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 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 7 327 0 0 1 0 0 MED30 90390 broad.mit.edu 37 8 118533268 118533268 + Silent SNP C C A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr8:118533268C>A ENST00000297347.3 + 1 317 c.153C>A c.(151-153)atC>atA p.I51I MED30_ENST00000522839.1_Silent_p.I51I NM_080651.2 NP_542382.1 Q96HR3 MED30_HUMAN mediator complex subunit 30 51 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding kidney(1)|lung(3)|prostate(3) 7 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) CCATGGAGATCTTCCAGCTCC 0.657000 28 19 1.74807e-11 1.90141e-11 1 1 0 TXNDC2 0 broad.mit.edu 37 18 9887095 9887095 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr18:9887095G>A ENST00000306084.6 + 2 818 c.619G>A c.(619-621)Ggt>Agt p.G207S TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.G140S NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 207 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GCCCAAAGAGGGTGACATCCC 0.567000 4 125 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56868873 56868873 + Silent SNP T T C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr12:56868873T>C ENST00000311966.4 - 10 1229 c.951A>G c.(949-951)acA>acG p.T317T GLS2_ENST00000476991.1_5'UTR NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 317 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCCGATCCCCTGTTTCCTTCT 0.473000 32 98 0 0 1 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54974737 54974737 + Missense_Mutation SNP T T C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr12:54974737T>C ENST00000547431.1 - 4 308 c.281A>G c.(280-282)gAg>gGg p.E94G PPP1R1A_ENST00000257905.8_Silent_p.G167G Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1A 95 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 CCGAGTTGGCTCCCTTGGAAT 0.498000 71 114 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15561724 15561724 + Nonsense_Mutation SNP G G T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr21:15561724G>T ENST00000344577.2 - 2 151 c.126C>A c.(124-126)tgC>tgA p.C42* LIPI_ENST00000536861.1_Nonsense_Mutation_p.C21* NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 21 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AGAATTCAAGGCATGGTCTTT 0.338000 16 50 4.96729e-08 5.21986e-08 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 6 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140235918 140235918 + Silent SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr5:140235918C>T ENST00000307360.5 + 1 285 c.285C>T c.(283-285)tgC>tgT p.C95C PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.C95C|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGCTGTGCGGGCGGAGCG 0.557000 4 203 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14509388 14509388 + Missense_Mutation SNP T T C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr3:14509388T>C ENST00000454876.2 + 8 1224 c.895T>C c.(895-897)Ttc>Ctc p.F299L SLC6A6_ENST00000360861.3_Missense_Mutation_p.F299L P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 299 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 GACTCAGATATTCTTCTCTTA 0.577000 OREG0015421 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 25 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56341013 56341013 + Silent SNP A A T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr6:56341013A>T ENST00000370754.5 - 92 21704 c.21705T>A c.(21703-21705)acT>acA p.T7235T DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.T6731T|DST_ENST00000370769.4_Silent_p.T7057T|DST_ENST00000244364.6_Silent_p.T4643T|DST_ENST00000421834.2_Silent_p.T4969T|DST_ENST00000370788.2_Silent_p.T4860T|DST_ENST00000361203.3_Silent_p.T6946T Q03001 DYST_HUMAN dystonin 7055 EF-hand 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATCCTTATCAGTAAGTGTAG 0.433000 12 21 0 0 1 0 0 EI24 9538 broad.mit.edu 37 11 125452260 125452260 + Missense_Mutation SNP C C G TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr11:125452260C>G ENST00000278903.6 + 10 1046 c.804C>G c.(802-804)atC>atG p.I268M STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Missense_Mutation_p.S231C NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 268 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TTTTCTCTATCCTCTTTCCTT 0.353000 3 10 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43825643 43825643 + Missense_Mutation SNP A A T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr1:43825643A>T ENST00000372462.1 + 4 634 c.431A>T c.(430-432)tAt>tTt p.Y144F CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.Y144F Q12834 CDC20_HUMAN cell division cycle 20 144 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCCACAGGTTATCAGAACAGA 0.522000 5 158 0 0 1 0 0 ZMYND15 84225 broad.mit.edu 37 17 4648068 4648068 + Missense_Mutation SNP T T C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr17:4648068T>C ENST00000433935.1 + 11 1889 c.1832T>C c.