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 SLC9A6 10479 broad.mit.edu 37 X 135122279 135122279 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:135122279C>A ENST00000370695.4 + 15 1807 c.1772C>A c.(1771-1773)aCa>aAa p.T591K SLC9A6_ENST00000370701.1_Missense_Mutation_p.T539K|SLC9A6_ENST00000370698.3_Missense_Mutation_p.T559K NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 559 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CCGCTGACAACAACACTCCCT 0.502000 11 16 3.27435e-08 3.95542e-08 1 1 0 RBMS1 5937 broad.mit.edu 37 2 161223780 161223780 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:161223780G>C ENST00000348849.3 - 2 628 c.198C>G c.(196-198)atC>atG p.I66M RBMS1_ENST00000409972.1_Missense_Mutation_p.I33M|RBMS1_ENST00000409289.2_Missense_Mutation_p.I33M|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.I66M|RBMS1_ENST00000409075.1_Missense_Mutation_p.I33M NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 66 RRM 1. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) GCAGTCCTCGGATATAGAGGT 0.502000 27 34 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152482118 152482118 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:152482118G>A ENST00000397345.3 - 71 10584 c.10382C>T c.(10381-10383)aCc>aTc p.T3461I NEB_ENST00000172853.10_Missense_Mutation_p.T3218I|NEB_ENST00000427231.2_Missense_Mutation_p.T3461I|NEB_ENST00000603639.1_Missense_Mutation_p.T3461I|NEB_ENST00000409198.1_Missense_Mutation_p.T3218I|NEB_ENST00000604864.1_Missense_Mutation_p.T3461I NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3461 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATGGACTTGGGTCTTGTCTTT 0.328000 6 11 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169764323 169764323 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:169764323G>T ENST00000375363.3 + 5 894 c.802G>T c.(802-804)Ggc>Tgc p.G268C G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 268 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 GGTCCTCTTTGGCTTGGGCTT 0.532000 18 35 4.35082e-09 5.42953e-09 1 1 0 CD226 10666 broad.mit.edu 37 18 67563079 67563079 + Silent SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr18:67563079T>A ENST00000280200.4 - 4 853 c.585A>T c.(583-585)atA>atT p.I195I CD226_ENST00000577287.1_Silent_p.I40I|CD226_ENST00000582621.1_Silent_p.I195I|CD226_ENST00000581982.1_Silent_p.I40I NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 195 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) AGTTGCTCACTATTTGTCTTG 0.542000 25 56 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109383271 109383271 + Silent SNP G G T rs144939595 byFrequency TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:109383271G>T ENST00000283195.6 + 20 6402 c.6276G>T c.(6274-6276)acG>acT p.T2092T NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2092 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TAACGACTACGATGAACCTGA 0.413000 133 283 1.3892e-51 2.66657e-51 1 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50196879 50196879 + Splice_Site SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:50196879C>A ENST00000335999.6 - 4 394 c.e4+1 NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GACCCACAGACCTCGTCCAGA 0.607000 14 54 2.32078e-09 2.94486e-09 1 1 0 KCNJ3 3760 broad.mit.edu 37 2 155555326 155555326 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:155555326G>T ENST00000295101.2 + 1 516 c.39G>T c.(37-39)caG>caT p.Q13H KCNJ3_ENST00000544049.1_Missense_Mutation_p.Q13H NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 13 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ACGATTATCAGGTAGTGACCA 0.607000 19 58 7.33628e-21 1.22632e-20 1 1 0 DAP 1611 broad.mit.edu 37 5 10683654 10683654 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:10683654C>A ENST00000230895.6 - 3 385 c.182G>T c.(181-183)gGg>gTg p.G61V DAP_ENST00000432074.2_Intron NM_004394.2 NP_004385.1 P51397 DAP1_HUMAN death-associated protein 61 activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent death domain binding endometrium(1)|large_intestine(1)|lung(1) 3 Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804) GGCGATGACCCCAGAGATGAA 0.498000 21 159 7.41877e-09 9.15723e-09 1 1 0 DPYS 1807 broad.mit.edu 37 8 105456598 105456598 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:105456598G>T ENST00000351513.2 - 4 803 c.671C>A c.(670-672)gCa>gAa p.A224E NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 224 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGCCTCCACTGCCTCTGGGCG 0.547000 13 28 0.00185496 0.00192728 1 1 0 SLC28A3 64078 broad.mit.edu 37 9 86900992 86900992 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:86900992C>T ENST00000376238.4 - 13 1364 c.1315G>A c.(1315-1317)Gga>Aga p.G439R SLC28A3_ENST00000537648.1_Missense_Mutation_p.G370R|RP11-380F14.2_ENST00000419815.1_RNA NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 439 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GAGGATGCTCCCTGTGTTGCA 0.488000 12 27 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 153005660 153005660 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:153005660C>T ENST00000218104.3 + 6 2002 c.1603C>T c.(1603-1605)Cca>Tca p.P535S U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 535 ABC transporter. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTACAAGCCCCCACCCCAGCG 0.632000 22 81 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67345071 67345071 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr18:67345071G>T ENST00000382713.5 + 4 581 c.391G>T c.(391-393)Gtg>Ttg p.V131L DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 131 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GGCCGCAGGAGTGCAGCGGGA 0.527000 14 31 4.3838e-07 5.1182e-07 1 1 0 DENND2A 27147 broad.mit.edu 37 7 140287578 140287578 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:140287578T>A ENST00000275884.6 - 3 1415 c.998A>T c.(997-999)aAg>aTg p.K333M DENND2A_ENST00000537639.1_Missense_Mutation_p.K333M|DENND2A_ENST00000496613.1_Missense_Mutation_p.K333M|DENND2A_ENST00000492720.1_Missense_Mutation_p.K333M Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 333 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CTCATAGGACTTTCTGGAATG 0.433000 47 20 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021552 5021552 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:5021552G>T ENST00000382545.3 + 2 2115 c.1008G>T c.(1006-1008)ggG>ggT p.G336G KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 336 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCTTCATCGGGGTCATCCTGT 0.552000 40 80 4.00102e-26 7.24984e-26 1 1 0 PEAR1 375033 broad.mit.edu 37 1 156876137 156876137 + Nonsense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:156876137G>A ENST00000338302.3 + 6 602 c.377G>A c.(376-378)tGg>tAg p.W126* PEAR1_ENST00000292357.7_Nonsense_Mutation_p.W126* Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 126 EGF-like 1. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTGCCAGGCTGGCGGGGCGAC 0.622000 16 136 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4479936 4479936 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:4479936G>T ENST00000237837.1 - 3 474 c.329C>A c.(328-330)cCg>cAg p.P110Q NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 110 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GCAGTTCTCCGGGTCGAAATA 0.607000 26 71 3.28513e-13 4.60731e-13 1 1 0 MUC16 94025 broad.mit.edu 37 19 9087985 9087985 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:9087985G>T ENST00000397910.4 - 1 4033 c.3830C>A c.(3829-3831)tCt>tAt p.S1277Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1277 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGTGTGTAAGAGCCAGGTTT 0.483000 103 117 1.09269e-41 2.07978e-41 1 1 0 KCNG1 3755 broad.mit.edu 37 20 49620724 49620724 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:49620724C>A ENST00000371571.4 - 3 1679 c.1394G>T c.(1393-1395)cGc>cTc p.R465L RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 465 R -> P (in Ref. 1; AAC05635). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CAGGTAGGAGCGGGAGAAGGT 0.617000 28 48 3.73988e-18 5.96538e-18 1 1 0 PCLO 27445 broad.mit.edu 37 7 82583881 82583881 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:82583881C>A ENST00000423517.2 - 5 6725 c.6388G>T c.(6388-6390)Gtt>Ttt p.V2130F PCLO_ENST00000333891.8_Missense_Mutation_p.V2130F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2061 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTTATTTTAACATCTGGGATA 0.398000 44 26 5.20837e-25 9.32566e-25 1 1 0 CPN2 1370 broad.mit.edu 37 3 194062731 194062731 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:194062731G>C ENST00000323830.3 - 2 790 c.701C>G c.(700-702)cCt>cGt p.P234R CPN2_ENST00000429275.1_Missense_Mutation_p.P234R NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 234 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GAACACCTGAGGGGGCAGCTC 0.602000 19 26 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201196294 201196294 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:201196294A>T ENST00000335211.4 + 23 11201 c.11071A>T c.(11071-11073)Acg>Tcg p.T3691S IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGCTGAGAACACGCTGGGCCA 0.637000 12 8 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232323096 232323096 + Silent SNP T T G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:232323096T>G ENST00000322723.4 - 8 1410 c.1170A>C c.(1168-1170)cgA>cgC p.R390R NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 390 angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TTCTCGCATCTCGCTCTAGAT 0.408000 14 25 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14613614 14613614 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:14613614C>T ENST00000544627.1 + 9 2688 c.2368C>T c.(2368-2370)Cca>Tca p.P790S ATF7IP_ENST00000540793.1_Missense_Mutation_p.P782S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P781S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P782S|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P781S|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 782 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 ACAGCCTTTGCCAGTGATTTT 0.483000 36 60 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51465633 51465633 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:51465633C>A ENST00000522124.1 + 12 1365 c.704C>A c.(703-705)gCt>gAt p.A235D SNTG1_ENST00000518864.1_Missense_Mutation_p.A235D|SNTG1_ENST00000517473.1_Missense_Mutation_p.A235D|SNTG1_ENST00000276467.5_Missense_Mutation_p.A235D NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 235 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.A235D(2) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CAAGTCATTGCTGTGGATGGG 0.423000 23 68 1.1804e-14 1.7361e-14 1 1 0 CYP27A1 1593 broad.mit.edu 37 2 219676956 219676956 + Missense_Mutation SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:219676956A>G ENST00000258415.4 + 3 885 c.458A>G c.(457-459)cAc>cGc p.H153R NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 153 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) GAAGGACACCACTGGTACCAG 0.542000 27 27 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89847420 89847420 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:89847420G>A ENST00000370456.4 + 7 1132 c.1039G>A c.(1039-1041)Gac>Aac p.D347N GBP6_ENST00000535065.1_Missense_Mutation_p.D217N NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 347 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GCTCCCCACAGACACGCTCCA 0.567000 27 48 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54957025 54957025 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:54957025G>T ENST00000173898.7 + 12 3980 c.3868G>T c.(3868-3870)Ggt>Tgt p.G1290C TRO_ENST00000375041.2_Missense_Mutation_p.G893C|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G821C|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1290 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TGATGGCTTTGGTGGTGGACT 0.597000 22 68 1.55795e-14 2.24761e-14 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52321303 52321303 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:52321303C>A ENST00000356297.4 - 17 2981 c.2881G>T c.(2881-2883)Gcc>Tcc p.A961S PXDNL_ENST00000543296.1_Missense_Mutation_p.A961S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 961 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCTCGTTGGCCCGGTGGTCC 0.662000 5 8 0.000602214 0.000632954 1 1 0 ARHGEF18 23370 broad.mit.edu 37 19 7523433 7523433 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:7523433C>T ENST00000593531.1 + 12 1526 c.1526C>T c.(1525-1527)tCa>tTa p.S509L ARHGEF18_ENST00000359920.6_Silent_p.L551L|ARHGEF18_ENST00000319670.9_Silent_p.L393L TACAAAAGCTCATCGTGAGGG 0.542000 15 10 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327388 52327388 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:52327388T>A ENST00000339223.4 + 2 566 c.387T>A c.(385-387)caT>caA p.H129Q FPR3_ENST00000595991.1_Missense_Mutation_p.H129Q NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 129 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 GTGTCCTGCATCCAGCCTGGG 0.468000 27 39 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14591296 14591296 + Splice_Site SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:14591296C>G ENST00000393033.4 - 6 745 c.474_splice c.e6-1 p.R159_splice GIPC1_ENST00000393028.1_Splice_Site_p.R62_splice|GIPC1_ENST00000393029.3_Splice_Site_p.R62_splice|GIPC1_ENST00000586027.1_Splice_Site_p.R159_splice|GIPC1_ENST00000591349.1_Splice_Site_p.R62_splice|GIPC1_ENST00000345425.2_Splice_Site_p.R159_splice NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 159 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 CTCCTTGATGCGCTGCGGGGG 0.682000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 16 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057661 27057661 + Nonsense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:27057661C>T ENST00000324856.7 + 3 1740 c.1369C>T c.(1369-1371)Caa>Taa p.Q457* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q457*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q74* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 457 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TTATGGACAACAAGGCCCCAG 0.498000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 60 174 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200353 123200353 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:123200353C>A ENST00000528880.2 - 1 1086 c.932G>T c.(931-933)cGc>cTc p.R311L RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 311 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) CTGGAGGCAGCGGTTGATCAA 0.547000 6 41 0.000157383 0.000170154 1 1 0 ADH7 131 broad.mit.edu 37 4 100341690 100341690 + Splice_Site SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr4:100341690C>T ENST00000437033.2 - 6 1328 c.825_splice c.e6+1 p.M275_splice ADH7_ENST00000482593.1_Splice_Site_p.M218_splice|ADH7_ENST00000476959.1_Splice_Site_p.M295_splice|ADH7_ENST00000209665.4_Splice_Site_p.M287_splice P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 287 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TGGGTCTTACCATGGTTTCAA 0.383000 9 20 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123186899 123186899 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:123186899C>A ENST00000328880.5 - 1 991 c.932G>T c.(931-933)cGc>cTc p.R311L RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 311 R -> C (in dbSNP:rs7314976). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) CTGGAGGCAGCGGTTGATCAA 0.552000 15 66 4.7546e-09 5.90092e-09 1 1 0 RBPJL 11317 broad.mit.edu 37 20 43945347 43945347 + Nonsense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:43945347C>A ENST00000343694.3 + 12 1374 c.1302C>A c.(1300-1302)tgC>tgA p.C434* RBPJL_ENST00000372743.1_Nonsense_Mutation_p.C433*|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.R438S NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 434 IPT/TIG. signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CCCTGGTGTGCGTGGTGCCGG 0.731000 4 4 1 1 1 1 0 ZNF497 162968 broad.mit.edu 37 19 58868531 58868531 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:58868531G>T ENST00000311044.3 - 3 659 c.471C>A c.(469-471)agC>agA p.S157R ZNF497_ENST00000425453.3_Missense_Mutation_p.S157R|CTD-2619J13.8_ENST00000599109.1_RNA NM_198458.2 NP_940860.2 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) GCTTCTCGCCGCTGTGGATGC 0.672000 9 14 2.17888e-05 2.41328e-05 1 1 0 KRT38 8687 broad.mit.edu 37 17 39597093 39597093 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:39597093G>T ENST00000246646.3 - 1 80 c.81C>A c.(79-81)ccC>ccA p.P27P NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 27 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CAATGTCGATGGGAGAGACAG 0.597000 22 44 3.62473e-10 4.63843e-10 1 1 0 SLC35G2 80723 broad.mit.edu 37 3 136573684 136573684 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:136573684C>T ENST00000446465.2 + 2 1010 c.382C>T c.(382-384)Cgg>Tgg p.R128W SLC35G2_ENST00000393079.3_Missense_Mutation_p.R128W|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 128 DUF6 1. Golgi apparatus|integral to membrane TGTTTCTGATCGGTCTAAAGT 0.403000 59 152 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11780549 11780549 + Missense_Mutation SNP C C A rs142935587 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:11780549C>A ENST00000381486.2 + 33 6119 c.5819C>A c.(5818-5820)cCg>cAg p.P1940Q GREB1_ENST00000396123.1_Missense_Mutation_p.P938Q|GREB1_ENST00000234142.5_Missense_Mutation_p.P1940Q NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1940 integral to membrane p.P1940L(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GAAGACCGGCCGCTCTTTTTT 0.597000 37 76 9.45814e-24 1.64159e-23 1 1 0 PIKFYVE 200576 broad.mit.edu 37 2 209212620 209212620 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:209212620G>T ENST00000264380.4 + 35 5405 c.5247G>T c.(5245-5247)ggG>ggT p.G1749G NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1749 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TCTTCAGAGGGACAGCAGGGA 0.433000 20 13 2.94398e-08 3.56584e-08 1 1 0 SERPINA13P 388007 broad.mit.edu 37 14 95108233 95108233 + RNA SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr14:95108233C>G ENST00000469935.1 + 0 838 NR_015340.1 ACATGCTCCTCAGAGGTAAGA 0.562000 28 31 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123164822 123164822 + Translation_Start_Site SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:123164822A>T ENST00000354548.5 + 0 277 STAG2_ENST00000371160.1_Missense_Mutation_p.K45N|STAG2_ENST00000371144.3_Missense_Mutation_p.K45N|STAG2_ENST00000371145.3_Missense_Mutation_p.K45N|STAG2_ENST00000371157.3_Missense_Mutation_p.K45N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.K45N Q8N3U4 STAG2_HUMAN stromal antigen 2 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CTTGTAAAAAAGGCAAAAAGG 0.423000 21 70 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19544055 19544055 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:19544055C>A ENST00000507958.1 - 11 2303 c.1313G>T c.(1312-1314)gGg>gTg p.G438V CDH18_ENST00000382275.1_Missense_Mutation_p.G438V|CDH18_ENST00000502796.1_Missense_Mutation_p.G438V|CDH18_ENST00000506372.1_Missense_Mutation_p.G438V|CDH18_ENST00000511273.1_Missense_Mutation_p.G438V|CDH18_ENST00000274170.4_Missense_Mutation_p.G438V Q13634 CAD18_HUMAN cadherin 18, type 2 438 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G438A(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCTAATGGTCCCAGTATTGGC 0.353000 18 113 5.01169e-05 5.51043e-05 1 1 0 POTEF 728378 broad.mit.edu 37 2 130832386 130832386 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:130832386C>A ENST00000357462.5 - 15 2752 c.2659G>T c.(2659-2661)Gac>Tac p.D887Y POTEF_ENST00000409914.2_Missense_Mutation_p.D887Y A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 887 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ATGAGGTAGTCAGGCAGTTCC 0.592000 7 18 5.18039e-06 5.85216e-06 1 1 0 CDH23 64072 broad.mit.edu 37 10 73553142 73553142 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:73553142C>A ENST00000224721.6 + 47 6477 c.6472C>A c.(6472-6474)Cct>Act p.P2158T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2153 Cadherin 20. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGGCACCGTTCCTCTCTCGGG 0.597000 20 45 4.35082e-09 5.42953e-09 1 1 0 CADM3 57863 broad.mit.edu 37 1 159163344 159163344 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:159163344C>T ENST00000368125.4 + 4 671 c.514C>T c.(514-516)Ctc>Ttc p.L172F CADM3_ENST00000368124.4_Missense_Mutation_p.L206F NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 172 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TGACCAAGAACTCCACGGTGA 0.527000 12 39 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228482556 228482556 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:228482556A>T ENST00000570156.2 + 48 12832 c.12758A>T c.(12757-12759)gAg>gTg p.E4253V OBSCN_ENST00000366709.4_Missense_Mutation_p.E943V|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2671V|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3824V|OBSCN_ENST00000366707.4_Missense_Mutation_p.E943V|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3824V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3296 Ig-like 44. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGCAATGTGAGCTGAGCAAG 0.592000 54 113 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141707867 141707867 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:141707867A>T ENST00000389484.3 - 20 4044 c.3073T>A c.(3073-3075)Tgt>Agt p.C1025S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1025 LDL-receptor class A 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCACCATCACAGGCCCAGTGG 0.443000 TSP Lung(27;0.18) 13 40 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206738 49206738 + Silent SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:49206738G>C ENST00000425340.2 + 2 642 c.525G>C c.