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 PNLIPRP1 5407 broad.mit.edu 37 10 118364948 118364948 + Missense_Mutation SNP T T C TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr10:118364948T>C ENST00000528052.1 + 12 1294 c.1223T>C c.(1222-1224)cTg>cCg p.L408P PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L408P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L408P P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 408 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GATGCAAAGCTGGATGTTGGA 0.413000 6 89 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32261388 32261388 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr6:32261388C>T ENST00000375015.4 - 26 1259 c.1059G>A c.(1057-1059)acG>acA p.T353T C6orf10_ENST00000442822.2_Silent_p.T345T|C6orf10_ENST00000375007.4_Silent_p.T352T|C6orf10_ENST00000447241.2_Silent_p.T354T|C6orf10_ENST00000533191.1_Silent_p.T352T|C6orf10_ENST00000527965.1_Silent_p.T338T Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 354 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 ACCCACTCTTCGTTACTTGGG 0.468000 20 124 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101582955 101582955 + Splice_Site SNP C C A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr5:101582955C>A ENST00000310954.6 - 10 2098 c.e10+1 NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GTGCTACATACCTTAGGATAG 0.378000 9 48 3.09899e-07 3.2665e-07 1 1 0 TEAD3 7005 broad.mit.edu 37 6 35445110 35445110 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr6:35445110C>T ENST00000338863.7 - 8 797 c.570G>A c.(568-570)ccG>ccA p.P190P TEAD3_ENST00000402886.3_Silent_p.P130P NM_003214.3 NP_003205.2 Q99594 TEAD3_HUMAN TEA domain family member 3 190 Pro-rich.|Transcriptional activation (Potential). female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 GCGGCAGGGGCGGCTGGATGG 0.627000 3 20 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1406358 1406358 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr5:1406358C>T ENST00000270349.9 - 12 1671 c.1544G>A c.(1543-1545)cGg>cAg p.R515Q SLC6A3_ENST00000453492.2_Missense_Mutation_p.R515Q NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 515 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CAGGCTGGGCCGCTGCCCGGT 0.652000 9 114 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30667667 30667667 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr20:30667667C>T ENST00000534862.1 + 7 822 c.459C>T c.(457-459)agC>agT p.S153S HCK_ENST00000538448.1_Silent_p.S152S|HCK_ENST00000375862.2_Silent_p.S172S|HCK_ENST00000375852.2_Silent_p.S173S|HCK_ENST00000518730.1_Silent_p.S151S|HCK_ENST00000520553.1_Silent_p.S152S NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 173 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCCGGGATAGCGAGACCACTA 0.612000 4 25 0 0 1 0 0 ASS1 445 broad.mit.edu 37 9 133333962 133333962 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr9:133333962G>A ENST00000372394.1 + 5 830 c.349G>A c.(349-351)Ggc>Agc p.G117S ASS1_ENST00000352480.5_Missense_Mutation_p.G117S|ASS1_ENST00000372393.3_Missense_Mutation_p.G117S P00966 ASSY_HUMAN argininosuccinate synthase 1 117 G -> D (in CTLN1).|G -> S (in CTLN1). arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) TGTGTCCCACGGCGCCACAGG 0.657000 5 22 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040564 107040564 + Missense_Mutation SNP C C T rs55993306 by1000genomes TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr2:107040564C>T ENST00000409886.3 - 20 3946 c.3859G>A c.(3859-3861)Gag>Aag p.E1287K RGPD3_ENST00000304514.7_Missense_Mutation_p.E1287K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1287 intracellular transport binding p.E1287K(2) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GTTGTTGACTCATCAAAGTGG 0.408000 12 249 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181133 19181133 + Silent SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:19181133G>A ENST00000375371.3 - 3 852 c.831C>T c.(829-831)ccC>ccT p.P277P RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 277 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGGTCAGGTCGGGCGAGAACA 0.632000 6 45 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835492 247835492 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:247835492C>T ENST00000359688.2 - 1 873 c.852G>A c.(850-852)ccG>ccA p.P284P RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGTACACCATCGGGTTTAATG 0.438000 16 81 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406511 55406511 + Nonsense_Mutation SNP C C A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr11:55406511C>A ENST00000314612.2 + 1 678 c.678C>A c.