(1831-1833)gTt>gCt p.V611A ZMYND15_ENST00000573751.2_Missense_Mutation_p.V611A|ZMYND15_ENST00000269289.6_Missense_Mutation_p.V572A|ZMYND15_ENST00000592813.1_Missense_Mutation_p.V572A NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 572 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CCTGACCTGGTTATTGGTAAA 0.602000 16 19 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 7 469 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887098 9887098 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr18:9887098G>A ENST00000306084.6 + 2 821 c.622G>A c.(622-624)Gac>Aac p.D208N TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.D141N NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 208 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CAAAGAGGGTGACATCCCCAA 0.557000 4 121 0 0 1 0 0 AC004381.6 0 broad.mit.edu 37 16 20856421 20856421 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr16:20856421C>T ENST00000261377.6 + 18 2191 c.1982C>T c.(1981-1983)aCa>aTa p.T661I AC004381.6_ENST00000564274.1_Missense_Mutation_p.T661I|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T630I|ERI2_ENST00000564349.1_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 AACATTCTCACAGGCAAGGAC 0.532000 20 29 0 0 1 0 0 CSDC2 27254 broad.mit.edu 37 22 41970869 41970869 + Missense_Mutation SNP G G C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr22:41970869G>C ENST00000306149.7 + 4 976 c.432G>C c.(430-432)gaG>gaC p.E144D NM_014460.3 NP_055275.1 Q9Y534 CSDC2_HUMAN cold shock domain containing C2, RNA binding 144 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|RNA binding prostate(2)|upper_aerodigestive_tract(1) 3 CTCCCCACGAGACGTGGTCTG 0.652000 5 10 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77651486 77651486 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr3:77651486G>A ENST00000461745.1 + 20 3880 c.2980G>A c.(2980-2982)Gct>Act p.A994T ROBO2_ENST00000332191.8_Missense_Mutation_p.A994T|ROBO2_ENST00000487694.3_Missense_Mutation_p.A1010T NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 994 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AATAACACAGGCTACCCCATA 0.438000 21 25 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7049115 7049115 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr18:7049115G>A ENST00000389658.3 - 5 823 c.730C>T c.(730-732)Cgg>Tgg p.R244W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 244 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTAGGTTCCCGGTGGCTAAGG 0.428000 30 57 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99251295 99251295 + Missense_Mutation SNP A A G TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr15:99251295A>G ENST00000268035.6 + 2 1210 c.599A>G c.(598-600)gAg>gGg p.E200G IGF1R_ENST00000558762.1_Missense_Mutation_p.E200G NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 200 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ATCAACAATGAGTACAACTAC 0.517000 25 42 0 0 1 0 0 ZIM3 0 broad.mit.edu 37 19 57646680 57646680 + Missense_Mutation SNP T T A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr19:57646680T>A ENST00000269834.1 - 5 1410 c.1025A>T c.(1024-1026)aAg>aTg p.K342M NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAAAAGGCCTTCTCACATAT 0.408000 59 88 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817063 129817063 + RNA SNP C C T rs142072122 by1000genomes TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr3:129817063C>T ENST00000507643.1 + 0 647 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CTCTGCTCTTCAGTATTTTGC 0.552000 3 34 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41807484 41807484 + Silent SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr5:41807484C>T ENST00000196371.5 - 8 949 c.789G>A c.(787-789)caG>caA p.Q263Q OXCT1_ENST00000509987.1_Silent_p.Q77Q NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 263 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) GTACATAAATCTGAGGAATAT 0.348000 27 98 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50870746 50870746 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr10:50870746G>A ENST00000395562.2 + 15 2118 c.1649G>A c.(1648-1650)cGg>cAg p.R550Q CHAT_ENST00000337653.2_Missense_Mutation_p.R632Q|CHAT_ENST00000395559.2_Missense_Mutation_p.R514Q|CHAT_ENST00000339797.1_Missense_Mutation_p.R514Q|CHAT_ENST00000351556.3_Missense_Mutation_p.R514Q|CHAT_ENST00000455728.2_Missense_Mutation_p.R514Q NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 632 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GAGCTGGCCCGGGCCATGTGC 0.587000 41 63 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39019295 39019295 + Missense_Mutation SNP A A G TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr19:39019295A>G ENST00000355481.4 + 74 11110 c.10979A>G c.