(523-525)cgG>cgC p.R175R FUT2_ENST00000391876.4_Silent_p.R175R NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 175 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) ACCACGTGCGGGAGGAGGCCC 0.652000 4 36 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92185712 92185712 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:92185712G>A ENST00000212355.4 - 9 1616 c.1151C>T c.(1150-1152)cCt>cTt p.P384L TGFBR3_ENST00000370399.2_Missense_Mutation_p.P383L|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P384L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 384 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CTGCAGGGCAGGCAGGGCACC 0.557000 10 34 0 0 1 0 0 VSNL1 7447 broad.mit.edu 37 2 17773430 17773430 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:17773430G>T ENST00000406397.1 + 2 614 c.89G>T c.(88-90)tGg>tTg p.W30L VSNL1_ENST00000295156.4_Missense_Mutation_p.W30L|VSNL1_ENST00000404666.2_Missense_Mutation_p.W30L P62760 VISL1_HUMAN visinin-like 1 30 EF-hand 1. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTCAAGCAGTGGTACAAAGGA 0.453000 36 98 1.836e-18 2.95982e-18 1 1 0 MROH2B 133558 broad.mit.edu 37 5 41005653 41005653 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:41005653C>A ENST00000399564.4 - 35 4294 c.3844G>T c.(3844-3846)Ggc>Tgc p.G1282C MROH2B_ENST00000506092.2_Missense_Mutation_p.G837C NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AAAGCTGCGCCGGTTATCCGG 0.542000 3 24 0.115264 0.116291 1 1 0 LRRC16A 55604 broad.mit.edu 37 6 25517621 25517621 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:25517621G>T ENST00000329474.6 + 22 2220 c.1852G>T c.(1852-1854)Gat>Tat p.D618Y NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 618 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 AGGCTTTCAGGATATAGCTGT 0.318000 21 33 7.87624e-14 1.12909e-13 1 1 0 CARD18 59082 broad.mit.edu 37 11 105009615 105009615 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:105009615G>T ENST00000530950.1 - 2 197 c.198C>A c.(196-198)ccC>ccA p.P66P CARD18_ENST00000526823.1_Silent_p.P27P|CARD18_ENST00000532895.1_Silent_p.P27P NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 66 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 AGCAAGACTTGGGTCCTTTTC 0.413000 47 120 3.77016e-25 6.77731e-25 1 1 0 RASEF 158158 broad.mit.edu 37 9 85637336 85637336 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:85637336T>A ENST00000376447.3 - 3 844 c.584A>T c.(583-585)cAg>cTg p.Q195L NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 195 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TGCCTTGTCCTGGGCTCTGAA 0.413000 30 59 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38109218 38109218 + Splice_Site SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr22:38109218G>A ENST00000406386.3 + 5 511 c.254_splice c.e5-1 p.G86_splice RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 86 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTCTCCCAGGGGCCCATCCCC 0.642000 8 8 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132473342 132473342 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:132473342C>A ENST00000370828.3 - 2 712 c.188G>T c.(187-189)gGt>gTt p.G63V GPC4_ENST00000535467.1_5'UTR NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 63 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GCAGGTAGAACCCTGGGGACA 0.418000 21 53 7.45023e-12 1.00147e-11 1 1 0 LRFN5 145581 broad.mit.edu 37 14 42360832 42360832 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr14:42360832G>A ENST00000298119.4 + 4 2954 c.1765G>A c.(1765-1767)Gtg>Atg p.V589M LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 589 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GCCCCAGTCCGTGTCCAAACA 0.463000 HNSCC(30;0.082) 18 68 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218747119 218747119 + Missense_Mutation SNP T T G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:218747119T>G ENST00000171887.4 - 15 1339 c.887A>C c.(886-888)gAg>gCg p.E296A TNS1_ENST00000419504.1_Missense_Mutation_p.E296A|TNS1_ENST00000430930.1_Missense_Mutation_p.E296A|TNS1_ENST00000310858.6_Missense_Mutation_p.E327A NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 296 C2 tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TTTGCCATACTCTGGAAATCG 0.333000 17 17 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120354547 120354547 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:120354547C>A ENST00000239032.2 - 2 348 c.210G>T c.(208-210)gtG>gtT p.V70V PRLHR_ENST00000369169.1_Silent_p.V70V NM_004248.2 NP_004239.1 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 70 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) CCACGACCACCACGACGCTGT 0.672000 21 62 4.35082e-09 5.42953e-09 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77763469 77763469 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:77763469C>G ENST00000521891.2 + 10 4760 c.4312C>G c.(4312-4314)Cag>Gag p.Q1438E ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1393E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1412E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1393E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1393 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCGTACATTCCAGGCTTTAAA 0.483000 HNSCC(33;0.089) 28 19 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114469662 114469662 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:114469662C>A ENST00000513154.1 - 8 1719 c.1393G>T c.(1393-1395)Gac>Tac p.D465Y TRIM36_ENST00000514154.1_Missense_Mutation_p.D322Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.D477Y Q9NQ86 TRI36_HUMAN tripartite motif containing 36 477 Fibronectin type-III. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) TTTTCCAAGTCTTGAATTATT 0.368000 24 25 1.64293e-13 2.33307e-13 1 1 0 RPGR 6103 broad.mit.edu 37 X 38145170 38145170 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:38145170C>G ENST00000378505.2 - 15 3258 c.3082G>C c.(3082-3084)Gag>Cag p.E1028Q TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000338898.3_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 818 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 tctccttcctccccttccacc 0.557000 4 8 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34118542 34118542 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:34118542G>T ENST00000297161.2 + 13 1526 c.1152G>T c.(1150-1152)ggG>ggT p.G384G BMPER_ENST00000426693.1_Silent_p.G384G NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 384 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ACTTTCAGGGGACGTGTCAGT 0.572000 30 159 1.88708e-17 2.96823e-17 1 1 0 ATXN7L2 127002 broad.mit.edu 37 1 110028744 110028744 + Splice_Site SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:110028744G>T ENST00000369870.3 + 2 208 c.193_splice c.e2+1 p.D65_splice NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 65 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CATTAAAGAAGGTGGGAGTCG 0.552000 20 37 1.56452e-12 2.15419e-12 1 1 0 C1D 10438 broad.mit.edu 37 2 68270044 68270044 + Missense_Mutation SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:68270044T>C ENST00000355848.3 - 5 450 c.403A>G c.(403-405)Aat>Gat p.N135D C1D_ENST00000410067.3_Missense_Mutation_p.N135D|C1D_ENST00000409302.1_Missense_Mutation_p.N135D|C1D_ENST00000407324.1_Missense_Mutation_p.N174D Q13901 C1D_HUMAN C1D nuclear receptor corepressor 135 Interaction with NCOR1 and NCOR2 (By similarity). apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear exosome (RNase complex)|nucleolus DNA binding|RNA binding lung(2)|urinary_tract(1) 3 TTTCCTTTATTGGCAACTTTT 0.413000 11 14 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55340429 55340429 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:55340429G>C ENST00000314634.3 + 1 826 c.826G>C c.(826-828)Gga>Cga p.G276R NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TTATACAGTTGGAACATCTTT 0.393000 24 33 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119185742 119185742 + Silent SNP C C T rs147146316 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:119185742C>T ENST00000264036.4 - 3 215 c.201G>A c.(199-201)aaG>aaA p.K67K MCAM_ENST00000530144.2_5'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 67 Ig-like V-type 1. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) TCCGCTTCTCCTTGTGGACCT 0.647000 5 63 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157522229 157522229 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:157522229G>T ENST00000346085.5 + 18 4502 c.4501G>T c.(4501-4503)Gta>Tta p.V1501L ARID1B_ENST00000275248.4_Missense_Mutation_p.V1483L|ARID1B_ENST00000350026.5_Missense_Mutation_p.V1488L|ARID1B_ENST00000367148.1_Missense_Mutation_p.V1541L NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1488 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CGATATGATGGTACCCGATCA 0.572000 40 40 1.07121e-22 1.8381e-22 1 1 0 AGMO 392636 broad.mit.edu 37 7 15599877 15599877 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:15599877G>T ENST00000342526.3 - 2 315 c.146C>A c.(145-147)tCt>tAt p.S49Y NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 49 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CAGCATCAAAGAAATGAAAAA 0.393000 45 47 2.47872e-24 4.36911e-24 1 1 0 RNF219 79596 broad.mit.edu 37 13 79191136 79191136 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr13:79191136C>G ENST00000282003.6 - 6 818 c.760G>C c.(760-762)Gtt>Ctt p.V254L RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 254 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) AGCTGTGCAACTTGAGATTCT 0.428000 26 35 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60587908 60587908 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:60587908T>A ENST00000252996.3 - 3 1603 c.1604A>T c.(1603-1605)cAg>cTg p.Q535L NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 535 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TGCACTGGGCTGCACCGTTGT 0.572000 51 56 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241666333 241666333 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:241666333C>A ENST00000498729.2 - 39 4278 c.4032G>T c.(4030-4032)gcG>gcT p.A1344A KIF1A_ENST00000320389.7_Silent_p.A1243A NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1243 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AGCTGTCCCACGCAGCCTCAA 0.537000 3 4 0.115264 0.116291 1 1 0 DST 667 broad.mit.edu 37 6 56422281 56422281 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:56422281C>T ENST00000370754.5 - 59 14382 c.14383G>A c.(14383-14385)Gat>Aat p.D4795N DST_ENST00000370769.4_Missense_Mutation_p.D4617N|DST_ENST00000361203.3_Missense_Mutation_p.D4615N|DST_ENST00000421834.2_Missense_Mutation_p.D2529N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.D2529N|DST_ENST00000244364.6_Missense_Mutation_p.D2203N|DST_ENST00000446842.2_Missense_Mutation_p.D4291N Q03001 DYST_HUMAN dystonin 4615 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) TGTTGTCTATCAATTGTTAAT 0.343000 12 37 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36137401 36137401 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:36137401C>A ENST00000296603.4 - 5 973 c.511G>T c.(511-513)Gta>Tta p.V171L NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 171 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTGGGTTTACAGCTACATAA 0.289000 60 42 5.7761e-15 8.60715e-15 1 1 0 ZNF335 63925 broad.mit.edu 37 20 44598228 44598228 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:44598228C>A ENST00000322927.2 - 3 404 c.304G>T c.(304-306)Ggt>Tgt p.G102C ZNF335_ENST00000426788.1_Intron NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GCTGGGGGACCGCCTGTCACC 0.612000 OREG0025987 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 24 3.1745e-13 4.46598e-13 1 1 0 SYNE2 23224 broad.mit.edu 37 14 64434478 64434478 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr14:64434478G>T ENST00000358025.3 + 11 1272 c.1042G>T c.(1042-1044)Gat>Tat p.D348Y SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.D348Y|SYNE2_ENST00000554584.1_Missense_Mutation_p.D348Y NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 348 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTCCTTTTTGGATGTCCTGTC 0.393000 24 56 1.1804e-14 1.7361e-14 1 1 0 RPH3A 22895 broad.mit.edu 37 12 113319606 113319606 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:113319606G>T ENST00000389385.4 + 15 1778 c.1281G>T c.(1279-1281)ttG>ttT p.L427F RPH3A_ENST00000420983.2_Missense_Mutation_p.L427F|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.L427F|RPH3A_ENST00000447659.2_Missense_Mutation_p.L378F|RPH3A_ENST00000415485.3_Missense_Mutation_p.L427F|RPH3A_ENST00000548866.1_Missense_Mutation_p.L378F|RPH3A_ENST00000551052.1_Missense_Mutation_p.L423F NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 427 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CAAACGGCTTGGCTGATCCCT 0.607000 27 66 3.65163e-15 5.55097e-15 1 1 0 CEP78 84131 broad.mit.edu 37 9 80869758 80869758 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:80869758G>T ENST00000424347.2 + 11 1547 c.1258G>T c.(1258-1260)Ggt>Tgt p.G420C CEP78_ENST00000487108.2_Splice_Site|CEP78_ENST00000376598.2_Missense_Mutation_p.G420C|CEP78_ENST00000415759.2_Missense_Mutation_p.G421C|CEP78_ENST00000376597.4_Missense_Mutation_p.G421C|CEP78_ENST00000277082.5_Missense_Mutation_p.G420C Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 420 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 TAAGCAACCAGGTTTTCCTGT 0.363000 21 33 2.37509e-13 3.36224e-13 1 1 0 ITGAX 3687 broad.mit.edu 37 16 31383808 31383808 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:31383808C>A ENST00000268296.4 + 18 2391 c.2270C>A c.(2269-2271)gCt>gAt p.A757D ITGAX_ENST00000562522.1_Missense_Mutation_p.A757D NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 757 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GCCGCCGATGCTCAGAGATAC 0.622000 16 27 2.23348e-06 2.55497e-06 1 1 0 BCHE 590 broad.mit.edu 37 3 165548395 165548395 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:165548395C>A ENST00000264381.3 - 2 593 c.427G>T c.(427-429)Ggt>Tgt p.G143C BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 143 G -> D (in BChE deficiency). choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AAACCACCACCATAAATCCAT 0.383000 19 64 4.96729e-08 5.96865e-08 1 1 0 ST18 9705 broad.mit.edu 37 8 53085061 53085061 + Silent SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:53085061A>T ENST00000276480.7 - 10 1043 c.360T>A c.(358-360)tcT>tcA p.S120S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 120 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTTGATAACAAGAGTATCTGT 0.353000 5 78 0 0 1 0 0 FMR1 2332 broad.mit.edu 37 X 147007065 147007065 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:147007065C>A ENST00000218200.8 + 3 341 c.112C>A c.(112-114)Cct>Act p.P38T FMR1_ENST00000370470.1_Missense_Mutation_p.P38T|FMR1_ENST00000370475.4_Missense_Mutation_p.P38T|FMR1_ENST00000334557.6_Missense_Mutation_p.P38T|FMR1_ENST00000370477.1_Missense_Mutation_p.P38T|FMR1_ENST00000439526.2_Missense_Mutation_p.P38T|FMR1_ENST00000370471.3_Missense_Mutation_p.P38T NM_001185076.1|NM_001185082.1 NP_001172005.1|NP_001172011.1 Q06787 FMR1_HUMAN fragile X mental retardation 1 38 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) CAGCTGGCAGCCTGATAGGCA 0.368000 Fragile X syndrome 23 66 5.35047e-06 6.02926e-06 1 1 0 ARMC5 79798 broad.mit.edu 37 16 31470938 31470938 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:31470938G>T ENST00000457010.2 + 1 794 c.93G>T c.(91-93)aaG>aaT p.K31N RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000563544.1_Missense_Mutation_p.K31N|ARMC5_ENST00000408912.3_Missense_Mutation_p.K126N|ARMC5_ENST00000538189.1_Missense_Mutation_p.K63N|ARMC5_ENST00000268314.4_Missense_Mutation_p.K31N NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 31 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GTGGGGAAAAGGACCCAGCGA 0.711000 4 18 1.024e-07 1.22717e-07 1 1 0 TENM2 57451 broad.mit.edu 37 5 167379631 167379631 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:167379631C>A ENST00000519204.1 + 3 506 c.388C>A c.(388-390)Cct>Act p.P130T TENM2_ENST00000520394.1_Missense_Mutation_p.P60T|TENM2_ENST00000518659.1_Missense_Mutation_p.P251T|TENM2_ENST00000545108.1_Missense_Mutation_p.P251T|TENM2_ENST00000403607.2_Missense_Mutation_p.P84T|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR teneurin transmembrane protein 2 TCTGAGGCCCCCTCTCCCACC 0.567000 14 8 7.93312e-07 9.16761e-07 1 1 0 CCDC91 55297 broad.mit.edu 37 12 28458614 28458614 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:28458614G>T ENST00000545336.1 + 7 561 c.142G>T c.(142-144)Gag>Tag p.E48* CCDC91_ENST00000381259.1_Nonsense_Mutation_p.E48*|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.E48*|CCDC91_ENST00000381256.1_Nonsense_Mutation_p.E48*|CCDC91_ENST00000306172.5_Nonsense_Mutation_p.E18*|CCDC91_ENST00000540401.1_3'UTR Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 48 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) ATCTTCTCCTGAGATTGTACT 0.403000 62 168 6.26901e-30 1.1735e-29 1 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140718615 140718615 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:140718615C>T ENST00000394576.2 + 1 77 c.77C>T c.(76-78)gCc>gTc p.A26V PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTGGGAGGCCAGGGCCGGG 0.582000 OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 30 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67148047 67148047 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:67148047C>A ENST00000371037.4 + 15 1387 c.1310C>A c.(1309-1311)aCc>aAc p.T437N SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.T441N NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 437 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CCGGGGACCACCAGTGGTATG 0.622000 74 169 2.41437e-24 4.2723e-24 1 1 0 CYP4F24P 388514 broad.mit.edu 37 19 15882967 15882967 + RNA SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:15882967C>G ENST00000587443.2 - 0 710 NR_033864.1 TGCCACTTGTCCTGGCCAGAG 0.577000 13 19 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98848691 98848691 + RNA SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:98848691C>A ENST00000554295.1 - 0 2232 NR_033801.1 AGGCGGGTACCCTGGCTCGAA 0.562000 3 11 0.004672 0.00482099 1 1 0 NRK 203447 broad.mit.edu 37 X 105142675 105142675 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:105142675G>A ENST00000428173.2 + 8 982 c.679G>A c.(679-681)Gat>Aat p.D227N NRK_ENST00000243300.9_Missense_Mutation_p.D227N Q7Z2Y5 NRK_HUMAN Nik related kinase 227 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GATTGACTGTGATGAGGACCC 0.408000 HNSCC(51;0.14) 4 13 0 0 1 0 0 FAM188A 80013 broad.mit.edu 37 10 15875667 15875667 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:15875667G>A ENST00000277632.3 - 8 912 c.692C>T c.(691-693)tCt>tTt p.S231F FAM188A_ENST00000477891.1_5'UTR NM_024948.2 NP_079224.1 Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 231 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 CCATACATTAGAAACAGCATG 0.313000 25 47 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44201894 44201894 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:44201894G>A ENST00000260665.7 - 8 925 c.868C>T c.(868-870)Ctg>Ttg p.L290L LRPPRC_ENST00000409946.1_Silent_p.L290L|LRPPRC_ENST00000409659.1_Silent_p.L290L NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 290 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACCTTCTCCAGAGTCTATAGA 0.348000 9 43 0 0 1 0 0 KCNIP3 30818 broad.mit.edu 37 2 96040128 96040128 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:96040128C>G ENST00000295225.5 + 3 401 c.266C>G c.(265-267)aCc>aGc p.T89S KCNIP3_ENST00000468529.1_Missense_Mutation_p.T63S|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Missense_Mutation_p.T89S NM_013434.4 NP_038462.1 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3, calsenilin 89 EF-hand 1; degenerate. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) ACCAAGTTCACCAAGAAGGAG 0.612000 7 27 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5461869 5461869 + Missense_Mutation SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:5461869A>G ENST00000345221.3 - 4 2701 c.2147T>C c.(2146-2148)cTg>cCg p.L716P NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.L716P|NLRP1_ENST00000354411.3_Missense_Mutation_p.L716P|NLRP1_ENST00000577119.1_Missense_Mutation_p.L716P|NLRP1_ENST00000269280.4_Missense_Mutation_p.L716P|NLRP1_ENST00000572272.1_Missense_Mutation_p.L716P NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 716 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GAGGGACTCCAGAGAGTGTGG 0.542000 40 87 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20043802 20043802 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:20043802C>A ENST00000379651.3 - 8 1171 c.1153G>T c.(1153-1155)Gca>Tca p.A385S MAP7D2_ENST00000543767.1_Missense_Mutation_p.A270S|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Missense_Mutation_p.A333S|MAP7D2_ENST00000443379.3_Missense_Mutation_p.A340S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.A426S NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 385 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 CATCTACCTGCGCTGTTTTCG 0.567000 65 56 2.50483e-33 4.72786e-33 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885796 88885796 + Missense_Mutation SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:88885796A>G ENST00000319675.3 - 1 500 c.404T>C c.(403-405)cTg>cCg p.L135P NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 135 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CAAGTGATTCAGTGAGGCCCA 0.557000 33 87 0 0 1 0 0 CABP1 9478 broad.mit.edu 37 12 121093846 121093846 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:121093846G>A ENST00000453000.1 + 1 745 c.233G>A c.(232-234)aGg>aAg p.R78K CABP1_ENST00000288616.3_Intron|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron Q9NZU7 CABP1_HUMAN calcium binding protein 1 20 Poly-Ala. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGGCTGGGCAGGGAGGTGACA 0.622000 4 14 0 0 1 0 0 SYNC 81493 broad.mit.edu 37 1 33160497 33160497 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:33160497T>A ENST00000373484.3 - 2 1301 c.1202A>T c.(1201-1203)cAa>cTa p.Q401L SYNC_ENST00000409190.3_Missense_Mutation_p.Q401L NM_001161708.1 NP_001155180.1 Q9H7C4 SYNCI_HUMAN syncoilin, intermediate filament protein 401 Coil 2. intermediate filament|perinuclear region of cytoplasm structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 ATCTCGTTTTTGCCTCACAAG 0.547000 123 271 0 0 1 0 0 KCTD10 83892 broad.mit.edu 37 12 109893952 109893952 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:109893952C>T ENST00000228495.6 - 6 975 c.694G>A c.(694-696)Gtc>Atc p.V232I KCTD10_ENST00000540089.1_Missense_Mutation_p.V51I|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.V51I|KCTD10_ENST00000540411.1_Missense_Mutation_p.V206I NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 232 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 GTGGCATAGACGATGGAGGTA 0.468000 4 57 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763349 77763349 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:77763349C>A ENST00000521891.2 + 10 4640 c.4192C>A c.(4192-4194)Cgc>Agc p.R1398S ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1353S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1372S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1353S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1353 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R1398C(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTACAAGTATCGCTGTAACCA 0.438000 HNSCC(33;0.089) 39 31 6.70999e-13 9.324e-13 1 1 0 KHDRBS2 202559 broad.mit.edu 37 6 62688014 62688014 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:62688014C>A ENST00000281156.4 - 4 718 c.440G>T c.(439-441)cGt>cTt p.R147L NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) ATGACTCATACGTGAATAAGC 0.373000 20 59 1.01871e-10 1.3185e-10 1 1 0 MMP16 4325 broad.mit.edu 37 8 89209503 89209503 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:89209503C>A ENST00000286614.6 - 2 446 c.165G>T c.(163-165)ccG>ccT p.P55P MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 55 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TGGGGTCAGTCGGTGGAAGGT 0.418000 14 31 6.72482e-11 8.77909e-11 1 1 0 LMOD2 442721 broad.mit.edu 37 7 123302237 123302237 + Silent SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:123302237T>A ENST00000458573.2 + 2 754 c.597T>A c.(595-597)atT>atA p.I199I LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 199 cytoskeleton actin binding|tropomyosin binding CTACAGTGATTGAGGACGCTT 0.433000 16 14 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95077288 95077288 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:95077288C>T ENST00000545558.1 - 7 2111 c.1619G>A c.(1618-1620)cGt>cAt p.R540H NOL8_ENST00000358855.4_Missense_Mutation_p.R472H|NOL8_ENST00000535387.1_Missense_Mutation_p.R540H|NOL8_ENST00000542053.1_Missense_Mutation_p.R472H|NOL8_ENST00000442668.2_Missense_Mutation_p.R540H Q76FK4 NOL8_HUMAN nucleolar protein 8 540 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 CTCCGCAGGACGAATACACTG 0.502000 14 50 0 0 1 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17363074 17363074 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:17363074G>A ENST00000377602.4 - 8 1074 c.1000C>T c.(1000-1002)Ctg>Ttg p.L334L NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 334 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 TTTTTACACAGTTCCACTGCA 0.443000 70 168 0 0 1 0 0 SMYD2 56950 broad.mit.edu 37 1 214491480 214491480 + Nonsense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:214491480C>G ENST00000366957.5 + 4 429 c.407C>G c.(406-408)tCa>tGa p.S136* SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Nonsense_Mutation_p.S136* NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 136 SET. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) GAGTTTGAATCACGTAAGTCT 0.458000 52 25 0 0 1 0 0 TMEM170B 100113407 broad.mit.edu 37 6 11575731 11575731 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:11575731G>T ENST00000379426.1 + 3 336 c.336G>T c.(334-336)tgG>tgT p.W112C TMEM170B_ENST00000543875.1_Missense_Mutation_p.W112C NM_001100829.1 NP_001094299.1 Q5T4T1 T170B_HUMAN transmembrane protein 170B 112 integral to membrane large_intestine(3)|lung(5) 8 CGCTGGTATGGGGCGTTGGAC 0.473000 38 87 4.14481e-20 6.87765e-20 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38109219 38109219 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr22:38109219G>T ENST00000406386.3 + 5 512 c.257G>T c.(256-258)gGc>gTc p.G86V RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 86 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TCTCCCAGGGGCCCATCCCCC 0.647000 8 8 0.000157383 0.000170154 1 1 0 APOB 338 broad.mit.edu 37 2 21229594 21229594 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:21229594C>A ENST00000233242.1 - 26 10273 c.10146G>T c.(10144-10146)gaG>gaT p.E3382D NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3382 LDL receptor binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGTGGTGCCCTCTAATTTGT 0.413000 51 111 6.31075e-24 1.10805e-23 1 1 0 CPSF1 29894 broad.mit.edu 37 8 145625643 145625643 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:145625643G>A ENST00000349769.3 - 9 948 c.854C>T c.(853-855)tCg>tTg p.S285L NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 285 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GTACAACAGCGAGTTGACGGC 0.622000 12 24 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324136 31324136 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr18:31324136G>C ENST00000269197.5 + 12 4324 c.4324G>C c.(4324-4326)Ggg>Cgg p.G1442R NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CAAAAATTCAGGGCCTCGAAA 0.468000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 70 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502819 20502819 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr14:20502819C>A ENST00000315693.2 - 1 100 c.99G>T c.(97-99)gtG>gtT p.V33V NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CCACGAAGACCACAGAGAATC 0.403000 16 48 6.72482e-11 8.77909e-11 1 1 0 TRPC4AP 26133 broad.mit.edu 37 20 33592273 33592273 + Silent SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:33592273C>T ENST00000252015.2 - 17 2126 c.2037G>A c.(2035-2037)caG>caA p.Q679Q TRPC4AP_ENST00000432634.2_Silent_p.Q640Q|TRPC4AP_ENST00000539834.1_Silent_p.Q281Q|TRPC4AP_ENST00000451813.1_Silent_p.Q671Q Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 679 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GGGTCAGCGTCTGCACGTGGA 0.592000 7 3 0 0 1 0 0 RBM4 5936 broad.mit.edu 37 11 66411601 66411601 + Nonstop_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:66411601T>A ENST00000409406.1 + 2 1870 c.1093T>A c.(1093-1095)Taa>Aaa p.*365K RBM4_ENST00000514361.3_Nonstop_Mutation_p.*340K|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Nonstop_Mutation_p.*365K|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_Nonstop_Mutation_p.*365K|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Nonstop_Mutation_p.*365K|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Nonstop_Mutation_p.*340K RNA binding motif protein 4 endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) CTCAGCCTTTTAAAGCTTGAG 0.577000 16 38 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40037050 40037050 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr22:40037050C>G ENST00000336649.4 + 8 919 c.919C>G c.(919-921)Cgc>Ggc p.R307G CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307G|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R307G|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307G|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307G|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307G Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 307 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TGGGGCGGGGCGCCAGGACCT 0.617000 13 22 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70080013 70080013 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr4:70080013G>T ENST00000446444.1 - 1 436 c.428C>A c.(427-429)tCa>tAa p.S143* RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 143 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GTCAAATCTTGACTCTTGTAG 0.373000 51 43 8.04919e-23 1.38642e-22 1 1 0 TRBV3-1 28619 broad.mit.edu 37 7 142008772 142008772 + RNA SNP G G T rs139140743 by1000genomes TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:142008772G>T ENST00000390387.3 + 0 292 GTTCCAAATCGCTTCTCACCT 0.378000 74 48 1.26778e-28 2.33457e-28 1 1 0 NXF3 56000 broad.mit.edu 37 X 102338170 102338170 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:102338170G>T ENST00000395065.3 - 6 673 c.572C>A c.(571-573)cCc>cAc p.P191H NXF3_ENST00000425463.2_Missense_Mutation_p.P102H|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 191 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CACAAAGTGGGGTATGCCAGC 0.488000 30 68 7.01153e-11 9.12708e-11 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144940912 144940912 + Silent SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:144940912T>C ENST00000525985.1 - 2 6581 c.6510A>G c.(6508-6510)aaA>aaG p.K2170K P58107 EPIPL_HUMAN epiplakin 1 2170 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCACAGGTGTTTGTTGCTGG 0.517000 41 150 0 0 1 0 0 PRR15L 79170 broad.mit.edu 37 17 46030566 46030566 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:46030566A>T ENST00000300557.2 - 2 285 c.35T>A c.(34-36)tTc>tAc p.F12Y RP11-6N17.9_ENST00000582262.1_RNA NM_024320.3 NP_077296.1 Q9BU68 PR15L_HUMAN proline rich 15-like 12 NS(1)|cervix(1)|ovary(1)|pancreas(1) 4 TTTCCGGAGGAAAGTCAGCTT 0.557000 35 75 0 0 1 0 0 TMEM87B 84910 broad.mit.edu 37 2 112849289 112849289 + Splice_Site SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:112849289G>T ENST00000283206.4 + 11 1402 c.1032_splice c.e11-1 p.G345_splice TMEM87B_ENST00000463427.1_3'UTR NM_032824.2 NP_116213.1 Q96K49 TM87B_HUMAN transmembrane protein 87B 345 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 TATCTTTCAGGGTTCTAACCA 0.303000 7 23 5.18039e-06 5.85216e-06 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140167622 140167622 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:140167622C>A ENST00000504120.2 + 1 1747 c.1747C>A c.(1747-1749)Cga>Aga p.R583R PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.R583R NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGTGCCGCGATTGGTGGG 0.662000 32 32 2.68265e-12 3.66036e-12 1 1 0 TENM2 57451 broad.mit.edu 37 5 167379632 167379632 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:167379632C>A ENST00000519204.1 + 3 507 c.389C>A c.(388-390)cCt>cAt p.P130H TENM2_ENST00000520394.1_Missense_Mutation_p.P60H|TENM2_ENST00000518659.1_Missense_Mutation_p.P251H|TENM2_ENST00000545108.1_Missense_Mutation_p.P251H|TENM2_ENST00000403607.2_Missense_Mutation_p.P84H|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR teneurin transmembrane protein 2 CTGAGGCCCCCTCTCCCACCC 0.572000 13 7 4.3838e-07 5.1182e-07 1 1 0 TMEM132B 114795 broad.mit.edu 37 12 125834188 125834188 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:125834188C>A ENST00000299308.3 + 2 251 c.243C>A c.(241-243)ccC>ccA p.P81P TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 81 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCAGGACACCCCCTATTATCA 0.498000 53 107 1.42923e-14 2.07513e-14 1 1 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862905 10862905 + RNA SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:10862905G>T ENST00000559480.1 + 0 201 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TTGAGTGGATGGGATTGGTGT 0.552000 23 284 3.90053e-15 5.8898e-15 1 1 0 RBP2 5948 broad.mit.edu 37 3 139180975 139180975 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:139180975G>C ENST00000232217.2 - 2 287 c.231C>G c.(229-231)agC>agG p.S77R RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 77 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) GGTTATCCAGGCTCTTTGTGT 0.428000 32 55 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100327860 100327860 + Missense_Mutation SNP G G T rs150146360 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:100327860G>T ENST00000294724.4 + 4 819 c.341G>T c.(340-342)cGt>cTt p.R114L AGL_ENST00000361302.3_Missense_Mutation_p.R98L|AGL_ENST00000370161.2_Missense_Mutation_p.R98L|AGL_ENST00000361522.4_Missense_Mutation_p.R97L|AGL_ENST00000370163.3_Missense_Mutation_p.R114L|AGL_ENST00000361915.3_Missense_Mutation_p.R114L|AGL_ENST00000370165.3_Missense_Mutation_p.R114L NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 114 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CCCATTTTACGTGTTGGTGCT 0.378000 49 145 3.68337e-26 6.70108e-26 1 1 0 HECW1 23072 broad.mit.edu 37 7 43484469 43484469 + Silent SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:43484469G>C ENST00000395891.1 + 11 2303 c.1698G>C c.(1696-1698)ctG>ctC p.L566L HECW1_ENST00000453890.1_Silent_p.L566L NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 566 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TCCACACCCTGCTGCACAGCA 0.697000 18 78 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3936274 3936274 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:3936274A>T ENST00000381638.2 - 41 6731 c.6607T>A c.(6607-6609)Tgc>Agc p.C2203S NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2203 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GCCATGGAGCACGCCCAGTCC 0.577000 3 4 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45004682 45004682 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:45004682C>A ENST00000258787.7 - 18 2524 c.2388G>T c.(2386-2388)cgG>cgT p.R796R NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 796 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GCTGCCGGGCCCGCCACCTGG 0.642000 56 52 4.96213e-28 9.10059e-28 1 1 0 NXPE1 120400 broad.mit.edu 37 11 114393049 114393049 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:114393049C>A ENST00000536271.1 - 4 1676 c.433G>T c.(433-435)Gac>Tac p.D145Y NXPE1_ENST00000424269.1_Missense_Mutation_p.D429Y|NXPE1_ENST00000251921.2_Missense_Mutation_p.D287Y neurexophilin and PC-esterase domain family, member 1 GTGTTTTTGTCACCTGATAGC 0.433000 41 43 7.53189e-24 1.31735e-23 1 1 0 FOXJ3 22887 broad.mit.edu 37 1 42645382 42645382 + Nonstop_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:42645382T>A ENST00000372572.1 - 15 2179 c.1868A>T c.(1867-1869)tAg>tTg p.*623L FOXJ3_ENST00000545068.1_Nonstop_Mutation_p.*623L|FOXJ3_ENST00000372573.1_Nonstop_Mutation_p.*623L|FOXJ3_ENST00000361776.1_Nonstop_Mutation_p.*589L|FOXJ3_ENST00000361346.1_Nonstop_Mutation_p.*623L|FOXJ3_ENST00000372571.1_Nonstop_Mutation_p.*137L NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 0 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AAACAAGCCCTACACAATTGA 0.468000 32 92 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62076693 62076693 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:62076693C>A ENST00000354587.3 - 3 588 c.412G>T c.(412-414)Ggc>Tgc p.G138C KCNQ2_ENST00000357249.2_Missense_Mutation_p.G138C|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G138C|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G138C|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G138C|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G138C|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G138C|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G138C|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G138C|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G138C|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G138C|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G138C O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 138 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TACTCCACGCCAAACACCACG 0.647000 21 53 1.10513e-12 1.5263e-12 1 1 0 GPR125 166647 broad.mit.edu 37 4 22414882 22414882 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr4:22414882C>A ENST00000334304.5 - 14 2424 c.2155G>T c.(2155-2157)Ggg>Tgg p.G719W GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 719 GPS. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) ATATGGCACCCATCTGACTTC 0.438000 55 73 4.65455e-14 6.69369e-14 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169507181 169507181 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:169507181T>A ENST00000256935.8 + 50 5261 c.5181T>A c.(5179-5181)caT>caA p.H1727Q DOCK2_ENST00000520908.1_Missense_Mutation_p.H1219Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.H788Q NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1727 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCAGGAAGCATGAGTTCATGA 0.527000 41 27 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41539168 41539168 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:41539168G>T ENST00000400454.1 - 16 3472 c.2995C>A c.(2995-2997)Cag>Aag p.Q999K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 999 Fibronectin type-III 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTGATGCTCTGAGATGATATA 0.512000 24 38 7.88262e-20 1.30322e-19 1 1 0 CREBRF 153222 broad.mit.edu 37 5 172539307 172539307 + Splice_Site SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:172539307A>G ENST00000540014.1 + 8 1932 c.e8-1 CREBRF_ENST00000296953.2_Splice_Site Q8IUR6 CE041_HUMAN CREB3 regulatory factor protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TTCCTTTCACAGAGCTTGTCG 0.363000 42 26 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69646516 69646516 + Missense_Mutation SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:69646516A>G ENST00000370598.1 + 5 1795 c.974A>G c.(973-975)cAc>cGc p.H325R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 325 TSP type-1 1. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TACGGGACACACTGCAGCGGC 0.498000 9 28 0 0 1 0 0 TPD52L3 89882 broad.mit.edu 37 9 6328608 6328608 + Silent SNP A A C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:6328608A>C ENST00000344545.5 + 1 260 c.13A>C c.(13-15)Agg>Cgg p.R5R TPD52L3_ENST00000381428.1_Silent_p.R5R|TPD52L3_ENST00000314556.3_Silent_p.R5R NM_033516.5 NP_277051.3 Q96J77 TPD55_HUMAN tumor protein D52-like 3 5 protein binding large_intestine(1)|lung(9)|skin(1) 11 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) GCCACATGCCAGGACAGAGAC 0.468000 32 73 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765344 66765344 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:66765344C>A ENST00000374690.3 + 1 880 c.356C>A c.(355-357)cCg>cAg p.P119Q AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.P119Q|AR_ENST00000504326.1_Missense_Mutation_p.P119Q NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 117 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CCTTCACAGCCGCAGTCGGCC 0.672000 Androgen Insensitivity Syndrome 3 9 0.00024832 0.000265304 1 1 0 SOX6 55553 broad.mit.edu 37 11 16077320 16077320 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:16077320G>T ENST00000352083.6 - 10 1306 c.1229C>A c.(1228-1230)aCc>aAc p.T410N SOX6_ENST00000527619.1_Missense_Mutation_p.T372N|SOX6_ENST00000316399.6_Missense_Mutation_p.T410N|SOX6_ENST00000396356.3_Missense_Mutation_p.T410N|SOX6_ENST00000528252.1_Missense_Mutation_p.T369N|SOX6_ENST00000528429.1_Missense_Mutation_p.T410N P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 410 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TACAGGGCTGGTCCCTCTCTT 0.463000 21 25 6.33239e-15 9.40515e-15 1 1 0 ABHD16A 7920 broad.mit.edu 37 6 31660742 31660742 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:31660742C>A ENST00000538874.1 - 6 650 c.393G>T c.(391-393)tgG>tgT p.W131C ABHD16A_ENST00000395952.3_Intron|ABHD16A_ENST00000440843.2_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron|ABHD16A_ENST00000375842.4_Intron O95870 ABHGA_HUMAN abhydrolase domain containing 16A 0 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 GCGCCCACTCCCAGAGCACTC 0.498000 18 37 2.94398e-08 3.56584e-08 1 1 0 HGF 3082 broad.mit.edu 37 7 81381506 81381506 + Silent SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:81381506C>T ENST00000222390.5 - 5 781 c.555G>A c.(553-555)ggG>ggA p.G185G HGF_ENST00000453411.1_Silent_p.G180G|HGF_ENST00000423064.2_Silent_p.G185G|HGF_ENST00000444829.2_Silent_p.G185G|HGF_ENST00000457544.2_Silent_p.G180G NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 185 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 ACCAGGGTCCCCCTTCTTCCC 0.448000 85 23 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85669587 85669587 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr15:85669587G>T ENST00000310298.4 + 21 2487 c.2235G>T c.(2233-2235)tcG>tcT p.S745S PDE8A_ENST00000339708.5_Silent_p.S699S|PDE8A_ENST00000394553.1_Silent_p.S745S|PDE8A_ENST00000557957.1_Silent_p.S673S O60658 PDE8A_HUMAN phosphodiesterase 8A 745 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) CACGCATTTCGGAAGAATATT 0.433000 25 32 7.92952e-12 1.06274e-11 1 1 0 BHMT 635 broad.mit.edu 37 5 78416283 78416283 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:78416283G>A ENST00000274353.5 + 4 503 c.396G>A c.(394-396)aaG>aaA p.K132K DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron NM_001713.2 NP_001704.2 Q93088 BHMT1_HUMAN betaine--homocysteine S-methyltransferase 132 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) TTAGCTGCAAGAGTGAAACTG 0.443000 21 22 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021687 132021687 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:132021687G>T ENST00000356920.5 + 15 2753 c.2659G>T c.(2659-2661)Gac>Tac p.D887Y PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 887 Actin-like. ATP binding GGAACTGCCTGACTACCTCAT 0.597000 22 176 1.64293e-13 2.33307e-13 1 1 0 PDZD4 57595 broad.mit.edu 37 X 153073937 153073937 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:153073937C>A ENST00000164640.4 - 2 365 c.174G>T c.