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 HCFC2 29915 broad.mit.edu 37 12 104492210 104492210 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:104492210G>T ENST00000229330.4 + 13 1934 c.1830G>T c.(1828-1830)ttG>ttT p.L610F HCFC2_ENST00000550335.1_3'UTR NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 610 Fibronectin type-III 2. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 ATACAGCTTTGGTGAGCCAGT 0.378000 30 42 3.73988e-18 4.32021e-18 0.030593 1 0 ZFP30 22835 broad.mit.edu 37 19 38127001 38127001 + Silent SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:38127001C>G ENST00000351218.2 - 6 998 c.441G>C c.(439-441)ctG>ctC p.L147L ZFP30_ENST00000392144.1_Silent_p.L147L|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Silent_p.L147L NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTCTGATACAGAGGAAGAG 0.393000 22 150 0 0 0.062417 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66126548 66126548 + RNA SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:66126548G>A ENST00000590019.1 - 0 298 CTACCACAGGGCTGGGCAGAA 0.488000 6 32 0 0 0.029380 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999984 46999984 + Silent SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr10:46999984G>T ENST00000374314.4 + 1 2059 c.1104G>T c.(1102-1104)ctG>ctT p.L368L GPRIN2_ENST00000374317.1_Silent_p.L368L O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 368 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 AGGTAACTCTGGGGTCCAGCC 0.672000 10 85 7.48243e-07 7.99983e-07 0.058154 1 0 ABCC11 85320 broad.mit.edu 37 16 48250115 48250115 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr16:48250115C>T ENST00000394747.1 - 6 1210 c.861G>A c.(859-861)tcG>tcA p.S287S ABCC11_ENST00000537808.1_Silent_p.S287S|ABCC11_ENST00000394748.1_Silent_p.S287S|ABCC11_ENST00000356608.2_Silent_p.S287S|ABCC11_ENST00000353782.5_Silent_p.S287S NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 287 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGATGACCAGCGATGCGCAGG 0.468000 27 114 0 0 0.030593 0 0 MECOM 2122 broad.mit.edu 37 3 168838896 168838896 + Silent SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:168838896C>A ENST00000464456.1 - 6 1716 c.516G>T c.(514-516)tcG>tcT p.S172S MECOM_ENST00000460814.1_Silent_p.S172S|MECOM_ENST00000468789.1_Silent_p.S172S|MECOM_ENST00000472280.1_Silent_p.S173S|MECOM_ENST00000264674.3_Silent_p.S237S|MECOM_ENST00000433243.2_Silent_p.S173S|MECOM_ENST00000392736.3_Silent_p.S172S|MECOM_ENST00000494292.1_Silent_p.S360S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGAGGCCCGACGAAGTGGCAA 0.552000 19 39 5.03518e-11 5.59156e-11 0.043863 1 0 PKDREJ 10343 broad.mit.edu 37 22 46654890 46654890 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr22:46654890T>C ENST00000253255.5 - 1 4329 c.4330A>G c.(4330-4332)Ata>Gta p.I1444V NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1444 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAAAAAGTTATTAATAATTGC 0.378000 17 55 0 0 0.033300 0 0 TUBA3C 7278 broad.mit.edu 37 13 19755884 19755884 + Splice_Site SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr13:19755884C>T ENST00000400113.3 - 1 108 c.e1+1 NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCTGGCCTTACCATGTTGAGC 0.672000 17 11 0 0 0.033300 0 0 NUMB 8650 broad.mit.edu 37 14 73749071 73749071 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr14:73749071G>T ENST00000556772.1 - 5 2947 c.660C>A c.(658-660)ttC>ttA p.F220L NUMB_ENST00000359560.3_Missense_Mutation_p.F353L|NUMB_ENST00000560335.1_Missense_Mutation_p.F266L|NUMB_ENST00000355058.3_Missense_Mutation_p.F364L|NUMB_ENST00000454166.4_Missense_Mutation_p.F266L|NUMB_ENST00000557597.1_Missense_Mutation_p.F353L|NUMB_ENST00000555238.1_Missense_Mutation_p.F364L|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000554546.1_Missense_Mutation_p.F353L|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.F353L|NUMB_ENST00000555738.2_Missense_Mutation_p.F255L|NUMB_ENST00000356296.4_Missense_Mutation_p.F364L|NUMB_ENST00000555394.1_Missense_Mutation_p.F364L P49757 NUMB_HUMAN numb homolog (Drosophila) 364 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) accaaccttggaaggtaggag 0.512000 7 30 5.18039e-06 5.50931e-06 0.038147 1 0 OR10R2 343406 broad.mit.edu 37 1 158450008 158450008 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:158450008T>C ENST00000368152.1 + 1 341 c.341T>C c.(340-342)tTc>tCc p.F114S RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) ACAATCTCCTTCAACTGTTGT 0.438000 140 117 0 0 0.048971 0 0 TSTA3 7264 broad.mit.edu 37 8 144697068 144697068 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:144697068C>A ENST00000425753.2 - 4 382 c.279G>T c.(277-279)atG>atT p.M93I TSTA3_ENST00000529064.1_Missense_Mutation_p.M93I NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 93 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) CGTTGTCGTTCATGTGCACGT 0.607000 21 62 5.45024e-15 6.25999e-15 0.018920 1 0 SLC13A1 6561 broad.mit.edu 37 7 122808429 122808429 + Splice_Site SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:122808429T>A ENST00000194130.2 - 6 698 c.660_splice c.e6+1 p.K220_splice SLC13A1_ENST00000539873.1_Splice_Site_p.K156_splice NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 220 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TTTATGTACCTTTTCCAACTC 0.254000 11 9 0 0 0.020292 0 0 NUAK1 9891 broad.mit.edu 37 12 106461007 106461007 + Missense_Mutation SNP C C T rs117517173 byFrequency TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:106461007C>T ENST00000261402.2 - 7 2938 c.1559G>A c.(1558-1560)cGg>cAg p.R520Q NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 520 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GCCCTTCCTCCGGCAGGAGAG 0.607000 4 96 0 0 0.021553 0 0 EP300 2033 broad.mit.edu 37 22 41566521 41566521 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr22:41566521G>C ENST00000263253.7 + 27 5617 c.4398G>C c.(4396-4398)tgG>tgC p.W1466C RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1466 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGCAGGAATGGTACAAAAAAA 0.473000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 30 50 0 0 0.034045 0 0 USH2A 7399 broad.mit.edu 37 1 216348641 216348641 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:216348641T>C ENST00000366943.2 - 21 4966 c.4580A>G c.(4579-4581)tAt>tGt p.Y1527C USH2A_ENST00000307340.3_Missense_Mutation_p.Y1527C|USH2A_ENST00000366942.3_Missense_Mutation_p.Y1527C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1527 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAATTTACAATACCCATTTCC 0.423000 HNSCC(13;0.011) 10 55 0 0 0.069234 0 0 SNX20 124460 broad.mit.edu 37 16 50709754 50709754 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr16:50709754C>A ENST00000300590.3 - 3 381 c.209G>T c.(208-210)cGc>cTc p.R70L SNX20_ENST00000330943.4_Missense_Mutation_p.R70L|SNX20_ENST00000423026.2_Missense_Mutation_p.R70L NM_153337.2 NP_699168.1 Q7Z614 SNX20_HUMAN sorting nexin 20 70 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 GTGCTTCCAGCGGCATTTCTG 0.522000 12 57 0.000978159 0.00100826 0.010729 1 0 FLT1 2321 broad.mit.edu 37 13 28896990 28896990 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr13:28896990C>T ENST00000282397.4 - 21 3141 c.2890G>A c.(2890-2892)Gaa>Aaa p.E964K FLT1_ENST00000540678.1_Missense_Mutation_p.E182K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 964 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCAAAGCTTTCGCTGCTGGTG 0.478000 4 109 0 0 0.009096 0 0 ERN1 2081 broad.mit.edu 37 17 62126509 62126509 + Silent SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:62126509A>T ENST00000433197.2 - 18 2402 c.2307T>A c.(2305-2307)tcT>tcA p.S769S NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 769 Protein kinase. S -> F (in a glioblastoma multiforme sample; somatic mutation). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GGCTGCCCTCAGAGATTACGT 0.557000 18 23 0 0 0.055883 0 0 WDR7 23335 broad.mit.edu 37 18 54385258 54385258 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr18:54385258C>T ENST00000254442.3 + 13 1853 c.1642C>T c.(1642-1644)Cga>Tga p.R548* WDR7_ENST00000357574.3_Nonsense_Mutation_p.R548*|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 548 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TCTAAGTTTGCGAGAGAAAAA 0.408000 21 35 0 0 0.062417 0 0 FBXO44 93611 broad.mit.edu 37 1 11718615 11718615 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:11718615G>A ENST00000376770.1 + 5 916 c.418G>A c.(418-420)Gac>Aac p.D140N FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.G130E|FBXO44_ENST00000251547.5_Missense_Mutation_p.D140N NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 140 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGTGGTGGACCTCAAGGC 0.662000 24 5 0 0 0.018920 0 0 FREM2 341640 broad.mit.edu 37 13 39266020 39266020 + Silent SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr13:39266020T>C ENST00000280481.7 + 1 4755 c.4539T>C c.(4537-4539)gaT>gaC p.D1513D NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1513 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AAGTCACCGATGGACGTAACC 0.453000 18 57 0 0 0.033300 0 0 OR6K2 81448 broad.mit.edu 37 1 158669969 158669969 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:158669969C>G ENST00000359610.2 - 1 517 c.474G>C c.(472-474)gaG>gaC p.E158D NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TCCAGGCAATCTCAGGAAGGG 0.483000 11 45 0 0 0.010729 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) 14 25 0 0 0.024245 0 0 MTCP1 4515 broad.mit.edu 37 X 154294265 154294265 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:154294265C>T ENST00000369476.3 - 2 600 c.21G>A c.(19-21)ggG>ggA p.G7G CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_Intron|MTCP1_ENST00000362018.2_Silent_p.G7G NM_001018025.3 NP_001018025.1 P56278 MTCP1_HUMAN mature T-cell proliferation 1 7 cell proliferation large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGGTGGAGCCCCCACATCCT 0.572000 T TRA@ T cell prolymphocytic leukemia 11 16 0 0 0.069234 0 0 ASAP2 8853 broad.mit.edu 37 2 9528612 9528612 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:9528612G>C ENST00000281419.3 + 22 2660 c.2320G>C c.(2320-2322)Gcc>Ccc p.A774P ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Missense_Mutation_p.A774P NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 774 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 CCCACCTCCCGCCCAGCCTGC 0.587000 4 23 0 0 0.047766 0 0 RAD50 10111 broad.mit.edu 37 5 131915147 131915147 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:131915147A>G ENST00000378823.3 + 4 905 c.87A>G c.(85-87)gaA>gaG p.E29E RAD50_ENST00000265335.6_Silent_p.E168E NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 168 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTTAAGTGAAGGAAAGGCTT 0.348000 Homologous recombination 44 11 0 0 0.042209 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 27 0 0 0.009096 0 0 UBXN2B 137886 broad.mit.edu 37 8 59352288 59352288 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:59352288G>A ENST00000399598.2 + 6 752 c.630G>A c.(628-630)ttG>ttA p.L210L NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 210 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 AACCTAGATTGAGGTTCAAGG 0.378000 6 65 0 0 0.021553 0 0 FSTL5 56884 broad.mit.edu 37 4 162307172 162307172 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:162307172G>A ENST00000306100.5 - 16 2707 c.2271C>T c.(2269-2271)taC>taT p.Y757Y FSTL5_ENST00000536695.1_Silent_p.Y756Y|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.Y756Y|FSTL5_ENST00000427802.2_Silent_p.Y747Y NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 757 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGAACTACCGTAGATGTTAT 0.418000 4 69 0 0 0.009096 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565249 58565249 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:58565249C>T ENST00000282326.1 + 6 1304 c.1057C>T c.(1057-1059)Cgg>Tgg p.R353W NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 353 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GAAAGCCCCCCGGAGCAAGGG 0.662000 27 11 0 0 0.030593 0 0 PLCZ1 89869 broad.mit.edu 37 12 18872484 18872484 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:18872484A>G ENST00000266505.7 - 5 713 c.450T>C c.(448-450)tgT>tgC p.C150C PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Silent_p.C13C|PLCZ1_ENST00000447925.2_Silent_p.C148C|RP11-361I14.2_ENST00000536931.1_RNA Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 150 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAACTTTTCTACATTCATTTT 0.279000 3 17 0 0 0.004672 0 0 PTPRO 5800 broad.mit.edu 37 12 15669884 15669884 + Silent SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:15669884A>T ENST00000281171.4 + 9 2103 c.1773A>T c.(1771-1773)gcA>gcT p.A591A PTPRO_ENST00000543886.1_Silent_p.A591A|PTPRO_ENST00000348962.2_Silent_p.A591A NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 591 Fibronectin type-III 6. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CCTTAACTGCATCCGTGGTAA 0.373000 59 82 0 0 0.048971 0 0 SH3BGRL2 83699 broad.mit.edu 37 6 80406206 80406206 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:80406206A>T ENST00000369838.4 + 3 415 c.236A>T c.(235-237)tAt>tTt p.Y79F NM_031469.2 NP_113657.1 Q9UJC5 SH3L2_HUMAN SH3 domain binding glutamic acid-rich protein like 2 79 nucleus SH3 domain binding large_intestine(2)|lung(3) 5 all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174) BRCA - Breast invasive adenocarcinoma(397;0.0278) TTCTAGGATTATGACAGTTTT 0.308000 42 19 0 0 0.033182 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 79 0 0 0.029380 0 0 PROM2 150696 broad.mit.edu 37 2 95947688 95947688 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:95947688G>A ENST00000317620.9 + 13 1700 c.1567G>A c.(1567-1569)Ggg>Agg p.G523R PROM2_ENST00000542147.1_Missense_Mutation_p.G523R|PROM2_ENST00000403131.2_Missense_Mutation_p.G523R|PROM2_ENST00000317668.4_Missense_Mutation_p.G523R NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 523 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 AGACACCCCAGGGAACCTGCC 0.627000 19 39 0 0 0.055883 0 0 GPR152 390212 broad.mit.edu 37 11 67219165 67219165 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:67219165G>A ENST00000312457.2 - 1 1035 c.1031C>T c.(1030-1032)cCg>cTg p.P344L NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 344 integral to membrane|plasma membrane G-protein coupled receptor activity p.P344L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CTCTGCCATCGGCTCTGGCAG 0.637000 12 31 0 0 0.010729 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898786 130898786 + Missense_Mutation SNP C C T rs138034003 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:130898786C>T ENST00000261655.4 - 14 2699 c.2536G>A c.(2536-2538)Gaa>Aaa p.E846K NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 846 cell junction|synapse p.E846K(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGGAGCTCTTCGGCACCAGGG 0.567000 29 57 0 0 0.041601 0 0 ZNF276 92822 broad.mit.edu 37 16 89789220 89789220 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr16:89789220G>A ENST00000289816.5 + 2 574 c.262G>A c.(262-264)Ggt>Agt p.G88S ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 163 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCCCCGGCTGGTCGCCGGAA 0.592000 7 45 0 0 0.010729 0 0 THAP5 168451 broad.mit.edu 37 7 108205290 108205290 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:108205290G>C ENST00000415914.3 - 3 686 c.533C>G c.(532-534)tCt>tGt p.S178C THAP5_ENST00000313516.5_Missense_Mutation_p.S136C|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 178 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 TTCCAAGGTAGATTCTGGTTT 0.348000 6 24 0 0 0.029380 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 35 0 0 0.014758 0 0 SSFA2 6744 broad.mit.edu 37 2 182783567 182783567 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:182783567G>A ENST00000431877.2 + 13 3130 c.2951G>A c.(2950-2952)cGt>cAt p.R984H SSFA2_ENST00000320370.7_Missense_Mutation_p.R984H|SSFA2_ENST00000409001.1_Missense_Mutation_p.R984H|SSFA2_ENST00000428267.2_Missense_Mutation_p.R831H|SSFA2_ENST00000409136.1_Missense_Mutation_p.R493H NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 984 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GCAATGCTGCGTCAGCAAACC 0.383000 19 64 0 0 0.062417 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376561 138376561 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:138376561G>A ENST00000356818.2 + 4 754 c.205G>A c.(205-207)Gca>Aca p.A69T PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A69T NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 69 nucleolus protein binding TGAGCGCGCCGCACAGAGGGG 0.706000 50 48 0 0 0.048971 0 0 EFTUD2 9343 broad.mit.edu 37 17 42940103 42940103 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:42940103G>A ENST00000426333.2 - 16 1882 c.1585C>T c.(1585-1587)Cgc>Tgc p.R529C EFTUD2_ENST00000402521.3_Missense_Mutation_p.R494C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R519C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R529C NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 529 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) ATCCAAAGGCGGCCCACGGTG 0.597000 3 24 0 0 0.004672 0 0 PRSS48 345062 broad.mit.edu 37 4 152212572 152212572 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:152212572G>C ENST00000455694.2 + 5 956 c.954G>C c.(952-954)gaG>gaC p.E318D PRSS48_ENST00000441586.2_Missense_Mutation_p.E175D|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 318 proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 GCTGGGAAGAGAATGCATGGA 0.473000 16 6 0 0 0.033300 0 0 OPRD1 4985 broad.mit.edu 37 1 29185555 29185555 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:29185555G>A ENST00000234961.2 + 2 559 c.317G>A c.(316-318)aGt>aAt p.S106N NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 106 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CCTTTCCAGAGTGCCAAGTAC 0.537000 52 20 0 0 0.048971 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139651 101139651 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:101139651A>T ENST00000372782.3 - 7 795 c.748T>A c.