP. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) AGCACATGACCCAGCCCAACC 0.582000 8 18 0 0 0.069234 0 0 ZNF229 7772 broad.mit.edu 37 19 44932522 44932522 + Missense_Mutation SNP G G A rs61742344 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:44932522G>A ENST00000291187.4 - 6 2738 c.2416C>T c.(2416-2418)Cgg>Tgg p.R806W ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.R812W NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 812 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGGTGGTTCCGCAGACCTGAG 0.483000 5 50 0 0 0.021553 0 0 SLC5A9 200010 broad.mit.edu 37 1 48696360 48696360 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:48696360C>T ENST00000236495.5 + 6 718 c.668C>T c.(667-669)gCc>gTc p.A223V SLC5A9_ENST00000533824.1_Missense_Mutation_p.A219V|SLC5A9_ENST00000438567.2_Missense_Mutation_p.A198V|SLC5A9_ENST00000420136.2_3'UTR NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 198 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 GTGGTGACTGCCGTCTACACC 0.552000 17 47 0 0 0.055883 0 0 IARS 3376 broad.mit.edu 37 9 95015646 95015646 + Missense_Mutation SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:95015646T>G ENST00000375643.3 - 21 2493 c.2227A>C c.(2227-2229)Aag>Cag p.K743Q IARS_ENST00000443024.2_Missense_Mutation_p.K743Q|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.K633Q NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 743 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) GCACTTACCTTTAATCTTCTG 0.383000 3 42 0 0 0.004672 0 0 PLCL2 23228 broad.mit.edu 37 3 17051510 17051510 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:17051510G>C ENST00000418129.2 + 2 759 c.294G>C c.(292-294)gaG>gaC p.E98D PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.E98D|PLCL2_ENST00000432376.1_Missense_Mutation_p.E98D NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 224 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.E98D(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TATATGGAGAGAATTATGAGT 0.418000 5 68 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179409131 179409131 + Missense_Mutation SNP A A G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:179409131A>G ENST00000589042.1 - 345 96049 c.95825T>C c.(95824-95826)gTa>gCa p.V31942A TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29374A|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22877A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30301A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23002A|TTN_ENST00000342175.6_Missense_Mutation_p.V23069A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30301 Ig-like 141. 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) AACATATCCTACAATGTCAGT 0.463000 23 61 0 0 0.083992 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48810501 48810501 + Missense_Mutation SNP G G A rs147886817 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:48810501G>A ENST00000265563.8 - 6 832 c.583C>T c.(583-585)Cgc>Tgc p.R195C PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R195C|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R195C NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 195 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) CCAACAGAGCGGGTTTGATTA 0.383000 8 53 0 0 0.047766 0 0 FOXL1 2300 broad.mit.edu 37 16 86612429 86612429 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:86612429C>T ENST00000320241.3 + 1 315 c.100C>T c.(100-102)Ccc>Tcc p.P34S NM_005250.2 NP_005241.1 Q12952 FOXL1_HUMAN forkhead box L1 34 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 GGCCTTCGCCCCCGCGGCTGC 0.697000 7 13 0 0 0.069234 0 0 OR5L2 26338 broad.mit.edu 37 11 55595206 55595206 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:55595206C>A ENST00000378397.1 + 1 512 c.512C>A c.(511-513)tCt>tAt p.S171Y NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TTCTATAGATCTAATGTGATT 0.488000 HNSCC(27;0.073) 54 154 1.72845e-40 2.55911e-40 0.048971 1 0 CCDC142 84865 broad.mit.edu 37 2 74708398 74708398 + Missense_Mutation SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:74708398C>G ENST00000393965.3 - 3 1606 c.1210G>C c.(1210-1212)Gat>Cat p.D404H CCDC142_ENST00000290418.4_Missense_Mutation_p.D404H|CCDC142_ENST00000471713.1_5'UTR NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 404 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 CGAAGGGCATCCAAGAGAGGA 0.572000 12 29 0 0 0.093190 0 0 RSU1P2 100133308 broad.mit.edu 37 10 45602403 45602403 + RNA SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:45602403C>A ENST00000423875.1 - 0 1033 CCCTACAAGGCTGCAGCAGTG 0.388000 6 6 2.0095e-06 2.39413e-06 0.029380 1 0 OR11L1 391189 broad.mit.edu 37 1 248004585 248004585 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:248004585G>T ENST00000355784.2 - 1 669 c.614C>A c.(613-615)gCc>gAc p.A205D NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCACAGCACGGCAATTGACAG 0.473000 44 123 2.35958e-20 3.34732e-20 0.111260 1 0 UNC5D 137970 broad.mit.edu 37 8 35616848 35616848 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:35616848C>T ENST00000287272.2 + 13 1987 c.1967C>T c.(1966-1968)tCa>tTa p.S656L UNC5D_ENST00000449677.1_Missense_Mutation_p.S301L|UNC5D_ENST00000453357.2_Missense_Mutation_p.S720L|UNC5D_ENST00000420357.1_Missense_Mutation_p.S658L|UNC5D_ENST00000404895.2_Missense_Mutation_p.S725L|UNC5D_ENST00000416672.1_Missense_Mutation_p.S730L Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 725 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GAAGTGGTTTCAGATGAAAGG 0.378000 12 47 0 0 0.080935 0 0 OR5J2 282775 broad.mit.edu 37 11 55944493 55944493 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:55944493G>C ENST00000312298.1 + 1 400 c.400G>C c.(400-402)Gta>Cta p.V134L NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) GCTTTACACTGTAGCCATGTC 0.458000 8 42 0 0 0.058154 0 0 EBF2 64641 broad.mit.edu 37 8 25899680 25899680 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:25899680G>T ENST00000520164.1 - 2 756 c.219C>A c.(217-219)ctC>ctA p.L73L NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 73 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GCCTGTCATAGAGCGCCAGGA 0.592000 8 54 5.50884e-06 6.48724e-06 0.093190 1 0 FBXO25 26260 broad.mit.edu 37 8 413123 413123 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:413123T>C ENST00000352684.2 + 8 1176 c.759T>C c.(757-759)tgT>tgC p.C253C FBXO25_ENST00000519376.1_3'UTR|FBXO25_ENST00000350302.3_Silent_p.C320C|FBXO25_ENST00000382824.1_Silent_p.C253C|FBXO25_ENST00000276326.5_Silent_p.C320C NM_012173.3 NP_036305.2 Q8TCJ0 FBX25_HUMAN F-box protein 25 320 F-box. nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) TGCATTTCTGTCGGCACTGCA 0.378000 10 125 0 0 0.093190 0 0 OR5A2 219981 broad.mit.edu 37 11 59189969 59189969 + Missense_Mutation SNP C C G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:59189969C>G ENST00000302040.4 - 1 480 c.458G>C c.(457-459)gGa>gCa p.G153A NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 ACTAAGGAATCCACCCACATA 0.458000 8 59 0 0 0.047766 0 0 MIR891B 100126304 broad.mit.edu 37 X 145082576 145082576 + RNA SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:145082576T>C ENST00000401245.1 - 0 73 NR_030590.1 ttatctcttttgaccctaaca 0.388000 8 12 0 0 0.038147 0 0 DEFB136 613210 broad.mit.edu 37 8 11832060 11832060 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:11832060G>T ENST00000382209.2 - 1 48 c.49C>A c.