(172-174)ggG>ggT p.G58G PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 58 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGGAGCTGTCCCCCCGGAGGC 0.652000 8 20 0.00307968 0.00319244 1 1 0 NEFM 4741 broad.mit.edu 37 8 24771353 24771353 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:24771353G>T ENST00000221166.5 + 1 829 c.47G>T c.(46-48)cGg>cTg p.R16L GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R16L|NEFM_ENST00000437366.2_Missense_Mutation_p.R16L P07197 NFM_HUMAN neurofilament, medium polypeptide 16 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCCTACCGGCGGGTAACCGAG 0.701000 6 2 3.59834e-05 3.96605e-05 1 1 0 SNAPC4 6621 broad.mit.edu 37 9 139272416 139272416 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:139272416C>A ENST00000298532.2 - 21 4231 c.3863G>T c.(3862-3864)gGc>gTc p.G1288V NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 1288 SNAPC2-binding. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCCCCGCTGGCCCCCCAGCCA 0.706000 5 12 0.000602214 0.000632954 1 1 0 SOX7 83595 broad.mit.edu 37 8 10587895 10587895 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:10587895G>C ENST00000304501.1 - 1 127 c.49C>G c.(49-51)Ccg>Gcg p.P17A CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 17 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) TCCAGGGCCGGGCACTCGAGA 0.751000 5 9 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923437 9923437 + Missense_Mutation SNP A A C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:9923437A>C ENST00000396573.2 - 10 2159 c.1850T>G c.(1849-1851)gTg>gGg p.V617G GRIN2A_ENST00000562109.1_Missense_Mutation_p.V617G|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V617G|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V617G|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V617G|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V460G NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 617 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTGGACAGGCACGGAGTTATT 0.483000 23 24 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8207411 8207411 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr4:8207411G>T ENST00000382521.3 + 3 390 c.320G>T c.(319-321)tGg>tTg p.W107L SH3TC1_ENST00000539824.1_Intron|SH3TC1_ENST00000245105.3_Intron Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 0 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 ACAGTCCGATGGGTTTGGCCT 0.582000 5 6 0.184627 0.185858 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32638809 32638809 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:32638809C>T ENST00000286827.3 - 5 951 c.480G>A c.(478-480)atG>atA p.M160I TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.M160I NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 160 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCGCCGTCTCCATGAAAGTGG 0.512000 37 60 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100373332 100373332 + RNA SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:100373332C>T ENST00000542585.1 + 0 6214 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCTCCCAGATCCCTGGGGTCA 0.522000 80 20 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183667834 183667834 + Silent SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:183667834T>A ENST00000334444.6 - 21 3264 c.3024A>T c.(3022-3024)gcA>gcT p.A1008A ABCC5_ENST00000265586.6_Silent_p.A1008A NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1008 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGAAGACTCCTGCGATCATTC 0.517000 17 34 0 0 1 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020674 33020674 + RNA SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:33020674G>T ENST00000565407.2 + 0 82 RP11-19N8.2_ENST00000567619.1_RNA GGAGTCTGGGGGAGGCTTGGT 0.567000 31 161 5.44703e-19 8.90795e-19 1 1 0 TRHDE 29953 broad.mit.edu 37 12 72771778 72771778 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:72771778C>A ENST00000261180.4 + 3 1153 c.1057C>A c.(1057-1059)Cga>Aga p.R353R NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 353 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.R353*(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 taattaGGTACGATTATATGC 0.308000 14 20 1.49906e-05 1.6644e-05 1 1 0 PSKH1 5681 broad.mit.edu 37 16 67943379 67943379 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:67943379G>T ENST00000291041.5 + 2 897 c.727G>T c.(727-729)Gcc>Tcc p.A243S NM_006742.2 NP_006733.1 P11801 KPSH1_HUMAN protein serine kinase H1 243 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1) 12 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) CTTCGGCCTGGCCAGTGCTCG 0.557000 11 28 9.70103e-10 1.23791e-09 1 1 0 MPP2 4355 broad.mit.edu 37 17 41955176 41955176 + Nonstop_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:41955176C>A ENST00000269095.4 - 13 1962 c.1658G>T c.(1657-1659)tGa>tTa p.*553L MPP2_ENST00000377184.3_Nonstop_Mutation_p.*570L|MPP2_ENST00000520305.1_Nonstop_Mutation_p.*414L|MPP2_ENST00000518766.1_Nonstop_Mutation_p.*598L|MPP2_ENST00000461854.1_Nonstop_Mutation_p.*577L|MPP2_ENST00000536246.1_Nonstop_Mutation_p.*542L|MPP2_ENST00000523501.1_Nonstop_Mutation_p.*542L NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 0 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) TGAACAGGCTCAGTACACCCA 0.587000 23 85 4.26978e-12 5.77376e-12 1 1 0 SLITRK3 22865 broad.mit.edu 37 3 164905988 164905988 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:164905988G>T ENST00000475390.1 - 2 3074 c.2631C>A c.(2629-2631)ggC>ggA p.G877G SLITRK3_ENST00000241274.3_Silent_p.G877G O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 877 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 CACTACCACAGCCTCCCCCAG 0.562000 HNSCC(40;0.11) 32 53 1.39806e-14 2.0364e-14 1 1 0 ZNF711 7552 broad.mit.edu 37 X 84525058 84525058 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:84525058G>A ENST00000360700.4 + 9 2038 c.1152G>A c.(1150-1152)caG>caA p.Q384Q ZNF711_ENST00000276123.3_Silent_p.Q338Q|ZNF711_ENST00000542798.1_Silent_p.Q180Q|ZNF711_ENST00000373165.3_Silent_p.Q338Q|ZNF711_ENST00000395402.1_Silent_p.Q346Q Q9Y462 ZN711_HUMAN zinc finger protein 711 338 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 CAGCAGCACAGTACCTTCAAA 0.338000 19 61 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324783 31324783 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr18:31324783C>A ENST00000269197.5 + 12 4971 c.4971C>A c.(4969-4971)ccC>ccA p.P1657P NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AACTTCATCCCAGGAATCTTG 0.433000 26 28 2.12542e-12 2.91762e-12 1 1 0 KCNT2 343450 broad.mit.edu 37 1 196227563 196227563 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:196227563T>A ENST00000367433.5 - 25 3001 c.2900A>T c.(2899-2901)cAc>cTc p.H967L KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.H991L|KCNT2_ENST00000367431.4_Missense_Mutation_p.H925L Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 991 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GCTGCGGTGGTGCCCTTGTTC 0.448000 45 27 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114757965 114757965 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr13:114757965C>A ENST00000334062.7 - 22 2362 c.2241G>T c.(2239-2241)atG>atT p.M747I RASA3_ENST00000389544.4_Missense_Mutation_p.M715I NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 747 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) ACTCACCCTGCATCTTCTCCA 0.602000 5 5 2.0095e-06 2.31041e-06 1 1 0 HCN1 348980 broad.mit.edu 37 5 45262305 45262305 + Silent SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:45262305C>G ENST00000303230.4 - 8 2448 c.2391G>C c.(2389-2391)gtG>gtC p.V797V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 797 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCAGAGTGGACACCTCATGGG 0.637000 10 77 0 0 1 0 0 CPNE2 221184 broad.mit.edu 37 16 57151419 57151419 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:57151419G>T ENST00000535318.2 + 6 808 c.447G>T c.(445-447)caG>caT p.Q149H CPNE2_ENST00000537605.1_Missense_Mutation_p.Q47H|CPNE2_ENST00000565874.1_Missense_Mutation_p.Q149H|CPNE2_ENST00000290776.8_Missense_Mutation_p.Q149H Q96FN4 CPNE2_HUMAN copine II 149 C2 2. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) TCGCTGCCCAGGAGCTGTCCG 0.637000 5 5 0.00116845 0.0012196 1 1 0 SLC39A12 221074 broad.mit.edu 37 10 18254432 18254432 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:18254432G>T ENST00000377369.2 + 4 837 c.564G>T c.(562-564)ctG>ctT p.L188L SLC39A12_ENST00000377371.3_Silent_p.L188L|SLC39A12_ENST00000377374.4_Silent_p.L188L|SLC39A12_ENST00000539911.1_Silent_p.L54L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 188 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CCAAAACGCTGCAGAAAAAAT 0.383000 14 47 2.61681e-11 3.46613e-11 1 1 0 ZCCHC18 644353 broad.mit.edu 37 X 103359390 103359390 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:103359390C>A ENST00000537356.2 + 1 588 c.588C>A c.(586-588)ctC>ctA p.L196L ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron NM_001143978.1 NP_001137450.1 P0CG32 ZCC18_HUMAN zinc finger, CCHC domain containing 18 196 nucleic acid binding|zinc ion binding AGCATCTTCTCAGGATGTATG 0.463000 8 34 0.000157383 0.000170154 1 1 0 BACH2 60468 broad.mit.edu 37 6 90660915 90660915 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:90660915C>A ENST00000257749.4 - 7 1617 c.910G>T c.(910-912)Gcg>Tcg p.A304S RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A304S|BACH2_ENST00000343122.3_Missense_Mutation_p.A304S NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 304 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ACATCCCCCGCTCTGTCCTTG 0.642000 19 18 5.35267e-07 6.21733e-07 1 1 0 SLC5A4 6527 broad.mit.edu 37 22 32630886 32630886 + Missense_Mutation SNP C C T rs142605490 byFrequency TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr22:32630886C>T ENST00000266086.4 - 8 870 c.859G>A c.(859-861)Gct>Act p.A287T RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 287 carbohydrate transport|sodium ion transport integral to membrane symporter activity p.A287T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TACCACAAAGCTGTAATGGGC 0.473000 6 123 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19611205 19611205 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:19611205T>A ENST00000361640.4 - 5 1219 c.679A>T c.(679-681)Acc>Tcc p.T227S NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 227 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCTGCCCAGGTATTCCCAAAG 0.572000 12 66 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915224 48915224 + Missense_Mutation SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:48915224A>G ENST00000294954.7 - 11 1733 c.1712T>C c.(1711-1713)aTg>aCg p.M571T LHCGR_ENST00000405626.1_Missense_Mutation_p.M544T|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.M509T|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 571 M -> I (in FMPP). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GAGGATTGCCATTTTCTTAGC 0.378000 33 91 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22266064 22266064 + Silent SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:22266064C>G ENST00000379374.4 + 22 2809 c.2244C>G c.(2242-2244)ctC>ctG p.L748L PHEX_ENST00000537599.1_3'UTR|PHEX_ENST00000535894.1_Silent_p.L651L|PHEX_ENST00000418858.3_Silent_p.L451L NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 748 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CCTGCCGACTCTGGTAGCTGG 0.517000 17 26 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111185 7111185 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:7111185C>A ENST00000306904.5 + 1 1021 c.834C>A c.(832-834)tcC>tcA p.S278S NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 278 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCAGAGGCTCCCATCGAGAGC 0.657000 18 15 1.67942e-08 2.05061e-08 1 1 0 OTUD6B 51633 broad.mit.edu 37 8 92090845 92090845 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:92090845G>A ENST00000285420.4 + 4 766 c.667G>A c.(667-669)Gac>Aac p.D223N OTUD6B_ENST00000404789.3_Missense_Mutation_p.D92N NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 193 OTU. endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) CCATGTGGAAGACTTTCTGCC 0.363000 3 10 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77245205 77245205 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:77245205C>A ENST00000341514.6 + 4 1242 c.1087C>A c.(1087-1089)Ctt>Att p.L363I ATP7A_ENST00000343533.5_Missense_Mutation_p.L363I|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 363 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CAGCTCATCTCTTCAGAAGAT 0.423000 86 196 9.46827e-25 1.68201e-24 1 1 0 SFSWAP 6433 broad.mit.edu 37 12 132281899 132281899 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:132281899G>A ENST00000261674.4 + 16 2852 c.2711G>A c.(2710-2712)cGc>cAc p.R904H SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Missense_Mutation_p.R956H NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 904 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGCCAGGAGCGCTCCAGGTAA 0.701000 14 28 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692141 20692141 + Nonsense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr14:20692141C>A ENST00000315519.2 + 1 351 c.273C>A c.(271-273)taC>taA p.Y91* NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) AGATCTGGTACATTTCCTCCA 0.438000 26 44 4.26978e-12 5.77376e-12 1 1 0 GPRASP2 114928 broad.mit.edu 37 X 101971025 101971025 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:101971025G>C ENST00000543253.1 + 5 2147 c.1228G>C c.(1228-1230)Gag>Cag p.E410Q GPRASP2_ENST00000535209.1_Missense_Mutation_p.E410Q|GPRASP2_ENST00000332262.5_Missense_Mutation_p.E410Q NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 CTGTGAATCTGAGCCAGGAAC 0.562000 25 94 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56019916 56019916 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:56019916G>T ENST00000303059.3 + 1 241 c.241G>T c.(241-243)Gag>Tag p.E81* NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E81*(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GTTGGTCATTGAGGATTCCTG 0.373000 14 70 1.38267e-23 2.39064e-23 1 1 0 WWC3 55841 broad.mit.edu 37 X 10106817 10106817 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:10106817G>T ENST00000380861.4 + 21 3316 c.2925G>T c.(2923-2925)gcG>gcT p.A975A WWC3_ENST00000454666.1_Silent_p.A975A NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 975 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 ATCTCCAGGCGTCGAGAACAC 0.652000 3 11 1.23904e-05 1.37908e-05 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11039277 11039277 + RNA SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:11039277C>G ENST00000470054.1 - 0 926 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTTGCTGCACAGTGATCTGG 0.393000 17 275 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6620184 6620184 + Splice_Site SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:6620184C>A ENST00000321612.6 - 3 620 c.470_splice c.e3+1 p.W157_splice NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 157 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AATACATTACCATCCTGAGTT 0.453000 22 71 1.9806e-07 2.34872e-07 1 1 0 FAM83B 222584 broad.mit.edu 37 6 54792322 54792322 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:54792322C>G ENST00000306858.7 + 4 742 c.626C>G c.(625-627)aCa>aGa p.T209R NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 209 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CGAGTGCGAACAGTAAAAGGC 0.323000 13 50 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899570 233899570 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:233899570C>A ENST00000233840.3 + 2 946 c.946C>A c.(946-948)Cca>Aca p.P316T NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 316 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCCGCGACCTCCAGCCCCTGA 0.687000 29 44 2.4375e-19 4.00068e-19 1 1 0 LOC93432 93432 broad.mit.edu 37 7 141833944 141833944 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:141833944C>G ENST00000477922.3 + 7 793 c.739C>G c.(739-741)Ccc>Gcc p.P247A RP11-1220K2.2_ENST00000550469.2_Missense_Mutation_p.P247A endometrium(1)|lung(5) 6 GGACGCTACCCCCACCGAGGT 0.542000 5 2 0 0 1 0 0 PAGE4 9506 broad.mit.edu 37 X 49597220 49597220 + Missense_Mutation SNP C C A rs149617129 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:49597220C>A ENST00000218068.6 + 4 338 c.259C>A c.(259-261)Cct>Act p.P87T PAGE4_ENST00000376141.1_Missense_Mutation_p.P87T NM_007003.2 NP_008934.1 O60829 GAGC1_HUMAN P antigen family, member 4 (prostate associated) 87 Ovarian(276;0.236) GAAGACTCCACCTAATCCTAA 0.388000 22 43 5.35356e-11 7.04989e-11 1 1 0 SLITRK1 114798 broad.mit.edu 37 13 84453905 84453905 + Nonsense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr13:84453905G>A ENST00000377084.2 - 1 2623 c.1738C>T c.(1738-1740)Cag>Tag p.Q580* NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 580 LRRCT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GCGTACAGCTGAGGGCAGATC 0.537000 14 10 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75191385 75191385 + Silent SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:75191385C>T ENST00000336926.6 - 12 1136 c.1110G>A c.(1108-1110)aaG>aaA p.K370K HIP1_ENST00000434438.2_Silent_p.K370K NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 370 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ACTTCTCATCCTTGTTCACAC 0.408000 T PDGFRB CMML 73 41 0 0 1 0 0 ZNF839 55778 broad.mit.edu 37 14 102792914 102792914 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr14:102792914A>T ENST00000262236.5 + 2 888 c.533A>T c.(532-534)cAg>cTg p.Q178L ZNF839_ENST00000558850.1_Missense_Mutation_p.Q178L|ZNF839_ENST00000559185.1_Missense_Mutation_p.Q178L|ZNF839_ENST00000442396.2_Missense_Mutation_p.Q294L NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 178 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GATGAAGATCAGAGGGAGAGG 0.443000 10 15 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50535003 50535003 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr15:50535003G>T ENST00000267845.3 - 12 1845 c.1443C>A c.(1441-1443)tcC>tcA p.S481S HDC_ENST00000543581.1_Silent_p.S448S NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 481 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GGCTGGGTTGGGAAGTACAGT 0.557000 21 18 0.000229342 0.000247361 1 1 0 PLOD2 5352 broad.mit.edu 37 3 145789157 145789157 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:145789157C>A ENST00000282903.5 - 18 2079 c.1902G>T c.(1900-1902)atG>atT p.M634I PLOD2_ENST00000360060.3_Missense_Mutation_p.M613I|PLOD2_ENST00000461497.1_Missense_Mutation_p.M294I|PLOD2_ENST00000494950.1_Missense_Mutation_p.M579I|RP11-274H2.2_ENST00000480247.1_RNA NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 613 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) CAACTTGCTTCATGTGGATAT 0.393000 30 58 5.45727e-16 8.40865e-16 1 1 0 MYO1G 64005 broad.mit.edu 37 7 45004683 45004683 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:45004683C>A ENST00000258787.7 - 18 2523 c.2387G>T c.(2386-2388)cGg>cTg p.R796L NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 796 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 CTGCCGGGCCCGCCACCTGGG 0.637000 57 51 3.84483e-29 7.10902e-29 1 1 0 AXDND1 126859 broad.mit.edu 37 1 179347826 179347826 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:179347826G>C ENST00000367618.3 + 5 816 c.429G>C c.(427-429)aaG>aaC p.K143N AXDND1_ENST00000457238.2_Missense_Mutation_p.K143N|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 143 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 CTAGGGAGAAGGCAGTTTGTC 0.363000 14 46 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30860829 30860829 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr22:30860829G>T ENST00000403066.1 - 9 748 c.465C>A c.(463-465)cgC>cgA p.R155R SEC14L3_ENST00000415957.2_Silent_p.R155R|SEC14L3_ENST00000402286.1_Silent_p.R137R|SEC14L3_ENST00000401751.1_Silent_p.R155R|SEC14L3_ENST00000539629.1_Silent_p.R155R|SEC14L3_ENST00000540910.1_Silent_p.R137R|SEC14L3_ENST00000215812.4_Silent_p.R214R Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 214 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TAATTTTCCTGCGAGTGTCCT 0.448000 24 47 1.1804e-14 1.7361e-14 1 1 0 PRSS38 339501 broad.mit.edu 37 1 228033725 228033725 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:228033725G>T ENST00000366757.3 + 5 821 c.797G>T c.(796-798)gGc>gTc p.G266V NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 266 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGAGCTGGGGCCGAGGCTGC 0.507000 12 29 1.08611e-07 1.29475e-07 1 1 0 ARHGEF9 23229 broad.mit.edu 37 X 62857995 62857995 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:62857995C>A ENST00000253401.6 - 10 2264 c.1464G>T c.(1462-1464)caG>caT p.Q488H ARHGEF9_ENST00000374872.1_Missense_Mutation_p.Q467H|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.Q435H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.Q386H|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.Q215H NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 488 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 AGACCTGCGACTGAGCGATGC 0.562000 5 12 1.23904e-05 1.37908e-05 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34123663 34123663 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:34123663C>T ENST00000373381.4 - 27 4506 c.4330G>A c.(4330-4332)Ggc>Agc p.G1444S CSMD2_ENST00000373380.1_Missense_Mutation_p.G317S|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1404 integral to membrane|plasma membrane protein binding p.G1404S(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGGAGTCGCCGGCTTCCCAA 0.582000 20 70 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106460637 106460637 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:106460637C>A ENST00000261402.2 - 7 3308 c.1929G>T c.