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 VPS37B 79720 broad.mit.edu 37 12 123351949 123351949 + Missense_Mutation SNP T T G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr12:123351949T>G ENST00000267202.2 - 4 953 c.572A>C c.(571-573)tAc>tCc p.Y191S NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 191 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane p.Y191S(2) breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) TGGGGCAGGGTAGGGAAGGGG 0.706000 8 32 0 0 0.003163 0 0 IGFL4 444882 broad.mit.edu 37 19 46543657 46543657 + Missense_Mutation SNP A A G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr19:46543657A>G ENST00000377697.1 - 3 141 c.88T>C c.(88-90)Tgc>Cgc p.C30R IGFL4_ENST00000595006.1_5'UTR|IGFL4_ENST00000601672.1_5'UTR NM_001002923.1 NP_001002923.1 Q6B9Z1 IGFL4_HUMAN IGF-like family member 4 30 extracellular region cervix(1)|kidney(1)|lung(1) 3 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) GCTGGCTGGCATAGCCACAGT 0.602000 4 91 0 0 0.000602 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 3 56 0 0 0.000248 0 0 OTOP2 92736 broad.mit.edu 37 17 72926756 72926756 + Silent SNP C C A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr17:72926756C>A ENST00000331427.4 + 6 1118 c.1026C>A c.(1024-1026)gtC>gtA p.V342V OTOP2_ENST00000580223.1_Silent_p.V342V NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 342 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CCACCTTGGTCAGCCTGAGCG 0.612000 15 55 1.5739e-10 3.90195e-10 0.004007 1 0 EPRS 2058 broad.mit.edu 37 1 220198558 220198558 + Missense_Mutation SNP C C G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr1:220198558C>G ENST00000366923.3 - 7 935 c.666G>C c.(664-666)caG>caC p.Q222H NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 222 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CCTGGTAGTGCTGGTTCAGAA 0.318000 3 45 0 0 0.000248 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147051354 147051354 + Nonsense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr5:147051354G>A ENST00000265272.5 - 2 483 c.16C>T c.(16-18)Cga>Tga p.R6* JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R6* NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 6 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTTATTTCGCCCTTTCTTG 0.458000 11 47 0 0 0.000978 0 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 4 82 0 0 0.001168 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678318 65678318 + Missense_Mutation SNP T T G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr15:65678318T>G ENST00000352385.2 - 18 3240 c.3031A>C c.(3031-3033)Agc>Cgc p.S1011R NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1011 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GCTGGGGGGCTGGGGGGGCCA 0.667000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 0 0 0.001368 0 0 WDR33 55339 broad.mit.edu 37 2 128477839 128477839 + Missense_Mutation SNP G G C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr2:128477839G>C ENST00000322313.4 - 16 1918 c.1760C>G c.(1759-1761)cCt>cGt p.P587R NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 587 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCCTGGAAAAGGCTGGGGTCC 0.493000 5 115 0 0 0.001168 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906055 164906055 + Missense_Mutation SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr3:164906055C>T ENST00000475390.1 - 2 3007 c.2564G>A c.(2563-2565)gGa>gAa p.G855E SLITRK3_ENST00000241274.3_Missense_Mutation_p.G855E O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 855 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 TGCCAAGTCTCCCCCAGTTCC 0.567000 HNSCC(40;0.11) 48 69 0 0 0.003610 0 0 NSUN7 79730 broad.mit.edu 37 4 40776343 40776343 + Missense_Mutation SNP A A G rs148671827 TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr4:40776343A>G ENST00000381782.2 + 5 1045 c.550A>G c.(550-552)Att>Gtt p.I184V NSUN7_ENST00000316607.5_Missense_Mutation_p.I184V|NSUN7_ENST00000463952.1_3'UTR NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TGCCCTTTCAATTTACCACAT 0.373000 4 82 0 0 0.000248 0 0 EED 8726 broad.mit.edu 37 11 85977149 85977149 + Missense_Mutation SNP A A G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr11:85977149A>G ENST00000263360.6 + 8 1437 c.751A>G c.(751-753)Ata>Gta p.I251V EED_ENST00000351625.6_Missense_Mutation_p.I251V|EED_ENST00000528180.1_Intron|EED_ENST00000327320.4_Missense_Mutation_p.I251V NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 251 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GGGTGAAAAAATAATGTCCTG 0.284000 5 86 0 0 0.000602 0 0 MCM3 4172 broad.mit.edu 37 6 52129524 52129524 + Silent SNP G G A rs111523955 TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr6:52129524G>A ENST00000596288.1 - 17 2451 c.2424C>T c.