(49-51)Cct>Act p.P17T NM_001033018.2 NP_001028190.2 Q30KP8 DB136_HUMAN defensin, beta 136 17 defense response to bacterium extracellular region endometrium(2)|large_intestine(1)|lung(4) 7 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) TTACCTGAAGGCAGTAAGATC 0.483000 33 183 3.33393e-15 4.49934e-15 0.074837 1 0 NXPE4 54827 broad.mit.edu 37 11 114442052 114442052 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:114442052A>T ENST00000375478.3 - 6 1423 c.1243T>A c.(1243-1245)Tac>Aac p.Y415N NXPE4_ENST00000424261.2_Missense_Mutation_p.Y131N NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 CGGGTGAGGTACTCCATCTCT 0.423000 21 94 0 0 0.083992 0 0 GRIK3 2899 broad.mit.edu 37 1 37319244 37319244 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:37319244A>T ENST00000373091.3 - 8 1200 c.1184T>A c.(1183-1185)aTc>aAc p.I395N GRIK3_ENST00000373093.4_Missense_Mutation_p.I395N|GRIK3_ENST00000462621.1_5'UTR NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 395 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) TTTCAGGCTGATGATGTCCAG 0.547000 10 3 0 0 0.058154 0 0 DSG1 1828 broad.mit.edu 37 18 28908227 28908227 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:28908227G>A ENST00000257192.4 + 4 504 c.292G>A c.(292-294)Ggg>Agg p.G98R NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 98 Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GCCACCATATGGGATCTTTGT 0.388000 4 19 0 0 0.014758 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249106452 249106452 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:249106452C>A ENST00000366472.5 - 7 2058 c.829G>T c.(829-831)Ggg>Tgg p.G277W SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.G245W NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 277 p.G277R(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGCAGACCCCCGCGGCGCCGT 0.692000 7 21 1.06961e-07 1.33156e-07 0.038147 1 0 EPN1 29924 broad.mit.edu 37 19 56204360 56204360 + Missense_Mutation SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:56204360T>G ENST00000411543.2 + 9 2026 c.1479T>G c.(1477-1479)ttT>ttG p.F493L EPN1_ENST00000085079.7_Missense_Mutation_p.F381L|EPN1_ENST00000270460.6_Missense_Mutation_p.F407L NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 407 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) TCTCTGACTTTGACCGACTCC 0.701000 10 51 0 0 0.093190 0 0 CLU 1191 broad.mit.edu 37 8 27472255 27472255 + Missense_Mutation SNP T T C rs2077086 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:27472255T>C ENST00000560366.1 - 1 72 c.44A>G c.(43-45)cAg>cGg p.Q15R CLU_ENST00000316403.10_5'UTR NM_001831.3 NP_001822.3 P10909 CLUS_HUMAN clusterin 0 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TATAGCGCTCTGCTCGCGCAC 0.657000 OREG0018671 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 23 0 0 0.009096 0 0 CSMD1 64478 broad.mit.edu 37 8 2820774 2820774 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:2820774C>T ENST00000602557.1 - 61 9982 c.9427G>A c.(9427-9429)Gtg>Atg p.V3143M CSMD1_ENST00000400186.3_Missense_Mutation_p.V2966M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3143M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2965M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3142M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2966M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3143 Sushi 25. 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) CCTTTCCACACCCCGCGACCT 0.567000 17 56 0 0 0.099896 0 0 C1orf106 55765 broad.mit.edu 37 1 200880666 200880666 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:200880666C>A ENST00000367342.4 + 9 1500 c.1300C>A c.(1300-1302)Cca>Aca p.P434T C1orf106_ENST00000413687.2_Missense_Mutation_p.P349T NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 434 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GGTGACAGTGCCAGATTCCTG 0.667000 26 83 2.20474e-14 2.96231e-14 0.064281 1 0 CDH18 1016 broad.mit.edu 37 5 19591214 19591214 + Silent SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:19591214T>A ENST00000507958.1 - 9 1941 c.951A>T c.(949-951)tcA>tcT p.S317S CDH18_ENST00000511273.1_Silent_p.S317S|CDH18_ENST00000274170.4_Silent_p.S317S|CDH18_ENST00000502796.1_Silent_p.S317S|CDH18_ENST00000506372.1_Silent_p.S317S|CDH18_ENST00000382275.1_Silent_p.S317S Q13634 CAD18_HUMAN cadherin 18, type 2 317 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CAGTGGAGATTGAGAATATTC 0.403000 25 31 0 0 0.108266 0 0 VDR 7421 broad.mit.edu 37 12 48240466 48240466 + Missense_Mutation SNP T T A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:48240466T>A ENST00000229022.3 - 9 1162 c.881A>T c.(880-882)aAg>aTg p.K294M VDR_ENST00000549336.1_Missense_Mutation_p.K294M|VDR_ENST00000395324.2_Missense_Mutation_p.K294M|VDR_ENST00000550325.1_Missense_Mutation_p.K344M|VDR_ENST00000535672.1_Missense_Mutation_p.K262M NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 294 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GACGCGGTACTTGTAGTCTTG 0.542000 12 38 0 0 0.093190 0 0 ALK 238 broad.mit.edu 37 2 29940451 29940451 + Silent SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:29940451G>A ENST00000389048.3 - 2 1686 c.780C>T c.(778-780)agC>agT p.S260S ALK_ENST00000431873.1_Silent_p.S260S NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 260 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TACCATATCGGCTGCGATGAG 0.393000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 27 38 0 0 0.108266 0 0 GGCX 2677 broad.mit.edu 37 2 85777682 85777682 + Missense_Mutation SNP G G C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:85777682G>C ENST00000233838.3 - 14 2160 c.2080C>G c.(2080-2082)Cgc>Ggc p.R694G GGCX_ENST00000430215.3_Missense_Mutation_p.R637G NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 694 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) ACTTACCTGCGGCGAAAGACA 0.468000 29 63 0 0 0.034045 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13093 13093 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrM:13093G>A ENST00000361567.2 + 1 757 c.757G>A c.(757-759)Gtt>Att p.V253I P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 253 V -> A (in MT-C1D). mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CAAGCACTATAGTTGTAGCAG 0.522000 12 579 0 0 0.049695 0 0 GPANK1 7918 broad.mit.edu 37 6 31630177 31630177 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:31630177C>A ENST00000375906.1 - 4 1621 c.937G>T c.(937-939)Gat>Tat p.D313Y GPANK1_ENST00000375893.2_Missense_Mutation_p.D313Y|GPANK1_ENST00000375900.4_Missense_Mutation_p.D313Y|GPANK1_ENST00000375896.4_Missense_Mutation_p.D313Y|GPANK1_ENST00000375895.2_Missense_Mutation_p.D313Y NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 313 intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 GCTCGGGTATCCCAAGCTGGG 0.632000 5 17 0.000157383 0.000176478 0.038147 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 31 0 0 0.004672 0 0 BAZ2B 29994 broad.mit.edu 37 2 160243034 160243034 + Nonsense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:160243034G>A ENST00000392783.2 - 22 3796 c.3301C>T c.