(748-750)Ttg>Atg p.L250M ZMAT1_ENST00000458570.1_Missense_Mutation_p.L79M|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L250M|ZMAT1_ENST00000494068.1_5'UTR NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 79 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 CGGGTTTCCAAAGAACTCTCT 0.443000 39 53 0 0 0.027894 0 0 CCDC132 55610 broad.mit.edu 37 7 92979234 92979234 + Nonstop_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:92979234A>T ENST00000541136.1 + 24 2343 c.1781A>T c.(1780-1782)tAg>tTg p.*594L CCDC132_ENST00000535481.1_Silent_p.V504V|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Silent_p.V754V|CCDC132_ENST00000305866.5_Silent_p.V784V Q96JG6 CC132_HUMAN coiled-coil domain containing 132 0 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACTGGATTGTAGCTGGTAAAG 0.338000 17 88 0 0 0.038395 0 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:7577574T>C ENST00000420246.2 - 7 839 c.707A>G c.(706-708)tAc>tGc p.Y236C TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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) GTTACACATGTAGTTGTAGTG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 29 0 0 0.050027 0 0 FOXF2 2295 broad.mit.edu 37 6 1395022 1395022 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:1395022C>T ENST00000259806.1 + 2 1377 c.1263C>T c.(1261-1263)ccC>ccT p.P421P NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 421 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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 factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CTTTCCATCCCTCAGCTAGCG 0.507000 25 45 0 0 0.021523 0 0 SLC7A11 23657 broad.mit.edu 37 4 139103507 139103507 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:139103507T>C ENST00000280612.5 - 9 1339 c.1060A>G c.(1060-1062)Atc>Gtc p.I354V NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 354 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) ATGGAGAGGATTTCTGGAAGG 0.393000 16 8 0 0 0.033300 0 0 ZNF208 7757 broad.mit.edu 37 19 22155123 22155123 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:22155123T>G ENST00000397126.4 - 4 2861 c.2713A>C c.(2713-2715)Act>Cct p.T905P ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCATGTTTAGTAAGGATGGAG 0.378000 8 28 0 0 0.047766 0 0 ZNF750 79755 broad.mit.edu 37 17 80790065 80790065 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:80790065T>A ENST00000269394.3 - 2 1099 c.266A>T c.(265-267)aAg>aTg p.K89M TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 89 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGCGACAGACTTGGAAGAGGC 0.557000 22 52 0 0 0.021523 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518384 161518384 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:161518384C>T ENST00000367969.3 - 3 437 c.254G>A c.(253-255)gGa>gAa p.G85E FCGR3A_ENST00000540048.1_Missense_Mutation_p.G49E|FCGR3A_ENST00000436743.1_Missense_Mutation_p.G49E|FCGR3A_ENST00000443193.1_Missense_Mutation_p.G84E|FCGR3A_ENST00000476031.1_5'UTR NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 49 Ig-like C2-type 1. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGAGTAGGCTCCCTGGCACTT 0.542000 33 247 0 0 0.054565 0 0 OR1N2 138882 broad.mit.edu 37 9 125316085 125316085 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:125316085G>A ENST00000373688.2 + 1 695 c.637G>A c.(637-639)Gag>Aag p.E213K NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CCATGTAAACGAGCTGATGAT 0.517000 92 61 0 0 0.048971 0 0 ACSM4 341392 broad.mit.edu 37 12 7469736 7469736 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:7469736C>T ENST00000399422.4 + 4 672 c.624C>T c.(622-624)ttC>ttT p.F208F NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 208 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.F208F(2) endometrium(6)|kidney(1)|lung(14) 21 TTTGCAGATTCGCCTCTGAAG 0.483000 10 23 0 0 0.010729 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1963138 1963138 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:1963138G>A ENST00000382722.5 - 23 2587 c.2225C>T c.(2224-2226)gCg>gTg p.A742V CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A717V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A742V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A603V|CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A678V NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 742 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GAGGGCCAGCGCTGTCCAGTA 0.617000 4 15 0 0 0.014758 0 0 ATF7IP 55729 broad.mit.edu 37 12 14591118 14591118 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:14591118G>A ENST00000544627.1 + 5 2190 c.1870G>A c.(1870-1872)Gat>Aat p.D624N ATF7IP_ENST00000540793.1_Missense_Mutation_p.D616N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D615N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D616N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D615N Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 616 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TGCTGTATTTGATAAGACTTT 0.383000 10 36 0 0 0.058154 0 0 FAT1 2195 broad.mit.edu 37 4 187524462 187524462 + Nonsense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:187524462C>A ENST00000441802.2 - 19 11427 c.11218G>T c.(11218-11220)Gga>Tga p.G3740* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3740 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAGTCCAGTCCCGCGCAGAGT 0.468000 HNSCC(5;0.00058) 17 8 0.00152264 0.00155356 0.055883 1 0 PNMT 5409 broad.mit.edu 37 17 37826489 37826489 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:37826489G>A ENST00000269582.2 + 3 1014 c.696G>A c.(694-696)gtG>gtA p.V232V PNMT_ENST00000394246.1_Silent_p.V134V NM_002686.3 NP_002677.1 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 232 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGACGGTGGTGCCAGTGTCTG 0.662000 9 4 0 0 0.058154 0 0 DIDO1 11083 broad.mit.edu 37 20 61512534 61512534 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr20:61512534C>T ENST00000266070.4 - 16 5099 c.4774G>A c.(4774-4776)Gag>Aag p.E1592K DIDO1_ENST00000395343.1_Missense_Mutation_p.E1592K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1592 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GCATCTCTCTCGGGCAGGGCA 0.711000 13 15 0 0 0.016723 0 0 MRPL23 6150 broad.mit.edu 37 11 1973401 1973401 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:1973401A>G ENST00000381514.3 + 3 207 c.185A>G c.(184-186)aAc>aGc p.N62S MRPL23_ENST00000397294.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397298.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397297.3_Missense_Mutation_p.N62S|MRPL23_ENST00000381519.1_Missense_Mutation_p.N62S Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 62 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGCATCTATAACGTGCCCGTG 0.552000 25 20 0 0 0.027356 0 0 GLCCI1 113263 broad.mit.edu 37 7 8126118 8126118 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:8126118G>A ENST00000223145.5 + 8 2151 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 532 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GCTCCTGCAGGAACTGCAGGG 0.547000 49 152 0 0 0.048971 0 0 GABRB1 2560 broad.mit.edu 37 4 47428009 47428009 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:47428009G>T ENST00000295454.3 + 9 1691 c.1399G>T c.(1399-1401)Gtc>Ttc p.V467F GABRB1_ENST00000538619.1_Missense_Mutation_p.V397F NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 467 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTTTAATGTCGTCTATTGGCT 0.418000 46 27 8.04919e-23 9.40632e-23 0.048971 1 0 FAM208A 23272 broad.mit.edu 37 3 56667140 56667140 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:56667140C>T ENST00000431842.2 - 11 3292 c.2368G>A c.(2368-2370)Gtc>Atc p.V790I FAM208A_ENST00000355628.5_Missense_Mutation_p.V1166I|FAM208A_ENST00000493960.2_Missense_Mutation_p.V1227I NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 1227 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 TTTTTCTGGACGTCTTTCATG 0.328000 30 18 0 0 0.030593 0 0 MCHR2 84539 broad.mit.edu 37 6 100382303 100382303 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:100382303C>A ENST00000281806.2 - 5 992 c.678G>T c.(676-678)gaG>gaT p.E226D MCHR2_ENST00000445970.1_Missense_Mutation_p.E226D|MCHR2_ENST00000369212.1_Missense_Mutation_p.E226D NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 226 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GTTGATACATCTCCCAAGTAT 0.308000 14 54 1.5842e-08 1.74002e-08 0.016723 1 0 PLEKHG5 57449 broad.mit.edu 37 1 6531696 6531696 + Splice_Site SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:6531696A>T ENST00000377748.1 - 13 1861 c.1362_splice c.e13-1 p.V455_splice PLEKHG5_ENST00000535355.1_Splice_Site_p.V447_splice|PLEKHG5_ENST00000544978.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.V457_splice|PLEKHG5_ENST00000377737.2_Splice_Site_p.V378_splice|PLEKHG5_ENST00000400915.3_Splice_Site_p.V434_splice|PLEKHG5_ENST00000400913.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.V415_splice|PLEKHG5_ENST00000377725.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377728.3_Splice_Site_p.V378_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.V455_splice NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 434 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CTCCGCCTCCACCTGGGCGCG 0.736000 5 0 0 0 0.014758 0 0 LAMA2 3908 broad.mit.edu 37 6 129637295 129637295 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:129637295G>A ENST00000421865.2 + 27 4086 c.4037G>A c.(4036-4038)gGa>gAa p.G1346E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1346 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCTACTTATGGAAATTTCATG 0.343000 14 15 0 0 0.024245 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22487097 22487097 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:22487097G>A ENST00000396037.4 - 1 551 c.70C>T c.(70-72)Ccg>Tcg p.P24S ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.P24S|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.P24S NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 24 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 CGGGTCCGCGGGAACTTCCAC 0.692000 67 85 0 0 0.048971 0 0 DCDC1 341019 broad.mit.edu 37 11 31123808 31123808 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:31123808A>G ENST00000597505.1 - 13 1898 c.1899T>C c.(1897-1899)ttT>ttC p.F633F DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) AATTAATTGGAAATCCCTCAC 0.308000 6 7 0 0 0.029380 0 0 LOC644669 644669 broad.mit.edu 37 18 15323340 15323340 + RNA SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr18:15323340A>G ENST00000455308.2 - 0 508 NR_027417.1 CTTATGGCCAATAAAAGTGGT 0.299000 2 3 0 0 0.004672 0 0 GDAP1 54332 broad.mit.edu 37 8 75276509 75276509 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:75276509G>A ENST00000220822.7 + 6 1064 c.984G>A c.(982-984)ttG>ttA p.L328L GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Silent_p.L260L NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 328 cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TGGTTGGTTTGCTTGCAGGAG 0.433000 21 46 0 0 0.049695 0 0 ZNF511 118472 broad.mit.edu 37 10 135123687 135123687 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr10:135123687G>A ENST00000359035.3 + 4 452 c.449G>A c.(448-450)gGc>gAc p.G150D ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.G85D|ZNF511_ENST00000361518.5_Missense_Mutation_p.G150D Q8NB15 ZN511_HUMAN zinc finger protein 511 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) TTGGTAGAAGGCTGCACAGAG 0.582000 52 72 0 0 0.048971 0 0 ZEB2 9839 broad.mit.edu 37 2 145187516 145187516 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:145187516C>T ENST00000558170.2 - 3 1335 c.151G>A c.(151-153)Ggt>Agt p.G51S ZEB2_ENST00000539609.3_Missense_Mutation_p.G51S|ZEB2_ENST00000409487.3_Missense_Mutation_p.G51S|ZEB2_ENST00000303660.4_Missense_Mutation_p.G51S NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 51 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TTGGCAATACCGTCATCCTCA 0.502000 12 79 0 0 0.013537 0 0 ECE1 1889 broad.mit.edu 37 1 21585219 21585219 + Silent SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:21585219G>C ENST00000415912.2 - 6 806 c.681C>G c.(679-681)gcC>gcG p.A227A ECE1_ENST00000357071.4_Silent_p.A231A|ECE1_ENST00000264205.6_Silent_p.A240A|ECE1_ENST00000436918.2_Silent_p.A243A|ECE1_ENST00000374893.6_Silent_p.A243A NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 243 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TCTTGGAATCGGCACTGACAT 0.572000 7 31 0 0 0.047766 0 0 DDX54 79039 broad.mit.edu 37 12 113599728 113599728 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:113599728C>G ENST00000314045.7 - 18 2297 c.2270G>C c.(2269-2271)cGc>cCc p.R757P DDX54_ENST00000306014.5_Missense_Mutation_p.R757P NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 757 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCTGATGTAGCGGCCGCTCTC 0.582000 48 92 0 0 0.048971 0 0 KLC2 64837 broad.mit.edu 37 11 66031616 66031616 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:66031616C>T ENST00000394065.2 + 6 1643 c.625C>T c.(625-627)Cgg>Tgg p.R209W KLC2_ENST00000394066.2_Missense_Mutation_p.R271W|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.R348W|KLC2_ENST00000417856.1_Missense_Mutation_p.R348W|KLC2_ENST00000421552.1_Missense_Mutation_p.R271W|KLC2_ENST00000316924.5_Missense_Mutation_p.R348W Q9H0B6 KLC2_HUMAN kinesin light chain 2 348 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 ATATTACTATCGGCGGGCACT 0.587000 3 1 0 0 0.009096 0 0 SCLT1 132320 broad.mit.edu 37 4 130014244 130014244 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:130014244G>C ENST00000281142.5 - 1 518 c.15C>G c.(13-15)atC>atG p.I5M SCLT1_ENST00000503215.1_De_novo_Start_InFrame|SCLT1_ENST00000511426.1_Missense_Mutation_p.I5M|SCLT1_ENST00000506368.1_Missense_Mutation_p.I5M|SCLT1_ENST00000503401.1_Intron|SCLT1_ENST00000439369.2_Missense_Mutation_p.I5M|SCLT1_ENST00000434680.1_Missense_Mutation_p.I5M NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 5 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TCAGAAAGTCGATTTCTGCAG 0.383000 29 15 0 0 0.050027 0 0 KEAP1 9817 broad.mit.edu 37 19 10600447 10600447 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:10600447G>A ENST00000171111.5 - 4 1955 c.1408C>T c.(1408-1410)Cgt>Tgt p.R470C KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.R470C(3)|p.R470S(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) TAAAGGAGACGATTGAGGACA 0.557000 16 13 0 0 0.033300 0 0 PWP2 5822 broad.mit.edu 37 21 45535281 45535281 + Splice_Site SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr21:45535281G>A ENST00000291576.7 + 6 733 c.e6+1 NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CAGCCTGGACGTATGTCCCTT 0.602000 28 84 0 0 0.030593 0 0 HAUS6 54801 broad.mit.edu 37 9 19063104 19063104 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:19063104C>T ENST00000380502.3 - 14 1998 c.1531G>A c.(1531-1533)Gat>Aat p.D511N HAUS6_ENST00000380496.1_Missense_Mutation_p.D375N NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 511 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTTGCAACATCTGATAATGGA 0.368000 60 114 0 0 0.048971 0 0 DPF3 8110 broad.mit.edu 37 14 73198527 73198527 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr14:73198527G>C ENST00000541685.1 - 4 429 c.417C>G c.(415-417)atC>atG p.I139M DPF3_ENST00000556509.1_Missense_Mutation_p.I139M|DPF3_ENST00000546183.1_Missense_Mutation_p.I149M NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 139 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GTATTTCCTGGATGCTTTCCT 0.577000 5 16 0 0 0.021553 0 0 MYO19 80179 broad.mit.edu 37 17 34863298 34863298 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:34863298G>C ENST00000431794.3 - 16 1929 c.1407C>G c.(1405-1407)aaC>aaG p.N469K MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 469 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AACAGGGCTGGTTGTCCTGGT 0.542000 39 32 0 0 0.039052 0 0 AKR1C4 1109 broad.mit.edu 37 10 5247720 5247720 + Splice_Site SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr10:5247720C>A ENST00000380448.1 + 6 623 c.369_splice c.e6-1 p.P124_splice AKR1C4_ENST00000263126.1_Splice_Site_p.P124_splice P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 124 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) TCTACTTCAGCCAGGTGAGAC 0.448000 20 4 1.00905e-13 1.13943e-13 0.049695 1 0 DNAH1 25981 broad.mit.edu 37 3 52383302 52383302 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:52383302C>G ENST00000420323.2 + 14 2653 c.2392C>G c.(2392-2394)Ccc>Gcc p.P798A NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 798 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGCTCGCTGCCCAGCAGCAT 0.592000 20 8 0 0 0.049695 0 0 CYP3A5 1577 broad.mit.edu 37 7 99258197 99258197 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:99258197A>G ENST00000343703.5 - 11 1307 c.921T>C c.(919-921)acT>acC p.T307T CYP3A5_ENST00000222982.4_Silent_p.T317T|CYP3A5_ENST00000339843.2_3'UTR cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) GTTCATATAAAGTGAAGGAAA 0.473000 17 105 0 0 0.033300 0 0 HAUS6 54801 broad.mit.edu 37 9 19063008 19063008 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:19063008C>G ENST00000380502.3 - 14 2094 c.1627G>C c.(1627-1629)Gag>Cag p.E543Q HAUS6_ENST00000380496.1_Missense_Mutation_p.E407Q NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 543 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle p.E543K(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTTCTCACCTCTTCTACCAGA 0.413000 43 138 0 0 0.036044 0 0 ZNF451 26036 broad.mit.edu 37 6 56997884 56997884 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:56997884C>T ENST00000370706.4 + 6 713 c.469C>T c.(469-471)Cga>Tga p.R157* ZNF451_ENST00000357489.3_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000588811.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAGTTCATTCCGAAGAGGAGG 0.393000 15 44 0 0 0.024245 0 0 GPR141 353345 broad.mit.edu 37 7 37780320 37780320 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:37780320A>G ENST00000447769.1 + 4 614 c.325A>G c.(325-327)Atc>Gtc p.I109V EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.I109V Q7Z602 GP141_HUMAN G protein-coupled receptor 141 109 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTATGTGGTGATCCTGGTCAC 0.483000 17 58 0 0 0.033300 0 0 ERBB2 2064 broad.mit.edu 37 17 37865676 37865676 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:37865676C>T ENST00000406381.2 + 6 965 c.455C>T c.