(676-678)taC>taA p.Y226* NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TCAGAGCATACTCTGCAGAGA 0.388000 6 62 3.59834e-05 3.74227e-05 1 1 0 IGHD 0 broad.mit.edu 37 14 106307396 106307396 + RNA SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr14:106307396C>T ENST00000390556.2 - 0 641 CCTTCCTCCACGCCCCCTGTG 0.672000 4 13 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921093 24921093 + Missense_Mutation SNP C C A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr15:24921093C>A ENST00000329468.2 + 1 553 c.79C>A c.(79-81)Ccc>Acc p.P27T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGCCCCCGCTCCCCTGTCCCG 0.701000 6 18 0.0215528 0.0218327 1 1 0 DPP10 57628 broad.mit.edu 37 2 116497433 116497433 + Silent SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr2:116497433G>A ENST00000410059.1 + 9 1296 c.816G>A c.(814-816)gcG>gcA p.A272A DPP10_ENST00000393147.2_Silent_p.A276A|DPP10_ENST00000310323.8_Silent_p.A265A|DPP10_ENST00000409163.1_Silent_p.A222A NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 272 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TTACTGGAGCGTTGTATCCCA 0.458000 19 119 0 0 1 0 0 SRSF11 9295 broad.mit.edu 37 1 70715634 70715634 + Splice_Site SNP G G C TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:70715634G>C ENST00000370950.3 + 11 1104 c.e11-1 SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 TGTGATTCTAGAGAGAGACGA 0.418000 5 37 0 0 1 0 0 IGHV3-53 0 broad.mit.edu 37 14 107048694 107048694 + RNA SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr14:107048694G>A ENST00000390627.2 - 0 546 ATACACGGCCGTGTCCTCGGC 0.552000 31 228 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292257 6292257 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr11:6292257C>T ENST00000525462.1 + 4 1038 c.1035C>T c.(1033-1035)aaC>aaT p.N345N CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000334619.2_Silent_p.N276N P32239 GASR_HUMAN cholecystokinin B receptor 276 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TTCACCAGAACGGGCGTTGCC 0.662000 13 110 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3937518 3937518 + Silent SNP G G A rs35511240 byFrequency TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr17:3937518G>A ENST00000381638.2 - 40 6499 c.6375C>T c.(6373-6375)aaC>aaT p.N2125N NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2125 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGTGGCCTGCGTTTGAGATGA 0.527000 6 72 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202702739 202702739 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:202702739C>T ENST00000367265.3 - 23 4863 c.3699G>A c.(3697-3699)ctG>ctA p.L1233L KDM5B_ENST00000367264.2_Silent_p.L1269L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1233 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CGAGCAGGGGCAGAATTTTCT 0.532000 14 68 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136494954 136494954 + Missense_Mutation SNP A A G TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr6:136494954A>G ENST00000308191.6 + 9 1034 c.731A>G c.(730-732)aAt>aGt p.N244S RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 244 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) GTGCTGGAGAATCATCACTGG 0.428000 10 40 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919425 142919425 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr7:142919425G>A ENST00000408947.3 + 1 296 c.254G>A c.(253-255)cGa>cAa p.R85Q NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 85 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) CTGCTATTCCGAATTGTTTAT 0.433000 12 113 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584347 30584347 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr20:30584347C>T ENST00000217299.3 + 3 1001 c.827C>T c.(826-828)aCg>aTg p.T276M NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 276 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTGGCCTGGACGCTGGCCTCC 0.701000 6 35 0 0 1 0 0 SURF2 6835 broad.mit.edu 37 9 136227174 136227174 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr9:136227174C>T ENST00000371964.4 + 5 592 c.551C>T c.(550-552)aCg>aTg p.T184M NM_017503.3 NP_059973.3 Q15527 SURF2_HUMAN surfeit 2 184 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) CTTGGAAGCACGGAGGATGGG 0.527000 4 49 0 0 1 0 0 LPO 0 broad.mit.edu 37 17 56343663 56343663 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr17:56343663C>T ENST00000262290.4 + 11 1985 c.1669C>T c.(1669-1671)Cgt>Tgt p.R557C LPO_ENST00000543544.1_Missense_Mutation_p.R498C|LPO_ENST00000582328.1_Missense_Mutation_p.R474C|LPO_ENST00000421678.2_Missense_Mutation_p.R474C NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 557 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CAACACACAGCGTTGCCGGGA 0.502000 7 53 0 0 1 0 0 CWC22 57703 broad.mit.edu 37 2 180810177 180810177 + Silent SNP A A G TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr2:180810177A>G ENST00000410053.3 - 20 2705 c.2406T>C c.