(3301-3303)Cga>Tga p.R1101* AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.R1065*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.R1067*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.R1001* NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1101 DDT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CCAAAGTTTCGTAAGAACTGC 0.413000 13 50 0 0 0.024245 0 0 GKAP1 80318 broad.mit.edu 37 9 86357514 86357514 + Splice_Site SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:86357514C>T ENST00000376371.2 - 11 1306 c.904_splice c.e11-1 p.M302_splice GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Splice_Site_p.M251_splice NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 302 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 CCTTATCTTTCACTGACAAAA 0.368000 4 26 0 0 0.009096 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42976964 42976964 + Splice_Site SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:42976964A>T ENST00000485511.1 + 11 1429 c.1251_splice c.e11+1 p.Q417_splice PPP2R5D_ENST00000461010.1_Splice_Site_p.Q311_splice|PPP2R5D_ENST00000394110.3_Splice_Site_p.Q385_splice|PPP2R5D_ENST00000472118.1_Splice_Site_p.Q409_splice NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 417 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCCCATTTCCAGGTGAGACTC 0.557000 OREG0017447 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 65 0 0 0.048971 0 0 TLN2 83660 broad.mit.edu 37 15 63040641 63040641 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:63040641G>A ENST00000561311.1 + 32 4347 c.4117G>A c.(4117-4119)Gag>Aag p.E1373K TLN2_ENST00000306829.6_Missense_Mutation_p.E1373K Q9Y4G6 TLN2_HUMAN talin 2 1373 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCGGGAGCTCGAGGTAGGTCC 0.537000 14 57 0 0 0.020292 0 0 C1orf141 400757 broad.mit.edu 37 1 67561035 67561035 + Missense_Mutation SNP A A T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:67561035A>T ENST00000371007.2 - 7 595 c.486T>A c.(484-486)agT>agA p.S162R C1orf141_ENST00000371006.1_Missense_Mutation_p.S162R|C1orf141_ENST00000544837.1_Missense_Mutation_p.S162R NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 162 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 ACCTATACTTACTTAATTGAT 0.338000 5 11 0 0 0.014758 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459862 66459862 + RNA SNP T T C rs142101130 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:66459862T>C ENST00000424345.1 + 0 122 ttttcctggatggtgttgatg 0.363000 4 35 0 0 0.009096 0 0 RGS22 26166 broad.mit.edu 37 8 101078438 101078438 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:101078438T>C ENST00000360863.6 - 7 875 c.681A>G c.(679-681)gtA>gtG p.V227V RGS22_ENST00000523287.1_Silent_p.V46V|RGS22_ENST00000523437.1_Silent_p.V215V NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 227 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGTTGTAGGGTACACAACAGG 0.363000 8 41 0 0 0.058154 0 0 LHCGR 3973 broad.mit.edu 37 2 48915565 48915565 + Silent SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:48915565G>T ENST00000294954.7 - 11 1392 c.1371C>A c.(1369-1371)ctC>ctA p.L457L STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Silent_p.L430L|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Silent_p.L395L|LHCGR_ENST00000403273.1_3'UTR NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 457 L -> R (in FMPP). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TGATGACGGTGAGGGTGTAGA 0.478000 38 104 8.73648e-17 1.20571e-16 0.069456 1 0 CC2D2A 57545 broad.mit.edu 37 4 15504503 15504503 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:15504503G>T ENST00000424120.1 + 6 649 c.395G>T c.(394-396)cGa>cTa p.R132L CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R132L|CC2D2A_ENST00000503292.1_Missense_Mutation_p.R132L|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R83L Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 132 cell projection organization cilium|microtubule basal body p.R83Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 AGACGCTTACGAAGTCCCAGT 0.418000 9 16 0.000673444 0.000746911 0.069234 1 0 VPS13D 55187 broad.mit.edu 37 1 12566973 12566973 + Silent SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:12566973G>A ENST00000358136.3 + 69 12991 c.12861G>A c.(12859-12861)ctG>ctA p.L4287L VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543710.1_Silent_p.L91L|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.L4262L|VPS13D_ENST00000543766.1_Silent_p.L285L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4286 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTTACTTCCTGAAAAGTGGAG 0.493000 11 35 0 0 0.069234 0 0 LOC101928460 101928460 broad.mit.edu 37 1 29667679 29667679 + RNA DEL G G - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:29667679delG ENST00000417651.1 - 0 432 ttttttttttgttttgttttg 0.438 4 2 --- --- --- --- RP5-1198O20.4 0 broad.mit.edu 37 1 44537841 44537841 + RNA DEL T T - rs35296865 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:44537841delT ENST00000434244.1 + 0 930 ggaacccaggttttttttttt 0.438 4 2 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68372385 68372385 + RNA DEL T T - rs147868269 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:68372385delT ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000413628.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN tttgaggcagttttttttttg 0.368 3 5 --- --- --- --- RP4-714D9.5 0 broad.mit.edu 37 1 100496224 100496225 + RNA DEL TG TG - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:100496224_100496225delTG ENST00000564623.1 + 0 103_104 ACACAAAATCTGTGTGTGTGTG 0.332 2 4 --- --- --- --- RP11-202K23.1 0 broad.mit.edu 37 1 102843938 102843938 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:102843938delA ENST00000447916.1 - 0 339 TAAATGAGTGAAAAATATAAG 0.299 2 4 --- --- --- --- LINC01525 104355292 broad.mit.edu 37 1 117840123 117840124 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:117840123_117840124insA ENST00000442182.1 + 0 298 aactccgtctcaaaaaaaaaaa 0.396 2 4 --- --- --- --- LOC101927648 101927648 broad.mit.edu 37 1 143451865 143451866 + RNA INS - - AT rs141878771 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:143451865_143451866insAT ENST00000423249.1 - 0 59 aaaaaaaaaaaaaaaaaacaaa 0.386 2 4 --- --- --- --- LOC400794 400794 broad.mit.edu 37 1 165537915 165537916 + RNA INS - - A rs35877698 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:165537915_165537916insA ENST00000438275.1 - 0 932 RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA gataggagatgaaaaaaaaact 0.351 3 4 --- --- --- --- LINC00970 101978719 broad.mit.edu 37 1 169001336 169001337 + RNA DEL TC TC - rs71736072 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:169001336_169001337delTC ENST00000366408.3 - 0 209 tcttcttctttctctctctctc 0.441 5 7 --- --- --- --- RP11-373J16.1 0 broad.mit.edu 37 1 189005853 189005854 + RNA INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:189005853_189005854insC ENST00000445072.1 + 0 244_245 ccccagaattgccCCcctgggg 0.416 2 4 --- --- --- --- CTD-2090I13.1 0 broad.mit.edu 37 1 227597661 227597661 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr1:227597661delT ENST00000445817.1 + 0 340 TGACCATTTCTTTTTTTTTAA 0.333 4 7 --- --- --- --- AC008069.1 0 broad.mit.edu 37 2 16916657 16916658 + RNA INS - - AGAA rs10675465 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:16916657_16916658insAGAA ENST00000448650.1 + 0 56 CAAAGAGAGGTAGGCCCCTGTG 0.475 2 4 --- --- --- --- AC012593.1 0 broad.mit.edu 37 2 35083953 35083956 + RNA DEL CAGA CAGA - rs147807518 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:35083953_35083956delCAGA ENST00000588944.1 + 0 115 ataccaaaaccagacaaagaccca 0.299 6 0 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59780942 59780942 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:59780942delA ENST00000606382.1 - 0 236 tgggcggatcacttgagcctg 0.507 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59858908 59858908 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:59858908delT ENST00000606382.1 - 0 236 gatttaattcttttttatggc 0.368 2 4 --- --- --- --- LOC101929231 101929231 broad.mit.edu 37 2 