(454-456)aCa>aTa p.T152I ERBB2_ENST00000540042.1_Missense_Mutation_p.T152I|ERBB2_ENST00000584601.1_Missense_Mutation_p.T152I|ERBB2_ENST00000269571.5_Missense_Mutation_p.T182I|ERBB2_ENST00000584450.1_Missense_Mutation_p.T182I|ERBB2_ENST00000540147.1_Missense_Mutation_p.T152I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.T167I|ERBB2_ENST00000578199.1_Missense_Mutation_p.T152I NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 182 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTGGCTCTCACACTGATAGAC 0.562000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 14 36 0 0 0.020292 0 0 IL6 3569 broad.mit.edu 37 7 22766989 22766989 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:22766989G>A ENST00000420258.2 + 1 171 c.108G>A c.(106-108)gcG>gcA p.A36A IL6_ENST00000404625.1_Intron|IL6_ENST00000401630.3_Intron|IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Intron|IL6_ENST00000406575.1_Intron|IL6_ENST00000407492.1_Intron P05231 IL6_HUMAN interleukin 6 (interferon, beta 2) 0 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) GAGGGCTGGCGGGCGGCCAGC 0.677000 OREG0017891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 0 0 0.016723 0 0 KLK4 9622 broad.mit.edu 37 19 51411651 51411651 + Nonsense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:51411651G>T ENST00000324041.1 - 4 575 c.576C>A c.(574-576)tgC>tgA p.C192* KLK4_ENST00000431178.2_Intron NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 192 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CTCCGCCGGCGCAGAACATGC 0.622000 56 52 6.3091e-27 7.45959e-27 0.048971 1 0 PLCH1 23007 broad.mit.edu 37 3 155199373 155199373 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:155199373G>T ENST00000460012.1 - 23 4709 c.4352C>A c.(4351-4353)cCt>cAt p.P1451H PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1451H|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1489H|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1451H|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1489 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGATTTGCAAGGACTAGGCAG 0.468000 13 59 6.31663e-08 6.86293e-08 0.024245 1 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993685 96993685 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:96993685C>T ENST00000361124.4 + 1 1751 c.1340C>T c.(1339-1341)gCa>gTa p.A447V ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A431V|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A431V|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.A439V NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 439 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCCCATGGAGCATCCCGCCCC 0.562000 42 67 0 0 0.036044 0 0 NUMBL 9253 broad.mit.edu 37 19 41188693 41188693 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:41188693G>A ENST00000252891.4 - 5 506 c.339C>T c.(337-339)tcC>tcT p.S113S NUMBL_ENST00000598779.1_Silent_p.S72S|NUMBL_ENST00000540131.1_Silent_p.S72S NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 113 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding p.S113S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CAGACTTCACGGACTTTCGGC 0.652000 17 133 0 0 0.038395 0 0 KIF1A 547 broad.mit.edu 37 2 241706365 241706365 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:241706365C>T ENST00000498729.2 - 19 1897 c.1651G>A c.(1651-1653)Gtc>Atc p.V551I KIF1A_ENST00000320389.7_Missense_Mutation_p.V542I NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 542 FHA. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTCCGGAAGACGCAGTGCTCC 0.637000 4 8 0 0 0.009096 0 0 ASB4 51666 broad.mit.edu 37 7 95157520 95157520 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:95157520G>C ENST00000325885.5 + 3 954 c.883G>C c.(883-885)Gtc>Ctc p.V295L ASB4_ENST00000428113.1_Missense_Mutation_p.V295L NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 295 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CGTGCTGAAGGTCACCTCCGT 0.572000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 51 0 0 0.058154 0 0 COL24A1 255631 broad.mit.edu 37 1 86590952 86590952 + Missense_Mutation SNP A A C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:86590952A>C ENST00000370571.2 - 3 1433 c.1067T>G c.(1066-1068)aTc>aGc p.I356S COL24A1_ENST00000436319.1_Missense_Mutation_p.I356S NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 356 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TGCCTCACTGATGCGATGAGT 0.418000 25 19 0 0 0.021523 0 0 PDCL 5082 broad.mit.edu 37 9 125585430 125585430 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:125585430C>G ENST00000259467.4 - 3 384 c.219G>C c.(217-219)gaG>gaC p.E73D NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 73 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 TCTGCTCTGTCTCCAACTGCT 0.537000 29 124 0 0 0.034045 0 0 CCDC57 284001 broad.mit.edu 37 17 80121141 80121141 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:80121141C>T ENST00000392347.1 - 13 2011 c.1975G>A c.(1975-1977)Gca>Aca p.A659T CCDC57_ENST00000392343.3_Missense_Mutation_p.A659T|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.A659T NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 659 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TTCCTGAGTGCCAGTCCAGAG 0.587000 4 119 0 0 0.009096 0 0 USP22 23326 broad.mit.edu 37 17 20924462 20924462 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:20924462C>T ENST00000261497.4 - 3 585 c.382G>A c.(382-384)Gcc>Acc p.A128T USP22_ENST00000537526.2_Missense_Mutation_p.A116T|USP22_ENST00000455117.2_Intron NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 128 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 TCCTCCTTGGCGATTATTTCC 0.483000 18 28 0 0 0.033300 0 0 ZNF707 286075 broad.mit.edu 37 8 144776666 144776666 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:144776666G>A ENST00000532205.1 + 8 1981 c.1082G>A c.(1081-1083)cGg>cAg p.R361Q ZNF707_ENST00000358656.4_Missense_Mutation_p.R361Q|ZNF707_ENST00000454097.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000532158.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000418203.2_Missense_Mutation_p.R361Q Q96C28 ZN707_HUMAN zinc finger protein 707 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTCTTCACGCGGCATCAGAGG 0.647000 25 16 0 0 0.027356 0 0 ZNF697 90874 broad.mit.edu 37 1 120165879 120165879 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:120165879C>T ENST00000421812.2 - 3 1206 c.1087G>A c.(1087-1089)Gtg>Atg p.V363M NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GAACGGCGCACGAAGCCCTTG 0.746000 2 1 0 0 0.004672 0 0 ZNF100 163227 broad.mit.edu 37 19 21948566 21948566 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:21948566C>T ENST00000358296.6 - 2 224 c.26G>A c.(25-27)tGt>tAt p.C9Y ZNF100_ENST00000596452.1_5'UTR NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 CTTGAGAGGACACATTCCATA 0.468000 17 45 0 0 0.038395 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530203 80530203 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:80530203C>T ENST00000295057.3 - 2 1398 c.742G>A c.(742-744)Gtg>Atg p.V248M CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V248M NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 248 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GAGCTGACCACAATGGCCACC 0.592000 HNSCC(69;0.2) 18 55 0 0 0.038395 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906141 164906141 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:164906141C>A ENST00000475390.1 - 2 2921 c.2478G>T c.(2476-2478)caG>caT p.Q826H SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q826H O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 826 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 TGGTGTTAAGCTGGGAGCTGG 0.547000 HNSCC(40;0.11) 39 73 6.02501e-08 6.58167e-08 0.025465 1 0 KCNJ10 3766 broad.mit.edu 37 1 160011784 160011784 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:160011784C>T ENST00000368089.3 - 2 765 c.539G>A c.(538-540)cGt>cAt p.R180H KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 180 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGCTGAAACGAATGGTCTC 0.562000 67 84 0 0 0.048971 0 0 HAUS6 54801 broad.mit.edu 37 9 19063029 19063029 + Missense_Mutation SNP C C G rs34304297 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:19063029C>G ENST00000380502.3 - 14 2073 c.1606G>C c.(1606-1608)Gag>Cag p.E536Q HAUS6_ENST00000380496.1_Missense_Mutation_p.E400Q NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 536 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGATCTTGCTCTTTTTGAAAT 0.388000 57 159 0 0 0.048971 0 0 IMPG2 50939 broad.mit.edu 37 3 101038496 101038496 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:101038496A>T ENST00000193391.7 - 2 453 c.266T>A c.(265-267)gTg>gAg p.V89E NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 89 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GCAGATTTTCACTCCATTAGG 0.433000 67 30 0 0 0.048971 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58357778 58357778 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr15:58357778T>C ENST00000249750.4 - 1 838 c.71A>G c.(70-72)cAc>cGc p.H24R ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.H24R|CTD-2330J20.2_ENST00000559684.1_RNA NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 24 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity p.H24L(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CGGCAGGAGGTGCAGCGACGC 0.652000 9 35 0 0 0.047766 0 0 ZHX3 23051 broad.mit.edu 37 20 39832157 39832157 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr20:39832157G>A ENST00000309060.3 - 4 1815 c.1400C>T c.(1399-1401)aCg>aTg p.T467M ZHX3_ENST00000559234.1_Missense_Mutation_p.T467M|ZHX3_ENST00000544979.2_Missense_Mutation_p.T467M|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.T467M|ZHX3_ENST00000560361.1_Missense_Mutation_p.T467M|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.T467M Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 467 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CACAGCTGACGTTGTATTTGA 0.542000 6 20 0 0 0.021553 0 0 FAT1 2195 broad.mit.edu 37 4 187524463 187524463 + Silent SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:187524463C>A ENST00000441802.2 - 19 11426 c.11217G>T c.(11215-11217)gcG>gcT p.A3739A NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3739 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGTCCAGTCCCGCGCAGAGTT 0.463000 HNSCC(5;0.00058) 17 8 0.00152264 0.00155356 0.055883 1 0 MMP12 4321 broad.mit.edu 37 11 102734976 102734976 + RNA SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:102734976C>T ENST00000532855.1 - 0 1308 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGTCTCCTTTCATCATACCTG 0.448000 5 21 0 0 0.021553 0 0 PTPRR 5801 broad.mit.edu 37 12 71078046 71078046 + Splice_Site SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:71078046T>A ENST00000283228.2 - 10 1812 c.e10-2 PTPRR_ENST00000342084.4_Splice_Site|PTPRR_ENST00000440835.2_Splice_Site|PTPRR_ENST00000378778.1_Splice_Site|PTPRR_ENST00000549308.1_Splice_Site NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ACTGTAGCCCTAGATGGAGTA 0.453000 14 27 0 0 0.024245 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135911438 135911438 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:135911438G>A ENST00000264158.8 + 19 2324 c.2281G>A c.(2281-2283)Gca>Aca p.A761T RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A761T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A717T NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 761 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TACACGGGAAGCAGAAAAGGT 0.418000 5 36 0 0 0.029380 0 0 FREM2 341640 broad.mit.edu 37 13 39266021 39266021 + Nonsense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr13:39266021G>T ENST00000280481.7 + 1 4756 c.4540G>T c.(4540-4542)Gga>Tga p.G1514* NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1514 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGTCACCGATGGACGTAACCC 0.448000 17 57 3.45872e-05 3.60208e-05 0.028581 1 0 PAX5 5079 broad.mit.edu 37 9 37020768 37020768 + Missense_Mutation SNP A A C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:37020768A>C ENST00000358127.4 - 2 151 c.77T>G c.(76-78)gTt>gGt p.V26G PAX5_ENST00000522003.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.V26G|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.V26G|PAX5_ENST00000377852.2_Missense_Mutation_p.V26G|PAX5_ENST00000520154.1_Missense_Mutation_p.V26G|PAX5_ENST00000377847.2_Missense_Mutation_p.V26G|PAX5_ENST00000520281.1_Missense_Mutation_p.V26G|PAX5_ENST00000523241.1_Missense_Mutation_p.V26G|PAX5_ENST00000414447.1_Missense_Mutation_p.V26G NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 26 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(41)|p.V26G(3)|p.V26fs*49(1) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) ATTCACAAAAACCCCCCCAAG 0.527000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 9 73 0 0 0.020292 0 0 MGAM 8972 broad.mit.edu 37 7 141734603 141734603 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:141734603C>A ENST00000475668.2 + 16 1975 c.1921C>A c.(1921-1923)Cct>Act p.P641T MGAM_ENST00000549489.2_Missense_Mutation_p.P641T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 641 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGGTCCATCCCTGGCGTGCT 0.507000 23 24 3.28513e-13 3.68889e-13 0.021523 1 0 TRPM3 80036 broad.mit.edu 37 9 73164503 73164503 + Missense_Mutation SNP C C A rs139956868 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:73164503C>A ENST00000377110.2 - 24 3869 c.3626G>T c.(3625-3627)cGg>cTg p.R1209L TRPM3_ENST00000377105.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1209L|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1236L|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1071L|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1068L|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1081L|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1058L|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1081L|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1213L|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1071L NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1234 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGAGTTGAACCGATCATCCTT 0.423000 30 27 2.61193e-14 2.98295e-14 0.041601 1 0 ZNF572 137209 broad.mit.edu 37 8 125990080 125990080 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:125990080G>A ENST00000319286.5 + 3 1724 c.1570G>A c.(1570-1572)Gtc>Atc p.V524I NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTCATTTTCCGTCTCAAATTC 0.428000 HNSCC(60;0.17) 39 49 0 0 0.080422 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560591 67560591 + RNA SNP G G A rs11227961 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:67560591G>A ENST00000528089.1 - 0 1159 AGTTTTATCCGCTTTCCCATA 0.413000 3 23 0 0 0.014758 0 0 COL4A5 1287 broad.mit.edu 37 X 107865911 107865911 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:107865911G>A ENST00000328300.6 + 33 3017 c.2773G>A c.(2773-2775)Gat>Aat p.D925N COL4A5_ENST00000361603.2_Missense_Mutation_p.D925N NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 925 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTTAGGTGATGATGGCTTGCA 0.413000 Alport syndrome with Diffuse Leiomyomatosis 19 40 0 0 0.021523 0 0 MPP6 51678 broad.mit.edu 37 7 24705286 24705286 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:24705286G>A ENST00000396475.2 + 8 1162 c.863G>A c.(862-864)aGa>aAa p.R288K MPP6_ENST00000409761.1_Missense_Mutation_p.R176K|MPP6_ENST00000222644.4_Missense_Mutation_p.R288K NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 288 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GCATTTGTTAGAAGAGACTGG 0.413000 23 17 0 0 0.069288 0 0 DHX33 56919 broad.mit.edu 37 17 5365857 5365857 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:5365857T>C ENST00000225296.3 - 3 660 c.460A>G c.(460-462)Aca>Gca p.T154A DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 154 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AAGCGCACTGTATAGCCAACC 0.478000 18 60 0 0 0.038395 0 0 AP3D1 8943 broad.mit.edu 37 19 2121212 2121212 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:2121212G>A ENST00000355272.6 - 13 1406 c.1200C>T c.(1198-1200)atC>atT p.I400I AP3D1_ENST00000356926.4_Silent_p.I309I|AP3D1_ENST00000345016.5_Silent_p.I400I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I231I NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 400 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGATGTCAATGATCTTGGTGA 0.582000 26 26 0 0 0.034045 0 0 PIK3CG 5294 broad.mit.edu 37 7 106523581 106523581 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:106523581C>T ENST00000359195.3 + 8 3043 c.2733C>T c.(2731-2733)ctC>ctT p.L911L PIK3CG_ENST00000496166.1_Silent_p.L911L|PIK3CG_ENST00000440650.2_Silent_p.L911L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 911 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ATCACTGGCTCAAAGAAAAAT 0.428000 5 153 0 0 0.014758 0 0 C21orf58 54058 broad.mit.edu 37 21 47737166 47737166 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr21:47737166C>A ENST00000291691.7 - 3 1462 c.326G>T c.(325-327)cGg>cTg p.R109L C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR|C21orf58_ENST00000397685.4_Missense_Mutation_p.R26L|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 109 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) CACGTTCTGCCGTTCTTGCTC 0.597000 10 9 0.000673444 0.000697744 0.069234 1 0 CSPP1 79848 broad.mit.edu 37 8 68076024 68076024 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:68076024C>T ENST00000262210.5 + 21 2717 c.2686C>T c.(2686-2688)Cgt>Tgt p.R896C CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R551C NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 931 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAATCAGCTCCGTGCAGAAGG 0.383000 11 27 0 0 0.010729 0 0 UBAP2 55833 broad.mit.edu 37 9 33943473 33943473 + Missense_Mutation SNP G G T rs147087482 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:33943473G>T ENST00000379238.1 - 15 1777 c.1660C>A c.(1660-1662)Cca>Aca p.P554T UBAP2_ENST00000379225.1_Missense_Mutation_p.P187T|UBAP2_ENST00000539807.1_Missense_Mutation_p.P309T|UBAP2_ENST00000379239.4_Missense_Mutation_p.P287T|UBAP2_ENST00000360802.1_Missense_Mutation_p.P554T|UBAP2_ENST00000449054.1_Missense_Mutation_p.P554T|UBAP2_ENST00000418786.2_Missense_Mutation_p.P501T Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 554 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TCACTGCTTGGAGCTGATCCA 0.408000 17 67 3.70931e-20 4.30967e-20 0.038395 1 0 VPS37C 55048 broad.mit.edu 37 11 60901634 60901634 + Missense_Mutation SNP G G A rs144006897 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:60901634G>A ENST00000301765.5 - 3 371 c.139C>T c.