(2404-2406)aaT>aaC p.N802N CWC22_ENST00000295749.6_Silent_p.N802N NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 802 catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 GGTCTCTGTCATTCGCAACTC 0.353000 9 117 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976382 131976382 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr2:131976382G>A ENST00000356920.5 + 1 501 c.407G>A c.(406-408)cGt>cAt p.R136H PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 136 ATP binding TACCACGTCCGTGGAGAAGAT 0.592000 13 90 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25959052 25959052 + Missense_Mutation SNP A A G TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr15:25959052A>G ENST00000356865.6 - 10 2224 c.2113T>C c.(2113-2115)Tat>Cat p.Y705H NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 705 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CTGGCCGCATACACCAGTGCG 0.662000 21 86 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102995846 102995846 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr11:102995846G>A ENST00000375735.2 + 12 1823 c.1679G>A c.(1678-1680)cGa>cAa p.R560Q DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R560Q|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R560Q NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 560 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GCTAGTAGTCGAATTATGGAA 0.333000 7 14 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113539707 113539707 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr12:113539707G>A ENST00000546530.1 - 20 2500 c.2215C>T c.(2215-2217)Cgg>Tgg p.R739W RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 737 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 AGCTGGTCCCGCCCCAGGAGC 0.627000 5 47 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921092 24921092 + Silent SNP T T A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr15:24921092T>A ENST00000329468.2 + 1 552 c.78T>A c.(76-78)gcT>gcA p.A26A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GCGCCCCCGCTCCCCTGTCCC 0.701000 5 19 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55131161 55131161 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr4:55131161G>A ENST00000257290.5 + 5 1035 c.704G>A c.(703-705)tGt>tAt p.C235Y FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 235 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.C235Y(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTGGTCACCTGTGCTGTTTTT 0.443000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 510 129 0 0 1 0 0 BRF1 2972 broad.mit.edu 37 14 105688184 105688184 + Silent SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr14:105688184G>A ENST00000546474.1 - 11 16075 c.1116C>T c.(1114-1116)gcC>gcT p.A372A BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000440513.3_Silent_p.A257A|BRF1_ENST00000392557.4_Silent_p.A168A|BRF1_ENST00000327359.3_Silent_p.A257A|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Silent_p.A345A|BRF1_ENST00000446501.2_Silent_p.A134A NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 372 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GGCTGGCCGCGGCTTCCAGCT 0.637000 4 21 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1406386 1406386 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr5:1406386C>T ENST00000270349.9 - 12 1643 c.1516G>A c.(1516-1518)Gac>Aac p.D506N SLC6A3_ENST00000453492.2_Missense_Mutation_p.D506N NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 506 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGGATGTCGTCGCTGAACTGC 0.642000 11 117 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 40 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31040081 31040081 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr19:31040081C>T ENST00000355537.3 + 4 3702 c.3555C>T c.(3553-3555)acC>acT p.T1185T NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ATGTTGAAACCGAACCGGAAA 0.572000 8 70 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369135 20369135 + RNA SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr19:20369135C>T ENST00000593655.1 - 0 199 caaagtgtggcgttttcctaa 0.458000 4 26 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53995560 53995560 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:53995560C>T ENST00000312233.2 - 4 1427 c.861G>A c.(859-861)acG>acA p.T287T NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 287 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GCTTCTCGCCCGTGTGGCTCC 0.637000 9 65 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89979459 89979459 + Silent SNP T T C TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr5:89979459T>C ENST00000405460.2 + 28 5817 c.5721T>C c.