150470187 150470188 + RNA INS - - GTGC TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:150470187_150470188insGTGC ENST00000449714.1 + 0 655 tgtgtgtgtgtgcgtgtgcgtg 0.356 5 2 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 165126276 165126276 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:165126276delT ENST00000429636.1 - 0 104 cttaatttgcttaggacaatg 0.368 2 4 --- --- --- --- LINC00607 646324 broad.mit.edu 37 2 216619195 216619195 + RNA DEL C C - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:216619195delC ENST00000445174.1 - 0 211 NR_037195.1 ttaagtgctgctcaaaagctt 0.383 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217560771 217560772 + RNA DEL GT GT - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:217560771_217560772delGT ENST00000447289.1 + 0 298 TCCATGTGGGGTGTGTGTGTGT 0.421 2 4 --- --- --- --- AC097713.3 0 broad.mit.edu 37 2 235367136 235367137 + RNA DEL CG CG - rs141075144 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:235367136_235367137delCG ENST00000418025.1 + 0 188 tccttccccccgccggtcccca 0.530 3 3 --- --- --- --- AC113618.1 0 broad.mit.edu 37 2 239639784 239639784 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr2:239639784delA ENST00000448543.1 + 0 98 CTGGCAAGTTAAAAAAAAAAA 0.348 3 3 --- --- --- --- LMCD1-AS1 100288428 broad.mit.edu 37 3 8652218 8652219 + RNA DEL TG TG - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:8652218_8652219delTG ENST00000458666.1 - 0 426 LMCD1-AS1_ENST00000439407.1_RNA ATATACATGTTGTGTGTGTGTA 0.411 2 4 --- --- --- --- LINC00882 100302640 broad.mit.edu 37 3 106822402 106822403 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:106822402_106822403insT ENST00000484698.1 - 0 295 GCAACTTCTACTTTTGCTAATA 0.460 2 4 --- --- --- --- LINC00636 285205 broad.mit.edu 37 3 107621270 107621270 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:107621270delT ENST00000494231.1 + 0 59 NR_015394.1 agctttgttctttttgcttag 0.338 2 4 --- --- --- --- RP11-200A1.1 0 broad.mit.edu 37 3 134039247 134039248 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:134039247_134039248insA ENST00000482019.1 + 0 42 GGGAGTCTTACAAAAAAAAAAG 0.302 2 4 --- --- --- --- RP11-501O2.5 0 broad.mit.edu 37 3 148078586 148078587 + RNA DEL AT AT - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:148078586_148078587delAT ENST00000481334.1 + 0 106 tgtccttgcgatagtttgctca 0.416 4 8 --- --- --- --- AADACL2-AS1 101928142 broad.mit.edu 37 3 151578589 151578589 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:151578589delT ENST00000483843.2 - 0 439 RP11-454C18.2_ENST00000475855.1_RNA ATGCCCTGCCTACAACTTAGT 0.373 2 4 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153258149 153258149 + RNA DEL G G - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:153258149delG ENST00000493214.2 - 0 260 TAATTAACATGGTGATAGCAC 0.328 2 4 --- --- --- --- RP11-298O21.2 0 broad.mit.edu 37 3 167594669 167594674 + RNA DEL TGTGTG TGTGTG - rs57722183 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:167594669_167594674delTGTGTG ENST00000475324.1 + 0 282 RP11-298O21.6_ENST00000463642.1_lincRNA GAGgtgtgcttgtgtgtgtgtgtgtg 0.432 2 4 --- --- --- --- LINC01330 646168 broad.mit.edu 37 3 167616888 167616888 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:167616888delT ENST00000481578.1 + 0 137 CATGCTTTCCTTCCTTCTAAA 0.363 2 4 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177255583 177255584 + RNA INS - - CA rs141426881 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:177255583_177255584insCA ENST00000442937.1 + 0 190 NR_047568.1 TGAAAGTGCTCCAGTGTCACTT 0.475 3 5 --- --- --- --- LOC101929106 101929106 broad.mit.edu 37 3 186921739 186921739 + RNA DEL T T - rs140101149 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:186921739delT ENST00000356133.3 - 0 344 AGTTTCTGACTTTTGCAGTCC 0.418 2 4 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195701310 195701311 + RNA INS - - AA TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr3:195701310_195701311insAA ENST00000427841.1 - 0 1513_1514 NR_003264.2 CATGCCTGACCAGACAACCAGG 0.574 9 114 --- --- --- --- LOC256880 256880 broad.mit.edu 37 4 100910774 100910775 + RNA INS - - CA rs143996847 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:100910774_100910775insCA ENST00000507494.1 + 0 191 RP11-15B17.1_ENST00000501976.2_RNA cccctggcaacccattctgtct 0.376 3 3 --- --- --- --- RP11-556I14.2 0 broad.mit.edu 37 4 105773374 105773374 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:105773374delT ENST00000515127.1 - 0 366 ttgggttttgttttttaatcc 0.313 2 4 --- --- --- --- RP11-284M14.1 0 broad.mit.edu 37 4 144041311 144041312 + RNA DEL CA CA - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:144041311_144041312delCA ENST00000507826.1 - 0 354 caaaggttgtcacaatgcctga 0.332 2 4 --- --- --- --- RP11-285C1.2 0 broad.mit.edu 37 4 153971300 153971300 + RNA DEL A A - rs71598231 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:153971300delA ENST00000515232.1 + 0 218 aagtctctacaaaaaaataca 0.483 2 4 --- --- --- --- LOC100506085 100506085 broad.mit.edu 37 4 170887159 170887163 + RNA DEL CAAAA CAAAA - rs7659042 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:170887159_170887163delCAAAA ENST00000508313.1 - 0 87 NR_037878.1 GTTCTTGaagcaaaacaaaacaaaa 0.395 4 6 --- --- --- --- LOC100506085 100506085 broad.mit.edu 37 4 170888757 170888759 + RNA DEL AAC AAC - rs148791379 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:170888757_170888759delAAC ENST00000508313.1 - 0 87 NR_037878.1 AAAAAAAAAAAACAAAAACTGAT 0.241 8 0 --- --- --- --- LINC01098 285501 broad.mit.edu 37 4 178911644 178911644 + Frame_Shift_Del DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr4:178911644delA ENST00000507870.1 + 6 774 c.312delA c.(310-312)ttfs p.L104fs lung(8)|prostate(1) 9 TTCAAGCATTAAGCACTGTGC 0.393 14 36 --- --- --- --- LINC01019 285577 broad.mit.edu 37 5 3446822 3446824 + RNA DEL TGA TGA - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:3446822_3446824delTGA ENST00000505443.1 - 0 459 NR_033898.1 gtggtgatggtgatgatgatggt 0.473 7 2 --- --- --- --- LOC100505625 100505625 broad.mit.edu 37 5 6687787 6687790 + RNA DEL CACT CACT - rs61338104 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:6687787_6687790delCACT ENST00000503989.1 - 0 2756 NR_103771.1 atatcactcacactcagtcacacc 0.475 3 3 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14487780 14487781 + Frame_Shift_Ins INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:14487780_14487781insC ENST00000344204.4 + 48 7067_7068 c.7043_7044insC c.