(139-141)Cgg>Tgg p.R47W NM_017966.4 NP_060436.4 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37 homolog C (S. cerevisiae) 47 cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GCCAGGCTCCGGTTGGTGGCC 0.582000 22 62 0 0 0.062417 0 0 ZNF320 162967 broad.mit.edu 37 19 53384345 53384345 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:53384345T>A ENST00000595635.1 - 8 1535 c.1034A>T c.(1033-1035)gAa>gTa p.E345V ZNF320_ENST00000391781.2_Missense_Mutation_p.E345V|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) CCTATGTCTTTCAAGATGTGA 0.428000 66 25 0 0 0.048971 0 0 PTPRB 5787 broad.mit.edu 37 12 70925945 70925945 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:70925945C>A ENST00000334414.6 - 32 6418 c.6374G>T c.(6373-6375)gGt>gTt p.G2125V RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1817V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1907V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G2037V|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1817V NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1907 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CCTACCCACACCAGCACTAGA 0.433000 11 28 5.50884e-06 5.82777e-06 0.013537 1 0 CCNB3 85417 broad.mit.edu 37 X 50051787 50051787 + Missense_Mutation SNP T T A rs147712690 byFrequency TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:50051787T>A ENST00000376042.1 + 6 916 c.618T>A c.(616-618)ttT>ttA p.F206L CCNB3_ENST00000276014.7_Missense_Mutation_p.F206L|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 206 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) ATGATGCGTTTGTTATAGAGC 0.413000 36 4 0 0 0.064281 0 0 GAPVD1 26130 broad.mit.edu 37 9 128092450 128092450 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:128092450A>G ENST00000470056.1 + 11 2286 c.2126A>G c.(2125-2127)gAg>gGg p.E709G GAPVD1_ENST00000495955.1_Missense_Mutation_p.E709G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E709G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E688G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E709G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E709G|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E688G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E709G Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 709 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ACCATATCAGAGACAACAAGT 0.433000 32 98 0 0 0.054565 0 0 GIGYF1 64599 broad.mit.edu 37 7 100285665 100285665 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:100285665T>G ENST00000275732.5 - 2 1313 c.104A>C c.(103-105)aAg>aCg p.K35T GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 35 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GTCAGCCAGCTTGTATTTGGG 0.642000 26 95 0 0 0.021523 0 0 FAM181B 220382 broad.mit.edu 37 11 82444616 82444616 + Silent SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:82444616C>A ENST00000329203.3 - 1 290 c.156G>T c.(154-156)tcG>tcT p.S52S NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 52 large_intestine(1)|lung(2)|prostate(1) 4 CTTCGGCTCCCGACAGCAGCG 0.692000 8 11 7.48243e-07 7.99983e-07 0.058154 1 0 PFAS 5198 broad.mit.edu 37 17 8170695 8170695 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:8170695C>T ENST00000314666.6 + 25 3314 c.3181C>T c.(3181-3183)Ccc>Tcc p.P1061S PFAS_ENST00000545834.1_Missense_Mutation_p.P637S NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1061 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAAGGTGGTCCCAGCCCCCG 0.607000 70 110 0 0 0.048971 0 0 TRIML2 205860 broad.mit.edu 37 4 189022227 189022227 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:189022227A>G ENST00000512729.1 - 3 687 c.313T>C c.(313-315)Ttc>Ctc p.F105L TRIML2_ENST00000536972.1_Missense_Mutation_p.F155L|TRIML2_ENST00000326754.3_Missense_Mutation_p.F105L NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 105 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ATTTCCTGGAACATCTCCTCT 0.398000 11 15 0 0 0.010729 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906887 164906887 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:164906887C>T ENST00000475390.1 - 2 2175 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K SLITRK3_ENST00000241274.3_Missense_Mutation_p.E578K O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 578 LRRCT 2. integral to membrane p.E578K(1) 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 CTGATGGTTTCGATCCACTGT 0.517000 HNSCC(40;0.11) 6 69 0 0 0.038147 0 0 SUN5 140732 broad.mit.edu 37 20 31583478 31583478 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr20:31583478T>A ENST00000356173.3 - 8 573 c.481A>T c.(481-483)Agc>Tgc p.S161C SUN5_ENST00000375523.3_Missense_Mutation_p.S136C NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 161 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 TGGTTCATGCTACCTCGGAGG 0.493000 44 246 0 0 0.048971 0 0 MAST4 375449 broad.mit.edu 37 5 66426148 66426148 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:66426148G>A ENST00000404260.3 + 15 2173 c.1865G>A c.(1864-1866)cGg>cAg p.R622Q MAST4_ENST00000405643.1_Missense_Mutation_p.R440Q|MAST4_ENST00000403625.2_Missense_Mutation_p.R619Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R430Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R425Q O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 622 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TTTGTGGAGCGGGATATCCTG 0.458000 20 19 0 0 0.062417 0 0 ZNF18 7566 broad.mit.edu 37 17 11895778 11895778 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:11895778G>A ENST00000322748.3 - 4 973 c.369C>T c.(367-369)ccC>ccT p.P123P ZNF18_ENST00000454073.3_Silent_p.P123P|ZNF18_ENST00000580613.1_Silent_p.P72P|ZNF18_ENST00000580306.1_Silent_p.P123P NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 123 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) ACAGTCTCTGGGGGTCCCCCT 0.532000 25 33 0 0 0.076483 0 0 TMEM150B 284417 broad.mit.edu 37 19 55831420 55831420 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:55831420A>T ENST00000326652.4 - 6 493 c.311T>A c.(310-312)gTa>gAa p.V104E TMEM150B_ENST00000438693.1_Missense_Mutation_p.V104E A6NC51 T150B_HUMAN transmembrane protein 150B 104 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 GAAATTGCCTACCACGGAGGT 0.617000 63 12 0 0 0.048971 0 0 PIN1 5300 broad.mit.edu 37 19 9959816 9959816 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:9959816G>A ENST00000247970.4 + 4 455 c.433G>A c.(433-435)Gag>Aag p.E145K PIN1_ENST00000588695.1_Missense_Mutation_p.E145K|PIN1_ENST00000380889.6_3'UTR NM_006221.3 NP_006212.1 Q13526 PIN1_HUMAN peptidylprolyl cis/trans isomerase, NIMA-interacting 1 145 PpiC. cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation nucleoplasm GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding skin(3) 3 GCGGACGGGGGAGATGAGCGG 0.687000 11 22 0 0 0.010729 0 0 BSN 8927 broad.mit.edu 37 3 49689861 49689861 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:49689861C>T ENST00000296452.4 + 5 2986 c.2872C>T c.(2872-2874)Cgg>Tgg p.R958W NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 958 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CAGTCTGGACCGGGAGCCTGA 0.622000 43 14 0 0 0.039052 0 0 TMEM130 222865 broad.mit.edu 37 7 98446238 98446238 + Silent SNP G G T rs142570247 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:98446238G>T ENST00000450876.1 - 7 2150 c.835C>A c.(835-837)Cgg>Agg p.R279R TMEM130_ENST00000546258.1_Silent_p.R344R|TMEM130_ENST00000339375.4_Silent_p.R363R|TMEM130_ENST00000416379.2_Silent_p.R363R|TMEM130_ENST00000345589.4_Silent_p.R261R Q8N3G9 TM130_HUMAN transmembrane protein 130 363 Golgi membrane|integral to membrane p.R363W(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTGGCATTCCGCAGGGTCATG 0.517000 55 29 8.89271e-47 1.06395e-46 0.048971 1 0 SUMF1 285362 broad.mit.edu 37 3 4494724 4494724 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:4494724T>C ENST00000272902.5 - 2 315 c.280A>G c.(280-282)Atc>Gtc p.I94V SUMF1_ENST00000405420.2_Missense_Mutation_p.I94V|SUMF1_ENST00000534863.1_Missense_Mutation_p.I94V|SUMF1_ENST00000383843.5_Missense_Mutation_p.I94V|SUMF1_ENST00000458465.2_Missense_Mutation_p.I94V NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 94 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) CCAGCAGGGATGGGGACCATC 0.488000 5 11 0 0 0.014758 0 0 CDH9 1007 broad.mit.edu 37 5 26885873 26885873 + Nonsense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:26885873G>A ENST00000231021.4 - 11 1904 c.1732C>T c.(1732-1734)Caa>Taa p.Q578* NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 578 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GTGCTGCTTTGAATTGGATAA 0.458000 5 24 0 0 0.014758 0 0 NXF5 55998 broad.mit.edu 37 X 101092763 101092763 + Nonsense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:101092763T>A ENST00000537026.1 - 14 1269 c.910A>T c.(910-912)Aaa>Taa p.K304* NXF5_ENST00000473265.2_Nonsense_Mutation_p.K304*|NXF5_ENST00000361708.2_Nonsense_Mutation_p.K304* NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 304 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 CAGGGGTCTTTGAGAATTTTT 0.507000 94 23 0 0 0.048971 0 0 TMUB2 79089 broad.mit.edu 37 17 42266692 42266692 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:42266692C>T ENST00000319511.6 + 2 928 c.278C>T c.(277-279)gCg>gTg p.A93V TMUB2_ENST00000587989.1_Missense_Mutation_p.A113V|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.A93V|TMUB2_ENST00000589785.1_Missense_Mutation_p.A93V|TMUB2_ENST00000589856.1_Missense_Mutation_p.A93V|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.A113V NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 113 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GCTGAAGAGGCGGGTGAAGGT 0.612000 3 54 0 0 0.004672 0 0 PF4V1 5197 broad.mit.edu 37 4 74719102 74719102 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:74719102G>A ENST00000226524.3 + 1 197 c.23G>A c.(22-24)cGc>cAc p.R8H NM_002620.2 NP_002611.1 P10720 PF4V_HUMAN platelet factor 4 variant 1 8 immune response extracellular region chemokine activity|heparin binding endometrium(1)|liver(2) 3 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GCCAGGTCCCGCCTCACCCGC 0.652000 3 11 0 0 0.004672 0 0 MAP2K3 5606 broad.mit.edu 37 17 21215472 21215472 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:21215472C>T ENST00000342679.4 + 10 1042 c.793C>T c.(793-795)Cgg>Tgg p.R265W MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236W NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 265 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GGCCATCCTGCGGTTCCCTTA 0.677000 4 48 0 0 0.014758 0 0 KIAA1033 23325 broad.mit.edu 37 12 105536970 105536970 + Silent SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:105536970T>C ENST00000332180.5 + 20 2046 c.1959T>C c.(1957-1959)taT>taC p.Y653Y NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 653 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TAGAGTCCTATGAGATACTTC 0.333000 3 32 0 0 0.004672 0 0 PIGR 5284 broad.mit.edu 37 1 207105858 207105858 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:207105858G>A ENST00000356495.4 - 8 2134 c.1951C>T c.(1951-1953)Ctg>Ttg p.L651L NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 651 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCACTGCCAGCACCAGGCCC 0.637000 47 65 0 0 0.048971 0 0 F13B 2165 broad.mit.edu 37 1 197032145 197032145 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:197032145G>A ENST00000367412.1 - 2 150 c.107C>T c.(106-108)gCc>gTc p.A36V NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 36 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GTAATATTGGGCAATTCTTCC 0.323000 39 250 0 0 0.042209 0 0 FGD2 221472 broad.mit.edu 37 6 36993640 36993640 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:36993640C>T ENST00000274963.8 + 14 1702 c.1531C>T c.(1531-1533)Ctc>Ttc p.L511F NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 511 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|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CCGAGTCTGCCTCCACTGCTA 0.622000 36 7 0 0 0.059317 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307562 39307562 + Missense_Mutation SNP C C T rs3732380 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:39307562C>T ENST00000541347.1 - 2 678 c.439G>A c.(439-441)Gtc>Atc p.V147I CX3CR1_ENST00000542107.1_Missense_Mutation_p.V147I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V147I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.V179I NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 147 V -> I (in dbSNP:rs3732380). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CTGATGGTGACGCCATGCTGC 0.527000 4 48 0 0 0.009096 0 0 CCHCR1 54535 broad.mit.edu 37 6 31113227 31113227 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:31113227C>G ENST00000396268.3 - 12 1925 c.1737G>C c.(1735-1737)gaG>gaC p.E579D CCHCR1_ENST00000376266.5_Missense_Mutation_p.E490D|CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.E543D NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 490 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 AACTTCACCTCTCCTGGCGCA 0.557000 6 31 0 0 0.069234 0 0 ATP8B4 79895 broad.mit.edu 37 15 50273431 50273431 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr15:50273431T>G ENST00000284509.6 - 11 950 c.809A>C c.(808-810)gAt>gCt p.D270A ATP8B4_ENST00000559829.1_Missense_Mutation_p.D270A|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 270 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CATCAATCTATCAATGCTTGT 0.308000 6 33 0 0 0.021553 0 0 KDELR1 10945 broad.mit.edu 37 19 48887692 48887692 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:48887692C>T ENST00000597017.1 - 3 638 c.213G>A c.(211-213)ccG>ccA p.P71P KDELR1_ENST00000330720.2_Silent_p.P133P P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 133 intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1) 11 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) TGAACAGCTGCGGCAAGATGG 0.582000 10 8 0 0 0.058154 0 0 MFGE8 4240 broad.mit.edu 37 15 89449094 89449094 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr15:89449094G>A ENST00000539437.1 - 6 691 c.555C>T c.(553-555)gtC>gtT p.V185V MFGE8_ENST00000268150.8_Silent_p.V193V|MFGE8_ENST00000268151.7_Silent_p.V193V|MFGE8_ENST00000566497.1_Silent_p.V193V|MFGE8_ENST00000542878.1_Silent_p.V149V|MFGE8_ENST00000559997.1_Intron Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 193 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) CAAACAGGTTGACATGCACCG 0.582000 22 62 0 0 0.024334 0 0 CBLB 868 broad.mit.edu 37 3 105456100 105456100 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:105456100T>C ENST00000264122.4 - 8 1307 c.986A>G c.(985-987)tAt>tGt p.Y329C CBLB_ENST00000405772.1_Missense_Mutation_p.Y329C|CBLB_ENST00000394027.3_Missense_Mutation_p.Y351C|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.Y329C NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 329 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 AGGATAAAGATAACTGAATTT 0.279000 Mis S AML 25 15 0 0 0.030593 0 0 ACBD6 84320 broad.mit.edu 37 1 180399399 180399399 + Splice_Site SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:180399399T>A ENST00000367595.3 - 4 1072 c.e4-2 NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 CTCTGGTATCTGTGGGAAGGA 0.323000 13 88 0 0 0.016723 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580973 140580973 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:140580973C>T ENST00000354757.3 + 1 1626 c.1626C>T c.(1624-1626)agC>agT p.S542S PCDHB11_ENST00000536699.1_Silent_p.S177S NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 542 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCTTTGAGCAGCGAGGCGC 0.692000 31 21 0 0 0.042209 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47423172 47423172 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:47423172C>T ENST00000404338.3 + 1 1240 c.1240C>T c.(1240-1242)Cag>Tag p.Q414* NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 414 FF 2. Q -> A (in Ref. 1; AAF80386 and 6; AAA58618). axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CCCTGCAGAGCAGCTATACGA 0.468000 73 30 0 0 0.048971 0 0 TMEM184A 202915 broad.mit.edu 37 7 1590490 1590490 + Nonsense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:1590490G>T ENST00000297477.5 - 3 664 c.348C>A c.(346-348)taC>taA p.Y116* NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 116 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) AGTAGACGTAGTACTGGTGGT 0.642000 33 20 7.63505e-26 8.97453e-26 0.050027 1 0 RPL12P38 645688 broad.mit.edu 37 17 58511472 58511472 + RNA SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:58511472C>A ENST00000588627.1 - 0 1885 TTTTTGGAGACAGACCCAGGG 0.557000 10 17 2.17888e-05 2.28101e-05 0.058154 1 0 CACNG4 27092 broad.mit.edu 37 17 65026643 65026643 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:65026643C>A ENST00000262138.3 + 4 509 c.507C>A c.(505-507)gaC>gaA p.D169E NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 169 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) ACCCGAGTGACAAGCGGGACG 0.547000 35 72 2.68265e-12 2.99563e-12 0.054565 1 0 MAGI2 9863 broad.mit.edu 37 7 78636417 78636417 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:78636417C>T ENST00000354212.4 - 2 660 c.407G>A c.(406-408)cGc>cAc p.R136H MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 136 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGCACCGTGCGGAGGTAGAG 0.373000 63 41 0 0 0.048971 0 0 CCDC132 55610 broad.mit.edu 37 7 92979233 92979233 + Nonstop_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:92979233T>G ENST00000541136.1 + 24 2342 c.1780T>G c.(1780-1782)Tag>Gag p.*594E CCDC132_ENST00000535481.1_Missense_Mutation_p.V504G|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.V754G|CCDC132_ENST00000305866.5_Missense_Mutation_p.V784G Q96JG6 CC132_HUMAN coiled-coil domain containing 132 0 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TACTGGATTGTAGCTGGTAAA 0.338000 16 88 0 0 0.033300 0 0 HCFC2 29915 broad.mit.edu 37 12 104492210 104492210 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:104492210G>T ENST00000229330.4 + 13 1934 c.1830G>T c.(1828-1830)ttG>ttT p.L610F HCFC2_ENST00000550335.1_3'UTR NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 610 Fibronectin type-III 2. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 ATACAGCTTTGGTGAGCCAGT 0.378000 30 42 3.73988e-18 4.34701e-18 0.030593 1 0 ZFP30 22835 broad.mit.edu 37 19 38127001 38127001 + Silent SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:38127001C>G ENST00000351218.2 - 6 998 c.441G>C c.(439-441)ctG>ctC p.L147L ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Silent_p.L147L|ZFP30_ENST00000514101.2_Silent_p.L147L NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTCTGATACAGAGGAAGAG 0.393000 22 150 0 0 0.062417 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66126548 66126548 + RNA SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:66126548G>A ENST00000590019.1 - 0 298 CTACCACAGGGCTGGGCAGAA 0.488000 6 32 0 0 0.029380 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999984 46999984 + Silent SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr10:46999984G>T ENST00000374314.4 + 1 2059 c.1104G>T c.(1102-1104)ctG>ctT p.L368L GPRIN2_ENST00000374317.1_Silent_p.L368L O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 368 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 AGGTAACTCTGGGGTCCAGCC 0.672000 10 85 7.48243e-07 8.02009e-07 0.058154 1 0 ABCC11 85320 broad.mit.edu 37 16 48250115 48250115 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr16:48250115C>T ENST00000394747.1 - 6 1210 c.861G>A c.(859-861)tcG>tcA p.S287S ABCC11_ENST00000356608.2_Silent_p.S287S|ABCC11_ENST00000394748.1_Silent_p.S287S|ABCC11_ENST00000537808.1_Silent_p.S287S|ABCC11_ENST00000353782.5_Silent_p.S287S NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 287 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGATGACCAGCGATGCGCAGG 0.468000 27 114 0 0 0.030593 0 0 MECOM 2122 broad.mit.edu 37 3 168838896 168838896 + Silent SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:168838896C>A ENST00000464456.1 - 6 1716 c.516G>T c.(514-516)tcG>tcT p.S172S MECOM_ENST00000472280.1_Silent_p.S173S|MECOM_ENST00000468789.1_Silent_p.S172S|MECOM_ENST00000460814.1_Silent_p.S172S|MECOM_ENST00000264674.3_Silent_p.S237S|MECOM_ENST00000433243.2_Silent_p.S173S|MECOM_ENST00000392736.3_Silent_p.S172S|MECOM_ENST00000494292.1_Silent_p.S360S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGAGGCCCGACGAAGTGGCAA 0.552000 19 39 5.03518e-11 5.59812e-11 0.043863 1 0 PKDREJ 10343 broad.mit.edu 37 22 46654890 46654890 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr22:46654890T>C ENST00000253255.5 - 1 4329 c.4330A>G c.(4330-4332)Ata>Gta p.I1444V NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1444 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAAAAAGTTATTAATAATTGC 0.378000 17 55 0 0 0.033300 0 0 TUBA3C 7278 broad.mit.edu 37 13 19755884 19755884 + Splice_Site SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr13:19755884C>T ENST00000400113.3 - 1 108 c.e1+1 NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCTGGCCTTACCATGTTGAGC 0.672000 17 11 0 0 0.033300 0 0 ZNF18 7566 broad.mit.edu 37 17 11895778 11895778 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:11895778G>A ENST00000322748.3 - 4 973 c.369C>T c.(367-369)ccC>ccT p.P123P ZNF18_ENST00000454073.3_Silent_p.P123P|ZNF18_ENST00000580306.1_Silent_p.P123P|ZNF18_ENST00000580613.1_Silent_p.P72P NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 123 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) ACAGTCTCTGGGGGTCCCCCT 0.532000 25 33 0 0 0.076483 0 0 ZNF750 79755 broad.mit.edu 37 17 80790065 80790065 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:80790065T>A ENST00000269394.3 - 2 1099 c.266A>T c.(265-267)aAg>aTg p.K89M TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 89 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGCGACAGACTTGGAAGAGGC 0.557000 22 52 0 0 0.021523 0 0 TSTA3 7264 broad.mit.edu 37 8 144697068 144697068 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr8:144697068C>A ENST00000425753.2 - 4 382 c.279G>T c.(277-279)atG>atT p.M93I TSTA3_ENST00000529064.1_Missense_Mutation_p.M93I NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 93 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) CGTTGTCGTTCATGTGCACGT 0.607000 21 62 5.45024e-15 6.29415e-15 0.018920 1 0 SLC13A1 6561 broad.mit.edu 37 7 122808429 122808429 + Splice_Site SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:122808429T>A ENST00000194130.2 - 6 698 c.660_splice c.e6+1 p.K220_splice SLC13A1_ENST00000539873.1_Splice_Site_p.K156_splice NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 220 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TTTATGTACCTTTTCCAACTC 0.254000 11 9 0 0 0.020292 0 0 NUAK1 9891 broad.mit.edu 37 12 106461007 106461007 + Missense_Mutation SNP C C T rs117517173 byFrequency TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:106461007C>T ENST00000261402.2 - 7 2938 c.1559G>A c.(1558-1560)cGg>cAg p.R520Q NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 520 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GCCCTTCCTCCGGCAGGAGAG 0.607000 4 96 0 0 0.021553 0 0 USH2A 7399 broad.mit.edu 37 1 216348641 216348641 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:216348641T>C ENST00000366943.2 - 21 4966 c.4580A>G c.(4579-4581)tAt>tGt p.Y1527C USH2A_ENST00000366942.3_Missense_Mutation_p.Y1527C|USH2A_ENST00000307340.3_Missense_Mutation_p.Y1527C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1527 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAATTTACAATACCCATTTCC 0.423000 HNSCC(13;0.011) 10 55 0 0 0.069234 0 0 SNX20 124460 broad.mit.edu 37 16 50709754 50709754 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr16:50709754C>A ENST00000300590.3 - 3 381 c.209G>T c.(208-210)cGc>cTc p.R70L SNX20_ENST00000423026.2_Missense_Mutation_p.R70L|SNX20_ENST00000330943.4_Missense_Mutation_p.R70L NM_153337.2 NP_699168.1 Q7Z614 SNX20_HUMAN sorting nexin 20 70 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 GTGCTTCCAGCGGCATTTCTG 0.522000 12 57 0.000978159 0.00101208 0.010729 1 0 FLT1 2321 broad.mit.edu 37 13 28896990 28896990 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr13:28896990C>T ENST00000282397.4 - 21 3141 c.2890G>A c.(2890-2892)Gaa>Aaa p.E964K FLT1_ENST00000540678.1_Missense_Mutation_p.E182K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 964 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCAAAGCTTTCGCTGCTGGTG 0.478000 4 109 0 0 0.009096 0 0 WDR7 23335 broad.mit.edu 37 18 54385258 54385258 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr18:54385258C>T ENST00000254442.3 + 13 1853 c.1642C>T c.(1642-1644)Cga>Tga p.R548* WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.R548* NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 548 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TCTAAGTTTGCGAGAGAAAAA 0.408000 21 35 0 0 0.062417 0 0 FBXO44 93611 broad.mit.edu 37 1 11718615 11718615 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:11718615G>A ENST00000376770.1 + 5 916 c.418G>A c.(418-420)Gac>Aac p.D140N FBXO44_ENST00000376768.1_Missense_Mutation_p.G130E|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000251547.5_Missense_Mutation_p.D140N|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 140 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGTGGTGGACCTCAAGGC 0.662000 24 5 0 0 0.018920 0 0 FREM2 341640 broad.mit.edu 37 13 39266020 39266020 + Silent SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr13:39266020T>C ENST00000280481.7 + 1 4755 c.4539T>C c.(4537-4539)gaT>gaC p.D1513D NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1513 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AAGTCACCGATGGACGTAACC 0.453000 18 57 0 0 0.033300 0 0 OR6K2 81448 broad.mit.edu 37 1 158669969 158669969 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:158669969C>G ENST00000359610.2 - 1 517 c.474G>C c.(472-474)gaG>gaC p.E158D NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TCCAGGCAATCTCAGGAAGGG 0.483000 11 45 0 0 0.010729 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) 14 25 0 0 0.024245 0 0 MTCP1 4515 broad.mit.edu 37 X 154294265 154294265 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chrX:154294265C>T ENST00000369476.3 - 2 600 c.21G>A c.(19-21)ggG>ggA p.G7G MTCP1_ENST00000482244.1_Intron|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Silent_p.G7G NM_001018025.3 NP_001018025.1 P56278 MTCP1_HUMAN mature T-cell proliferation 1 7 cell proliferation large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGGTGGAGCCCCCACATCCT 0.572000 T TRA@ T cell prolymphocytic leukemia 11 16 0 0 0.069234 0 0 RAD50 10111 broad.mit.edu 37 5 131915147 131915147 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr5:131915147A>G ENST00000378823.3 + 4 905 c.87A>G c.(85-87)gaA>gaG p.E29E RAD50_ENST00000265335.6_Silent_p.E168E NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 168 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTTAAGTGAAGGAAAGGCTT 0.348000 Homologous recombination 44 11 0 0 0.042209 0 0 PIN1 5300 broad.mit.edu 37 19 9959816 9959816 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:9959816G>A ENST00000247970.4 + 4 455 c.433G>A c.(433-435)Gag>Aag p.E145K PIN1_ENST00000588695.1_Missense_Mutation_p.E145K|PIN1_ENST00000380889.6_3'UTR NM_006221.3 NP_006212.1 Q13526 PIN1_HUMAN peptidylprolyl cis/trans isomerase, NIMA-interacting 1 145 PpiC. cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation nucleoplasm GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding skin(3) 3 GCGGACGGGGGAGATGAGCGG 0.687000 11 22 0 0 0.010729 0 0 UBXN2B 137886 broad.mit.edu 37 8 59352288 59352288 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr8:59352288G>A ENST00000399598.2 + 6 752 c.630G>A c.(628-630)ttG>ttA p.L210L NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 210 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 AACCTAGATTGAGGTTCAAGG 0.378000 6 65 0 0 0.021553 0 0 FSTL5 56884 broad.mit.edu 37 4 162307172 162307172 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:162307172G>A ENST00000306100.5 - 16 2707 c.2271C>T c.(2269-2271)taC>taT p.Y757Y FSTL5_ENST00000536695.1_Silent_p.Y756Y|FSTL5_ENST00000427802.2_Silent_p.Y747Y|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.Y756Y NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 757 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGAACTACCGTAGATGTTAT 0.418000 4 69 0 0 0.009096 0 0 SH3BGRL2 83699 broad.mit.edu 37 6 80406206 80406206 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr6:80406206A>T ENST00000369838.4 + 3 415 c.236A>T c.(235-237)tAt>tTt p.Y79F NM_031469.2 NP_113657.1 Q9UJC5 SH3L2_HUMAN SH3 domain binding glutamic acid-rich protein like 2 79 nucleus SH3 domain binding large_intestine(2)|lung(3) 5 all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174) BRCA - Breast invasive adenocarcinoma(397;0.0278) TTCTAGGATTATGACAGTTTT 0.308000 42 19 0 0 0.033182 0 0 PROM2 150696 broad.mit.edu 37 2 95947688 95947688 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:95947688G>A ENST00000317620.9 + 13 1700 c.1567G>A c.(1567-1569)Ggg>Agg p.G523R PROM2_ENST00000403131.2_Missense_Mutation_p.G523R|PROM2_ENST00000542147.1_Missense_Mutation_p.G523R|PROM2_ENST00000317668.4_Missense_Mutation_p.G523R NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 523 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 AGACACCCCAGGGAACCTGCC 0.627000 19 39 0 0 0.055883 0 0 GPR152 390212 broad.mit.edu 37 11 67219165 67219165 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr11:67219165G>A ENST00000312457.2 - 1 1035 c.1031C>T c.(1030-1032)cCg>cTg p.P344L NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 344 integral to membrane|plasma membrane G-protein coupled receptor activity p.P344L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CTCTGCCATCGGCTCTGGCAG 0.637000 12 31 0 0 0.010729 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898786 130898786 + Missense_Mutation SNP C C T rs138034003 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:130898786C>T ENST00000261655.4 - 14 2699 c.2536G>A c.(2536-2538)Gaa>Aaa p.E846K NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 846 cell junction|synapse p.E846K(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGGAGCTCTTCGGCACCAGGG 0.567000 29 57 0 0 0.041601 0 0 ZNF276 92822 broad.mit.edu 37 16 89789220 89789220 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr16:89789220G>A ENST00000289816.5 + 2 574 c.262G>A c.(262-264)Ggt>Agt p.G88S ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S|ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 163 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCCCCGGCTGGTCGCCGGAA 0.592000 7 45 0 0 0.010729 0 0 THAP5 168451 broad.mit.edu 37 7 108205290 108205290 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:108205290G>C ENST00000415914.3 - 3 686 c.533C>G c.(532-534)tCt>tGt p.S178C THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.S136C|THAP5_ENST00000438865.1_3'UTR NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 178 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 TTCCAAGGTAGATTCTGGTTT 0.348000 6 24 0 0 0.029380 0 0 SSFA2 6744 broad.mit.edu 37 2 182783567 182783567 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:182783567G>A ENST00000431877.2 + 13 3130 c.2951G>A c.(2950-2952)cGt>cAt p.R984H SSFA2_ENST00000320370.7_Missense_Mutation_p.R984H|SSFA2_ENST00000409136.1_Missense_Mutation_p.R493H|SSFA2_ENST00000409001.1_Missense_Mutation_p.R984H|SSFA2_ENST00000428267.2_Missense_Mutation_p.R831H NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 984 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GCAATGCTGCGTCAGCAAACC 0.383000 19 64 0 0 0.062417 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376561 138376561 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr9:138376561G>A ENST00000356818.2 + 4 754 c.205G>A c.(205-207)Gca>Aca p.A69T PPP1R26_ENST00000605660.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A69T|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000602993.1_Intron NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 69 nucleolus protein binding TGAGCGCGCCGCACAGAGGGG 0.706000 50 48 0 0 0.048971 0 0 PRSS48 345062 broad.mit.edu 37 4 152212572 152212572 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:152212572G>C ENST00000455694.2 + 5 956 c.954G>C c.(952-954)gaG>gaC p.E318D SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.E175D NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 318 proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 GCTGGGAAGAGAATGCATGGA 0.473000 16 6 0 0 0.033300 0 0 OPRD1 4985 broad.mit.edu 37 1 29185555 29185555 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:29185555G>A ENST00000234961.2 + 2 559 c.317G>A c.(316-318)aGt>aAt p.S106N NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 106 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CCTTTCCAGAGTGCCAAGTAC 0.537000 52 20 0 0 0.048971 0 0 CCDC132 55610 broad.mit.edu 37 7 92979234 92979234 + Nonstop_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:92979234A>T ENST00000541136.1 + 24 2343 c.1781A>T c.(1780-1782)tAg>tTg p.*594L CCDC132_ENST00000535481.1_Silent_p.V504V|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Silent_p.V754V|CCDC132_ENST00000305866.5_Silent_p.V784V Q96JG6 CC132_HUMAN coiled-coil domain containing 132 0 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACTGGATTGTAGCTGGTAAAG 0.338000 17 88 0 0 0.038395 0 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:7577574T>C ENST00000420246.2 - 7 839 c.707A>G c.(706-708)tAc>tGc p.Y236C TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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) GTTACACATGTAGTTGTAGTG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 29 0 0 0.050027 0 0 FOXF2 2295 broad.mit.edu 37 6 1395022 1395022 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr6:1395022C>T ENST00000259806.1 + 2 1377 c.1263C>T c.(1261-1263)ccC>ccT p.P421P NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 421 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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 factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CTTTCCATCCCTCAGCTAGCG 0.507000 25 45 0 0 0.021523 0 0 SLC7A11 23657 broad.mit.edu 37 4 139103507 139103507 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:139103507T>C ENST00000280612.5 - 9 1339 c.1060A>G c.(1060-1062)Atc>Gtc p.I354V NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 354 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) ATGGAGAGGATTTCTGGAAGG 0.393000 16 8 0 0 0.033300 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215594 140215594 + Silent SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr5:140215594G>T ENST00000525929.1 + 1 1626 c.1626G>T c.(1624-1626)gtG>gtT p.V542V PCDHA7_ENST00000378125.3_Silent_p.V542V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGGGCGTGCCGCCTCTGG 0.692000 51 67 8.72198e-27 1.04082e-26 0.048971 1 0 ZMAT1 84460 broad.mit.edu 37 X 101139651 101139651 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chrX:101139651A>T ENST00000372782.3 - 7 795 c.748T>A c.(748-750)Ttg>Atg p.L250M ZMAT1_ENST00000540921.1_Missense_Mutation_p.L250M|ZMAT1_ENST00000458570.1_Missense_Mutation_p.L79M|ZMAT1_ENST00000494068.1_5'UTR NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 79 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 CGGGTTTCCAAAGAACTCTCT 0.443000 39 53 0 0 0.027894 0 0 FREM2 341640 broad.mit.edu 37 13 39266021 39266021 + Nonsense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr13:39266021G>T ENST00000280481.7 + 1 4756 c.4540G>T c.(4540-4542)Gga>Tga p.G1514* NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1514 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGTCACCGATGGACGTAACCC 0.448000 17 57 3.45872e-05 3.62053e-05 0.028581 1 0 ACSM4 341392 broad.mit.edu 37 12 7469736 7469736 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:7469736C>T ENST00000399422.4 + 4 672 c.624C>T c.(622-624)ttC>ttT p.F208F NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 208 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.F208F(2) endometrium(6)|kidney(1)|lung(14) 21 TTTGCAGATTCGCCTCTGAAG 0.483000 10 23 0 0 0.010729 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1963138 1963138 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:1963138G>A ENST00000382722.5 - 23 2587 c.2225C>T c.(2224-2226)gCg>gTg p.A742V CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A717V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A603V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A742V NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 742 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GAGGGCCAGCGCTGTCCAGTA 0.617000 4 15 0 0 0.014758 0 0 ATF7IP 55729 broad.mit.edu 37 12 14591118 14591118 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:14591118G>A ENST00000544627.1 + 5 2190 c.1870G>A c.