(1927-1929)atG>atT p.M643I NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 643 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TCACATCATCCATGTCTGTGA 0.627000 30 96 1.74807e-11 2.32904e-11 1 1 0 GCK 2645 broad.mit.edu 37 7 44191933 44191933 + Missense_Mutation SNP G G T rs13306389 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:44191933G>T ENST00000403799.3 - 3 769 c.300C>A c.(298-300)agC>agA p.S100R GCK_ENST00000345378.2_Missense_Mutation_p.S101R|GCK_ENST00000437084.1_Missense_Mutation_p.S100R|GCK_ENST00000395796.3_Missense_Mutation_p.S99R NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 100 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TGGTCTTCACGCTCCACTGCC 0.627000 86 93 2.32385e-29 4.31436e-29 1 1 0 SMARCD2 6603 broad.mit.edu 37 17 61914970 61914970 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:61914970G>A ENST00000448276.2 - 2 497 c.232C>T c.(232-234)Cca>Tca p.P78S SMARCD2_ENST00000323347.10_Missense_Mutation_p.P30S|SMARCD2_ENST00000225742.9_Missense_Mutation_p.P3S NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 78 Pro-rich. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 CGGTTCCCTGGTGACATGCCA 0.662000 3 23 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237791208 237791208 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:237791208C>T ENST00000366574.2 + 41 6585 c.6268C>T c.(6268-6270)Cgg>Tgg p.R2090W RYR2_ENST00000360064.6_Missense_Mutation_p.R2088W|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074W NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2090 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTGCTCCATCGGCAGTATGA 0.562000 8 47 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6190690 6190690 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:6190690C>A ENST00000530810.1 - 1 948 c.867G>T c.(865-867)ctG>ctT p.L289L RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATGGGGTTCAGCATTGGTG 0.478000 27 20 8.58068e-18 1.35437e-17 1 1 0 PLEKHM1 9842 broad.mit.edu 37 17 43516990 43516990 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:43516990C>T ENST00000430334.3 - 11 3045 c.2912G>A c.(2911-2913)gGg>gAg p.G971E PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G882E|PLEKHM1_ENST00000580404.1_5'UTR NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 971 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) TTCATACACCCCGTCTGCGAT 0.582000 12 25 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55568676 55568676 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:55568676G>A ENST00000395445.1 - 36 5528 c.5134C>T c.(5134-5136)Cct>Tct p.P1712S PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.P908S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.P646S|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P577S NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGAGCTTCAGGGTCTGTACTT 0.473000 HNSCC(58;0.16) 5 6 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15695284 15695284 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:15695284G>T ENST00000380701.3 + 11 1595 c.1267G>T c.(1267-1269)Gaa>Taa p.E423* CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E423* NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 423 p.E423*(1) TAACGTGAAAGAATTGGAATC 0.383000 31 83 2.47316e-13 3.49016e-13 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885795 88885795 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:88885795C>A ENST00000319675.3 - 1 501 c.405G>T c.(403-405)ctG>ctT p.L135L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 135 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CCAAGTGATTCAGTGAGGCCC 0.562000 35 90 3.11337e-16 4.83e-16 1 1 0 OR5T3 390154 broad.mit.edu 37 11 56019918 56019918 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:56019918G>T ENST00000303059.3 + 1 243 c.243G>T c.(241-243)gaG>gaT p.E81D NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TGGTCATTGAGGATTCCTGGC 0.368000 14 68 7.53681e-25 1.34416e-24 1 1 0 PRAMEF1 65121 broad.mit.edu 37 1 12856013 12856013 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:12856013C>A ENST00000332296.7 + 4 1396 c.1293C>A c.(1291-1293)acC>acA p.T431T PRAMEF1_ENST00000400814.3_Silent_p.T186T NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 431 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGATCTTCACCCCACTTCGGG 0.567000 18 257 1.39806e-14 2.0364e-14 1 1 0 OAS3 4940 broad.mit.edu 37 12 113379695 113379695 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:113379695A>T ENST00000551007.1 + 2 585 c.498A>T c.(496-498)aaA>aaT p.K166N OAS3_ENST00000548514.1_Intron|OAS3_ENST00000546638.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000228928.7_Intron Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 0 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TTGGGGGCAAAAGATCATTGG 0.547000 24 50 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933296 48933296 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:48933296G>T ENST00000356463.3 - 9 1074 c.636C>A c.(634-636)tcC>tcA p.S212S WDR45_ENST00000553851.1_Silent_p.S109S|WDR45_ENST00000485908.1_Silent_p.S176S|WDR45_ENST00000396681.4_Silent_p.S211S|WDR45_ENST00000473974.1_Silent_p.S211S|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000376358.3_Silent_p.S109S|WDR45_ENST00000376368.2_Silent_p.S212S|WDR45_ENST00000376372.3_Silent_p.S211S|WDR45_ENST00000322995.8_Silent_p.S222S NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 211 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 TACCCTTCTGGGAGGCTGAGG 0.562000 8 34 0.000157383 0.000170154 1 1 0 LAMC3 10319 broad.mit.edu 37 9 133901747 133901747 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:133901747G>A ENST00000361069.4 + 2 582 c.449G>A c.(448-450)cGc>cAc p.R150H LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 150 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) ATCTACAAGCGCAGCCGCGCC 0.642000 3 41 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51250712 51250712 + Silent SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr15:51250712C>G ENST00000261842.5 + 14 1678 c.1572C>G c.(1570-1572)ctC>ctG p.L524L AP4E1_ENST00000560508.1_Silent_p.L449L NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 524 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) ATTCCTACCTCTTAGATAAGG 0.328000 17 15 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89180161 89180161 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:89180161C>A ENST00000286614.6 - 4 727 c.446G>T c.(445-447)cGt>cTt p.R149L MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 149 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 AATAGCTTTACGAGTCTCAGG 0.378000 23 46 9.57634e-11 1.243e-10 1 1 0 GRASP 160622 broad.mit.edu 37 12 52407514 52407514 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:52407514C>A ENST00000293662.4 + 5 578 c.498C>A c.(496-498)atC>atA p.I166I GRASP_ENST00000380039.2_Silent_p.I23I|GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Silent_p.I23I NM_181711.2 NP_859062.1 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 166 PDZ. cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) TGGAAGGCATCCGGCATCGAG 0.552000 27 79 1.12875e-08 1.3857e-08 1 1 0 ZNHIT1 10467 broad.mit.edu 37 7 100866969 100866969 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:100866969G>A ENST00000305105.2 + 4 817 c.289G>A c.(289-291)Gag>Aag p.E97K ZNHIT1_ENST00000492315.1_3'UTR NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 97 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) GAGTGTGGCCGAGGGCCCTAA 0.672000 57 24 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55019245 55019245 + Silent SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:55019245T>C ENST00000301202.2 + 3 332 c.210T>C c.(208-210)gaT>gaC p.D70D LAIR2_ENST00000351841.2_Silent_p.D70D NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 70 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) AGTACAAAGATAGTTATAATG 0.512000 35 40 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3288187 3288187 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:3288187C>A ENST00000382004.3 - 8 1106 c.795G>T c.(793-795)ctG>ctT p.L265L RFX3_ENST00000302303.1_Silent_p.L265L|RFX3_ENST00000358730.2_Silent_p.L265L NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 265 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TGTCTTCTTGCAGACGATTAA 0.388000 30 58 1.39806e-14 2.0364e-14 1 1 0 MMP21 118856 broad.mit.edu 37 10 127462520 127462520 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:127462520C>A ENST00000368808.3 - 2 576 c.577G>T c.(577-579)Gac>Tac p.D193Y NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 193 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CGCCGCTGGTCGGCCACGGAC 0.726000 7 4 2.0095e-06 2.31041e-06 1 1 0 ZNF676 163223 broad.mit.edu 37 19 22363521 22363521 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:22363521C>A ENST00000397121.2 - 3 1315 c.998G>T c.(997-999)gGa>gTa p.G333V NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G333V(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGGTTTCTCTCCAGCATGAAT 0.403000 7 76 9.16793e-09 1.12855e-08 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24922725 24922725 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr15:24922725G>T ENST00000329468.2 + 1 2185 c.1711G>T c.(1711-1713)Gta>Tta p.V571L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACAGACTGCGGTAGACCCTGA 0.483000 45 63 1.02687e-29 1.91428e-29 1 1 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 6 50 0 0 1 0 0 HMGN5 79366 broad.mit.edu 37 X 80370643 80370643 + Silent SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:80370643T>A ENST00000358130.2 - 7 682 c.354A>T c.(352-354)gcA>gcT p.A118A HMGN5_ENST00000491275.1_5'UTR NM_030763.2 NP_110390.1 P82970 HMGN5_HUMAN high mobility group nucleosome binding domain 5 118 chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|nucleolus chromatin binding|DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 10 ctgctgccactgcttctttct 0.368000 5 9 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60469302 60469302 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:60469302G>T ENST00000450662.2 + 6 498 c.427G>T c.(427-429)Gaa>Taa p.E143* EFCAB3_ENST00000305286.3_Nonsense_Mutation_p.E91* NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 91 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TGTCTATAATGAATTGAAATG 0.348000 37 107 1.06647e-15 1.63214e-15 1 1 0 ENPP2 5168 broad.mit.edu 37 8 120581547 120581547 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:120581547G>T ENST00000427067.2 - 22 2224 c.2044C>A c.(2044-2046)Ccg>Acg p.P682T ENPP2_ENST00000259486.6_Missense_Mutation_p.P713T|ENPP2_ENST00000522826.1_Missense_Mutation_p.P686T|ENPP2_ENST00000075322.6_Missense_Mutation_p.P661T|ENPP2_ENST00000522167.1_Missense_Mutation_p.P296T Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 661 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CTGAAACTCGGAGAAACACGG 0.502000 35 87 3.90053e-15 5.8898e-15 1 1 0 RSPRY1 89970 broad.mit.edu 37 16 57243045 57243045 + Silent SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:57243045A>T ENST00000537866.1 + 4 1335 c.462A>T c.(460-462)ccA>ccT p.P154P RSPRY1_ENST00000394420.4_Silent_p.P154P Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 154 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 TGGAAGATCCACTGGGACCAG 0.348000 61 68 0 0 1 0 0 IL36RN 26525 broad.mit.edu 37 2 113819796 113819796 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:113819796G>A ENST00000393200.2 + 4 372 c.211G>A c.(211-213)Ggg>Agg p.G71R IL36RN_ENST00000346807.3_Missense_Mutation_p.G71R NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 71 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CCTGTCATGTGGGGTGGGGCA 0.627000 11 40 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115216366 115216366 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:115216366G>T ENST00000369538.3 - 14 2113 c.2066C>A c.(2065-2067)cCc>cAc p.P689H AMPD1_ENST00000353928.6_Missense_Mutation_p.P660H|AMPD1_ENST00000520113.2_Missense_Mutation_p.P693H NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 660 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TTCCATTAGGGGCTCCTGCAG 0.373000 16 24 3.41278e-10 4.39202e-10 1 1 0 TNFAIP3 7128 broad.mit.edu 37 6 138202310 138202310 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:138202310A>T ENST00000237289.4 + 9 2293 c.2227A>T c.(2227-2229)Atg>Ttg p.M743L NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 743 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CAACCAGAGGATGGGCCCTGG 0.662000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 34 29 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221057636 221057636 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:221057636G>T ENST00000366903.6 + 4 2558 c.1057G>T c.(1057-1059)Ggt>Tgt p.G353C HLX_ENST00000549319.1_Missense_Mutation_p.G139C NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 353 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) GAAGCCATCAGGTGGAGCCCC 0.647000 10 22 0.00621372 0.0063973 1 1 0 GALR1 2587 broad.mit.edu 37 18 74980827 74980827 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr18:74980827C>T ENST00000299727.3 + 3 1019 c.1019C>T c.(1018-1020)aCc>aTc p.T340I NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 340 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CGAATAGACACCCCACCATCA 0.373000 22 70 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600186 29600186 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr13:29600186G>T ENST00000431530.3 + 1 1439 c.1381G>T c.(1381-1383)Gat>Tat p.D461Y NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 451 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CAAGCCCTTGGATGTCATTGA 0.483000 16 21 1.02788e-11 1.37354e-11 1 1 0 PCDHA5 56143 broad.mit.edu 37 5 140202139 140202139 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:140202139T>A ENST00000529859.1 + 1 779 c.779T>A c.(778-780)gTt>gAt p.V260D PCDHA5_ENST00000378126.3_Missense_Mutation_p.V260D|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V260D|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACATTAGTTATTAAACTG 0.338000 36 32 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38964892 38964892 + Splice_Site SNP A A C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:38964892A>C ENST00000357387.3 - 16 1431 c.e16+1 RICTOR_ENST00000296782.5_Splice_Site NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TCTGATACTTACAGTCTCTTT 0.323000 15 75 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371559 76371559 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:76371559C>A ENST00000407242.2 - 3 1320 c.1078G>T c.(1078-1080)Ggc>Tgc p.G360C LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.G360C|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.G360C NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 360 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GGCAGGGAGCCTAAGCGCCGG 0.607000 13 21 1.5842e-08 1.93957e-08 1 1 0 MAGEA5 4104 broad.mit.edu 37 X 151284180 151284180 + RNA SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:151284180G>T ENST00000509345.2 - 0 231 GCTCCTCTAGGGCCTCCTGGG 0.532000 22 32 5.45024e-15 8.17536e-15 1 1 0 HHIPL2 79802 broad.mit.edu 37 1 222712029 222712029 + Missense_Mutation SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:222712029T>C ENST00000343410.6 - 5 1596 c.1538A>G c.(1537-1539)aAt>aGt p.N513S NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 513 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GCCATTGAGATTTGGGGATTC 0.428000 15 46 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901127 123901127 + Silent SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:123901127T>A ENST00000431524.1 + 1 831 c.798T>A c.(796-798)gcT>gcA p.A266A NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCAGGAAAGCTGTGGATGGAG 0.527000 53 35 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118165981 118165981 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:118165981A>T ENST00000369448.3 + 2 738 c.491A>T c.(490-492)aAc>aTc p.N164I NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 164 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) AACGGGAAGAACGTGGAGCTG 0.493000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 15 78 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52504893 52504893 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:52504893G>T ENST00000345716.4 + 4 513 c.379G>T c.(379-381)Gcg>Tcg p.A127S NISCH_ENST00000488380.1_Missense_Mutation_p.A127S|NISCH_ENST00000420808.2_Missense_Mutation_p.A127S|NISCH_ENST00000479054.1_Missense_Mutation_p.A127S NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 127 Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TGGCATCACCGCGGCACTGGC 0.512000 33 59 4.11147e-13 5.74845e-13 1 1 0 TP53 7157 broad.mit.edu 37 17 7578475 7578475 + Missense_Mutation SNP G G A rs137852790 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:7578475G>A ENST00000420246.2 - 5 587 c.455C>T c.(454-456)cCg>cTg p.P152L TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 152 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTGCCGGGCGGGGGTGTGGA 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 19 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43280019 43280019 + Splice_Site SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:43280019G>T ENST00000374518.4 + 2 239 c.e2+1 NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCTTTCACAGGTATGTTAGGC 0.473000 24 88 5.61819e-17 8.80636e-17 1 1 0 NHS 4810 broad.mit.edu 37 X 17743770 17743770 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:17743770G>T ENST00000380060.3 + 6 1819 c.1481G>T c.(1480-1482)gGg>gTg p.G494V NHS_ENST00000398097.3_Missense_Mutation_p.G338V NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 494 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) AATAGAGGTGGGGATGCTGAG 0.512000 39 54 3.62531e-18 5.80305e-18 1 1 0 KCNA1 3736 broad.mit.edu 37 12 5021199 5021199 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:5021199G>T ENST00000382545.3 + 2 1762 c.655G>T c.(655-657)Gac>Tac p.D219Y KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 219 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATCTTCACAGACCCCTTCTT 0.547000 22 52 4.35082e-09 5.42953e-09 1 1 0 C2orf50 130813 broad.mit.edu 37 2 11273691 11273691 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:11273691G>A ENST00000381585.3 + 1 513 c.231G>A c.(229-231)gaG>gaA p.E77E C2orf50_ENST00000405022.3_Silent_p.E77E Q96LR7 CB050_HUMAN chromosome 2 open reading frame 50 77 breast(1)|large_intestine(1)|upper_aerodigestive_tract(1) 3 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134) AGCTCCTGGAGGCCGAGCGGC 0.682000 6 12 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35928844 35928844 + Missense_Mutation SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:35928844A>G ENST00000374694.1 - 1 1518 c.1514T>C c.(1513-1515)gTg>gCg p.V505A NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 505 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 GAAGAGGGACACGAAGCCGGC 0.627000 5 39 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62200805 62200805 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:62200805C>A ENST00000467148.1 - 4 853 c.784G>T c.(784-786)Gtg>Ttg p.V262L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TGTAGCAGCACCGGCCGGCGG 0.672000 7 22 0.00448238 0.00463589 1 1 0 MAD2L1BP 9587 broad.mit.edu 37 6 43608008 43608008 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:43608008G>T ENST00000451025.2 + 4 869 c.659G>T c.(658-660)cGc>cTc p.R220L MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.R188L NM_001003690.1 NP_001003690.1 Q15013 MD2BP_HUMAN MAD2L1 binding protein 188 mitotic cell cycle checkpoint|regulation of exit from mitosis cytoplasm|nucleus|spindle protein binding breast(1)|large_intestine(1)|lung(3) 5 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GCTTGTTTGCGCCGTCTCTTC 0.587000 9 25 3.09899e-07 3.63689e-07 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81746469 81746469 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:81746469C>A ENST00000356860.3 - 6 755 c.417G>T c.(415-417)gaG>gaT p.E139D CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E139D|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E139D NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 139 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GGCTGCCTGGCTCACTGTCAT 0.348000 55 24 2.84144e-21 4.78502e-21 1 1 0 ITGAD 3681 broad.mit.edu 37 16 31427951 31427951 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:31427951G>A ENST00000389202.2 + 20 2532 c.2483G>A c.(2482-2484)cGg>cAg p.R828Q NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 828 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCGCACCGACGGGTGTCAGGA 0.582000 19 41 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761932 55761932 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:55761932G>T ENST00000278409.1 - 1 169 c.170C>A c.(169-171)aCa>aAa p.T57K NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) ATACATGGGTGTGTGAAGCTG 0.403000 15 49 6.72482e-11 8.77909e-11 1 1 0 BZRAP1 9256 broad.mit.edu 37 17 56389368 56389368 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:56389368G>A ENST00000355701.3 - 17 3684 c.2814C>T c.(2812-2814)ggC>ggT p.G938G BZRAP1_ENST00000343736.4_Silent_p.G938G|BZRAP1_ENST00000268893.6_Silent_p.G878G NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 938 Fibronectin type-III 2. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GATAGGGTGTGCCAGGCCGTA 0.637000 22 35 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19628912 19628912 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:19628912G>A ENST00000299295.2 + 2 557 c.166G>A c.