(2422-2424)atC>atT p.I808I MCM3_ENST00000229854.7_Silent_p.I763I|MCM3_ENST00000419835.2_Silent_p.I717I NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 763 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) GATTCATGCCGATTGACTGCG 0.527000 70 128 0 0 0.003610 0 0 ADCY8 114 broad.mit.edu 37 8 131848585 131848585 + Silent SNP C C A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr8:131848585C>A ENST00000286355.5 - 12 4705 c.2613G>T c.(2611-2613)ctG>ctT p.L871L ADCY8_ENST00000377928.3_Silent_p.L740L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 871 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCTCAGTGAGCAGGGCATAGA 0.557000 HNSCC(32;0.087) 26 25 7.92952e-12 2.05133e-11 0.003954 1 0 AQP6 363 broad.mit.edu 37 12 50367285 50367285 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr12:50367285G>A ENST00000315520.5 + 1 666 c.329G>A c.(328-330)gGg>gAg p.G110E AQP6_ENST00000551733.1_Intron NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 110 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CAGCTGGTGGGGGCCACGGTG 0.677000 7 29 0 0 0.003080 0 0 OR14I1 401994 broad.mit.edu 37 1 248845498 248845498 + Silent SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr1:248845498C>T ENST00000342623.3 - 1 131 c.108G>A c.(106-108)gtG>gtA p.V36V NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 36 V -> A (in dbSNP:rs4462184). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TCCCCACCAGCACTGCCAGAT 0.498000 9 41 0 0 0.004990 0 0 TNNC1 7134 broad.mit.edu 37 3 52485804 52485804 + Silent SNP C C G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr3:52485804C>G ENST00000232975.3 - 4 327 c.273G>C c.(271-273)ggG>ggC p.G91G NM_003280.2 NP_003271.1 P63316 TNNC1_HUMAN troponin C type 1 (slow) 91 cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding endometrium(1)|lung(3)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) CCTCAGATTTCCCTTTGCTGT 0.567000 4 98 0 0 0.000248 0 0 LAMA5 3911 broad.mit.edu 37 20 60887079 60887079 + Missense_Mutation SNP G G C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr20:60887079G>C ENST00000252999.3 - 70 9598 c.9532C>G c.(9532-9534)Cag>Gag p.Q3178E NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3178 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACGGCCCTGCTGCAGGGAC 0.637000 20 51 0 0 0.001216 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478657 21478657 + Missense_Mutation SNP T T C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr3:21478657T>C ENST00000281523.2 - 5 996 c.478A>G c.(478-480)Act>Gct p.T160A ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 160 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATTTCCACAGTTGTCGTCGTT 0.428000 14 65 0 0 0.002450 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968514 99968514 + Nonsense_Mutation SNP G G T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr10:99968514G>T ENST00000298999.3 + 5 946 c.643G>T c.(643-645)Gag>Tag p.E215* R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.E215*|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like CAAGGTTTTGGAGATACTATA 0.358000 23 22 5.35356e-11 1.35548e-10 0.002780 1 0 CES5A 221223 broad.mit.edu 37 16 55886942 55886942 + Splice_Site SNP T T A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr16:55886942T>A ENST00000521992.1 - 11 1358 c.e11-2 CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000520435.1_Splice_Site|CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000290567.9_Splice_Site|CES5A_ENST00000541580.1_Splice_Site NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CGGGATGTGCTGTAAAAATAT 0.458000 5 78 0 0 0.001168 0 0 FOXK2 3607 broad.mit.edu 37 17 80544992 80544992 + Missense_Mutation SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr17:80544992C>T ENST00000335255.5 + 8 1804 c.1630C>T c.(1630-1632)Cgg>Tgg p.R544W NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 544 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CACTGCCAGCCGGATCATTCA 0.488000 43 82 0 0 0.003610 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22487009 22487009 + Missense_Mutation SNP T T C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr12:22487009T>C ENST00000396037.4 - 1 639 c.158A>G c.(157-159)aAc>aGc p.N53S ST8SIA1_ENST00000404299.3_Missense_Mutation_p.N53S|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.N53S NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 53 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 CTCTTTCTCGTTGGGCAGCCG 0.662000 4 130 0 0 0.001168 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 15 0 0 0.004672 0 0 FASTK 10922 broad.mit.edu 37 7 150775088 150775088 + Missense_Mutation SNP C C A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr7:150775088C>A ENST00000297532.6 - 5 994 c.917G>T c.