(1870-1872)Gat>Aat p.D624N ATF7IP_ENST00000261168.4_Missense_Mutation_p.D616N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D616N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D615N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D615N Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 616 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TGCTGTATTTGATAAGACTTT 0.383000 10 36 0 0 0.058154 0 0 FAT1 2195 broad.mit.edu 37 4 187524462 187524462 + Nonsense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:187524462C>A ENST00000441802.2 - 19 11427 c.11218G>T c.(11218-11220)Gga>Tga p.G3740* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3740 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAGTCCAGTCCCGCGCAGAGT 0.468000 HNSCC(5;0.00058) 17 8 0.00152264 0.00155744 0.055883 1 0 MST1L 11223 broad.mit.edu 37 1 17084510 17084510 + RNA SNP G G A rs61769731 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:17084510G>A ENST00000455405.2 - 0 379 p.L525L(2)|p.L530L(2) ACCCGCTGTAGGCCTGGCTCT 0.577000 3 45 0 0 0.004672 0 0 MRPL23 6150 broad.mit.edu 37 11 1973401 1973401 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr11:1973401A>G ENST00000381514.3 + 3 207 c.185A>G c.(184-186)aAc>aGc p.N62S MRPL23_ENST00000397294.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397297.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397298.3_Missense_Mutation_p.N62S|MRPL23_ENST00000381519.1_Missense_Mutation_p.N62S Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 62 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGCATCTATAACGTGCCCGTG 0.552000 25 20 0 0 0.027356 0 0 GLCCI1 113263 broad.mit.edu 37 7 8126118 8126118 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:8126118G>A ENST00000223145.5 + 8 2151 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 532 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GCTCCTGCAGGAACTGCAGGG 0.547000 49 152 0 0 0.048971 0 0 GABRB1 2560 broad.mit.edu 37 4 47428009 47428009 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:47428009G>T ENST00000295454.3 + 9 1691 c.1399G>T c.(1399-1401)Gtc>Ttc p.V467F GABRB1_ENST00000538619.1_Missense_Mutation_p.V397F NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 467 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTTTAATGTCGTCTATTGGCT 0.418000 46 27 8.04919e-23 9.47898e-23 0.048971 1 0 FAM208A 23272 broad.mit.edu 37 3 56667140 56667140 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:56667140C>T ENST00000431842.2 - 11 3292 c.2368G>A c.(2368-2370)Gtc>Atc p.V790I FAM208A_ENST00000355628.5_Missense_Mutation_p.V1166I|FAM208A_ENST00000493960.2_Missense_Mutation_p.V1227I NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 1227 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 TTTTTCTGGACGTCTTTCATG 0.328000 30 18 0 0 0.030593 0 0 MCHR2 84539 broad.mit.edu 37 6 100382303 100382303 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr6:100382303C>A ENST00000281806.2 - 5 992 c.678G>T c.(676-678)gaG>gaT p.E226D MCHR2_ENST00000369212.1_Missense_Mutation_p.E226D|MCHR2_ENST00000445970.1_Missense_Mutation_p.E226D NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 226 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GTTGATACATCTCCCAAGTAT 0.308000 14 54 1.5842e-08 1.7397e-08 0.016723 1 0 PLEKHG5 57449 broad.mit.edu 37 1 6531696 6531696 + Splice_Site SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:6531696A>T ENST00000377748.1 - 13 1861 c.1362_splice c.e13-1 p.V455_splice PLEKHG5_ENST00000535355.1_Splice_Site_p.V447_splice|PLEKHG5_ENST00000377725.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.V457_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377737.2_Splice_Site_p.V378_splice|PLEKHG5_ENST00000400913.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377728.3_Splice_Site_p.V378_splice|PLEKHG5_ENST00000544978.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000400915.3_Splice_Site_p.V434_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.V415_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.V455_splice NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 434 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CTCCGCCTCCACCTGGGCGCG 0.736000 5 0 0 0 0.014758 0 0 LAMA2 3908 broad.mit.edu 37 6 129637295 129637295 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr6:129637295G>A ENST00000421865.2 + 27 4086 c.4037G>A c.(4036-4038)gGa>gAa p.G1346E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1346 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCTACTTATGGAAATTTCATG 0.343000 14 15 0 0 0.024245 0 0 NUMB 8650 broad.mit.edu 37 14 73749071 73749071 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr14:73749071G>T ENST00000556772.1 - 5 2947 c.660C>A c.(658-660)ttC>ttA p.F220L NUMB_ENST00000555738.2_Missense_Mutation_p.F255L|NUMB_ENST00000359560.3_Missense_Mutation_p.F353L|NUMB_ENST00000555394.1_Missense_Mutation_p.F364L|NUMB_ENST00000555238.1_Missense_Mutation_p.F364L|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.F353L|NUMB_ENST00000356296.4_Missense_Mutation_p.F364L|NUMB_ENST00000355058.3_Missense_Mutation_p.F364L|NUMB_ENST00000454166.4_Missense_Mutation_p.F266L|NUMB_ENST00000560335.1_Missense_Mutation_p.F266L|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.F353L|NUMB_ENST00000554546.1_Missense_Mutation_p.F353L P49757 NUMB_HUMAN numb homolog (Drosophila) 364 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) accaaccttggaaggtaggag 0.512000 7 30 5.18039e-06 5.51958e-06 0.038147 1 0 KDELR1 10945 broad.mit.edu 37 19 48887692 48887692 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:48887692C>T ENST00000597017.1 - 3 638 c.213G>A c.(211-213)ccG>ccA p.P71P KDELR1_ENST00000330720.2_Silent_p.P133P P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 133 intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1) 11 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) TGAACAGCTGCGGCAAGATGG 0.582000 10 8 0 0 0.058154 0 0 GDAP1 54332 broad.mit.edu 37 8 75276509 75276509 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr8:75276509G>A ENST00000220822.7 + 6 1064 c.984G>A c.(982-984)ttG>ttA p.L328L GDAP1_ENST00000434412.2_Silent_p.L260L|GDAP1_ENST00000521096.1_3'UTR NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 328 cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TGGTTGGTTTGCTTGCAGGAG 0.433000 21 46 0 0 0.049695 0 0 ZNF511 118472 broad.mit.edu 37 10 135123687 135123687 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr10:135123687G>A ENST00000359035.3 + 4 452 c.449G>A c.(448-450)gGc>gAc p.G150D ZNF511_ENST00000361518.5_Missense_Mutation_p.G150D|ZNF511_ENST00000368554.4_Missense_Mutation_p.G85D|ZNF511_ENST00000463816.2_3'UTR Q8NB15 ZN511_HUMAN zinc finger protein 511 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) TTGGTAGAAGGCTGCACAGAG 0.582000 52 72 0 0 0.048971 0 0 ZEB2 9839 broad.mit.edu 37 2 145187516 145187516 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:145187516C>T ENST00000558170.2 - 3 1335 c.151G>A c.(151-153)Ggt>Agt p.G51S ZEB2_ENST00000303660.4_Missense_Mutation_p.G51S|ZEB2_ENST00000539609.3_Missense_Mutation_p.G51S|ZEB2_ENST00000409487.3_Missense_Mutation_p.G51S NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 51 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TTGGCAATACCGTCATCCTCA 0.502000 12 79 0 0 0.013537 0 0 ECE1 1889 broad.mit.edu 37 1 21585219 21585219 + Silent SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:21585219G>C ENST00000415912.2 - 6 806 c.681C>G c.(679-681)gcC>gcG p.A227A ECE1_ENST00000436918.2_Silent_p.A243A|ECE1_ENST00000374893.6_Silent_p.A243A|ECE1_ENST00000357071.4_Silent_p.A231A|ECE1_ENST00000264205.6_Silent_p.A240A NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 243 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TCTTGGAATCGGCACTGACAT 0.572000 7 31 0 0 0.047766 0 0 DDX54 79039 broad.mit.edu 37 12 113599728 113599728 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:113599728C>G ENST00000314045.7 - 18 2297 c.2270G>C c.(2269-2271)cGc>cCc p.R757P DDX54_ENST00000306014.5_Missense_Mutation_p.R757P NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 757 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCTGATGTAGCGGCCGCTCTC 0.582000 48 92 0 0 0.048971 0 0 SCLT1 132320 broad.mit.edu 37 4 130014244 130014244 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:130014244G>C ENST00000281142.5 - 1 518 c.15C>G c.(13-15)atC>atG p.I5M SCLT1_ENST00000434680.1_Missense_Mutation_p.I5M|SCLT1_ENST00000503401.1_Intron|SCLT1_ENST00000506368.1_Missense_Mutation_p.I5M|SCLT1_ENST00000511426.1_Missense_Mutation_p.I5M|SCLT1_ENST00000439369.2_Missense_Mutation_p.I5M|SCLT1_ENST00000503215.1_De_novo_Start_InFrame NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 5 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TCAGAAAGTCGATTTCTGCAG 0.383000 29 15 0 0 0.050027 0 0 KEAP1 9817 broad.mit.edu 37 19 10600447 10600447 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:10600447G>A ENST00000171111.5 - 4 1955 c.1408C>T c.(1408-1410)Cgt>Tgt p.R470C KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.R470C(3)|p.R470S(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) TAAAGGAGACGATTGAGGACA 0.557000 16 13 0 0 0.033300 0 0 PWP2 5822 broad.mit.edu 37 21 45535281 45535281 + Splice_Site SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr21:45535281G>A ENST00000291576.7 + 6 733 c.e6+1 NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CAGCCTGGACGTATGTCCCTT 0.602000 28 84 0 0 0.030593 0 0 DPF3 8110 broad.mit.edu 37 14 73198527 73198527 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr14:73198527G>C ENST00000541685.1 - 4 429 c.417C>G c.(415-417)atC>atG p.I139M DPF3_ENST00000556509.1_Missense_Mutation_p.I139M|DPF3_ENST00000546183.1_Missense_Mutation_p.I149M NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 139 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GTATTTCCTGGATGCTTTCCT 0.577000 5 16 0 0 0.021553 0 0 MYO19 80179 broad.mit.edu 37 17 34863298 34863298 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:34863298G>C ENST00000431794.3 - 16 1929 c.1407C>G c.(1405-1407)aaC>aaG p.N469K MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 469 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AACAGGGCTGGTTGTCCTGGT 0.542000 39 32 0 0 0.039052 0 0 AKR1C4 1109 broad.mit.edu 37 10 5247720 5247720 + Splice_Site SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr10:5247720C>A ENST00000380448.1 + 6 623 c.369_splice c.e6-1 p.P124_splice AKR1C4_ENST00000263126.1_Splice_Site_p.P124_splice P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 124 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) TCTACTTCAGCCAGGTGAGAC 0.448000 20 4 1.00905e-13 1.14316e-13 0.049695 1 0 DNAH1 25981 broad.mit.edu 37 3 52383302 52383302 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:52383302C>G ENST00000420323.2 + 14 2653 c.2392C>G c.(2392-2394)Ccc>Gcc p.P798A NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 798 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGCTCGCTGCCCAGCAGCAT 0.592000 20 8 0 0 0.049695 0 0 CYP3A5 1577 broad.mit.edu 37 7 99258197 99258197 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:99258197A>G ENST00000343703.5 - 11 1307 c.921T>C c.(919-921)acT>acC p.T307T CYP3A5_ENST00000222982.4_Silent_p.T317T|CYP3A5_ENST00000339843.2_3'UTR cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) GTTCATATAAAGTGAAGGAAA 0.473000 17 105 0 0 0.033300 0 0 HAUS6 54801 broad.mit.edu 37 9 19063008 19063008 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr9:19063008C>G ENST00000380502.3 - 14 2094 c.1627G>C c.(1627-1629)Gag>Cag p.E543Q HAUS6_ENST00000380496.1_Missense_Mutation_p.E407Q NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 543 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle p.E543K(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTTCTCACCTCTTCTACCAGA 0.413000 43 138 0 0 0.036044 0 0 ZNF451 26036 broad.mit.edu 37 6 56997884 56997884 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr6:56997884C>T ENST00000370706.4 + 6 713 c.469C>T c.(469-471)Cga>Tga p.R157* RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.R157* NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAGTTCATTCCGAAGAGGAGG 0.393000 15 44 0 0 0.024245 0 0 ERBB2 2064 broad.mit.edu 37 17 37865676 37865676 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:37865676C>T ENST00000406381.2 + 6 965 c.455C>T c.(454-456)aCa>aTa p.T152I ERBB2_ENST00000578199.1_Missense_Mutation_p.T152I|ERBB2_ENST00000540147.1_Missense_Mutation_p.T152I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.T167I|ERBB2_ENST00000540042.1_Missense_Mutation_p.T152I|ERBB2_ENST00000584601.1_Missense_Mutation_p.T152I|ERBB2_ENST00000584450.1_Missense_Mutation_p.T182I|ERBB2_ENST00000269571.5_Missense_Mutation_p.T182I NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 182 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTGGCTCTCACACTGATAGAC 0.562000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 14 36 0 0 0.020292 0 0 IL6 3569 broad.mit.edu 37 7 22766989 22766989 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:22766989G>A ENST00000420258.2 + 1 171 c.108G>A c.(106-108)gcG>gcA p.A36A IL6_ENST00000401630.3_Intron|IL6_ENST00000258743.5_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Intron|IL6_ENST00000401651.1_Intron|IL6_ENST00000404625.1_Intron P05231 IL6_HUMAN interleukin 6 (interferon, beta 2) 0 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) GAGGGCTGGCGGGCGGCCAGC 0.677000 OREG0017891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 0 0 0.016723 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 122 0 0 0.021553 0 0 KLK4 9622 broad.mit.edu 37 19 51411651 51411651 + Nonsense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:51411651G>T ENST00000324041.1 - 4 575 c.576C>A c.(574-576)tgC>tgA p.C192* KLK4_ENST00000431178.2_Intron NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 192 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CTCCGCCGGCGCAGAACATGC 0.622000 56 52 6.3091e-27 7.57939e-27 0.048971 1 0 PLCH1 23007 broad.mit.edu 37 3 155199373 155199373 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:155199373G>T ENST00000460012.1 - 23 4709 c.4352C>A c.(4351-4353)cCt>cAt p.P1451H PLCH1_ENST00000334686.6_Missense_Mutation_p.P1451H|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1451H|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1489H|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1489 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGATTTGCAAGGACTAGGCAG 0.468000 13 59 6.31663e-08 6.89437e-08 0.024245 1 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993685 96993685 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:96993685C>T ENST00000361124.4 + 1 1751 c.1340C>T c.(1339-1341)gCa>gTa p.A447V ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A431V|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.A439V|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A431V NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 439 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCCCATGGAGCATCCCGCCCC 0.562000 42 67 0 0 0.036044 0 0 NUMBL 9253 broad.mit.edu 37 19 41188693 41188693 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:41188693G>A ENST00000252891.4 - 5 506 c.339C>T c.(337-339)tcC>tcT p.S113S NUMBL_ENST00000598779.1_Silent_p.S72S|NUMBL_ENST00000540131.1_Silent_p.S72S NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 113 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding p.S113S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CAGACTTCACGGACTTTCGGC 0.652000 17 133 0 0 0.038395 0 0 KIF1A 547 broad.mit.edu 37 2 241706365 241706365 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:241706365C>T ENST00000498729.2 - 19 1897 c.1651G>A c.(1651-1653)Gtc>Atc p.V551I KIF1A_ENST00000320389.7_Missense_Mutation_p.V542I NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 542 FHA. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTCCGGAAGACGCAGTGCTCC 0.637000 4 8 0 0 0.009096 0 0 ASB4 51666 broad.mit.edu 37 7 95157520 95157520 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:95157520G>C ENST00000325885.5 + 3 954 c.883G>C c.(883-885)Gtc>Ctc p.V295L ASB4_ENST00000428113.1_Missense_Mutation_p.V295L NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 295 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CGTGCTGAAGGTCACCTCCGT 0.572000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 51 0 0 0.058154 0 0 COL24A1 255631 broad.mit.edu 37 1 86590952 86590952 + Missense_Mutation SNP A A C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:86590952A>C ENST00000370571.2 - 3 1433 c.1067T>G c.(1066-1068)aTc>aGc p.I356S COL24A1_ENST00000436319.1_Missense_Mutation_p.I356S NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 356 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TGCCTCACTGATGCGATGAGT 0.418000 25 19 0 0 0.021523 0 0 PDCL 5082 broad.mit.edu 37 9 125585430 125585430 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr9:125585430C>G ENST00000259467.4 - 3 384 c.219G>C c.(217-219)gaG>gaC p.E73D NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 73 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 TCTGCTCTGTCTCCAACTGCT 0.537000 29 124 0 0 0.034045 0 0 CCDC57 284001 broad.mit.edu 37 17 80121141 80121141 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:80121141C>T ENST00000392347.1 - 13 2011 c.1975G>A c.(1975-1977)Gca>Aca p.A659T CCDC57_ENST00000392343.3_Missense_Mutation_p.A659T|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.A659T NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 659 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TTCCTGAGTGCCAGTCCAGAG 0.587000 4 119 0 0 0.009096 0 0 USP22 23326 broad.mit.edu 37 17 20924462 20924462 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:20924462C>T ENST00000261497.4 - 3 585 c.382G>A c.(382-384)Gcc>Acc p.A128T USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.A116T NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 128 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 TCCTCCTTGGCGATTATTTCC 0.483000 18 28 0 0 0.033300 0 0 ZNF707 286075 broad.mit.edu 37 8 144776666 144776666 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr8:144776666G>A ENST00000532205.1 + 8 1981 c.1082G>A c.