(10978-10980)gAa>gGa p.E3660G RYR1_ENST00000360985.3_Missense_Mutation_p.E3665G|RYR1_ENST00000359596.3_Missense_Mutation_p.E3665G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3665 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ATCCTGACTGAAGACCACAGT 0.627000 25 41 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123286202 123286202 + Silent SNP C C A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr12:123286202C>A ENST00000253079.6 + 9 1853 c.1509C>A c.(1507-1509)gcC>gcA p.A503A CCDC62_ENST00000537566.1_Silent_p.A264A|CCDC62_ENST00000392440.2_Silent_p.A264A|CCDC62_ENST00000392441.4_Silent_p.A503A NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 503 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) AAAATGAAGCCTGTCTGGGCG 0.478000 3 50 1 1 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|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, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 46 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45805762 45805762 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr19:45805762C>T ENST00000262891.4 + 17 2384 c.2053C>T c.(2053-2055)Cgc>Tgc p.R685C MARK4_ENST00000300843.4_3'UTR NM_001199867.1 NP_001186796.1 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 685 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGCAGCCGCCCGCTGCCGCTG 0.731000 15 28 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41807440 41807440 + Missense_Mutation SNP C C A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr5:41807440C>A ENST00000196371.5 - 8 993 c.833G>T c.(832-834)aGa>aTa p.R278I OXCT1_ENST00000509987.1_Missense_Mutation_p.R92I NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 278 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) TACCTCAATTCTTTTCTCATA 0.403000 13 61 3.27435e-08 3.50017e-08 1 1 0 RFC3 5983 broad.mit.edu 37 13 34399991 34399991 + Missense_Mutation SNP A A C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr13:34399991A>C ENST00000380071.3 + 4 489 c.359A>C c.(358-360)cAa>cCa p.Q120P RFC3_ENST00000434425.1_Missense_Mutation_p.Q120P NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 120 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) CAATCACAACAACTTGAAACA 0.358000 12 34 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63721245 63721245 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr7:63721245G>A ENST00000421025.1 + 4 469 c.200G>A c.(199-201)tGt>tAt p.C67Y ZNF679_ENST00000255746.4_Missense_Mutation_p.C67Y NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TTGATCACCTGTCTGGAGCAA 0.363000 22 24 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35222776 35222776 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr14:35222776C>T ENST00000360310.1 - 27 5176 c.4609G>A c.(4609-4611)Gtc>Atc p.V1537I BAZ1A_ENST00000358716.4_Missense_Mutation_p.V1505I|BAZ1A_ENST00000382422.2_Missense_Mutation_p.V1537I NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1537 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding p.V1537I(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CTGGGTGTGACGTGGAGTCCA 0.418000 23 38 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22804358 22804358 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr18:22804358G>A ENST00000361524.3 - 4 3672 c.3524C>T c.(3523-3525)aCg>aTg p.T1175M ZNF521_ENST00000538137.2_Missense_Mutation_p.T1175M|ZNF521_ENST00000584787.1_Missense_Mutation_p.T955M NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1175 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.T1175M(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TACTTGGGGCGTTTTCAACTG 0.483000 T PAX5 ALL 33 54 0 0 1 0 0 FNTB 2342 broad.mit.edu 37 14 65471020 65471020 + Missense_Mutation SNP C C G TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr14:65471020C>G ENST00000246166.2 + 2 432 c.198C>G c.(196-198)caC>caG p.H66Q CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.H20Q|FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.H100Q NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGTTCAACCACCTTGTACCAA 0.453000 40 86 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141497196 141497196 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr3:141497196G>A ENST00000264952.2 + 1 207 c.70G>A c.(70-72)Gac>Aac p.D24N NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 24 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 GAAGCCCTCGGACTGCGACAG 0.692000 20 37 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702556 27702556 + Silent SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr10:27702556G>A ENST00000438700.3 - 1 741 c.624C>T c.