(166-168)Gag>Aag p.E56K CHODL_ENST00000338326.3_Missense_Mutation_p.E15K|CHODL_ENST00000400128.1_Missense_Mutation_p.E15K|CHODL_ENST00000400135.1_Missense_Mutation_p.E15K|CHODL_ENST00000543733.1_Missense_Mutation_p.E37K|CHODL_ENST00000400127.1_Missense_Mutation_p.E15K|CHODL_ENST00000400131.1_Missense_Mutation_p.E15K NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 56 C-type lectin. E -> G (in Ref. 2; AAP43902). muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) GAGCTTTCAGGAGGCACGCCT 0.468000 20 36 0 0 1 0 0 TTC12 54970 broad.mit.edu 37 11 113235730 113235730 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:113235730G>T ENST00000529221.1 + 21 2095 c.1990G>T c.(1990-1992)Gtg>Ttg p.V664L TTC12_ENST00000483239.2_Missense_Mutation_p.V670L|TTC12_ENST00000314756.3_Missense_Mutation_p.V664L|TTC12_ENST00000393020.1_Intron NM_017868.3 NP_060338.3 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 664 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GAAGACGGCCGTGCAGGTGAA 0.562000 15 37 0.000422831 0.000448578 1 1 0 ATXN2 6311 broad.mit.edu 37 12 111956183 111956183 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:111956183G>A ENST00000377617.3 - 9 1676 c.1515C>T c.(1513-1515)tcC>tcT p.S505S ATXN2_ENST00000389153.4_Silent_p.S240S|ATXN2_ENST00000550104.1_Silent_p.S505S|ATXN2_ENST00000542287.2_Silent_p.S240S|ATXN2_ENST00000535949.1_Silent_p.S216S NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 505 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CACTTCCCCAGGATATGACTT 0.428000 33 79 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117033102 117033102 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:117033102A>T ENST00000371876.1 - 6 4005 c.1584T>A c.(1582-1584)gaT>gaA p.D528E KLHL13_ENST00000262820.3_Missense_Mutation_p.D579E|KLHL13_ENST00000371882.1_Missense_Mutation_p.D528E|KLHL13_ENST00000469946.1_Missense_Mutation_p.D528E|KLHL13_ENST00000541812.1_Missense_Mutation_p.D563E|KLHL13_ENST00000371878.1_Missense_Mutation_p.D528E|KLHL13_ENST00000545703.1_Missense_Mutation_p.D537E|KLHL13_ENST00000540167.1_Missense_Mutation_p.D563E|KLHL13_ENST00000539496.1_Missense_Mutation_p.D582E Q9P2N7 KLH13_HUMAN kelch-like family member 13 579 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CGACCCCAACATCACTCTGCC 0.423000 61 140 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229853 87229853 + Missense_Mutation SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:87229853A>G ENST00000297524.3 - 3 1128 c.1025T>C c.(1024-1026)cTa>cCa p.L342P SLC7A13_ENST00000419776.2_Missense_Mutation_p.L333P NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 342 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 AGTGACAAGTAGTAGCACAGC 0.348000 75 72 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110631194 110631194 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:110631194C>A ENST00000399066.3 - 2 1022 c.295G>T c.(295-297)Ggc>Tgc p.G99C SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000533895.1_Missense_Mutation_p.G101C|SYBU_ENST00000528647.1_Missense_Mutation_p.G101C|SYBU_ENST00000440310.1_Missense_Mutation_p.G102C|SYBU_ENST00000419099.1_Missense_Mutation_p.G101C|SYBU_ENST00000433638.1_Missense_Mutation_p.G102C|SYBU_ENST00000276646.9_Missense_Mutation_p.G102C|SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000446070.2_Missense_Mutation_p.G101C|SYBU_ENST00000422135.1_Missense_Mutation_p.G102C|SYBU_ENST00000532779.1_Missense_Mutation_p.G34C|SYBU_ENST00000533065.1_5'UTR|SYBU_ENST00000424158.2_Missense_Mutation_p.G107C|SYBU_ENST00000533171.1_Missense_Mutation_p.G102C|SYBU_ENST00000408908.2_Missense_Mutation_p.G102C NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 102 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 GGGCAAAAGCCAATGGGGCTG 0.473000 34 76 6.00712e-18 9.54816e-18 1 1 0 PI4KA 5297 broad.mit.edu 37 22 21161738 21161738 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr22:21161738G>A ENST00000255882.6 - 10 1166 c.1080C>T c.(1078-1080)ccC>ccT p.P360P PI4KA_ENST00000572273.1_Silent_p.P302P NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 302 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GATCAGCACTGGGGTTGGCCT 0.517000 13 18 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77193733 77193733 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr18:77193733G>A ENST00000253506.5 + 3 1750 c.1381G>A c.(1381-1383)Gtg>Atg p.V461M NFATC1_ENST00000591814.1_Missense_Mutation_p.V461M|NFATC1_ENST00000318065.5_Missense_Mutation_p.V448M|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000592223.1_Missense_Mutation_p.V448M|NFATC1_ENST00000587635.1_Missense_Mutation_p.V461M|NFATC1_ENST00000586434.1_Missense_Mutation_p.V448M|NFATC1_ENST00000427363.2_Missense_Mutation_p.V461M|NFATC1_ENST00000542384.1_Missense_Mutation_p.V461M|NFATC1_ENST00000329101.4_Missense_Mutation_p.V448M NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 461 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) ACACCCCATCGTGCAGGTAGG 0.617000 14 67 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54782813 54782813 + Missense_Mutation SNP C C A rs141001610 byFrequency TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:54782813C>A ENST00000391748.1 - 6 936 c.809G>T c.(808-810)cGg>cTg p.R270L LILRB2_ENST00000391746.1_Missense_Mutation_p.R270L|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154L|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270L|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270L NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 270 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGGGGCTGCCGGCCAGGGAG 0.627000 17 30 4.7546e-09 5.90092e-09 1 1 0 NID1 4811 broad.mit.edu 37 1 236201504 236201504 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:236201504G>T ENST00000264187.6 - 5 1267 c.1185C>A c.(1183-1185)caC>caA p.H395Q NID1_ENST00000366595.3_Missense_Mutation_p.H395Q NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 395 EGF-like 1. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCGAGCACTGGTGTCTGTTGT 0.537000 57 24 3.40343e-31 6.39731e-31 1 1 0 DNAH7 56171 broad.mit.edu 37 2 196749473 196749473 + Silent SNP A A G rs149685696 by1000genomes TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:196749473A>G ENST00000312428.6 - 35 5699 c.5599T>C c.(5599-5601)Ttg>Ctg p.L1867L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1867 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTAAATTTCAATCGATCATCA 0.358000 18 19 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129251554 129251554 + Missense_Mutation SNP C C A rs104893789 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:129251554C>A ENST00000296271.3 + 4 969 c.875C>A c.(874-876)gCg>gAg p.A292E NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 292 A -> E (in CSNBAD1). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) ACCATCCCAGCGTTCTTTGCC 0.582000 20 44 8.00594e-06 8.99923e-06 1 1 0 GALNT6 11226 broad.mit.edu 37 12 51773503 51773503 + Silent SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:51773503C>G ENST00000543196.2 - 2 268 c.63G>C c.(61-63)gtG>gtC p.V21V GALNT6_ENST00000356317.3_Silent_p.V21V Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 21 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 AGAGGAAGAGCACAAAGGCGC 0.637000 9 27 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15928043 15928043 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:15928043C>A ENST00000504595.1 + 3 653 c.172C>A c.(172-174)Ctg>Atg p.L58M FBXL7_ENST00000329673.7_Missense_Mutation_p.L46M|FBXL7_ENST00000510662.1_Missense_Mutation_p.L11M NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 58 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CAGCCCAGCCCTGATATGTCC 0.602000 32 157 3.11337e-16 4.83e-16 1 1 0 CARD11 84433 broad.mit.edu 37 7 2987266 2987266 + Nonsense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:2987266G>A ENST00000396946.4 - 3 566 c.163C>T c.(163-165)Cag>Tag p.Q55* NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 55 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCTTCATCCTGCTCATCAATG 0.542000 Mis DLBCL 100 68 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10910333 10910333 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:10910333C>T ENST00000298232.7 - 21 1736 c.1369G>A c.(1369-1371)Gat>Aat p.D457N TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D475N|TPTE_ENST00000342420.5_Missense_Mutation_p.D437N NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 475 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTTCACATCATCATACAGA 0.338000 20 92 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47883026 47883026 + Silent SNP C C T rs139995746 byFrequency TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:47883026C>T ENST00000328771.4 + 14 3115 c.2766C>T c.(2764-2766)gcC>gcT p.A922A NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 922 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GCCTGGTGGCCGATGGCTGGC 0.632000 5 63 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25551278 25551278 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:25551278G>T ENST00000329474.6 + 27 2837 c.2469G>T c.(2467-2469)ttG>ttT p.L823F NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 823 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ATGTCCTGTTGGAGCAGTCTG 0.393000 37 54 9.45814e-24 1.64159e-23 1 1 0 GPR112 139378 broad.mit.edu 37 X 135432101 135432101 + Missense_Mutation SNP G G T rs151076999 byFrequency TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:135432101G>T ENST00000394143.1 + 6 6527 c.6236G>T c.(6235-6237)gGt>gTt p.G2079V GPR112_ENST00000394141.1_Missense_Mutation_p.G1874V|GPR112_ENST00000412101.1_Missense_Mutation_p.G1874V|GPR112_ENST00000287534.4_Missense_Mutation_p.G2016V|GPR112_ENST00000370652.1_Missense_Mutation_p.G2079V NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2079 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACACTGGGTGGTATCACTACT 0.473000 44 102 5.73435e-26 1.03492e-25 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141055420 141055420 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:141055420G>T ENST00000389484.3 - 84 13895 c.12924C>A c.(12922-12924)taC>taA p.Y4308* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4308 EGF-like 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGCAGTGGCAGTAAGGCTGGT 0.468000 TSP Lung(27;0.18) 87 133 3.26865e-45 6.24766e-45 1 1 0 GPR119 139760 broad.mit.edu 37 X 129518896 129518896 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:129518896G>T ENST00000276218.2 - 1 615 c.526C>A c.(526-528)Cca>Aca p.P176T NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 176 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGCATGGCTGGGAAGAAGCCA 0.527000 21 56 2.39187e-15 3.64821e-15 1 1 0 GABPA 2551 broad.mit.edu 37 21 27124298 27124298 + Splice_Site SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:27124298A>T ENST00000354828.3 + 5 834 c.e5-1 GABPA_ENST00000487266.1_Splice_Site|GABPA_ENST00000400075.3_Splice_Site NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 TCCACTGTTCAGGAATTGAAC 0.343000 19 49 0 0 1 0 0 KHNYN 23351 broad.mit.edu 37 14 24900790 24900790 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr14:24900790C>T ENST00000251343.5 + 3 462 c.323C>T c.(322-324)tCa>tTa p.S108L KHNYN_ENST00000556842.1_Missense_Mutation_p.S108L|KHNYN_ENST00000553935.1_Missense_Mutation_p.S108L O15037 KHNYN_HUMAN KH and NYN domain containing 108 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 TGGAGCACGTCAGCCCATCTG 0.602000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 44 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60369018 60369018 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:60369018G>T ENST00000296597.5 + 2 321 c.194G>T c.(193-195)gGg>gTg p.G65V NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_Intron NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 65 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TATGAAGCAGGGGATATTCCA 0.303000 41 47 7.70917e-36 1.46119e-35 1 1 0 MYF6 4618 broad.mit.edu 37 12 81101884 81101884 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:81101884C>A ENST00000228641.3 + 1 608 c.386C>A c.(385-387)cCc>cAc p.P129H NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 129 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CAGAGGCTGCCCAAGGTGGAG 0.607000 32 49 1.30897e-18 2.12532e-18 1 1 0 MED1 5469 broad.mit.edu 37 17 37596726 37596726 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:37596726C>A ENST00000300651.6 - 5 535 c.312G>T c.(310-312)acG>acT p.T104T MED1_ENST00000394287.3_Silent_p.T104T NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 104 Interaction with ESR1.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ACATATCTGACGTGATGTAAC 0.428000 HNSCC(31;0.082) 36 89 5.8336e-16 8.95804e-16 1 1 0 CHD6 84181 broad.mit.edu 37 20 40102031 40102031 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:40102031C>A ENST00000373233.3 - 17 2772 c.2595G>T c.(2593-2595)ggG>ggT p.G865G CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 865 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TGAGATTGATCCCCAGGCCTC 0.507000 8 20 0.0381472 0.0386593 1 1 0 AMER3 205147 broad.mit.edu 37 2 131520883 131520883 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:131520883C>A ENST00000423981.1 + 2 1348 c.1238C>A c.(1237-1239)cCa>cAa p.P413Q AMER3_ENST00000321420.4_Missense_Mutation_p.P413Q NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GCCACCTTCCCACGGGACAGC 0.612000 20 33 2.54575e-18 4.08945e-18 1 1 0 OGDHL 55753 broad.mit.edu 37 10 50960780 50960780 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:50960780C>A ENST00000374103.4 - 4 467 c.382G>T c.(382-384)Ggt>Tgt p.G128C OGDHL_ENST00000432695.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.G71C NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 128 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 ACATGGTGACCCCGGATCTGG 0.602000 15 31 2.31682e-05 2.55981e-05 1 1 0 KCNA5 3741 broad.mit.edu 37 12 5154619 5154619 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:5154619C>A ENST00000252321.3 + 1 1535 c.1306C>A c.(1306-1308)Ctg>Atg p.L436M NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 436 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GGAGCTGGGGCTGCTCATCTT 0.597000 17 46 5.35267e-07 6.21733e-07 1 1 0 KRT16P2 400578 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 4 27 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171583631 171583631 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:171583631C>A ENST00000176763.5 - 2 661 c.318G>T c.(316-318)ctG>ctT p.L106L NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 106 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCTTACCCACAGCTTCCCGT 0.592000 33 27 1.61788e-16 2.52724e-16 1 1 0 ANTXR1 84168 broad.mit.edu 37 2 69472355 69472355 + Splice_Site SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:69472355A>G ENST00000303714.4 + 18 1756 c.e18-1 NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 ATTCTTTTCTAGGGGCGCTGC 0.587000 Familial Infantile Hemangioma 19 47 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33318380 33318380 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:33318380G>T ENST00000270112.2 + 4 1003 c.643G>T c.(643-645)Ggt>Tgt p.G215C NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 215 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 AGGGATCCTGGGTTACTCGGA 0.517000 34 87 2.09667e-21 3.54399e-21 1 1 0 WNK2 65268 broad.mit.edu 37 9 95993313 95993313 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:95993313G>T ENST00000297954.4 + 3 998 c.998G>T c.(997-999)gGa>gTa p.G333V WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.G319V|WNK2_ENST00000395477.2_Missense_Mutation_p.G333V|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 333 Protein kinase. intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TTCATCACCGGACCAACTGGG 0.537000 45 91 5.48756e-27 1.00237e-26 1 1 0 C1ORF220 400798 broad.mit.edu 37 1 178514940 178514940 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:178514940A>T ENST00000367636.4 + 2 664 c.326A>T c.(325-327)cAa>cTa p.Q109L C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR TCTCTGCTTCAATTCTGGTGC 0.443000 12 61 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35550653 35550653 + Silent SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:35550653G>C ENST00000262626.2 + 5 1062 c.237G>C c.(235-237)tcG>tcC p.S79S HPN_ENST00000600675.1_3'UTR|HPN_ENST00000597419.1_Silent_p.S31S|HPN_ENST00000392226.1_Silent_p.S79S|HPN-AS1_ENST00000392227.2_RNA NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 79 SRCR. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) TGTGCTCCTCGCGCTCCAACG 0.701000 3 1 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468178 56468178 + Silent SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:56468178G>C ENST00000312153.1 + 1 315 c.315G>C c.(313-315)ggG>ggC p.G105G NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 TCTCTGCAGGGCTGGCCTATA 0.532000 19 83 0 0 1 0 0 BAG1 573 broad.mit.edu 37 9 33264433 33264433 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:33264433C>A ENST00000472232.3 - 1 326 c.240G>T c.(238-240)tcG>tcT p.S80S BAG1_ENST00000379704.2_5'UTR NM_001172415.1|NM_004323.5 NP_001165886.1|NP_004314.5 Q99933 BAG1_HUMAN BCL2-associated athanogene 80 Arg-rich. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00506) CGCTCCGGGTCGAGCGGCGCC 0.701000 18 34 1.45105e-14 2.10008e-14 1 1 0 IL18RAP 8807 broad.mit.edu 37 2 103067322 103067322 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:103067322G>A ENST00000264260.2 + 11 1814 c.1225G>A c.(1225-1227)Gat>Aat p.D409N IL18RAP_ENST00000409369.1_Missense_Mutation_p.D267N NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 409 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AAAGGATTTTGATGCTTTCGT 0.338000 23 47 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804737 27804737 + Silent SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:27804737T>C ENST00000408964.2 + 1 5349 c.5298T>C c.(5296-5298)caT>caC p.H1766H NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1766 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AGAGAAGCCATTGCAGTCCCT 0.527000 85 237 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130775406 130775406 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:130775406T>A ENST00000509018.1 - 24 3818 c.3613A>T c.(3613-3615)Aca>Tca p.T1205S RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T928S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T1213S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T1213S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T1218S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T1205S|FNIP1_ENST00000514667.1_Missense_Mutation_p.T1255S NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1205 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GGTAAACTTGTATCTAAAAAT 0.328000 14 12 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 63994156 63994156 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:63994156C>A ENST00000324472.4 - 13 1472 c.1289G>T c.(1288-1290)gGt>gTt p.G430V NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 430 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CCAGGCACTACCTTGAATTAG 0.308000 26 47 6.38683e-12 8.61082e-12 1 1 0 COL9A2 1298 broad.mit.edu 37 1 40768852 40768852 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:40768852C>A ENST00000372748.3 - 29 1650 c.1554G>T c.(1552-1554)cgG>cgT p.R518R COL9A2_ENST00000466267.1_5'UTR NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 518 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CAGTGGCATCCCGGCCCTGAA 0.642000 7 10 3.09899e-07 3.63689e-07 1 1 0 CMTR2 55783 broad.mit.edu 37 16 71317669 71317669 + Nonsense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:71317669G>A ENST00000338099.5 - 3 2491 c.2155C>T c.(2155-2157)Cag>Tag p.Q719* FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.Q719* Q8IYT2 FTSJ1_HUMAN 719 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AAAACCTGCTGGGGTGAGTCA 0.448000 21 19 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35928624 35928624 + Missense_Mutation SNP C C T rs142348124 by1000genomes TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:35928624C>T ENST00000490799.1 - 14 1987 c.1634G>A c.(1633-1635)cGg>cAg p.R545Q SLC26A8_ENST00000394602.2_Missense_Mutation_p.R440Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R545Q NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 545 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TCTTACCTCCCGATAATCATT 0.433000 20 62 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56019917 56019917 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:56019917A>T ENST00000303059.3 + 1 242 c.242A>T c.(241-243)gAg>gTg p.E81V NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTGGTCATTGAGGATTCCTGG 0.368000 16 68 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53186142 53186142 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:53186142G>A ENST00000417996.2 - 5 1143 c.1069C>T c.(1069-1071)Ctg>Ttg p.L357L KRT3_ENST00000309505.3_Silent_p.L357L NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 357 Linker 12.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TCCATGGACAGCACCACAGAT 0.512000 10 31 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97373074 97373074 + Silent SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:97373074C>G ENST00000264963.4 - 8 988 c.966G>C c.(964-966)ctG>ctC p.L322L LMAN2L_ENST00000377079.4_Silent_p.L333L|LMAN2L_ENST00000426463.2_Silent_p.L188L|LMAN2L_ENST00000537039.1_Silent_p.L184L|LMAN2L_ENST00000534882.1_Silent_p.L177L NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 322 ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 CAGAAAACACCAGGGAGAAAA 0.522000 11 23 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130419787 130419787 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:130419787C>A ENST00000370904.1 - 10 1216 c.306G>T c.(304-306)gaG>gaT p.E102D IGSF1_ENST00000370900.1_Missense_Mutation_p.E111D|IGSF1_ENST00000370901.4_Missense_Mutation_p.E111D|IGSF1_ENST00000370903.3_Missense_Mutation_p.E111D|IGSF1_ENST00000370910.1_Missense_Mutation_p.E102D|IGSF1_ENST00000361420.3_Missense_Mutation_p.E111D Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 111 Ig-like C2-type 1. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ACCAGCCTGTCTCCTTCCAGT 0.493000 33 77 8.88839e-20 1.46416e-19 1 1 0 LRIT2 340745 broad.mit.edu 37 10 85984760 85984760 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:85984760G>T ENST00000372113.4 - 2 226 c.221C>A c.(220-222)tCt>tAt p.S74Y LRIT2_ENST00000538192.1_Missense_Mutation_p.S74Y NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 74 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GTTGATGAAAGACCCTTGGGG 0.463000 37 66 1.836e-18 2.95982e-18 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118568009 118568009 + Nonsense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:118568009C>T ENST00000336338.5 - 27 3826 c.3761G>A c.(3760-3762)tGg>tAg p.W1254* NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1254 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CATGATGTCCCAGGTGGGTTC 0.463000 23 62 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94058538 94058538 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:94058538G>T ENST00000297268.6 + 51 4221 c.3750G>T c.(3748-3750)atG>atT p.M1250I NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1250 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCAAGGAAATGGCTACCCAAC 0.438000 HNSCC(75;0.22) 42 10 2.35958e-20 3.92975e-20 1 1 0 KIAA0368 23392 broad.mit.edu 37 9 114176891 114176891 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:114176891C>A ENST00000259335.4 - 20 2338 c.2339G>T c.(2338-2340)gGg>gTg p.G780V KIAA0368_ENST00000338205.5_Missense_Mutation_p.G602V NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 GGGCACCACCCCCGCACTGTG 0.542000 31 84 5.91797e-21 9.92903e-21 1 1 0 LURAP1 541468 broad.mit.edu 37 1 46669138 46669138 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:46669138G>T ENST00000371980.3 + 1 133 c.40G>T c.(40-42)Gat>Tat p.D14Y POMGNT1_ENST00000371992.1_Intron|POMGNT1_ENST00000396420.3_Intron NM_001013615.2 NP_001013633.1 Q96LR2 CA190_HUMAN leucine rich adaptor protein 1 14 positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm TGACCTGCGGGATGTGGAGGG 0.716000 16 37 3.52763e-06 4.01512e-06 1 1 0 GUCY2C 2984 broad.mit.edu 37 12 14766090 14766090 + Silent SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:14766090C>T ENST00000261170.3 - 27 3319 c.3183G>A c.(3181-3183)ttG>ttA p.L1061L RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 1061 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TATTCAGCTGCAAGTATTCCA 0.433000 35 116 0 0 1 0 0 HIGD1A 25994 broad.mit.edu 37 3 42835654 42835654 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:42835654G>A ENST00000321331.7 - 2 209 c.92C>T c.(91-93)cCc>cTc p.P31L HIGD1A_ENST00000452906.2_Missense_Mutation_p.P45L|HIGD1A_ENST00000418900.2_Missense_Mutation_p.P31L|HIGD1A_ENST00000430190.1_Missense_Mutation_p.P31L|HIGD1A_ENST00000470543.1_Intron NM_001099669.1|NM_014056.3 NP_001093139.1|NP_054775.2 Q9Y241 HIG1A_HUMAN HIG1 hypoxia inducible domain family, member 1A 31 HIG1. response to stress integral to membrane|protein complex protein binding lung(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.217) CTTACCAACGGGTACGAATGG 0.378000 23 22 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325709 158325709 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:158325709G>T ENST00000444681.2 + 3 714 c.421G>T c.(421-423)Gtg>Ttg p.V141L CD1E_ENST00000368160.3_Missense_Mutation_p.V240L|CD1E_ENST00000368157.1_Missense_Mutation_p.V51L|CD1E_ENST00000434258.1_Missense_Mutation_p.V238L|CD1E_ENST00000368167.3_Missense_Mutation_p.V240L|CD1E_ENST00000452291.2_Missense_Mutation_p.V51L|CD1E_ENST00000368164.3_Missense_Mutation_p.V51L|CD1E_ENST00000368165.3_Missense_Mutation_p.V150L|CD1E_ENST00000368161.3_Missense_Mutation_p.V240L|CD1E_ENST00000368166.3_Missense_Mutation_p.V51L|CD1E_ENST00000368154.1_Missense_Mutation_p.V51L|CD1E_ENST00000368155.3_Missense_Mutation_p.V150L|CD1E_ENST00000368156.1_Missense_Mutation_p.V150L|CD1E_ENST00000368163.3_Missense_Mutation_p.V240L NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 240 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CCCAAAGCCCGTGTGGGTGAT 0.622000 47 35 1.00776e-21 1.70979e-21 1 1 0 OR5AP2 338675 broad.mit.edu 37 11 56409476 56409476 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:56409476C>A ENST00000544374.1 - 1 471 c.443G>T c.(442-444)tGc>tTc p.C148F OR5AP2_ENST00000302981.1_Missense_Mutation_p.C147F Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TAGCAAAAAGCAAATTCTCCC 0.478000 26 65 4.7796e-09 5.91574e-09 1 1 0 INPP1 3628 broad.mit.edu 37 2 191231523 191231523 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:191231523G>C ENST00000392329.2 + 5 1068 c.368G>C c.(367-369)aGg>aCg p.R123T INPP1_ENST00000541441.1_Missense_Mutation_p.R123T|INPP1_ENST00000322522.4_Missense_Mutation_p.R123T NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 123 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) GCATTAGCCAGGGTTGTTCAT 0.458000 26 41 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39227928 39227928 + Silent SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:39227928A>T ENST00000340369.3 - 2 3237 c.3009T>A c.(3007-3009)ccT>ccA p.P1003P XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.P1003P NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1003 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCCCAGCCAGAGGGACTGCCT 0.582000 12 25 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271337 59271337 + Missense_Mutation SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:59271337T>C ENST00000313253.1 + 1 289 c.289T>C c.(289-291)Tgc>Cgc p.C97R NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CTATACAAGCTGCATGACACA 0.478000 63 137 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175334331 175334331 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:175334331G>C ENST00000367674.1 - 12 3110 c.2402C>G c.(2401-2403)gCa>gGa p.A801G TNR_ENST00000263525.2_Missense_Mutation_p.A801G NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 801 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GAGTCTGTCTGCTGGGGGAGA 0.537000 14 41 0 0 1 0 0 CNTFR 1271 broad.mit.edu 37 9 34557624 34557624 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:34557624G>T ENST00000378980.3 - 6 797 c.504C>A c.(502-504)taC>taA p.Y168* CNTFR_ENST00000351266.4_Nonsense_Mutation_p.Y168* NM_001207011.1|NM_147164.2 NP_001193940.1|NP_671693.1 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 168 Fibronectin type-III 1. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1) 15 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) ACAGGTGCATGTAGCGAATGT 0.527000 24 34 1.68575e-08 2.05281e-08 1 1 0 UBR5 51366 broad.mit.edu 37 8 103289393 103289393 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:103289393C>T ENST00000520539.1 - 45 6922 c.6316G>A c.(6316-6318)Gcc>Acc p.A2106T UBR5_ENST00000220959.4_Missense_Mutation_p.A2106T|UBR5_ENST00000521922.1_Missense_Mutation_p.A2100T NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2106 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTCAGATTGGCAGCATAAGAC 0.358000 19 56 0 0 1 0 0 FAM84A 151354 broad.mit.edu 37 2 14774527 14774527 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:14774527C>A ENST00000295092.2 + 2 712 c.424C>A c.(424-426)Ccg>Acg p.P142T FAM84A_ENST00000331243.4_Missense_Mutation_p.P142T NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 142 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) cgcgcccgccccgcACTGGGC 0.736000 5 5 0.217242 0.218206 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8331608 8331608 + Missense_Mutation SNP T T G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:8331608T>G ENST00000381196.4 - 41 6051 c.5508A>C c.(5506-5508)caA>caC p.Q1836H PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1430H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1429H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1426H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1429H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1836H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1823H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1426H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1814H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1429H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1836H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1836 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGGGTCCATCTTGGCCAAACT 0.423000 TSP Lung(15;0.13) 21 44 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145157659 145157659 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:145157659G>A ENST00000558170.2 - 8 2279 c.1095C>T c.(1093-1095)gcC>gcT p.A365A ZEB2_ENST00000539609.3_Silent_p.A341A|ZEB2_ENST00000409487.3_Silent_p.A365A|ZEB2_ENST00000303660.4_Silent_p.A365A NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 365 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) ACTGGGTAATGGCTGAATTAG 0.363000 21 50 0 0 1 0 0 TRGV8 6982 broad.mit.edu 37 7 38369982 38369982 + RNA SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:38369982G>T ENST00000390343.2 - 0 429 CCAGAGTCACGTTCAATTAGA 0.448000 23 78 2.48779e-11 3.3049e-11 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27497405 27497405 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:27497405C>A ENST00000356183.4 - 24 3786 c.3771G>T c.(3769-3771)cgG>cgT p.R1257R GTF3C1_ENST00000561623.1_Silent_p.R1257R NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1257 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCCGCGTCATCCGCTGCAGGG 0.562000 57 72 6.176e-18 9.78226e-18 1 1 0 PCDHB13 56123 broad.mit.edu 37 5 140595852 140595852 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:140595852G>T ENST00000341948.4 + 1 2344 c.2157G>T c.(2155-2157)gcG>gcT p.A719A NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 719 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGCAGGGCGGCCTCGGTGG 0.642000 59 65 5.7761e-15 8.60715e-15 1 1 0 BCORL1 63035 broad.mit.edu 37 X 129190077 129190077 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:129190077G>T ENST00000540052.1 + 12 5146 c.5102G>T c.(5101-5103)gGg>gTg p.G1701V BCORL1_ENST00000359304.2_Missense_Mutation_p.G1571V|BCORL1_ENST00000303743.5_Missense_Mutation_p.G1775V|BCORL1_ENST00000218147.7_Missense_Mutation_p.G1701V NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1701 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CGGCTCCTAGGGTCCGAGGTG 0.602000 17 31 0.000422831 0.000448578 1 1 0 FAM45B 55855 broad.mit.edu 37 X 129629924 129629924 + RNA SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:129629924C>T ENST00000458525.1 - 0 1015 FAM45B_ENST00000592932.1_RNA CCATTGCTCCCCTTGCAAAAG 0.473000 51 105 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97377665 97377665 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:97377665G>A ENST00000264963.4 - 5 627 c.605C>T c.(604-606)gCc>gTc p.A202V LMAN2L_ENST00000377079.4_Missense_Mutation_p.A213V|LMAN2L_ENST00000426463.2_Missense_Mutation_p.A68V|LMAN2L_ENST00000537039.1_Missense_Mutation_p.A64V|LMAN2L_ENST00000534882.1_Missense_Mutation_p.A57V NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 202 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 GCGGACAATGGCTGTGCAGCC 0.562000 37 56 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72025989 72025989 + Silent SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:72025989T>C ENST00000378743.3 - 15 3481 c.3123A>G c.(3121-3123)agA>agG p.R1041R NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1041 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTCTTCGCTCTCTGCTTGAAC 0.333000 59 116 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135382544 135382544 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:135382544T>A ENST00000442011.2 + 5 625 c.464T>A c.(463-465)gTg>gAg p.V155E TGFBI_ENST00000305126.8_Missense_Mutation_p.V155E NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 155 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCTAGGAAGTGCTGGACTCC 0.547000 4 10 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124165679 124165679 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:124165679G>T ENST00000360013.3 + 21 3620 c.3493G>T c.(3493-3495)Gag>Tag p.E1165* KALRN_ENST00000240874.3_Nonsense_Mutation_p.E1165*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.E1156* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1165 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGAGACCACAGAGGAGACTCA 0.517000 45 96 4.00472e-15 6.02703e-15 1 1 0 STK33 65975 broad.mit.edu 37 11 8479028 8479028 + Splice_Site SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:8479028T>A ENST00000447869.1 - 5 1477 c.e5-2 STK33_ENST00000396673.1_Splice_Site|STK33_ENST00000358872.3_Splice_Site|STK33_ENST00000396672.1_Splice_Site|STK33_ENST00000315204.1_Splice_Site|STK33_ENST00000534493.1_Splice_Site Q9BYT3 STK33_HUMAN serine/threonine kinase 33 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GTACATTTTCTGACATTATAT 0.323000 13 16 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29652853 29652853 + Missense_Mutation SNP A A T rs150309802 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:29652853A>T ENST00000358273.4 + 37 5234 c.4851A>T c.(4849-4851)caA>caT p.Q1617H NF1_ENST00000356175.3_Missense_Mutation_p.Q1596H|NF1_ENST00000581113.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1617 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAACTGGTCAAATCAATGGTG 0.323000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 35 84 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101150160 101150160 + Silent SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:101150160C>A ENST00000356713.4 + 10 3061 c.2772C>A c.(2770-2772)acC>acA p.T924T CNNM1_ENST00000446890.1_Silent_p.T853T|CNNM1_ENST00000370528.3_Silent_p.T803T|CNNM1_ENST00000370534.4_Silent_p.T580T NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 924 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TGCTGAGAACCTTGAGTGAGT 0.488000 4 16 0.014758 0.0150911 1 1 0 SGIP1 84251 broad.mit.edu 37 1 67148048 67148048 + Silent SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:67148048C>G ENST00000371037.4 + 15 1388 c.1311C>G c.(1309-1311)acC>acG p.T437T SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.T441T NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 437 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CGGGGACCACCAGTGGTATGT 0.617000 73 168 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7370222 7370222 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:7370222T>A ENST00000502583.1 - 6 2387 c.1823A>T c.(1822-1824)aAa>aTa p.K608I CAGE1_ENST00000338150.4_Missense_Mutation_p.K608I|CAGE1_ENST00000296742.7_Missense_Mutation_p.K472I|CAGE1_ENST00000379918.4_Missense_Mutation_p.K608I|CAGE1_ENST00000512086.1_Missense_Mutation_p.K608I NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 608 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) AGAAGCTCTTTTTATATCTGC 0.413000 14 20 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78510650 78510650 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:78510650C>A ENST00000397909.2 + 13 2908 c.2735C>A c.(2734-2736)tCc>tAc p.S912Y NAV3_ENST00000266692.7_Missense_Mutation_p.S912Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S912Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S912Y Q8IVL0 NAV3_HUMAN neuron navigator 3 912 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGCTCTTACTCCAACATCACC 0.453000 HNSCC(70;0.22) 37 71 3.78316e-11 4.99642e-11 1 1 0 TMPRSS3 64699 broad.mit.edu 37 21 43805594 43805594 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:43805594G>T ENST00000291532.3 - 6 1451 c.496C>A c.(496-498)Cgg>Agg p.R166R TMPRSS3_ENST00000380399.1_Silent_p.R250R|TMPRSS3_ENST00000398405.1_Silent_p.R164R|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.R166R|TMPRSS3_ENST00000398397.3_Silent_p.R166R NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 166 SRCR. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 AACTCCTCCCGGAACTGCCCC 0.502000 51 107 4.0306e-16 6.23161e-16 1 1 0 MAN1C1 57134 broad.mit.edu 37 1 26104810 26104810 + Missense_Mutation SNP G G A rs146718720 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:26104810G>A ENST00000374332.4 + 9 1802 c.1472G>A c.(1471-1473)cGc>cAc p.R491H MAN1C1_ENST00000263979.3_Missense_Mutation_p.R311H|MAN1C1_ENST00000374329.1_Missense_Mutation_p.R262H NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 491 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) TCATACGCCCGCTCAGGTAAC 0.597000 11 23 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3063026 3063026 + Splice_Site SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:3063026C>G ENST00000520002.1 - 32 5542 c.4987_splice c.e32+1 p.V1663_splice CSMD1_ENST00000602723.1_Splice_Site_p.V1663_splice|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Splice_Site_p.V1663_splice|CSMD1_ENST00000602557.1_Splice_Site_p.V1663_splice|CSMD1_ENST00000542608.1_Splice_Site_p.V1662_splice|CSMD1_ENST00000539096.1_Splice_Site_p.V1662_splice|CSMD1_ENST00000537824.1_Splice_Site_p.V1662_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1663 CUB 10. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACATCCTTACCGAATTCCTTT 0.363000 5 5 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148933342 148933342 + RNA SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:148933342G>T ENST00000539543.1 + 0 228 NR_027355.1 GCAGAAGGGAGGCTCCAAGAC 0.483000 3 33 0.014758 0.0150911 1 1 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020855 33020855 + RNA SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:33020855C>G ENST00000565407.2 + 0 263 RP11-19N8.2_ENST00000567619.1_RNA GGCCGATTCACCATCTCCAGG 0.522000 73 373 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11873190 11873190 + Silent SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:11873190A>G ENST00000396516.2 - 3 335 c.138T>C c.(136-138)ctT>ctC p.L46L ZC3H7A_ENST00000355758.4_Silent_p.L46L|ZC3H7A_ENST00000575170.1_5'UTR Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 46 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CTTCATTAAAAAGATTTCTCA 0.328000 23 39 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158648289 158648289 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:158648289C>A ENST00000368148.3 - 6 894 c.714G>T c.(712-714)aaG>aaT p.K238N SPTA1_ENST00000368147.3_Missense_Mutation_p.K238N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 238 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTCATTTTGCTTAGACTGAA 0.408000 9 41 0.000442599 0.000468452 1 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130215823 130215823 + Nonsense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:130215823A>T ENST00000276211.5 + 2 529 c.184A>T c.(184-186)Aag>Tag p.K62* ARHGAP36_ENST00000370922.1_Nonsense_Mutation_p.K50* NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 62 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 GGAGCGTCTGAAGCTGCAAGA 0.537000 55 114 0 0 1 0 0 MYEF2 50804 broad.mit.edu 37 15 48444471 48444471 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr15:48444471C>G ENST00000324324.7 - 11 1377 c.1098G>C c.(1096-1098)atG>atC p.M366I MYEF2_ENST00000267836.6_Missense_Mutation_p.M366I NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 366 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CTGGACCATCCATTCCCATAC 0.289000 46 79 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189975091 189975091 + Missense_Mutation SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:189975091A>G ENST00000374866.3 - 2 456 c.182T>C c.(181-183)aTc>aCc p.I61T NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 61 VWFC. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACAGACACAGATCTGACAAGG 0.478000 28 20 0 0 1 0 0 DMRTA2 63950 broad.mit.edu 37 1 50885389 50885389 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:50885389A>T ENST00000404795.3 - 3 969 c.577T>A c.(577-579)Ttt>Att p.F193I DMRTA2_ENST00000418121.1_Missense_Mutation_p.F193I NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 193 Gly-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 AACAGGTCAAACTTCTGCAAC 0.627000 4 7 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10267804 10267804 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:10267804G>T ENST00000418404.3 - 2 207 c.44C>A c.(43-45)cCc>cAc p.P15H MYH13_ENST00000252172.4_Missense_Mutation_p.P15H|MYH13_ENST00000570743.1_Missense_Mutation_p.P15H Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 15 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCGGAGGTAGGGAGCTGCTTC 0.502000 4 12 0.00024832 0.000265304 1 1 0 PPM1A 5494 broad.mit.edu 37 14 60749937 60749937 + Silent SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr14:60749937A>G ENST00000395076.4 + 2 946 c.516A>G c.(514-516)aaA>aaG p.K172K PPM1A_ENST00000325642.3_Silent_p.K245K|PPM1A_ENST00000325658.3_Silent_p.K172K|PPM1A_ENST00000529574.1_Silent_p.K172K NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 172 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) CGCTGGAGAAAGAACGAATTC 0.428000 26 80 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221900 5221900 + Missense_Mutation SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:5221900C>G ENST00000321255.1 - 1 30 c.31G>C c.(31-33)Gta>Cta p.V11L NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAGGGCTTACTGAAGTAATC 0.388000 24 28 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78211342 78211342 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:78211342G>A ENST00000361193.3 + 9 1214 c.934G>A c.(934-936)Gtg>Atg p.V312M SLC26A11_ENST00000546047.2_Missense_Mutation_p.V312M|SLC26A11_ENST00000572725.1_Missense_Mutation_p.V312M|SLC26A11_ENST00000411502.3_Missense_Mutation_p.V312M NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 312 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CGGGCTGGCCGTGGTGCCCCT 0.642000 7 11 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48955538 48955538 + Nonsense_Mutation SNP C C T rs121913303 TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr13:48955538C>T ENST00000267163.4 + 17 1792 c.1654C>T c.