(1081-1083)cGg>cAg p.R361Q ZNF707_ENST00000418203.2_Missense_Mutation_p.R361Q|ZNF707_ENST00000532158.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000454097.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000358656.4_Missense_Mutation_p.R361Q Q96C28 ZN707_HUMAN zinc finger protein 707 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTCTTCACGCGGCATCAGAGG 0.647000 25 16 0 0 0.027356 0 0 GPR141 353345 broad.mit.edu 37 7 37780320 37780320 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:37780320A>G ENST00000447769.1 + 4 614 c.325A>G c.(325-327)Atc>Gtc p.I109V GPR141_ENST00000334425.1_Missense_Mutation_p.I109V|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 109 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTATGTGGTGATCCTGGTCAC 0.483000 17 58 0 0 0.033300 0 0 ZNF100 163227 broad.mit.edu 37 19 21948566 21948566 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:21948566C>T ENST00000358296.6 - 2 224 c.26G>A c.(25-27)tGt>tAt p.C9Y ZNF100_ENST00000596452.1_5'UTR NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 CTTGAGAGGACACATTCCATA 0.468000 17 45 0 0 0.038395 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530203 80530203 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:80530203C>T ENST00000295057.3 - 2 1398 c.742G>A c.(742-744)Gtg>Atg p.V248M LRRTM1_ENST00000409148.1_Missense_Mutation_p.V248M|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 248 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GAGCTGACCACAATGGCCACC 0.592000 HNSCC(69;0.2) 18 55 0 0 0.038395 0 0 ERN1 2081 broad.mit.edu 37 17 62126509 62126509 + Silent SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:62126509A>T ENST00000433197.2 - 18 2402 c.2307T>A c.(2305-2307)tcT>tcA p.S769S NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 769 Protein kinase. S -> F (in a glioblastoma multiforme sample; somatic mutation). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GGCTGCCCTCAGAGATTACGT 0.557000 18 23 0 0 0.055883 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011784 160011784 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:160011784C>T ENST00000368089.3 - 2 765 c.539G>A c.(538-540)cGt>cAt p.R180H KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 180 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGCTGAAACGAATGGTCTC 0.562000 67 84 0 0 0.048971 0 0 IMPG2 50939 broad.mit.edu 37 3 101038496 101038496 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:101038496A>T ENST00000193391.7 - 2 453 c.266T>A c.(265-267)gTg>gAg p.V89E NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 89 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GCAGATTTTCACTCCATTAGG 0.433000 67 30 0 0 0.048971 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58357778 58357778 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr15:58357778T>C ENST00000249750.4 - 1 838 c.71A>G c.(70-72)cAc>cGc p.H24R ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000537372.1_5'UTR|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.H24R NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 24 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity p.H24L(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CGGCAGGAGGTGCAGCGACGC 0.652000 9 35 0 0 0.047766 0 0 ZHX3 23051 broad.mit.edu 37 20 39832157 39832157 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr20:39832157G>A ENST00000309060.3 - 4 1815 c.1400C>T c.(1399-1401)aCg>aTg p.T467M ZHX3_ENST00000432768.2_Missense_Mutation_p.T467M|ZHX3_ENST00000559234.1_Missense_Mutation_p.T467M|ZHX3_ENST00000560361.1_Missense_Mutation_p.T467M|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.T467M|ZHX3_ENST00000540170.1_Missense_Mutation_p.T467M Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 467 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CACAGCTGACGTTGTATTTGA 0.542000 6 20 0 0 0.021553 0 0 FAT1 2195 broad.mit.edu 37 4 187524463 187524463 + Silent SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:187524463C>A ENST00000441802.2 - 19 11426 c.11217G>T c.(11215-11217)gcG>gcT p.A3739A NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3739 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGTCCAGTCCCGCGCAGAGTT 0.463000 HNSCC(5;0.00058) 17 8 0.00152264 0.00155744 0.055883 1 0 MMP12 4321 broad.mit.edu 37 11 102734976 102734976 + RNA SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr11:102734976C>T ENST00000532855.1 - 0 1308 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGTCTCCTTTCATCATACCTG 0.448000 5 21 0 0 0.021553 0 0 PTPRR 5801 broad.mit.edu 37 12 71078046 71078046 + Splice_Site SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:71078046T>A ENST00000283228.2 - 10 1812 c.e10-2 PTPRR_ENST00000440835.2_Splice_Site|PTPRR_ENST00000378778.1_Splice_Site|PTPRR_ENST00000342084.4_Splice_Site|PTPRR_ENST00000549308.1_Splice_Site NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ACTGTAGCCCTAGATGGAGTA 0.453000 14 27 0 0 0.024245 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135911438 135911438 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:135911438G>A ENST00000264158.8 + 19 2324 c.2281G>A c.(2281-2283)Gca>Aca p.A761T RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A761T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A717T NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 761 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TACACGGGAAGCAGAAAAGGT 0.418000 5 36 0 0 0.029380 0 0 MGAM 8972 broad.mit.edu 37 7 141734603 141734603 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:141734603C>A ENST00000475668.2 + 16 1975 c.1921C>A c.(1921-1923)Cct>Act p.P641T MGAM_ENST00000549489.2_Missense_Mutation_p.P641T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 641 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGGTCCATCCCTGGCGTGCT 0.507000 23 24 3.28513e-13 3.69835e-13 0.021523 1 0 TRPM3 80036 broad.mit.edu 37 9 73164503 73164503 + Missense_Mutation SNP C C A rs139956868 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr9:73164503C>A ENST00000377110.2 - 24 3869 c.3626G>T c.(3625-3627)cGg>cTg p.R1209L TRPM3_ENST00000396285.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1081L|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1068L|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1071L|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1213L|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1081L|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1058L|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1209L|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1236L|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1071L NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1234 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGAGTTGAACCGATCATCCTT 0.423000 30 27 2.61193e-14 2.99702e-14 0.041601 1 0 ZNF572 137209 broad.mit.edu 37 8 125990080 125990080 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr8:125990080G>A ENST00000319286.5 + 3 1724 c.1570G>A c.(1570-1572)Gtc>Atc p.V524I NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTCATTTTCCGTCTCAAATTC 0.428000 HNSCC(60;0.17) 39 49 0 0 0.080422 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560591 67560591 + RNA SNP G G A rs11227961 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr11:67560591G>A ENST00000528089.1 - 0 1159 AGTTTTATCCGCTTTCCCATA 0.413000 3 23 0 0 0.014758 0 0 COL4A5 1287 broad.mit.edu 37 X 107865911 107865911 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chrX:107865911G>A ENST00000328300.6 + 33 3017 c.2773G>A c.(2773-2775)Gat>Aat p.D925N COL4A5_ENST00000361603.2_Missense_Mutation_p.D925N NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 925 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTTAGGTGATGATGGCTTGCA 0.413000 Alport syndrome with Diffuse Leiomyomatosis 19 40 0 0 0.021523 0 0 DHX33 56919 broad.mit.edu 37 17 5365857 5365857 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:5365857T>C ENST00000225296.3 - 3 660 c.460A>G c.(460-462)Aca>Gca p.T154A DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 154 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AAGCGCACTGTATAGCCAACC 0.478000 18 60 0 0 0.038395 0 0 AP3D1 8943 broad.mit.edu 37 19 2121212 2121212 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:2121212G>A ENST00000355272.6 - 13 1406 c.1200C>T c.(1198-1200)atC>atT p.I400I AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I231I|AP3D1_ENST00000345016.5_Silent_p.I400I|AP3D1_ENST00000356926.4_Silent_p.I309I NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 400 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGATGTCAATGATCTTGGTGA 0.582000 26 26 0 0 0.034045 0 0 PIK3CG 5294 broad.mit.edu 37 7 106523581 106523581 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:106523581C>T ENST00000359195.3 + 8 3043 c.2733C>T c.(2731-2733)ctC>ctT p.L911L PIK3CG_ENST00000496166.1_Silent_p.L911L|PIK3CG_ENST00000440650.2_Silent_p.L911L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 911 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ATCACTGGCTCAAAGAAAAAT 0.428000 5 153 0 0 0.014758 0 0 C21orf58 54058 broad.mit.edu 37 21 47737166 47737166 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr21:47737166C>A ENST00000291691.7 - 3 1462 c.326G>T c.(325-327)cGg>cTg p.R109L C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397685.4_Missense_Mutation_p.R26L|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 109 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) CACGTTCTGCCGTTCTTGCTC 0.597000 10 9 0.000673444 0.000700852 0.069234 1 0 CSPP1 79848 broad.mit.edu 37 8 68076024 68076024 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr8:68076024C>T ENST00000262210.5 + 21 2717 c.2686C>T c.(2686-2688)Cgt>Tgt p.R896C CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R551C NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 931 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAATCAGCTCCGTGCAGAAGG 0.383000 11 27 0 0 0.010729 0 0 UBAP2 55833 broad.mit.edu 37 9 33943473 33943473 + Missense_Mutation SNP G G T rs147087482 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr9:33943473G>T ENST00000379238.1 - 15 1777 c.1660C>A c.(1660-1662)Cca>Aca p.P554T UBAP2_ENST00000379239.4_Missense_Mutation_p.P287T|UBAP2_ENST00000379225.1_Missense_Mutation_p.P187T|UBAP2_ENST00000360802.1_Missense_Mutation_p.P554T|UBAP2_ENST00000449054.1_Missense_Mutation_p.P554T|UBAP2_ENST00000539807.1_Missense_Mutation_p.P309T|UBAP2_ENST00000418786.2_Missense_Mutation_p.P501T Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 554 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TCACTGCTTGGAGCTGATCCA 0.408000 17 67 3.70931e-20 4.33966e-20 0.038395 1 0 VPS37C 55048 broad.mit.edu 37 11 60901634 60901634 + Missense_Mutation SNP G G A rs144006897 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr11:60901634G>A ENST00000301765.5 - 3 371 c.139C>T c.(139-141)Cgg>Tgg p.R47W NM_017966.4 NP_060436.4 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37 homolog C (S. cerevisiae) 47 cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GCCAGGCTCCGGTTGGTGGCC 0.582000 22 62 0 0 0.062417 0 0 PTPRB 5787 broad.mit.edu 37 12 70925945 70925945 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:70925945C>A ENST00000334414.6 - 32 6418 c.6374G>T c.(6373-6375)gGt>gTt p.G2125V PTPRB_ENST00000550358.1_Missense_Mutation_p.G2037V|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1817V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1907V|RP11-588H23.3_ENST00000548687.1_RNA NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1907 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CCTACCCACACCAGCACTAGA 0.433000 11 28 5.50884e-06 5.8348e-06 0.013537 1 0 GAPVD1 26130 broad.mit.edu 37 9 128092450 128092450 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr9:128092450A>G ENST00000470056.1 + 11 2286 c.2126A>G c.(2125-2127)gAg>gGg p.E709G GAPVD1_ENST00000312123.9_Missense_Mutation_p.E688G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E709G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E688G|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E709G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E709G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E709G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E709G Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 709 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ACCATATCAGAGACAACAAGT 0.433000 32 98 0 0 0.054565 0 0 GIGYF1 64599 broad.mit.edu 37 7 100285665 100285665 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:100285665T>G ENST00000275732.5 - 2 1313 c.104A>C c.(103-105)aAg>aCg p.K35T GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 35 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GTCAGCCAGCTTGTATTTGGG 0.642000 26 95 0 0 0.021523 0 0 FAM181B 220382 broad.mit.edu 37 11 82444616 82444616 + Silent SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr11:82444616C>A ENST00000329203.3 - 1 290 c.156G>T c.(154-156)tcG>tcT p.S52S NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 52 large_intestine(1)|lung(2)|prostate(1) 4 CTTCGGCTCCCGACAGCAGCG 0.692000 8 11 7.48243e-07 8.02009e-07 0.058154 1 0 PFAS 5198 broad.mit.edu 37 17 8170695 8170695 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:8170695C>T ENST00000314666.6 + 25 3314 c.3181C>T c.(3181-3183)Ccc>Tcc p.P1061S PFAS_ENST00000545834.1_Missense_Mutation_p.P637S NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1061 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAAGGTGGTCCCAGCCCCCG 0.607000 70 110 0 0 0.048971 0 0 ZNF208 7757 broad.mit.edu 37 19 22155123 22155123 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:22155123T>G ENST00000397126.4 - 4 2861 c.2713A>C c.(2713-2715)Act>Cct p.T905P ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCATGTTTAGTAAGGATGGAG 0.378000 8 28 0 0 0.047766 0 0 TRIML2 205860 broad.mit.edu 37 4 189022227 189022227 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:189022227A>G ENST00000512729.1 - 3 687 c.313T>C c.(313-315)Ttc>Ctc p.F105L TRIML2_ENST00000326754.3_Missense_Mutation_p.F105L|TRIML2_ENST00000536972.1_Missense_Mutation_p.F155L NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 105 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ATTTCCTGGAACATCTCCTCT 0.398000 11 15 0 0 0.010729 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906887 164906887 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:164906887C>T ENST00000475390.1 - 2 2175 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K SLITRK3_ENST00000241274.3_Missense_Mutation_p.E578K O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 578 LRRCT 2. integral to membrane p.E578K(1) 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 CTGATGGTTTCGATCCACTGT 0.517000 HNSCC(40;0.11) 6 69 0 0 0.038147 0 0 SUN5 140732 broad.mit.edu 37 20 31583478 31583478 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr20:31583478T>A ENST00000356173.3 - 8 573 c.481A>T c.(481-483)Agc>Tgc p.S161C SUN5_ENST00000375523.3_Missense_Mutation_p.S136C NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 161 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 TGGTTCATGCTACCTCGGAGG 0.493000 44 246 0 0 0.048971 0 0 PLCZ1 89869 broad.mit.edu 37 12 18872484 18872484 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:18872484A>G ENST00000266505.7 - 5 713 c.450T>C c.(448-450)tgT>tgC p.C150C PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000541695.1_Silent_p.C13C|PLCZ1_ENST00000447925.2_Silent_p.C148C Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 150 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAACTTTTCTACATTCATTTT 0.279000 3 17 0 0 0.004672 0 0 MAST4 375449 broad.mit.edu 37 5 66426148 66426148 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr5:66426148G>A ENST00000404260.3 + 15 2173 c.1865G>A c.(1864-1866)cGg>cAg p.R622Q MAST4_ENST00000261569.7_Missense_Mutation_p.R425Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R430Q|MAST4_ENST00000403625.2_Missense_Mutation_p.R619Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R440Q O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 622 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TTTGTGGAGCGGGATATCCTG 0.458000 20 19 0 0 0.062417 0 0 BSN 8927 broad.mit.edu 37 3 49689861 49689861 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:49689861C>T ENST00000296452.4 + 5 2986 c.2872C>T c.(2872-2874)Cgg>Tgg p.R958W NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 958 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CAGTCTGGACCGGGAGCCTGA 0.622000 43 14 0 0 0.039052 0 0 SUMF1 285362 broad.mit.edu 37 3 4494724 4494724 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:4494724T>C ENST00000272902.5 - 2 315 c.280A>G c.(280-282)Atc>Gtc p.I94V SUMF1_ENST00000405420.2_Missense_Mutation_p.I94V|SUMF1_ENST00000458465.2_Missense_Mutation_p.I94V|SUMF1_ENST00000534863.1_Missense_Mutation_p.I94V|SUMF1_ENST00000383843.5_Missense_Mutation_p.I94V NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 94 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) CCAGCAGGGATGGGGACCATC 0.488000 5 11 0 0 0.014758 0 0 CACNG4 27092 broad.mit.edu 37 17 65026643 65026643 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:65026643C>A ENST00000262138.3 + 4 509 c.507C>A c.(505-507)gaC>gaA p.D169E NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 169 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) ACCCGAGTGACAAGCGGGACG 0.547000 35 72 2.68265e-12 3.00122e-12 0.054565 1 0 NXF5 55998 broad.mit.edu 37 X 101092763 101092763 + Nonsense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chrX:101092763T>A ENST00000537026.1 - 14 1269 c.910A>T c.(910-912)Aaa>Taa p.K304* NXF5_ENST00000473265.2_Nonsense_Mutation_p.K304*|NXF5_ENST00000361708.2_Nonsense_Mutation_p.K304* NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 304 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 CAGGGGTCTTTGAGAATTTTT 0.507000 94 23 0 0 0.048971 0 0 TMUB2 79089 broad.mit.edu 37 17 42266692 42266692 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:42266692C>T ENST00000319511.6 + 2 928 c.278C>T c.(277-279)gCg>gTg p.A93V TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.A113V|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.A93V|TMUB2_ENST00000357984.3_Missense_Mutation_p.A93V|TMUB2_ENST00000589856.1_Missense_Mutation_p.A93V|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.A113V|TMUB2_ENST00000589184.1_Intron NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 113 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GCTGAAGAGGCGGGTGAAGGT 0.612000 3 54 0 0 0.004672 0 0 PF4V1 5197 broad.mit.edu 37 4 74719102 74719102 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr4:74719102G>A ENST00000226524.3 + 1 197 c.23G>A c.