(5719-5721)tcT>tcC p.S1907S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1907 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACATAGACTCTGATCCTGATG 0.403000 3 25 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54424345 54424345 + Missense_Mutation SNP G G T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr5:54424345G>T ENST00000334206.5 - 7 974 c.798C>A c.(796-798)aaC>aaA p.N266K CDC20B_ENST00000322374.6_Missense_Mutation_p.N266K|CDC20B_ENST00000381375.2_Missense_Mutation_p.N266K|CDC20B_ENST00000296733.1_Missense_Mutation_p.N266K Q86Y33 CD20B_HUMAN cell division cycle 20B 266 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TTAAGTCTATGTTTTCAATCC 0.448000 8 68 0.00448238 0.00460034 1 1 0 EFCAB1 79645 broad.mit.edu 37 8 49643961 49643961 + Nonsense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr8:49643961G>A ENST00000262103.3 - 2 240 c.160C>T c.(160-162)Cga>Tga p.R54* EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron NM_024593.3 NP_078869.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 54 calcium ion binding endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) AGGATGTTTCGAAATGCATTA 0.393000 6 31 0 0 1 0 0 HS3ST6 64711 broad.mit.edu 37 16 1962006 1962006 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr16:1962006C>T ENST00000454677.2 - 2 730 c.665G>A c.(664-666)cGc>cAc p.R222H HS3ST6_ENST00000293937.3_Missense_Mutation_p.R205H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R174H C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 174 endometrium(2)|lung(2) 4 GGCCAGGGCGCGGAAGCTGGG 0.716000 9 42 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47304014 47304014 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr11:47304014C>T ENST00000342922.4 + 9 1909 c.1552C>T c.(1552-1554)Cgg>Tgg p.R518W MADD_ENST00000402192.2_Missense_Mutation_p.R518W|MADD_ENST00000395336.3_Missense_Mutation_p.R518W|MADD_ENST00000349238.3_Missense_Mutation_p.R518W|MADD_ENST00000311027.5_Missense_Mutation_p.R518W|MADD_ENST00000395344.3_Missense_Mutation_p.R518W|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000406482.1_Missense_Mutation_p.R518W|MADD_ENST00000407859.3_Missense_Mutation_p.R518W|MADD_ENST00000402799.1_Missense_Mutation_p.R518W NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 518 dDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CCTCTTTCCTCGGCCTGTGGT 0.562000 10 85 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101476897 101476897 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr3:101476897C>T ENST00000341893.3 + 9 2199 c.1447C>T c.(1447-1449)Cct>Tct p.P483S CEP97_ENST00000494050.1_Missense_Mutation_p.P424S|CEP97_ENST00000327230.4_Missense_Mutation_p.P483S Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 483 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TGGACTATTACCTTGTCCTGA 0.378000 16 75 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117067417 117067417 + Missense_Mutation SNP G G A rs113501399 TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr7:117067417G>A ENST00000284629.2 - 1 160 c.98C>T c.(97-99)aCg>aTg p.T33M NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 33 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TACCTGAGACGTCCGGTCGAG 0.657000 24 148 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233953 84233953 + Nonsense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr6:84233953C>T ENST00000536636.1 + 3 1138 c.793C>T c.(793-795)Cga>Tga p.R265* PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R265* NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 265 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGGCTGGGCACGAGGAGGCAT 0.527000 8 60 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130497110 130497110 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr6:130497110C>T ENST00000532763.1 - 7 821 c.692G>A c.(691-693)cGa>cAa p.R231Q SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 233 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TATGGGTCTTCGAACATATTT 0.343000 9 43 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129902797 129902797 + Missense_Mutation SNP T T C TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr10:129902797T>C ENST00000368654.3 - 13 7682 c.7307A>G c.(7306-7308)gAc>gGc p.D2436G MKI67_ENST00000368653.3_Missense_Mutation_p.D2076G NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2436 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCCAACCAGGTCCTCTAGAGC 0.473000 25 101 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182988131 182988131 + Missense_Mutation SNP A A G TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr3:182988131A>G ENST00000326505.3 + 2 1075 c.545A>G c.