(1654-1656)Cga>Tga p.R552* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 552 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.R552*(5) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACATTTAGAACGATGTGAACA 0.323000 R552*(NCIH1048_LUNG) 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 15 12 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52183073 52183073 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:52183073G>T ENST00000354534.5 + 24 4468 c.4290G>T c.(4288-4290)gaG>gaT p.E1430D SCN8A_ENST00000545061.1_Missense_Mutation_p.E1389D NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1430 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGCCTGATGAGCAGCCTAAGT 0.448000 11 23 6.40141e-05 7.00444e-05 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139165293 139165293 + Missense_Mutation SNP T T G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:139165293T>G ENST00000395297.1 - 13 1595 c.1425A>C c.(1423-1425)gaA>gaC p.E475D NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 475 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCTTATAACTTCTTCATCAG 0.373000 HNSCC(54;0.14) 10 47 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121743854 121743854 + Splice_Site SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:121743854C>A ENST00000452319.1 + 13 2017 c.1956_splice c.e13-1 p.L653_splice GLI2_ENST00000314490.11_Splice_Site_p.L325_splice|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Splice_Site_p.L653_splice P10070 GLI2_HUMAN GLI family zinc finger 2 653 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TCCCCTGCAGCTGTGTCAGTC 0.657000 6 17 0.00116845 0.0012196 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31325211 31325211 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr18:31325211C>A ENST00000269197.5 + 12 5399 c.5399C>A c.(5398-5400)cCc>cAc p.P1800H NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GAAATTCCGCCCAGCTCTCCA 0.498000 56 49 5.82388e-19 9.49e-19 1 1 0 DUSP27 92235 broad.mit.edu 37 1 167095322 167095322 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:167095322C>A ENST00000361200.2 + 6 1120 c.954C>A c.(952-954)gaC>gaA p.D318E DUSP27_ENST00000271385.5_Missense_Mutation_p.D318E|DUSP27_ENST00000443333.1_Missense_Mutation_p.D318E|DUSP27_ENST00000485151.1_3'UTR Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 318 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AAGAGGAGGACGACAGCGCCA 0.667000 3 8 0.00024832 0.000265304 1 1 0 ACSS3 79611 broad.mit.edu 37 12 81472177 81472177 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:81472177C>A ENST00000548058.1 + 1 1188 c.278C>A c.(277-279)aCg>aAg p.T93K ACSS3_ENST00000261206.3_Missense_Mutation_p.T93K Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 93 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TGGACCAAAACGCTGGAGAAC 0.592000 24 50 1.85244e-09 2.35718e-09 1 1 0 NPTX1 4884 broad.mit.edu 37 17 78444747 78444747 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:78444747C>A ENST00000306773.4 - 5 1322 c.1165G>T c.(1165-1167)Ggg>Tgg p.G389W NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 389 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) TACACCTCCCCGGGGGTCAGC 0.592000 15 93 2.23348e-06 2.55497e-06 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129618909 129618909 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:129618909G>A ENST00000421865.2 + 21 2985 c.2936G>A c.(2935-2937)tGt>tAt p.C979Y NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 979 Laminin EGF-like 10. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCATTCGACTGTGAAGAGAGT 0.517000 9 20 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155030618 155030618 + Missense_Mutation SNP T T G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:155030618T>G ENST00000356955.2 + 14 1809 c.1708T>G c.(1708-1710)Tcc>Gcc p.S570A ADAM15_ENST00000368410.2_Missense_Mutation_p.S276A|ADAM15_ENST00000271836.6_Missense_Mutation_p.S570A|ADAM15_ENST00000368412.3_Missense_Mutation_p.S570A|ADAM15_ENST00000449910.2_Missense_Mutation_p.S570A|ADAM15_ENST00000368413.1_Missense_Mutation_p.S276A|ADAM15_ENST00000447332.3_Missense_Mutation_p.S554A|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.S580A|ADAM15_ENST00000360674.4_Missense_Mutation_p.S570A|ADAM15_ENST00000355956.2_Missense_Mutation_p.S570A|ADAM15_ENST00000359280.4_Missense_Mutation_p.S570A NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 570 Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CAGTTATGTGTCCTGCACCCC 0.592000 34 58 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 54060032 54060032 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:54060032G>A ENST00000312233.2 - 3 1110 c.544C>T c.(544-546)Ctg>Ttg p.L182L NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 182 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CCCAGCCCCAGGCCTCCAAGG 0.697000 3 17 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103889 168103889 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:168103889C>A ENST00000409195.1 + 9 6076 c.5987C>A c.(5986-5988)aCt>aAt p.T1996N XIRP2_ENST00000409273.1_Missense_Mutation_p.T1774N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1996N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1821 actin cytoskeleton organization cell junction actin binding p.T1996N(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGAGCAGATACTCTCAGTCAA 0.458000 21 26 1.96292e-10 2.53334e-10 1 1 0 FAM27L 284123 broad.mit.edu 37 17 21826421 21826421 + RNA SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:21826421G>T ENST00000426869.3 + 0 604 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) TGTTTCTGAGGGGCCTAGATG 0.547000 3 3 6.4e-05 7.00444e-05 1 1 0 TET1 80312 broad.mit.edu 37 10 70332915 70332915 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:70332915G>A ENST00000373644.4 + 2 1029 c.820G>A c.(820-822)Ggt>Agt p.G274S NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 274 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AGAAGAGTTGGGTTCACGAGT 0.428000 36 79 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77093181 77093181 + Missense_Mutation SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:77093181T>C ENST00000328299.3 + 4 816 c.668T>C c.(667-669)cTt>cCt p.L223P NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 223 L -> I (in dbSNP:rs1184626). protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TTTACCTTCCTTCTGGCCATG 0.423000 40 98 0 0 1 0 0 DRAM2 128338 broad.mit.edu 37 1 111663244 111663244 + Silent SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:111663244A>G ENST00000286692.4 - 6 1028 c.411T>C c.(409-411)ttT>ttC p.F137F DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Silent_p.F137F Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 137 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 TGGTCTGAACAAACATATATA 0.423000 24 48 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085895 42085895 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr19:42085895G>T ENST00000407170.2 + 4 1043 c.230G>T c.(229-231)aGg>aTg p.R77M CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.R205M|CEACAM21_ENST00000401445.2_Missense_Mutation_p.R205M Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 205 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 GACCCCATCAGGCAGGAGGAC 0.537000 4 8 0.00909568 0.00934318 1 1 0 FABP7 2173 broad.mit.edu 37 6 123102473 123102473 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr6:123102473G>C ENST00000356535.4 + 3 518 c.482G>C c.(481-483)aGg>aCg p.R161T FABP7_ENST00000368444.3_Intron O15540 FABP7_HUMAN fatty acid binding protein 7, brain 0 negative regulation of cell proliferation cytoplasm lipid binding|transporter activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 GBM - Glioblastoma multiforme(226;0.226) Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159) TCACTGGCAAGGTTCTTTAAC 0.383000 4 7 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100732572 100732572 + Splice_Site SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:100732572G>T ENST00000395996.1 + 39 6910 c.e39-1 VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000358544.2_Splice_Site Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGATTTTAAAGGTCTTCTGGG 0.284000 8 26 1.06961e-07 1.27846e-07 1 1 0 SSH3 54961 broad.mit.edu 37 11 67074511 67074511 + Splice_Site SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:67074511A>T ENST00000308127.4 + 5 642 c.e5-1 SSH3_ENST00000376757.5_Splice_Site|SSH3_ENST00000532181.1_Splice_Site|SSH3_ENST00000308298.7_Splice_Site NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GTCCCCTGCCAGCTCCCCCAG 0.622000 13 37 0 0 1 0 0 CHM 1121 broad.mit.edu 37 X 85211189 85211189 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:85211189C>A ENST00000357749.2 - 8 1164 c.1135G>T c.(1135-1137)Ggc>Tgc p.G379C CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.G231C NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 379 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TCTCCTTGGCCATATAAAGGA 0.423000 21 36 3.62473e-10 4.63843e-10 1 1 0 CARD10 29775 broad.mit.edu 37 22 37913979 37913979 + Splice_Site SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr22:37913979G>A ENST00000403299.1 - 3 588 c.373_splice c.e3+1 p.L124_splice CARD10_ENST00000251973.5_Splice_Site_p.L124_splice Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 124 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) TCCACTCACCGAGGATCATGG 0.622000 8 9 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105929812 105929812 + Missense_Mutation SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr11:105929812T>C ENST00000526793.1 - 2 172 c.13A>G c.(13-15)Atg>Gtg p.M5V KBTBD3_ENST00000531837.1_Missense_Mutation_p.M5V|KBTBD3_ENST00000531482.2_Missense_Mutation_p.M5V|KBTBD3_ENST00000534815.1_Intron NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 1 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) GAATTATCCATAGCCAATTCC 0.353000 16 22 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280529 152280529 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:152280529C>A ENST00000368799.1 - 3 6868 c.6833G>T c.(6832-6834)gGc>gTc p.G2278V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2278 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGTCTGGAGCCATCTCTTGA 0.552000 Ichthyosis 230 365 6.16916e-90 1.1892e-89 1 1 0 DUSP10 11221 broad.mit.edu 37 1 221879545 221879545 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:221879545G>A ENST00000366899.3 - 3 1313 c.1075C>T c.(1075-1077)Ccc>Tcc p.P359S DUSP10_ENST00000323825.3_Missense_Mutation_p.P17S|DUSP10_ENST00000544095.1_Missense_Mutation_p.P17S|DUSP10_ENST00000468085.1_5'UTR NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 359 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) TGGTAGAGGGGAAGATGAGTG 0.537000 53 120 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18882128 18882128 + Silent SNP T T C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:18882128T>C ENST00000446231.2 - 17 2797 c.2385A>G c.(2383-2385)ttA>ttG p.L795L SMG1_ENST00000389467.3_Silent_p.L795L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 795 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CATACCTCTGTAAAAGATCAT 0.373000 7 3 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124417997 124417997 + Silent SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:124417997C>T ENST00000409039.3 + 76 13087 c.13062C>T c.(13060-13062)acC>acT p.T4354T CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4354 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACCGCTCCACCTTGTTCACAC 0.602000 16 43 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093791 40093791 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr15:40093791G>T ENST00000299092.3 - 4 1285 c.1087C>A c.(1087-1089)Cgc>Agc p.R363S GPR176_ENST00000561100.1_Missense_Mutation_p.R364S|GPR176_ENST00000543580.1_Missense_Mutation_p.R319S NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 364 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CTACCCGAGCGTATGCTGGGT 0.567000 45 44 9.39024e-22 1.59916e-21 1 1 0 DRD3 1814 broad.mit.edu 37 3 113850171 113850171 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:113850171G>T ENST00000383673.2 - 6 1230 c.800C>A c.(799-801)cCa>cAa p.P267Q DRD3_ENST00000460779.1_Missense_Mutation_p.P267Q|DRD3_ENST00000295881.7_Missense_Mutation_p.P267Q|DRD3_ENST00000467632.1_Missense_Mutation_p.P267Q NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 267 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TTGGAAGCCTGGTCCACCCAA 0.537000 53 86 2.81731e-22 4.816e-22 1 1 0 ZCCHC12 170261 broad.mit.edu 37 X 117960206 117960206 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:117960206G>T ENST00000310164.2 + 4 1506 c.999G>T c.(997-999)ggG>ggT p.G333G NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 ACGGTCCTGGGGAGATGCGTA 0.512000 33 91 9.65021e-13 1.33686e-12 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32582465 32582465 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr21:32582465C>T ENST00000286827.3 - 12 2755 c.2284G>A c.(2284-2286)Gag>Aag p.E762K TIAM1_ENST00000541036.1_Missense_Mutation_p.E737K NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 762 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GTGAAATACTCGTGGACCCAA 0.532000 22 46 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15655727 15655727 + Silent SNP C C G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr10:15655727C>G ENST00000378076.3 - 15 1838 c.1485G>C c.(1483-1485)ctG>ctC p.L495L NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 495 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCATTGGGTGCAGCAGAAGCT 0.463000 30 81 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102533 61102533 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr13:61102533G>T ENST00000196169.3 + 11 1683 c.895G>T c.(895-897)Gga>Tga p.G299* TDRD3_ENST00000535286.1_Nonsense_Mutation_p.G392*|TDRD3_ENST00000377894.2_Nonsense_Mutation_p.G299*|TDRD3_ENST00000377881.2_Nonsense_Mutation_p.G299* NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 299 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) GCTTCATCAGGGACAATACAG 0.343000 27 50 3.00307e-07 3.54268e-07 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23523398 23523398 + Splice_Site SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:23523398A>T ENST00000296682.3 + 9 1064 c.e9-1 NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCTGAAACTCAGATCACCAAG 0.438000 HNSCC(3;0.000094) 48 98 0 0 1 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142021135 142021135 + RNA SNP A A G TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:142021135A>G ENST00000390381.3 + 0 424 ACAGCAAGTGACACTGAGCTG 0.512000 7 37 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195599255 195599255 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:195599255C>T ENST00000333602.6 - 10 1960 c.1343G>A c.(1342-1344)gGc>gAc p.G448D TNK2_ENST00000428187.1_Missense_Mutation_p.G480D|TNK2_ENST00000392400.1_Missense_Mutation_p.G448D|TNK2_ENST00000316664.3_Missense_Mutation_p.G448D|TNK2_ENST00000381916.2_Missense_Mutation_p.G511D NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 448 SH3. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GGCCGACAGGCCGGCCACGGA 0.672000 3 33 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31236900 31236900 + Missense_Mutation SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr12:31236900G>A ENST00000251758.5 + 3 549 c.298G>A c.(298-300)Ggg>Agg p.G100R DDX11_ENST00000350437.4_Missense_Mutation_p.G100R|DDX11_ENST00000228264.6_Missense_Mutation_p.G74R|DDX11_ENST00000407793.2_Missense_Mutation_p.G100R|DDX11_ENST00000542838.1_Missense_Mutation_p.G100R|DDX11_ENST00000545668.1_Missense_Mutation_p.G100R Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 100 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTCCTGCGAAGGGGCTGCAGG 0.542000 Multiple Myeloma(12;0.14) 38 58 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43626729 43626729 + Missense_Mutation SNP T T A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:43626729T>A ENST00000332857.6 - 4 1986 c.1958A>T c.(1957-1959)cAg>cTg p.Q653L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTCACCTTCTGTGCCTCCTT 0.557000 47 40 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24268276 24268276 + Nonsense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr16:24268276C>A ENST00000005284.3 + 1 1403 c.201C>A c.(199-201)tgC>tgA p.C67* NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 67 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GGAGGACCTGCTGCCTAGAAG 0.423000 27 17 4.72057e-08 5.68729e-08 1 1 0 TGFBI 7045 broad.mit.edu 37 5 135382091 135382091 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr5:135382091G>T ENST00000442011.2 + 4 527 c.366G>T c.(364-366)acG>acT p.T122T TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Silent_p.T122T NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 122 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCTGTACACGGACCGCACGG 0.612000 12 17 9.31168e-06 1.04411e-05 1 1 0 MYH1 4619 broad.mit.edu 37 17 10399330 10399330 + Missense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr17:10399330G>T ENST00000226207.5 - 35 5200 c.5106C>A c.(5104-5106)agC>agA p.S1702R CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1702 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CGATTTTCCTGCTCCTCTCTG 0.547000 22 25 9.22233e-05 0.000100668 1 1 0 OR2L5 81466 broad.mit.edu 37 1 248185774 248185774 + Frame_Shift_Del DEL T T - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr1:248185774delT ENST00000355281.1 + 1 525 c.525delT c.(523-525)cafs p.H175fs OR2L13_ENST00000366478.2_Intron NM_001258284.1 NP_001245213.1 olfactory receptor, family 2, subfamily L, member 5 CCATCAATCATTTTTTCTGTG 0.423 42 135 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 2 4 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129262103 129262103 + Frame_Shift_Del DEL G G - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr3:129262103delG ENST00000324382.2 + 1 47 c.42delG c.(40-42)tcfs p.S14fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 14 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CACCCTCCTCGACTTCCACAG 0.632 8 15 --- --- --- --- TRBJ2-5 28624 broad.mit.edu 37 7 142494808 142494808 + RNA DEL G G - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr7:142494808delG ENST00000390417.1 + 0 6 CCGTGACCAAGAGACCCAGTA 0.731 27 8 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 3253753 3253754 + Frame_Shift_Ins INS - - T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr8:3253753_3253754insT ENST00000520002.1 - 18 3113_3114 c.2558_2559insA c.(2557-2559)aagfs p.K853fs CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.K853fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.K853fs|CSMD1_ENST00000602557.1_Frame_Shift_Ins_p.K853fs|CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.K852fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.K852fs|CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.K852fs Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 853 CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGAGCGGCTGTTGTCAGTGGT 0.584 4 4 --- --- --- --- ABCA2 20 broad.mit.edu 37 9 139911033 139911033 + Frame_Shift_Del DEL C C - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:139911033delC ENST00000265662.5 - 20 3063 c.2916delG c.(2914-2916)cgfs p.R973fs ABCA2_ENST00000371605.3_Frame_Shift_Del_p.R972fs|ABCA2_ENST00000341511.6_Frame_Shift_Del_p.R973fs Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 972 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CACCAAAGCGCCGGCTCTCCA 0.692 14 40 --- --- --- --- TUBBP5 643224 broad.mit.edu 37 9 141069809 141069809 + RNA DEL T T - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr9:141069809delT ENST00000503395.1 + 0 1023 CTCCCGTCTCTTGCAGTTCTG 0.662 2 4 --- --- --- --- SPO11 23626 broad.mit.edu 37 20 55917832 55917832 + Frame_Shift_Del DEL A A - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chr20:55917832delA ENST00000371263.3 + 12 1116 c.1007delA c.(1006-1008)cafs p.Q336fs SPO11_ENST00000371260.4_Frame_Shift_Del_p.Q294fs|SPO11_ENST00000345868.4_Frame_Shift_Del_p.Q298fs NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 336 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) AAAAGGGACCAAATGAAACTT 0.338 Editing and processing nucleases 44 53 --- --- --- --- PHKA1 5255 broad.mit.edu 37 X 71915557 71915557 + Splice_Site DEL C C - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:71915557delC ENST00000373545.3 - 4 893 c.e4+1 PHKA1_ENST00000339490.3_Splice_Site|PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CTTGTACTGACCTGAGGCAGT 0.493 18 49 --- --- --- --- ATP7A 538 broad.mit.edu 37 X 77289215 77289216 + Frame_Shift_Del DEL AT AT - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:77289215_77289216delAT ENST00000341514.6 + 17 3562_3563 c.3407_3408delAT c.(3406-3408)afs p.N1136fs ATP7A_ENST00000343533.5_Frame_Shift_Del_p.N1058fs|ATP7A_ENST00000350425.4_Frame_Shift_Del_p.N139fs NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1136 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 AATAACTGGAATATAGAGGACA 0.391 39 96 --- --- --- --- SAGE1 55511 broad.mit.edu 37 X 134994106 134994106 + Frame_Shift_Del DEL G G - TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d0447f-5ca5-4218-b1c7-b833018d1e71 f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8 g.chrX:134994106delG ENST00000535938.1 + 18 2682 c.2515delG c.(2515-2517)ggfs p.G839fs SAGE1_ENST00000324447.3_Frame_Shift_Del_p.G839fs|SAGE1_ENST00000537770.1_Frame_Shift_Del_p.G463fs|SAGE1_ENST00000370709.3_Frame_Shift_Del_p.G839fs NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 839 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TCGAAGGTTTGGGCAAAGTAA 0.358 24 68 --- --- --- ---