(7042-7044)cccfs p.P2348fs TRIO_ENST00000537187.1_Frame_Shift_Ins_p.P2348fs NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2348 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GTCCGACACCACCCCCCCGTGC 0.748 2 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21559505 21559506 + RNA INS - - CA rs149099655 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:21559505_21559506insCA ENST00000607545.1 + 0 314 NR_027026.1 TCAATAGACtgtagtatgttcg 0.356 4 3 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21564316 21564317 + RNA DEL TC TC - rs71607535 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:21564316_21564317delTC ENST00000607545.1 + 0 314 NR_027026.1 AAGGAGCCTTTCTCTGCCTGAA 0.361 3 3 --- --- --- --- LIFR-AS1 100506495 broad.mit.edu 37 5 38596646 38596647 + RNA DEL AG AG - rs151228908 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:38596646_38596647delAG ENST00000500733.2 + 0 2540 LIFR-AS1_ENST00000500817.2_RNA NR_037423.1|NR_103553.1 ctgctggactagagaccacact 0.465 6 0 --- --- --- --- CTD-2023N9.2 0 broad.mit.edu 37 5 56878730 56878730 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:56878730delA ENST00000513392.1 + 0 244 TAGCAGCTTTAAAAAAAAAAT 0.438 2 4 --- --- --- --- RP11-60A8.1 0 broad.mit.edu 37 5 72542103 72542104 + RNA DEL GC GC - rs36124854 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:72542103_72542104delGC ENST00000513379.1 + 0 328 ACATGCGCGTGCGCGCGCGCGc 0.485 5 1 --- --- --- --- ZBED3-AS1 728723 broad.mit.edu 37 5 76419181 76419182 + RNA INS - - C rs143726317 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:76419181_76419182insC ENST00000513591.1 + 0 865 ZBED3-AS1_ENST00000515419.1_RNA|ZBED3-AS1_ENST00000502433.1_RNA|ZBED3-AS1_ENST00000514905.1_RNA|ZBED3-AS1_ENST00000508401.1_RNA|ZBED3-AS1_ENST00000514114.1_RNA|ZBED3-AS1_ENST00000512001.1_RNA|ZBED3-AS1_ENST00000513406.1_RNA|ZBED3-AS1_ENST00000504506.1_RNA|ZBED3-AS1_ENST00000507749.1_RNA|ZBED3-AS1_ENST00000503969.1_RNA gttgaattcctcccccaccgcc 0.460 2 4 --- --- --- --- MEF2C-AS1 101929423 broad.mit.edu 37 5 88425194 88425194 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:88425194delT ENST00000512585.1 + 0 202 MEF2C-AS1_ENST00000514571.1_RNA|MEF2C-AS1_ENST00000514092.1_RNA TCTGTCAGCCTTCCTTATTAT 0.398 2 4 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95533467 95533468 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:95533467_95533468insT ENST00000507997.1 + 0 159 CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA CAACCTAGACAtttttttgtgt 0.485 2 4 --- --- --- --- LINC01340 102546227 broad.mit.edu 37 5 96847371 96847377 + RNA DEL CCTATGG CCTATGG - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:96847371_96847377delCCTATGG ENST00000504012.1 + 0 97 ctctcacctacctatggcctggaagtc 0.440 2 4 --- --- --- --- LOC101927115 101927115 broad.mit.edu 37 5 151532834 151532835 + RNA DEL TG TG - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:151532834_151532835delTG ENST00000524295.1 + 0 199 gctttttatatgtgtgtgtgtg 0.381 2 4 --- --- --- --- RP11-541P9.3 0 broad.mit.edu 37 5 162514093 162514094 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:162514093_162514094insA ENST00000509211.1 - 0 219 RP11-541P9.3_ENST00000458002.2_RNA TTTCCATTTGGAAAAAAAAAGT 0.307 2 4 --- --- --- --- CTC-535M15.2 0 broad.mit.edu 37 5 165026516 165026517 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:165026516_165026517insT ENST00000522189.1 + 0 21 tacagcacaacttttttttttt 0.361 3 3 --- --- --- --- CTD-2532K18.1 0 broad.mit.edu 37 5 174256314 174256315 + RNA INS - - T rs68084293 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr5:174256314_174256315insT ENST00000502684.1 + 0 50 TCCAGTGGCTCTTTTTTTTTTT 0.347 4 3 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29987533 29987534 + RNA INS - - A rs9280845 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:29987533_29987534insA ENST00000444051.1 - 0 2112_2113 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000448093.1_RNA NR_103542.1 tctttactgacaactagatttg 0.480 3 3 --- --- --- --- LOC101928516 101928516 broad.mit.edu 37 6 74912077 74912077 + RNA DEL T T - rs112680600 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr6:74912077delT ENST00000435946.1 + 0 138 tttgttgggatttttttttta 0.303 2 4 --- --- --- --- LOC100505938 100505938 broad.mit.edu 37 7 8351813 8351813 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:8351813delT ENST00000424460.1 + 0 493 RP4-594A5.1_ENST00000435967.1_lincRNA tttccacccctttaccttgag 0.358 2 4 --- --- --- --- AC007091.1 0 broad.mit.edu 37 7 19613595 19613595 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:19613595delA ENST00000412563.1 + 0 356 actgtagaagaaaagcctgaa 0.433 2 4 --- --- --- --- AC004009.3 0 broad.mit.edu 37 7 27446565 27446566 + RNA INS - - GATGT rs149252430 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:27446565_27446566insGATGT ENST00000412413.1 + 0 399 aggagtccagggagcagcctct 0.550 2 4 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89570560 89570560 + RNA DEL C C - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:89570560delC ENST00000478318.2 - 0 424 tggagtaaaaccctggctgct 0.378 2 4 --- --- --- --- GAL3ST4 79690 broad.mit.edu 37 7 99758298 99758299 + Frame_Shift_Ins INS - - G rs149033197 byFrequency TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:99758298_99758299insG ENST00000360039.4 - 4 1105_1106 c.713_714insC c.(712-714)ccafs p.P238fs GAL3ST4_ENST00000411994.1_Frame_Shift_Ins_p.Q137fs|GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.P238fs|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.P176fs|GAL3ST4_ENST00000423751.1_Frame_Shift_Ins_p.Q137fs NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 238 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCTGCAGCTGTGGGGGGTTGGG 0.564 7 414 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101040812 101040813 + RNA INS - - C rs145665554 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:101040812_101040813insC ENST00000313669.7 + 0 350 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 ccttctctcctccccccccctc 0.525 2 4 --- --- --- --- AC004014.3 0 broad.mit.edu 37 7 108557140 108557140 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:108557140delT ENST00000413406.1 + 0 75 tattcctaagttttttttttt 0.373 4 3 --- --- --- --- AC004014.3 0 broad.mit.edu 37 7 108576408 108576408 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:108576408delA ENST00000413406.1 + 0 75 ttatatcactaatcatcaggg 0.299 2 4 --- --- --- --- ZNF767 79970 broad.mit.edu 37 7 149267422 149267425 + RNA DEL AGAG AGAG - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:149267422_149267425delAGAG ENST00000463567.1 - 0 600 NR_027788.1 zinc finger family member 767 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) ACGGGATGACagagagagagagag 0.505 2 4 --- --- --- --- C7orf13 129790 broad.mit.edu 37 7 156282032 156282033 + RNA INS - - AGAC rs28562054 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr7:156282032_156282033insAGAC ENST00000447933.1 - 0 300 ataagatagatagatagacaga 0.381 5 1 --- --- --- --- RP11-388G22.1 0 broad.mit.edu 37 8 58544068 58544069 + RNA INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:58544068_58544069insC ENST00000520426.1 - 0 273 CTCTATACCTACCCCCAAAGCT 0.416 2 4 --- --- --- --- CTD-3118D11.3 0 broad.mit.edu 37 8 87213066 87213066 + RNA DEL G G - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:87213066delG ENST00000523112.1 + 0 459 AGTAAGGCATGGATGTCTGAG 0.333 3 4 --- --- --- --- LINC00534 100874052 broad.mit.edu 37 8 91357773 91357774 + RNA INS - - A rs35932905 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:91357773_91357774insA ENST00000523406.1 + 0 300 NR_051989.1 ATAGGAAATGGAAAAAAAAAAA 0.436 3 4 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96370154 96370154 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:96370154delA ENST00000521905.1 + 0 126 AGGTGTTTAGAAGTTGGTTGT 0.517 2 4 --- --- --- --- RP11-1084E5.1 0 broad.mit.edu 37 8 109920931 109920931 + RNA DEL C C - rs78437633 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:109920931delC ENST00000524134.1 - 0 431 RP11-1084E5.1_ENST00000522244.1_RNA CTGTTTTTTTCCCCCCAATTA 0.393 2 4 --- --- --- --- RP11-149P24.1 0 broad.mit.edu 37 8 137173788 137173789 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr8:137173788_137173789insT ENST00000523150.1 + 0 330 CACACACAttcttttttttttt 0.431 2 4 --- --- --- --- VLDLR-AS1 401491 broad.mit.edu 37 9 2480436 2480437 + RNA INS - - T rs57040683 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:2480436_2480437insT ENST00000416826.2 - 0 1214 tggtgttctcatactttctctc 0.411 2 4 --- --- --- --- MIR31HG 554202 broad.mit.edu 37 9 21494917 21494918 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:21494917_21494918insT ENST00000304425.3 - 0 181 NR_027054.1 ACGAGCATCTCTTTTTTTCTAA 0.386 2 4 --- --- --- --- LINC01239 441389 broad.mit.edu 37 9 22817441 22817442 + RNA INS - - G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:22817441_22817442insG ENST00000436786.1 + 0 524 NR_038977.1 GATTAGGGGTTGGGGGGAAGGT 0.406 2 4 --- --- --- --- RP11-162D16.2 0 broad.mit.edu 37 9 124171967 124171968 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:124171967_124171968insT ENST00000440807.1 + 0 85 tagttggcttctttttgccttt 0.366 2 4 --- --- --- --- RP11-343J18.2 0 broad.mit.edu 37 9 128853019 128853020 + RNA INS - - G rs34835338 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr9:128853019_128853020insG ENST00000441473.1 + 0 235 TATTCTGGGTTGGGGGGGACCA 0.505 4 6 --- --- --- --- LINC00708 100507143 broad.mit.edu 37 10 8305896 8305896 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:8305896delA ENST00000428165.1 - 0 271 aaatttcattaaaaaaaaaaa 0.473 4 3 --- --- --- --- RP11-543F8.2 0 broad.mit.edu 37 10 8469388 8469389 + RNA DEL AA AA - rs61622451 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:8469388_8469389delAA ENST00000413286.1 + 0 141 TCCTATATCCAAAAAAAAAAAA 0.441 2 4 --- --- --- --- TMEM72-AS1 220980 broad.mit.edu 37 10 45399946 45399947 + RNA INS - - A rs147150139 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:45399946_45399947insA ENST00000450287.2 - 0 244 RP11-285G1.2_ENST00000436877.2_RNA NR_033842.1 gactccatcttaaaaaaaaaaa 0.520 2 4 --- --- --- --- LINC01468 101928687 broad.mit.edu 37 10 54212419 54212419 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:54212419delT ENST00000435813.2 - 0 331 ATTTGTAAGATTTTTGAGCTG 0.413 2 4 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65699694 65699695 + RNA DEL AG AG - rs34364511 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:65699694_65699695delAG ENST00000444770.1 + 0 494 GGGACATGACAGAGAGTAACTG 0.391 3 4 --- --- --- --- RP11-432J9.6 0 broad.mit.edu 37 10 72705640 72705641 + RNA INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:72705640_72705641insC ENST00000560700.1 + 0 128 tagcacatgcacccccccaagg 0.594 2 4 --- --- --- --- ZNF503-AS1 253264 broad.mit.edu 37 10 77107149 77107150 + RNA INS - - AA rs35170209 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:77107149_77107150insAA ENST00000416398.1 + 0 262 RP11-399K21.11_ENST00000418818.2_lincRNA NR_038223.1 GCAGGGCTGACGAGAGGAGAAC 0.559 4 5 --- --- --- --- RP11-245J24.1 0 broad.mit.edu 37 10 120013763 120013764 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:120013763_120013764insT ENST00000436430.1 + 0 263 TGGGGAGGGGAGGGGAGACAGG 0.460 3 5 --- --- --- --- RP11-282I1.1 0 broad.mit.edu 37 10 125150650 125150650 + RNA DEL C C - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr10:125150650delC ENST00000448347.1 + 0 586 TGTAGTTCATCCCCTGGCTGG 0.567 8 2 --- --- --- --- CYB5R2 51700 broad.mit.edu 37 11 7693706 7693706 + Frame_Shift_Del DEL C C - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:7693706delC ENST00000533558.1 - 3 683 c.127delG c.(127-129)acfs p.D43fs CYB5R2_ENST00000524790.1_Frame_Shift_Del_p.D43fs|CYB5R2_ENST00000299497.9_Frame_Shift_Del_p.D43fs|CYB5R2_ENST00000299498.6_Frame_Shift_Del_p.D43fs Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 43 FAD-binding FR-type. sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAGACATGGTCCGGCGAAGGC 0.547 16 54 --- --- --- --- LOC283299 283299 broad.mit.edu 37 11 7854683 7854685 + RNA DEL ATC ATC - rs35937916 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:7854683_7854685delATC ENST00000527565.1 - 0 542 tgatgcctgtatcatcattatat 0.409 3 6 --- --- --- --- ZBED5-AS1 729013 broad.mit.edu 37 11 10921845 10921846 + RNA DEL GT GT - rs10596848 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:10921845_10921846delGT ENST00000530344.1 + 0 67 TGCtgtgtccgtgtgtgtgtgt 0.480 2 4 --- --- --- --- RP5-1024C24.1 0 broad.mit.edu 37 11 30627839 30627839 + RNA DEL A A - rs76102461 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:30627839delA ENST00000531002.1 + 0 297 ctgtatcaagaaaaaaaaaaa 0.443 2 4 --- --- --- --- RP11-124G5.3 0 broad.mit.edu 37 11 41581268 41581269 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:41581268_41581269insA ENST00000526978.1 - 0 519 ccacagaaagtaaaaaaaaaag 0.351 2 4 --- --- --- --- RP11-124G5.3 0 broad.mit.edu 37 11 41670427 41670428 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:41670427_41670428insT ENST00000526978.1 - 0 149 gcaaaccctgcttttttttgct 0.371 2 4 --- --- --- --- LOC101928989 101928989 broad.mit.edu 37 11 82340227 82340227 + RNA DEL C C - rs144658171 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:82340227delC ENST00000527364.1 - 0 271 aagcttgccgccccagccagc 0.473 2 4 --- --- --- --- CTD-2216M2.1 0 broad.mit.edu 37 11 123078550 123078551 + RNA INS - - T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr11:123078550_123078551insT ENST00000531681.1 + 0 305 TTATAAGTTTGTTTTTttcctc 0.426 2 4 --- --- --- --- CD27-AS1 678655 broad.mit.edu 37 12 6549381 6549381 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:6549381delA ENST00000545339.1 - 0 1250 CD27-AS1_ENST00000399492.2_RNA caacatggtgaaaccacgtct 0.507 2 4 --- --- --- --- SSPN 8082 broad.mit.edu 37 12 26278872 26278873 + RNA INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:26278872_26278873insC ENST00000545819.1 - 0 219 RP11-283G6.3_ENST00000535914.1_RNA CCATCCCCCCGCCCCCCCGCGC 0.619 2 4 --- --- --- --- ANP32D 23519 broad.mit.edu 37 12 48866596 48866597 + Frame_Shift_Ins INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:48866596_48866597insA ENST00000266594.1 + 1 149_150 c.149_150insA c.(148-150)aaafs p.K50fs NM_012404.2 NP_036536.2 O95626 AN32D_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member D 50 p.I50T(1) central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 9 TTAAATACAATCAACATAGGCC 0.396 40 180 --- --- --- --- FLJ12825 440101 broad.mit.edu 37 12 54499109 54499110 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:54499109_54499110insA ENST00000515617.1 + 0 311 NR_026655.1 cccatctctacaaaaaaagcaa 0.510 4 2 --- --- --- --- RP11-150C16.1 0 broad.mit.edu 37 12 59344671 59344671 + RNA DEL G G - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:59344671delG ENST00000547590.1 + 0 226 tgtggtgccaggcaggaatga 0.473 2 4 --- --- --- --- RP11-631N16.2 0 broad.mit.edu 37 12 63004718 63004721 + RNA DEL TGTG TGTG - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:63004718_63004721delTGTG ENST00000550290.1 + 0 84 TAACCTTCTTtgtgtgtgtgtgtg 0.407 3 6 --- --- --- --- FLJ41278 400046 broad.mit.edu 37 12 65357789 65357789 + RNA DEL G G - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:65357789delG ENST00000535058.1 + 0 594 RP11-766N7.4_ENST00000510459.2_lincRNA NR_033988.1 ttcaggagcaggttgctcaat 0.373 2 4 --- --- --- --- IRAK3 11213 broad.mit.edu 37 12 66603295 66603295 + Frame_Shift_Del DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:66603295delT ENST00000261233.4 + 3 797 c.376delT c.(376-378)tcfs p.F126fs IRAK3_ENST00000457197.2_Frame_Shift_Del_p.F65fs NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 126 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) AAATATATTATTCAAGGTAGA 0.348 8 34 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:78400511_78400512insC ENST00000397909.