(544-546)tAt>tGt p.Y182C B3GNT5_ENST00000465010.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 182 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GCAAATACCTATTGTCCACAT 0.333000 19 82 0 0 1 0 0 LILRA3 0 broad.mit.edu 37 19 54803127 54803127 + Missense_Mutation SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr19:54803127C>T ENST00000391745.1 - 8 917 c.601G>A c.(601-603)Gtg>Atg p.V201M LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.V184M leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 p.V184M(1) NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACGGGGCCCACGGAGAAGATG 0.567000 23 177 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178922364 178922364 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr3:178922364G>A ENST00000263967.3 + 6 1290 c.1133G>A c.(1132-1134)tGt>tAt p.C378Y NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 378 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.C378Y(2)|p.C378F(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGAGTACCTTGTTCCAATCCC 0.328000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 49 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228487678 228487678 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:228487678G>A ENST00000570156.2 + 51 13644 c.13570G>A c.(13570-13572)Gtg>Atg p.V4524M OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.V1214M|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3567 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCGGCCCCCGTGGAGTGGAG 0.557000 9 55 0 0 1 0 0 TET2 54790 broad.mit.edu 37 4 106157894 106157894 + Missense_Mutation SNP A A G TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr4:106157894A>G ENST00000513237.1 + 3 3655 c.2858A>G c.(2857-2859)gAc>gGc p.D953G TET2_ENST00000380013.4_Missense_Mutation_p.D932G|TET2_ENST00000413648.2_Missense_Mutation_p.D932G|TET2_ENST00000545826.1_Missense_Mutation_p.D932G|TET2_ENST00000305737.2_Missense_Mutation_p.D932G|TET2_ENST00000394764.1_Missense_Mutation_p.D932G|TET2_ENST00000540549.1_Missense_Mutation_p.D932G Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 932 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CCTGTGCCTGACCAGGGAGGA 0.453000 """Mis N, F""" MDS 12 37 0 0 1 0 0 LILRB2 0 broad.mit.edu 37 19 54783825 54783825 + Missense_Mutation SNP C C T rs141797988 TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr19:54783825C>T ENST00000391748.1 - 4 303 c.176G>A c.(175-177)cGt>cAt p.R59H LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.R59H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R59H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R59H|LILRB2_ENST00000434421.1_Intron NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 59 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCTATATAGACGGTACTCCTG 0.547000 24 178 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171079965 171079965 + Silent SNP C C G TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:171079965C>G ENST00000367755.4 + 6 765 c.654C>G c.(652-654)tcC>tcG p.S218S FMO3_ENST00000542847.1_Silent_p.S198S|FMO3_ENST00000392085.2_Silent_p.S218S|FMO3_ENST00000538429.1_Silent_p.S155S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 218 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAAGTGGCTCCTGGGTGATGA 0.473000 10 96 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133911 91133911 + Missense_Mutation SNP C C A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chrX:91133911C>A ENST00000373094.1 + 2 3517 c.2672C>A c.(2671-2673)aCt>aAt p.T891N PCDH11X_ENST00000373097.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T891N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T891N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 891 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ATTGAAGAAACTAAGGCAGAT 0.373000 15 44 4.29497e-23 4.65288e-23 1 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113517983 113517983 + Missense_Mutation SNP G G A TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr7:113517983G>A ENST00000284601.3 - 4 3232 c.3164C>T c.(3163-3165)cCt>cTt p.P1055L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1055 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTCCTCAACAGGAAGACTAGT 0.363000 18 150 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196716352 196716352 + Missense_Mutation SNP A A T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:196716352A>T ENST00000367429.4 + 22 3845 c.3605A>T c.(3604-3606)aAa>aTa p.K1202I NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1202 Sushi 20. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTTGTGTGTAAACGGGGATAT 0.383000 15 85 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579059 55579059 + Missense_Mutation SNP G G T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr11:55579059G>T ENST00000333973.2 + 1 206 c.117G>T c.(115-117)ttG>ttT p.L39F NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GAGTCACGTTGTTAGCCAACC 0.507000 33 209 4.74835e-14 5.07358e-14 1 1 0 MAP1S 55201 broad.mit.edu 37 19 17845112 17845112 + Missense_Mutation SNP G G C rs71762031 TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr19:17845112G>C ENST00000324096.4 + 7 3206 c.3055G>C c.(3055-3057)Gcc>Ccc p.A1019P CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A993P NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 1019 Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CGACTCGGTGGCCATGCATAC 0.657000 6 56 0 0 1 0 0 JHDM1D 0 broad.mit.edu 37 7 139810958 139810958 + Missense_Mutation SNP A A C TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr7:139810958A>C ENST00000397560.2 - 11 1462 c.1365T>G c.(1363-1365)atT>atG p.I455M JHDM1D_ENST00000006967.5_Missense_Mutation_p.I455M NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 455 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) CATTGTCTGGAATTTCAAAGG 0.294000 6 35 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28581601 28581601 + Missense_Mutation SNP G G A rs114935867 byFrequency TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr18:28581601G>A ENST00000434452.1 - 14 2372 c.2218C>T c.(2218-2220)Cct>Tct p.P740S DSC3_ENST00000360428.4_Missense_Mutation_p.P740S NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 740 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TCGTCTCCAGGTGCTTCTGTG 0.308000 5 65 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958224 49958224 + Silent SNP G G A rs140947270 TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chrX:49958224G>A ENST00000376056.2 - 5 1263 c.1113C>T c.(1111-1113)tcC>tcT p.S371S AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.S380S|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.S371S Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 380 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding p.S380S(2) NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CAATCAAATCGGACACAATCT 0.463000 7 20 0 0 1 0 0 CROCCP3 0 broad.mit.edu 37 1 16809717 16809735 + RNA DEL CCACTGATGTTATGCCCAG CCACTGATGTTATGCCCAG - rs142465067 by1000genomes TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr1:16809717_16809735delCCACTGATGTTATGCCCAG ENST00000263511.4 - 0 2004 NR_023386.1 GCATAAGGCTCCACTGATGTTATGCCCAGCCGCCGACTT 0.516 5 2 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 3 4 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78401085 78401105 + In_Frame_Del DEL CCAAGCTTCTCCTTCTGGTTC CCAAGCTTCTCCTTCTGGTTC - TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr12:78401085_78401105delCCAAGCTTCTCCTTCTGGTTC ENST00000397909.2 + 8 1940_1960 c.1767_1787delCCAAGCTTCTCCTTCTGGTTC c.(1765-1788)ggc>gg p.GQASPSGS589del NAV3_ENST00000228327.6_In_Frame_Del_p.GQASPSGS589del|NAV3_ENST00000266692.7_In_Frame_Del_p.GQASPSGS589del|NAV3_ENST00000536525.2_In_Frame_Del_p.GQASPSGS589del Q8IVL0 NAV3_HUMAN neuron navigator 3 589 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GGGAAGCTGGCCAAGCTTCTCCTTCTGGTTCCTGTACCATG 0.534 HNSCC(70;0.22) 7 119 --- --- --- --- RP11-1028N23.4 0 broad.mit.edu 37 12 116030327 116030327 + RNA DEL T T - TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr12:116030327delT ENST00000551940.1 - 0 343 ctccattttcTTTTTTTTTTT 0.473 2 4 --- --- --- --- FBXW10 10517 broad.mit.edu 37 17 18675863 18675866 + Frame_Shift_Del DEL TCTC TCTC - TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr17:18675863_18675866delTCTC ENST00000308799.4 + 11 2451_2454 c.2232_2235delTCTC c.(2230-2235)atfs p.IL744fs FBXW10_ENST00000301938.4_Frame_Shift_Del_p.IL662fs|FBXW10_ENST00000395665.4_Frame_Shift_Del_p.IL715fs|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.IL715fs Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 715 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 TCATGGAAATTCTCTCTAAGTGTA 0.417 28 170 --- --- --- --- EVPL 2125 broad.mit.edu 37 17 74003773 74003775 + In_Frame_Del DEL TTG TTG - TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4addcc44-a8dd-453c-b647-71d8683f0c32 f15ab5d5-4fc4-467e-b1e6-b4ed73459895 g.chr17:74003773_74003775delTTG ENST00000301607.3 - 22 5764_5766 c.5511_5513delCAA c.(5509-5514)aag>aa p.NK1837del EVPL_ENST00000586740.1_In_Frame_Del_p.NK1859del NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1837 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GATGCTGCACTTGTTGTCTGTGG 0.611 29 215 --- --- --- ---