(622-624)ttC>ttT p.F208F NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 208 spermatid development integral to membrane hedgehog receptor activity p.F208F(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GAAGCGAGACGAAATTGGCTT 0.632000 16 36 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41807525 41807525 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr5:41807525C>T ENST00000196371.5 - 8 908 c.748G>A c.(748-750)Gat>Aat p.D250N OXCT1_ENST00000509987.1_Missense_Mutation_p.D64N NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 250 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) GCTCCAATATCCACAATTTCT 0.303000 27 83 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93108738 93108738 + Nonsense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr7:93108738G>A ENST00000359558.2 - 5 486 c.187C>T c.(187-189)Cga>Tga p.R63* CALCR_ENST00000360249.4_Nonsense_Mutation_p.R45*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.R45* NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 45 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding p.R45*(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ATCTTCTTTCGTCCTACGACG 0.398000 52 73 0 0 1 0 0 TRAV26-2 0 broad.mit.edu 37 14 22670501 22670501 + RNA SNP G G T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr14:22670501G>T ENST00000390460.1 + 0 25 AAGCATTACTGTACTCCTATC 0.448000 6 41 0.0293803 0.0303597 1 1 0 ZCCHC8 55596 broad.mit.edu 37 12 122958560 122958560 + Silent SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr12:122958560G>A ENST00000543897.1 - 12 3249 c.894C>T c.(892-894)agC>agT p.S298S ZCCHC8_ENST00000538116.1_Silent_p.S147S|ZCCHC8_ENST00000536306.1_Silent_p.S298S|ZCCHC8_ENST00000336229.4_Silent_p.S536S Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 536 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) CGCTGTTTACGCTCTCGGCCT 0.552000 62 100 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900492 51900492 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr17:51900492C>T ENST00000268919.4 + 1 254 c.98C>T c.(97-99)gCg>gTg p.A33V NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 33 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATCTACGTGGCGATCCAGCGC 0.552000 11 13 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50341044 50341044 + Silent SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr16:50341044C>T ENST00000394697.2 + 15 2176 c.1836C>T c.(1834-1836)gtC>gtT p.V612V ADCY7_ENST00000566433.2_Silent_p.V612V|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.V612V|ADCY7_ENST00000254235.3_Silent_p.V612V P51828 ADCY7_HUMAN adenylate cyclase 7 612 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TCGTCCATGTCCTGCTCATGC 0.647000 3 12 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23912044 23912044 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr13:23912044C>T ENST00000382298.3 - 10 6559 c.5971G>A c.(5971-5973)Gta>Ata p.V1991I SACS_ENST00000402364.1_Missense_Mutation_p.V1241I|SACS_ENST00000382292.3_Missense_Mutation_p.V1991I NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1991 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGAAATCTTACGTTCTTCATG 0.368000 24 53 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225371708 225371708 + Missense_Mutation SNP A A C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr2:225371708A>C ENST00000264414.4 - 7 1234 c.896T>G c.(895-897)aTg>aGg p.M299R CUL3_ENST00000344951.4_Missense_Mutation_p.M233R|CUL3_ENST00000409096.1_Missense_Mutation_p.M275R|CUL3_ENST00000409777.1_Missense_Mutation_p.M275R NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 299 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding p.M299R(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TAACTTGTACATGCAACCAAG 0.358000 14 23 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575380 12575380 + Silent SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr19:12575380C>T ENST00000397732.3 - 4 1527 c.1356G>A c.(1354-1356)caG>caA p.Q452Q ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 CTTTACCACACTGTTTACATT 0.403000 4 197 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25958882 25958882 + Silent SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr15:25958882G>A ENST00000356865.6 - 10 2394 c.2283C>T c.(2281-2283)atC>atT p.I761I NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 761 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) TGTAGACGTTGATCTCATCGG 0.622000 11 24 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817105 129817105 + RNA SNP A A G TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr3:129817105A>G ENST00000507643.1 + 0 687 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CTGATCCTGAAGGCAAGCTAA 0.527000 5 37 0 0 1 0 0 NCSTN 23385 broad.mit.edu 37 1 160314581 160314581 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr1:160314581G>A ENST00000368063.1 + 3 375 c.95G>A c.