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)cccfs p.P398fs NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAGC 0.495 HNSCC(70;0.22) 7 113 --- --- --- --- RP11-536G4.2 0 broad.mit.edu 37 12 96231057 96231064 + RNA DEL GAGGGAGA GAGGGAGA - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:96231057_96231064delGAGGGAGA ENST00000553194.1 - 0 86 agagagggaggagggagagagggagaga 0.567 5 1 --- --- --- --- FAM101A 144347 broad.mit.edu 37 12 124674432 124674433 + RNA INS - - T rs59449837 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:124674432_124674433insT ENST00000540762.1 + 0 444 cctcctctttcttttttttttt 0.510 3 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962424 131962426 + RNA DEL GAT GAT - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr12:131962424_131962426delGAT ENST00000535133.1 - 0 195 tgataatgaggatgatgatgata 0.384 2 4 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25539913 25539921 + RNA DEL CCTCTGCCT CCTCTGCCT - rs2991008 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr13:25539913_25539921delCCTCTGCCT ENST00000429698.1 - 0 282 ctcactgcaacctctgcctcctgggttca 0.431 2 4 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 34069185 34069186 + RNA INS - - AGT rs10689124 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr13:34069185_34069186insAGT ENST00000454681.2 - 0 226 TTTCCTGCCTACACTTCCGCTA 0.426 3 5 --- --- --- --- RP11-16D22.2 0 broad.mit.edu 37 13 34981514 34981514 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr13:34981514delT ENST00000605909.1 + 0 82 tgattttttattaggatgaca 0.418 2 4 --- --- --- --- LINC00559 100874187 broad.mit.edu 37 13 90719206 90719206 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr13:90719206delA ENST00000569476.1 - 0 3418 NR_047489.1 TCATTTATATAAATCATTTCC 0.269 2 4 --- --- --- --- RP11-116N8.1 0 broad.mit.edu 37 14 36526759 36526759 + RNA DEL T T - rs111244625 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:36526759delT ENST00000550089.1 + 0 417 GGTCTCATACTTTTTTTTTTT 0.388 2 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44743279 44743280 + RNA INS - - G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:44743279_44743280insG ENST00000553827.1 - 0 69 tggtaaaatgtggaaatgggag 0.381 2 4 --- --- --- --- RP11-398E10.1 0 broad.mit.edu 37 14 45240432 45240432 + RNA DEL G G - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:45240432delG ENST00000556405.1 - 0 275 tgtaaacataggttttcattt 0.318 2 4 --- --- --- --- RP11-61O1.1 0 broad.mit.edu 37 14 98539045 98539045 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr14:98539045delA ENST00000555776.1 - 0 270 ACCAAGATGTAAGTCTGAGTT 0.428 2 4 --- --- --- --- HERC2P3 283755 broad.mit.edu 37 15 20631659 20631659 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:20631659delT ENST00000428453.1 - 0 4041 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 gaggtttcacttttttttccc 0.338 3 6 --- --- --- --- NBEAP1 606 broad.mit.edu 37 15 20873109 20873109 + RNA DEL A A - rs111264216 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:20873109delA ENST00000556948.1 - 0 452 gcaactttgtaacttttctgt 0.289 5 4 --- --- --- --- LOC101927079 101927079 broad.mit.edu 37 15 22331642 22331643 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:22331642_22331643insA ENST00000558896.1 + 0 194 ATAGTAAAGACAAAAAATATGA 0.317 3 3 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25483318 25483319 + RNA INS - - G rs140580374 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:25483318_25483319insG ENST00000453082.2 + 0 1979 NR_003343.1 GCGCATCTTGTGGGGGGGCAAT 0.579 4 4 --- --- --- --- FMN1 342184 broad.mit.edu 37 15 33359176 33359176 + Frame_Shift_Del DEL C C - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:33359176delC ENST00000334528.9 - 1 909 c.910delG c.(910-912)acfs p.D304fs FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Frame_Shift_Del_p.D304fs|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 405 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AAAGCTAAGTCCCCATCCTTT 0.512 10 34 --- --- --- --- RP11-323I15.5 0 broad.mit.edu 37 15 35432323 35432324 + RNA INS - - A rs150961888 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:35432323_35432324insA ENST00000559246.1 - 0 74 agatcctgcctaaaaaaaaaaa 0.366 3 5 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 35879914 35879915 + RNA DEL TG TG - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:35879914_35879915delTG ENST00000501169.2 + 0 279 NR_038251.1 ATTGTGAGCATGTGTGTGTGTG 0.406 4 2 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 36087808 36087809 + RNA INS - - AAAC rs59103217 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:36087808_36087809insAAAC ENST00000501169.2 + 0 462 NR_038251.1 actccgtctcaaaacaaacaaa 0.460 6 2 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61899439 61899450 + RNA DEL AGGAAGGAAGGA AGGAAGGAAGGA - rs76475731 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:61899439_61899450delAGGAAGGAAGGA ENST00000559783.1 - 0 35 catGAaagggaggaaggaaggaaggaaggaag 0.491 4 9 --- --- --- --- LOC102723481 102723481 broad.mit.edu 37 15 67248462 67248463 + RNA INS - - G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:67248462_67248463insG ENST00000558436.1 - 0 179 tccctgtgcctgggggggcctg 0.564 2 4 --- --- --- --- RP11-798K3.2 0 broad.mit.edu 37 15 67305872 67305873 + RNA INS - - CC TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:67305872_67305873insCC ENST00000558071.1 - 0 114 CACTCCCCCCACCCCCCATCTA 0.460 2 4 --- --- --- --- CTD-2034I4.1 0 broad.mit.edu 37 15 81746870 81746870 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:81746870delT ENST00000559211.1 + 0 98 tttctctctcttttttttttt 0.423 2 4 --- --- --- --- LOC101926928 101926928 broad.mit.edu 37 15 92007011 92007014 + RNA DEL TTGA TTGA - rs150084691 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:92007011_92007014delTTGA ENST00000554333.1 + 0 295 gtatacatgtttgattattttctt 0.412 4 3 --- --- --- --- RP11-152L20.3 0 broad.mit.edu 37 15 92810991 92810992 + RNA INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:92810991_92810992insC ENST00000561674.1 - 0 185 TCCTCTGACCACCCCCTTTAGA 0.411 2 4 --- --- --- --- LINC01581 101927112 broad.mit.edu 37 15 94516968 94516969 + RNA INS - - C rs142439738 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:94516968_94516969insC ENST00000558874.1 - 0 1765 CTD-2643K12.2_ENST00000555364.1_lincRNA ATTCATGATTTCCCCCCCCAGA 0.332 2 4 --- --- --- --- LINC01581 101927112 broad.mit.edu 37 15 94592880 94592880 + RNA DEL A A - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr15:94592880delA ENST00000558874.1 - 0 1141 AAAAGTGACTAAAAAATCAGT 0.378 2 4 --- --- --- --- LOC101927009 101927009 broad.mit.edu 37 16 9467302 9467302 + RNA DEL G G - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:9467302delG ENST00000564305.1 + 0 193 cccccatggtggggggggcgg 0.532 2 4 --- --- --- --- CTA-481E9.4 0 broad.mit.edu 37 16 18061962 18061962 + RNA DEL A A - rs72396467 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:18061962delA ENST00000567304.1 - 0 251 GCAATCTTTTAAAAAAAAAAA 0.403 2 4 --- --- --- --- RP11-252E2.2 0 broad.mit.edu 37 16 75155068 75155068 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:75155068delT ENST00000563098.1 + 0 25 ttcttttttgttttttttttt 0.418 2 4 --- --- --- --- CTD-2336H13.2 0 broad.mit.edu 37 16 76936444 76936445 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr16:76936444_76936445insA ENST00000567777.1 + 0 138 acttcatttacaaaaaaacagg 0.361 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579582 7579583 + Frame_Shift_Ins INS - - A rs121912661 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:7579582_7579583insA ENST00000420246.2 - 4 236_237 c.104_105insT c.