(916-918)cGg>cTg p.R306L FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R279L|FASTK_ENST00000353841.2_Missense_Mutation_p.R165L NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 306 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) CCCTGCTTCCCGAGCCAGGAT 0.577000 4 181 0.00116845 0.00267394 0.001168 1 0 FSCB 84075 broad.mit.edu 37 14 44973729 44973729 + Missense_Mutation SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr14:44973729C>T ENST00000340446.4 - 1 2753 c.2462G>A c.(2461-2463)cGt>cAt p.R821H NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 821 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TTCAGGAGGACGTTGTTTTAA 0.388000 4 52 0 0 0.000602 0 0 ICMT 23463 broad.mit.edu 37 1 6291980 6291980 + Nonsense_Mutation SNP G G T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr1:6291980G>T ENST00000343813.5 - 4 682 c.654C>A c.(652-654)taC>taA p.Y218* NM_012405.3 NP_036537.1 O60725 ICMT_HUMAN isoprenylcysteine carboxyl methyltransferase 218 protein targeting to membrane endoplasmic reticulum membrane|integral to membrane|membrane fraction protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity NS(1)|endometrium(2) 3 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CAATACTCCAGTAAAACCACC 0.363000 14 60 5.01169e-05 0.000119278 0.004990 1 0 CASC4 113201 broad.mit.edu 37 15 44581275 44581275 + Silent SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr15:44581275C>T ENST00000299957.6 + 1 347 c.48C>T c.(46-48)ctC>ctT p.L16L CASC4_ENST00000360824.3_Silent_p.L16L|CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000345795.2_Silent_p.L16L NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 16 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) TGCCCTCTCTCGTGCTGGTGG 0.677000 42 58 0 0 0.003214 0 0 AP1G1 164 broad.mit.edu 37 16 71768593 71768593 + Silent SNP G G C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr16:71768593G>C ENST00000299980.4 - 22 2727 c.2286C>G c.(2284-2286)ctC>ctG p.L762L AP1G1_ENST00000393512.3_Silent_p.L765L|AP1G1_ENST00000433195.2_Silent_p.L785L|AP1G1_ENST00000423132.2_Silent_p.L765L|AP1G1_ENST00000569748.1_Silent_p.L762L|AP1G1_ENST00000564155.1_Silent_p.L187L NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 762 GAE. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) TAGGAGACAAGAGCTGCAGCT 0.463000 15 316 0 0 0.002450 0 0 RINT1 60561 broad.mit.edu 37 7 105190850 105190850 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr7:105190850G>A ENST00000257700.2 + 9 1481 c.1250G>A c.(1249-1251)gGc>gAc p.G417D NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 417 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGTGTTCATGGCTATCCTGGC 0.418000 12 242 0 0 0.002450 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 43 0 0 0.000248 0 0 DEFB118 117285 broad.mit.edu 37 20 29960791 29960791 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr20:29960791C>T ENST00000253381.2 + 2 223 c.190C>T c.(190-192)Cga>Tga p.R64* NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 64 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGACCACAGGCGAGTTCCTGC 0.438000 9 110 0 0 0.000673 0 0 APBB1 322 broad.mit.edu 37 11 6422860 6422860 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr11:6422860G>A ENST00000389906.2 - 9 1546 c.1447C>T c.(1447-1449)Cgc>Tgc p.R483C APBB1_ENST00000533407.1_Missense_Mutation_p.R222C|APBB1_ENST00000530885.1_Missense_Mutation_p.R261C|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R481C|APBB1_ENST00000299402.6_Missense_Mutation_p.R481C NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 483 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GCCTCACAGCGAAACACGTGG 0.577000 7 84 0 0 0.000443 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130217771 130217771 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chrX:130217771G>A ENST00000276211.5 + 4 728 c.383G>A c.(382-384)cGc>cAc p.R128H ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R116H|ARHGAP36_ENST00000370921.1_5'UTR NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 128 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TTTACCCGCCGCAAGCATCTT 0.562000 36 168 0 0 0.003610 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594528 41594528 + Missense_Mutation SNP C C G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr19:41594528C>G ENST00000330436.3 + 1 152 c.152C>G c.