(94-96)cGc>cAc p.R32H NCSTN_ENST00000392212.4_Missense_Mutation_p.R32H|NCSTN_ENST00000294785.5_Missense_Mutation_p.R52H|NCSTN_ENST00000535857.1_Missense_Mutation_p.R52H Q92542 NICA_HUMAN nicastrin 52 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCTGTGTTCGCCTGCTCAAC 0.423000 34 17 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103234815 103234815 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr7:103234815C>T ENST00000428762.1 - 26 3823 c.3664G>A c.(3664-3666)Gag>Aag p.E1222K RELN_ENST00000343529.5_Missense_Mutation_p.E1222K|RELN_ENST00000424685.2_Missense_Mutation_p.E1222K NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1222 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCTGCTTCTCGGACAGAATG 0.488000 104 137 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10897283 10897283 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr19:10897283G>A ENST00000314646.5 + 7 1057 c.893G>A c.(892-894)aGc>aAc p.S298N DNM2_ENST00000359692.6_Missense_Mutation_p.S298N|DNM2_ENST00000389253.4_Missense_Mutation_p.S298N|DNM2_ENST00000408974.4_Missense_Mutation_p.S298N|DNM2_ENST00000585892.1_Missense_Mutation_p.S298N|DNM2_ENST00000355667.6_Missense_Mutation_p.S298N P50570 DYN2_HUMAN dynamin 2 298 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GCCCTACGTAGCAAACTACAG 0.597000 """F, N, Splice, Mis, O""" ETP ALL 12 17 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 16026833 16026833 + Silent SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr4:16026833G>A ENST00000505450.1 - 5 1197 c.585C>T c.(583-585)ctC>ctT p.L195L PROM1_ENST00000508167.1_Silent_p.L195L|PROM1_ENST00000539194.1_Silent_p.L204L|PROM1_ENST00000543373.1_Silent_p.L195L|PROM1_ENST00000540805.1_Silent_p.L204L|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000510224.1_Silent_p.L204L|PROM1_ENST00000447510.2_Silent_p.L204L NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 204 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TTTCATTCAAGAGAGTTCGCA 0.403000 45 89 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 119 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195690149 195690149 + RNA SNP A A G TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr3:195690149A>G ENST00000427841.1 - 0 2325 NR_003264.2 TGACACATGCATGAGCTATTA 0.498000 3 7 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32851518 32851518 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr19:32851518C>T ENST00000311921.3 + 4 2546 c.2354C>T c.(2353-2355)cCg>cTg p.P785L ZNF507_ENST00000544431.1_Missense_Mutation_p.P785L|ZNF507_ENST00000355898.5_Missense_Mutation_p.P785L NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 785 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TCTGATAAGCCGTACAGGTAA 0.289000 13 25 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 4 89 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10624677 10624677 + Missense_Mutation SNP G G A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr11:10624677G>A ENST00000547195.1 - 13 2092 c.1592C>T c.(1591-1593)gCc>gTc p.A531V MRVI1_ENST00000558540.1_Missense_Mutation_p.A307V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A531V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A622V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A613V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A307V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A307V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A307V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A416V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A595V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A614V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A531V|LYVE1_ENST00000531706.1_Intron NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 595 Interaction with ITPR1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CTGGCGGACGGCGCCTACCAC 0.612000 7 3 0 0 1 0 0 PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 7 125 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23299146 23299147 + RNA INS - - A TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr15:23299146_23299147insA ENST00000560464.1 - 0 4510 TACATTCAAAGAAAAAAAAAAA 0.317 3 5 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29061756 29061759 + RNA DEL ACTA ACTA - TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64628bbc-a289-40e4-8bbc-ed53b7676771 50308439-7f7d-4b92-8264-c59f4afcedb9 g.chr17:29061756_29061759delACTA ENST00000582557.1 + 0 676_679 TACTGTGCATACTAACTTTCTTGA 0.304 2 4 --- --- --- ---