(103-105)tccfs p.S35fs TP53_ENST00000445888.2_Frame_Shift_Ins_p.S35fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S35fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S35fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S35fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S35fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 35 Interaction with HRMT1L2.|Transcription activation (acidic). L -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L35fs*8(4)|p.L35F(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S33fs*6(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTTGGGACGGCAAGGGGGACTG 0.599 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 102 340 --- --- --- --- CTC-501O10.1 0 broad.mit.edu 37 17 41777035 41777036 + RNA INS - - G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:41777035_41777036insG ENST00000593169.1 + 0 93 TGGGAGGGGATGGGGGGGTGAC 0.475 2 4 --- --- --- --- RP11-893F2.5 0 broad.mit.edu 37 17 48290557 48290558 + RNA INS - - C rs146824499 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:48290557_48290558insC ENST00000509943.1 + 0 399 RP11-893F2.15_ENST00000577175.1_RNA TTGCTGGGGCTTCCCCCCTGgc 0.554 4 9 --- --- --- --- LINC01482 101928104 broad.mit.edu 37 17 66652728 66652728 + RNA DEL G G - rs148607395 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr17:66652728delG ENST00000585484.1 + 0 129 TAACCGGAATGGGTACCTCAA 0.403 2 4 --- --- --- --- RP11-746B8.1 0 broad.mit.edu 37 18 30444122 30444122 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:30444122delT ENST00000580366.1 + 0 27 TCtggtatggtttgaatgtgt 0.443 2 4 --- --- --- --- RP11-636O21.1 0 broad.mit.edu 37 18 37481016 37481016 + RNA DEL T T - rs151037405 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:37481016delT ENST00000585822.1 - 0 218 gcagagagtatttaaacatat 0.388 5 1 --- --- --- --- RP11-325K19.1 0 broad.mit.edu 37 18 58554076 58554077 + RNA DEL GT GT - rs72201904 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:58554076_58554077delGT ENST00000591869.1 - 0 38 TGCTTTTGGGgtgtgtgtgtgt 0.455 3 3 --- --- --- --- LOC284294 284294 broad.mit.edu 37 18 61805081 61805082 + RNA INS - - ACAC rs34096602 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:61805081_61805082insACAC ENST00000589376.1 + 0 200 LINC00305_ENST00000323355.3_lincRNA NR_033881.1 Tacacacacatacacacacaca 0.327 3 4 --- --- --- --- LINC01538 400654 broad.mit.edu 37 18 61891532 61891532 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr18:61891532delT ENST00000588074.1 - 0 443 RP11-146N18.1_ENST00000589376.1_lincRNA NR_033983.1 catgtggtccttttttttccc 0.348 2 4 --- --- --- --- RAVER1 125950 broad.mit.edu 37 19 10433827 10433828 + Frame_Shift_Ins INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr19:10433827_10433828insC ENST00000293677.6 - 5 1203_1204 c.1122_1123insG c.(1120-1125)ggagcafs p.A375fs NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 358 Interaction with PTBP1 (By similarity). cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TTACCCTGCTTCCCCCCCGCAC 0.668 3 6 --- --- --- --- LOC727993 727993 broad.mit.edu 37 20 1945066 1945066 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:1945066delT ENST00000446562.1 + 0 476 gttttggctcttttttttttg 0.403 3 6 --- --- --- --- RP11-103J8.1 0 broad.mit.edu 37 20 10948588 10948588 + RNA DEL C C - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:10948588delC ENST00000605292.1 + 0 439 ggaaaaatgaccatttgccag 0.403 2 4 --- --- --- --- RP4-734C18.1 0 broad.mit.edu 37 20 11251336 11251337 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:11251336_11251337insA ENST00000444792.1 - 0 432 GCTAGaaaaacaaaaaacaaaa 0.426 2 4 --- --- --- --- DLGAP4-AS1 101926987 broad.mit.edu 37 20 35190198 35190198 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr20:35190198delT ENST00000439595.1 - 0 467 RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA gccactgtgctccagcctaag 0.458 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11036712 11036713 + RNA INS - - AA rs150393967 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:11036712_11036713insAA ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTGACTTTAACAAAAAAATAGC 0.337 5 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11040447 11040447 + RNA DEL A A - rs145874834 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:11040447delA ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGGTAAGGATAAAAGAAAACT 0.343 4 7 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11063160 11063161 + RNA INS - - A rs147852817 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:11063160_11063161insA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aaacgctatccaaaaaatgcag 0.282 5 9 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11094409 11094409 + RNA DEL C C - rs61674188 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:11094409delC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTTAGCATGCAAAAATTATT 0.274 7 2 --- --- --- --- AP000233.4 0 broad.mit.edu 37 21 26611867 26611867 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:26611867delT ENST00000409758.1 - 0 89 aacaatttcatttacaatagc 0.318 2 4 --- --- --- --- AF096876.1 0 broad.mit.edu 37 21 31466644 31466644 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:31466644delT ENST00000565564.1 + 0 275 TGTTGCCCTATTCTTCAGCAT 0.373 2 4 --- --- --- --- LOC101928233 101928233 broad.mit.edu 37 21 44030057 44030060 + RNA DEL CGCA CGCA - rs67305845 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr21:44030057_44030060delCGCA ENST00000419628.1 - 0 206 gccatgtgaccgcacccaaccaca 0.529 3 4 --- --- --- --- CRYBB2P1 1416 broad.mit.edu 37 22 25868170 25868171 + RNA INS - - G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr22:25868170_25868171insG ENST00000354451.2 + 0 366 CAAGGCTGGCagggggtaaggg 0.550 2 4 --- --- --- --- LARGE 9215 broad.mit.edu 37 22 33593904 33593905 + RNA DEL AT AT - rs72565599 TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr22:33593904_33593905delAT ENST00000421232.1 - 0 150 ataaacagacatatggatcaat 0.312 5 2 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35369625 35369625 + RNA DEL T T - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chr22:35369625delT ENST00000448318.4 - 0 1184 GAAGTCCCACTAACCACATCT 0.428 2 4 --- --- --- --- PTCHD1-AS 100873065 broad.mit.edu 37 X 22444900 22444903 + RNA DEL GTGT GTGT - TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:22444900_22444903delGTGT ENST00000455399.1 - 0 312 TGTATCACGGGTGTGTGTGTGTGT 0.368 2 4 --- --- --- --- RP11-268G12.1 0 broad.mit.edu 37 X 27318676 27318677 + RNA INS - - A rs111930568 by1000genomes TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:27318676_27318677insA ENST00000422048.1 - 0 232 atgaaggtgaggaaaaaaccat 0.421 2 4 --- --- --- --- FRMPD3-AS1 100874122 broad.mit.edu 37 X 106761782 106761783 + RNA INS - - A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:106761782_106761783insA ENST00000415252.1 - 0 107 aaggctattataaaaaaaaatg 0.356 2 4 --- --- --- --- EMD 2010 broad.mit.edu 37 X 153608114 153608115 + Frame_Shift_Ins INS - - C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577f7267-c568-4002-a153-26c09d1eca97 fb9321cb-70ad-4dd6-9f9e-e4e2d45404dd g.chrX:153608114_153608115insC ENST00000369842.4 + 2 435_436 c.147_148insC c.(145-150)tcccccfs p.SP49fs EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin 49 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCGGCTCTCGCCCCCCAGCTC 0.678 2 4 --- --- --- ---