(151-153)aCa>aGa p.T51R NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 51 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CAGCTGAACACAGAGCAGATG 0.602000 11 121 0 0 0.000673 0 0 GNAL 2774 broad.mit.edu 37 18 11752905 11752905 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr18:11752905G>A ENST00000334049.6 + 2 1038 c.430G>A c.(430-432)Gtc>Atc p.V144I GNAL_ENST00000535121.1_Missense_Mutation_p.V67I|GNAL_ENST00000423027.3_Missense_Mutation_p.V67I|GNAL_ENST00000269162.5_Missense_Mutation_p.V67I NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 67 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 GATCCTGCACGTCAATGGGTT 0.468000 14 22 0 0 0.002450 0 0 LCN1 3933 broad.mit.edu 37 9 138413373 138413373 + Silent SNP T T C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr9:138413373T>C ENST00000263598.2 + 1 90 c.30T>C c.(28-30)ctT>ctC p.L10L LCN1_ENST00000371781.3_Silent_p.L10L NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 10 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity p.L10L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) CCGTCAGCCTTGGCCTCATTG 0.667000 3 32 0 0 0.000248 0 0 RYR2 6262 broad.mit.edu 37 1 237758830 237758830 + Missense_Mutation SNP C C A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr1:237758830C>A ENST00000366574.2 + 34 4786 c.4469C>A c.(4468-4470)gCg>gAg p.A1490E RYR2_ENST00000360064.6_Missense_Mutation_p.A1488E|RYR2_ENST00000542537.1_Missense_Mutation_p.A1474E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1490 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A1488V(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGGTATGTGCGGGTGAGAGC 0.463000 8 30 1.12685e-05 2.73664e-05 0.004482 1 0 TBP 6908 broad.mit.edu 37 6 170871049 170871049 + Silent SNP G G A rs10592951 TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr6:170871049G>A ENST00000392092.2 + 3 504 c.225G>A c.(223-225)caG>caA p.Q75Q TBP_ENST00000540980.1_Silent_p.Q55Q|TBP_ENST00000230354.6_Silent_p.Q75Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 75 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q75Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacagcaacagcagcagcagc 0.567000 4 66 0 0 0.000248 0 0 LAMA4 3910 broad.mit.edu 37 6 112508668 112508668 + Missense_Mutation SNP G G C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr6:112508668G>C ENST00000230538.7 - 8 1347 c.950C>G c.(949-951)aCc>aGc p.T317S LAMA4_ENST00000424408.2_Missense_Mutation_p.T310S|LAMA4_ENST00000522006.1_Missense_Mutation_p.T310S|LAMA4_ENST00000389463.4_Missense_Mutation_p.T310S NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 317 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GAGGTAGATGGTGGCGTTGAT 0.537000 3 83 0 0 0.000248 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121668634 121668634 + Missense_Mutation SNP T T G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr7:121668634T>G ENST00000393386.2 + 14 5428 c.5017T>G c.(5017-5019)Tta>Gta p.L1673V PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L813V NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1673 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACACTTTTACTTAGAGGACAG 0.383000 7 79 0 0 0.004482 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 53 0 0 0.000602 0 0 SGK223 0 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 9 14 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123843326 123843327 + In_Frame_Ins INS - - GGATCA TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr10:123843326_123843327insGGATCA ENST00000369005.1 + 4 1651_1652 c.1311_1312insGGATCA c.(1309-1314)ccgatc>ccGGATCAgatc p.437_438PI>PDQI TACC2_ENST00000515603.1_In_Frame_Ins_p.437_438PI>PDQI|TACC2_ENST00000515273.1_In_Frame_Ins_p.437_438PI>PDQI|TACC2_ENST00000334433.3_In_Frame_Ins_p.437_438PI>PDQI|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_In_Frame_Ins_p.437_438PI>PDQI NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 437 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TAGAAGAACCTGGATCATCATC 0.545 42 111 --- --- --- --- MALAT1 0 broad.mit.edu 37 11 65267849 65267852 + RNA DEL ATTA ATTA - TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr11:65267849_65267852delATTA ENST00000534336.1 + 0 2617_2620 NR_002819.2 GAGGACTAGCATTAATTGACAGCT 0.387 13 41 --- --- --- --- SLITRK2 84631 broad.mit.edu 37 X 144905417 144905417 + Frame_Shift_Del DEL G G - TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chrX:144905417delG ENST00000370490.1 + 1 5729 c.1474delG c.(1474-1476)ggfs p.G493fs SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.G493fs Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 493 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TAATATATTTGGGGGGACGGC 0.453 8 228 --- --- --- ---