(22-24)cGc>cAc p.R8H NM_002620.2 NP_002611.1 P10720 PF4V_HUMAN platelet factor 4 variant 1 8 immune response extracellular region chemokine activity|heparin binding endometrium(1)|liver(2) 3 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GCCAGGTCCCGCCTCACCCGC 0.652000 3 11 0 0 0.004672 0 0 DIDO1 11083 broad.mit.edu 37 20 61512534 61512534 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr20:61512534C>T ENST00000266070.4 - 16 5099 c.4774G>A c.(4774-4776)Gag>Aag p.E1592K DIDO1_ENST00000395343.1_Missense_Mutation_p.E1592K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1592 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GCATCTCTCTCGGGCAGGGCA 0.711000 13 15 0 0 0.016723 0 0 MAP2K3 5606 broad.mit.edu 37 17 21215472 21215472 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:21215472C>T ENST00000342679.4 + 10 1042 c.793C>T c.(793-795)Cgg>Tgg p.R265W MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236W NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 265 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GGCCATCCTGCGGTTCCCTTA 0.677000 4 48 0 0 0.014758 0 0 EFTUD2 9343 broad.mit.edu 37 17 42940103 42940103 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:42940103G>A ENST00000426333.2 - 16 1882 c.1585C>T c.(1585-1587)Cgc>Tgc p.R529C EFTUD2_ENST00000402521.3_Missense_Mutation_p.R494C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R519C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R529C NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 529 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) ATCCAAAGGCGGCCCACGGTG 0.597000 3 24 0 0 0.004672 0 0 PIGR 5284 broad.mit.edu 37 1 207105858 207105858 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:207105858G>A ENST00000356495.4 - 8 2134 c.1951C>T c.(1951-1953)Ctg>Ttg p.L651L NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 651 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCACTGCCAGCACCAGGCCC 0.637000 47 65 0 0 0.048971 0 0 F13B 2165 broad.mit.edu 37 1 197032145 197032145 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:197032145G>A ENST00000367412.1 - 2 150 c.107C>T c.(106-108)gCc>gTc p.A36V NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 36 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GTAATATTGGGCAATTCTTCC 0.323000 39 250 0 0 0.042209 0 0 FGD2 221472 broad.mit.edu 37 6 36993640 36993640 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr6:36993640C>T ENST00000274963.8 + 14 1702 c.1531C>T c.(1531-1533)Ctc>Ttc p.L511F NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 511 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|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CCGAGTCTGCCTCCACTGCTA 0.622000 36 7 0 0 0.059317 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307562 39307562 + Missense_Mutation SNP C C T rs3732380 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:39307562C>T ENST00000541347.1 - 2 678 c.439G>A c.(439-441)Gtc>Atc p.V147I CX3CR1_ENST00000358309.3_Missense_Mutation_p.V179I|CX3CR1_ENST00000542107.1_Missense_Mutation_p.V147I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V147I NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 147 V -> I (in dbSNP:rs3732380). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CTGATGGTGACGCCATGCTGC 0.527000 4 48 0 0 0.009096 0 0 CCHCR1 54535 broad.mit.edu 37 6 31113227 31113227 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr6:31113227C>G ENST00000396268.3 - 12 1925 c.1737G>C c.(1735-1737)gaG>gaC p.E579D CCHCR1_ENST00000451521.2_Missense_Mutation_p.E543D|CCHCR1_ENST00000376266.5_Missense_Mutation_p.E490D|CCHCR1_ENST00000396263.2_Intron NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 490 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 AACTTCACCTCTCCTGGCGCA 0.557000 6 31 0 0 0.069234 0 0 ATP8B4 79895 broad.mit.edu 37 15 50273431 50273431 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr15:50273431T>G ENST00000284509.6 - 11 950 c.809A>C c.(808-810)gAt>gCt p.D270A ATP8B4_ENST00000559829.1_Missense_Mutation_p.D270A|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 270 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CATCAATCTATCAATGCTTGT 0.308000 6 33 0 0 0.021553 0 0 MFGE8 4240 broad.mit.edu 37 15 89449094 89449094 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr15:89449094G>A ENST00000539437.1 - 6 691 c.555C>T c.(553-555)gtC>gtT p.V185V MFGE8_ENST00000268150.8_Silent_p.V193V|MFGE8_ENST00000566497.1_Silent_p.V193V|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000542878.1_Silent_p.V149V|MFGE8_ENST00000268151.7_Silent_p.V193V Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 193 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) CAAACAGGTTGACATGCACCG 0.582000 22 62 0 0 0.024334 0 0 CBLB 868 broad.mit.edu 37 3 105456100 105456100 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr3:105456100T>C ENST00000264122.4 - 8 1307 c.986A>G c.(985-987)tAt>tGt p.Y329C CBLB_ENST00000403724.1_Missense_Mutation_p.Y329C|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.Y329C|CBLB_ENST00000394027.3_Missense_Mutation_p.Y351C NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 329 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 AGGATAAAGATAACTGAATTT 0.279000 Mis S AML 25 15 0 0 0.030593 0 0 ACBD6 84320 broad.mit.edu 37 1 180399399 180399399 + Splice_Site SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:180399399T>A ENST00000367595.3 - 4 1072 c.e4-2 NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 CTCTGGTATCTGTGGGAAGGA 0.323000 13 88 0 0 0.016723 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580973 140580973 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr5:140580973C>T ENST00000354757.3 + 1 1626 c.1626C>T c.(1624-1626)agC>agT p.S542S PCDHB11_ENST00000536699.1_Silent_p.S177S NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 542 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCTTTGAGCAGCGAGGCGC 0.692000 31 21 0 0 0.042209 0 0 ZACN 353174 broad.mit.edu 37 17 74077642 74077642 + Missense_Mutation SNP C C T rs140656208 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:74077642C>T ENST00000334586.5 + 7 769 c.686C>T c.(685-687)aCg>aTg p.T229M EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 229 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 CTGAAGAACACGGCGCTCAAG 0.662000 30 83 0 0 0.045705 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47423172 47423172 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:47423172C>T ENST00000404338.3 + 1 1240 c.1240C>T c.(1240-1242)Cag>Tag p.Q414* NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 414 FF 2. Q -> A (in Ref. 1; AAF80386 and 6; AAA58618). axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CCCTGCAGAGCAGCTATACGA 0.468000 73 30 0 0 0.048971 0 0 CELSR2 1952 broad.mit.edu 37 1 109794098 109794098 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:109794098C>T ENST00000271332.3 + 1 1458 c.1397C>T c.(1396-1398)aCg>aTg p.T466M NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 466 Cadherin 3. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GACTATGAGACGACCAAGGAG 0.547000 38 113 0 0 0.069456 0 0 TMEM184A 202915 broad.mit.edu 37 7 1590490 1590490 + Nonsense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:1590490G>T ENST00000297477.5 - 3 664 c.348C>A c.(346-348)taC>taA p.Y116* NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 116 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) AGTAGACGTAGTACTGGTGGT 0.642000 33 20 7.63505e-26 9.05082e-26 0.050027 1 0 TMEM150B 284417 broad.mit.edu 37 19 55831420 55831420 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:55831420A>T ENST00000326652.4 - 6 493 c.311T>A c.(310-312)gTa>gAa p.V104E TMEM150B_ENST00000438693.1_Missense_Mutation_p.V104E A6NC51 T150B_HUMAN transmembrane protein 150B 104 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 GAAATTGCCTACCACGGAGGT 0.617000 63 12 0 0 0.048971 0 0 MSTO1 55154 broad.mit.edu 37 1 155582074 155582074 + Silent SNP C C T rs423975 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr1:155582074C>T ENST00000245564.2 + 8 804 c.780C>T c.(778-780)acC>acT p.T260T MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.T225T NM_001256532.1|NM_001256533.1|NM_018116.3 NP_001243461.1|NP_001243462.1|NP_060586.2 Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 260 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) GAATAATAACCTGGGGCCTGC 0.552000 6 49 0 0 0.021553 0 0 CDH9 1007 broad.mit.edu 37 5 26885873 26885873 + Nonsense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr5:26885873G>A ENST00000231021.4 - 11 1904 c.1732C>T c.(1732-1734)Caa>Taa p.Q578* NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 578 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GTGCTGCTTTGAATTGGATAA 0.458000 5 24 0 0 0.014758 0 0 CCDC132 55610 broad.mit.edu 37 7 92979233 92979233 + Nonstop_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:92979233T>G ENST00000541136.1 + 24 2342 c.1780T>G c.(1780-1782)Tag>Gag p.*594E CCDC132_ENST00000535481.1_Missense_Mutation_p.V504G|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.V754G|CCDC132_ENST00000305866.5_Missense_Mutation_p.V784G Q96JG6 CC132_HUMAN coiled-coil domain containing 132 0 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TACTGGATTGTAGCTGGTAAA 0.338000 16 88 0 0 0.033300 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 3 6 --- --- --- --- SP100 6672 broad.mit.edu 37 2 231379989 231379990 + Frame_Shift_Ins INS - - A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:231379989_231379990insA ENST00000264052.5 + 25 2629_2630 c.2274_2275insA c.(2272-2277)gaaaaafs p.EK758fs SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 758 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTAAAGGGGAGAAAAAAAAGAA 0.421 19 26 --- --- --- --- PLSCR1 5359 broad.mit.edu 37 3 146246596 146246597 + Frame_Shift_Ins INS - - T rs78850778 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:146246596_146246597insT ENST00000342435.4 - 4 526_527 c.116_117insA c.(115-117)tccfs p.S39fs PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Frame_Shift_Ins_p.S32fs NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 39 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 GGGGCCCAGGGTAGCCACTATA 0.500 11 65 --- --- --- --- ZNF775 285971 broad.mit.edu 37 7 150095175 150095176 + Frame_Shift_Del DEL GC GC - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:150095175_150095176delGC ENST00000329630.5 + 3 1713_1714 c.1606_1607delGC c.(1606-1608)gfs p.A536fs NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAAGGAGGAGGCGCGCTAGTGG 0.693 7 8 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 11 35 --- --- --- --- ARAP1 116985 broad.mit.edu 37 11 72425238 72425238 + Frame_Shift_Del DEL G G - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:72425238delG ENST00000359373.5 - 4 1489 c.638delC c.(637-639)cgfs p.P213fs ARAP1_ENST00000455638.2_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000334211.8_5'UTR Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 213 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 AGGTATCTCCGGGGGGCAGGG 0.652 2 4 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174141 13174142 + RNA INS - - AACAAC rs112328257 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:13174141_13174142insAACAAC ENST00000543321.1 + 0 1025 tctgtctcaaaaacaacaacaa 0.550 3 4 --- --- --- --- ABCC9 10060 broad.mit.edu 37 12 22061049 22061054 + In_Frame_Del DEL TAAAGT TAAAGT - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:22061049_22061054delTAAAGT ENST00000261200.4 - 9 1411_1416 c.1412_1417delACTTTA c.(1411-1419)ttt>t p.YFI471del ABCC9_ENST00000345162.2_In_Frame_Del_p.YFI471del|ABCC9_ENST00000261201.4_In_Frame_Del_p.YFI471del NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 471 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTGTAGCAATAAAGTACTGAATTGG 0.364 12 26 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49447085 49447086 + Frame_Shift_Ins INS - - AC TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:49447085_49447086insAC ENST00000301067.7 - 7 857_858 c.858_859insGT c.(856-861)tcagatfs p.D287fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ACCAACATCTTAGAGTCATTCC 0.455 46 88 --- --- --- --- ELK3 2004 broad.mit.edu 37 12 96641028 96641029 + Frame_Shift_Ins INS - - C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:96641028_96641029insC ENST00000228741.3 + 3 844_845 c.518_519insC c.(517-519)accfs p.T173fs ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 173 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.V176fs*14(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CCCGAAGACAGCCCCCCCGTGG 0.579 11 66 --- --- --- --- ISLR2 57611 broad.mit.edu 37 15 74425155 74425155 + Frame_Shift_Del DEL C C - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr15:74425155delC ENST00000361742.3 + 4 829 c.60delC c.(58-60)tgfs p.C20fs ISLR2_ENST00000565540.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000565159.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000435464.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000445793.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000419208.1_Frame_Shift_Del_p.C20fs NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 20 LRRNT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 CCGGATCATGCCCGGAGCCGT 0.617 18 49 --- --- --- --- ZNF233 353355 broad.mit.edu 37 19 44778149 44778232 + In_Frame_Del DEL CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC - rs148651556 byFrequency TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC ENST00000391958.2 + 5 1463_1546 c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC c.(1336-1419)del p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) CCAGAGAGTTCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATCCACACTGGAG 0.437 26 24 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 3 5 --- --- --- --- RETSAT 54884 broad.mit.edu 37 2 85570875 85570878 + Frame_Shift_Del DEL AGAT AGAT - rs70953934 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:85570875_85570878delAGAT ENST00000295802.4 - 10 1689_1692 c.1577_1580delATCT c.(1576-1581)tgfs p.YL526fs RETSAT_ENST00000457495.2_Frame_Shift_Del_p.YL465fs|RETSAT_ENST00000263854.6_Frame_Shift_Del_p.LS470fs|RETSAT_ENST00000475624.2_5'UTR NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 526 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) GGGAGCAGCCAGATAGAACTGGTT 0.637 9 35 --- --- --- --- SP100 6672 broad.mit.edu 37 2 231379989 231379990 + Frame_Shift_Ins INS - - A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr2:231379989_231379990insA ENST00000264052.5 + 25 2629_2630 c.2274_2275insA c.(2272-2277)gaaaaafs p.EK758fs SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 758 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTAAAGGGGAGAAAAAAAAGAA 0.421 19 26 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11871470 11871481 + In_Frame_Del DEL GCAGCGGCAGCG GCAGCGGCAGCG - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr7:11871470_11871481delGCAGCGGCAGCG ENST00000423059.3 - 1 343_354 c.92_103delCGCTGCCGCTGC c.(91-105)ctc>c p.PLPLL31del NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 31 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) agcagcaggagcagcggcagcggcagcggcag 0.774 HNSCC(18;0.044) 4 9 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 11 35 --- --- --- --- ARAP1 116985 broad.mit.edu 37 11 72425238 72425238 + Frame_Shift_Del DEL G G - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr11:72425238delG ENST00000359373.5 - 4 1489 c.638delC c.(637-639)cgfs p.P213fs ARAP1_ENST00000455638.2_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000426523.1_5'UTR Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 213 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 AGGTATCTCCGGGGGGCAGGG 0.652 2 4 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174141 13174142 + RNA INS - - AACAAC rs112328257 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:13174141_13174142insAACAAC ENST00000543321.1 + 0 1025 tctgtctcaaaaacaacaacaa 0.550 3 4 --- --- --- --- ABCC9 10060 broad.mit.edu 37 12 22061049 22061054 + In_Frame_Del DEL TAAAGT TAAAGT - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:22061049_22061054delTAAAGT ENST00000261200.4 - 9 1411_1416 c.1412_1417delACTTTA c.(1411-1419)ttt>t p.YFI471del ABCC9_ENST00000345162.2_In_Frame_Del_p.YFI471del|ABCC9_ENST00000261201.4_In_Frame_Del_p.YFI471del NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 471 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTGTAGCAATAAAGTACTGAATTGG 0.364 12 26 --- --- --- --- ELK3 2004 broad.mit.edu 37 12 96641028 96641029 + Frame_Shift_Ins INS - - C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr12:96641028_96641029insC ENST00000228741.3 + 3 844_845 c.518_519insC c.(517-519)accfs p.T173fs ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 173 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.V176fs*14(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CCCGAAGACAGCCCCCCCGTGG 0.579 11 66 --- --- --- --- EFCAB13 124989 broad.mit.edu 37 17 45419342 45419343 + Frame_Shift_Ins INS - - A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr17:45419342_45419343insA ENST00000331493.2 + 6 658_659 c.247_248insA c.(247-249)aaafs p.K83fs EFCAB13_ENST00000520802.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000517484.1_Frame_Shift_Ins_p.K83fs|ITGB3_ENST00000560629.1_3'UTR NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 TTTTTCAGGAGAAAAAAAAGTT 0.287 10 20 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39899260 39899261 + Frame_Shift_Ins INS - - G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chr19:39899260_39899261insG ENST00000597629.1 + 2 994_995 c.920_921insG c.(919-921)gggfs p.G307fs ZFP36_ENST00000248673.3_Frame_Shift_Ins_p.G301fs P26651 TTP_HUMAN ZFP36 ring finger protein 301 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GTCTTCGAGGCGGGAGTTTTTG 0.619 11 162 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ef7b45-cd0e-4d59-a0ee-35a8c830120c 2db53391-19dc-48e2-9636-d744b534591e g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 7 82 --- --- --- ---