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 CCDC88A 55704 broad.mit.edu 37 2 55646180 55646180 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:55646180C>G ENST00000436346.1 - 1 877 c.36G>C c.(34-36)caG>caC p.Q12H CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q12H|CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q12H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q12H NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 12 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TGGTCATGAACTGCTCCAGAA 0.423000 11 36 0 0 0.105934 0 0 FCGBP 8857 broad.mit.edu 37 19 40421091 40421091 + Splice_Site SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:40421091C>A ENST00000221347.6 - 5 2837 c.e5+1 NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACGTCGCTCACCAGCACTTGC 0.682000 6 40 0.0293803 0.0303729 0.029380 1 0 UGT1A1 54658 broad.mit.edu 37 2 234669637 234669637 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:234669637C>T ENST00000360418.3 + 1 704 c.704C>T c.(703-705)tCa>tTa p.S235L UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.S235L|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron P22309 UD11_HUMAN 235 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) ACCCTTGCCTCAGAATTCCTT 0.493000 9 157 0 0 0.047766 0 0 MIR30D 407033 broad.mit.edu 37 8 135817175 135817175 + RNA SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:135817175A>G ENST00000362283.1 - 0 13 NR_029599.1 CCAGTCGGGGATGTTTACAAC 0.388000 3 56 0 0 0.004672 0 0 COL11A1 1301 broad.mit.edu 37 1 103355112 103355112 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:103355112G>A ENST00000358392.2 - 59 4716 c.4399C>T c.(4399-4401)Cct>Tct p.P1467S COL11A1_ENST00000370096.3_Missense_Mutation_p.P1455S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1339S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1416S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1455 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATTAAACCAGGATGTCCCTTT 0.388000 3 45 0 0 0.004672 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180780 142180780 + RNA SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:142180780G>T ENST00000390368.2 - 0 144 TGGAATTTTGGGGTCTGAGTG 0.517000 49 173 1.00776e-21 1.45459e-21 0.048971 1 0 ZNF831 128611 broad.mit.edu 37 20 57766574 57766574 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:57766574C>T ENST00000371030.2 + 1 500 c.500C>T c.(499-501)aCg>aTg p.T167M NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 167 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CGGTCCCACACGGGTGAGAGG 0.612000 8 158 0 0 0.038147 0 0 SAMD4B 55095 broad.mit.edu 37 19 39871697 39871697 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:39871697G>A ENST00000314471.6 + 14 2951 c.1916G>A c.(1915-1917)cGc>cAc p.R639H SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R639H NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 639 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCTGTGCAGCGCACCCACTCG 0.607000 5 72 0 0 0.014758 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364702 142364702 + RNA SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:142364702A>G ENST00000390397.2 + 0 373 CTGTGCCACCAGTGATTTGCA 0.517000 12 60 0 0 0.093190 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 44 0 0 0.021553 0 0 ITPR2 3709 broad.mit.edu 37 12 26810659 26810659 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:26810659C>A ENST00000381340.3 - 18 2589 c.2173G>T c.(2173-2175)Gaa>Taa p.E725* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 725 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GTAAGAACTTCTAAGTCAGCT 0.398000 13 75 1.5842e-08 2.05409e-08 0.105934 1 0 C8orf34 116328 broad.mit.edu 37 8 69351791 69351791 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:69351791G>A ENST00000337103.4 + 1 1644 c.52G>A c.(52-54)Gac>Aac p.D18N C8orf34_ENST00000539993.1_Missense_Mutation_p.D43N|C8orf34_ENST00000348340.2_Missense_Mutation_p.D43N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D129N|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000523686.1_Missense_Mutation_p.D43N Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 43 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATTTCTCATTGACCATCTTCA 0.388000 4 29 0 0 0.014758 0 0 BMPER 168667 broad.mit.edu 37 7 34125511 34125511 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:34125511G>T ENST00000297161.2 + 14 1926 c.1552G>T c.(1552-1554)Gat>Tat p.D518Y BMPER_ENST00000426693.1_Missense_Mutation_p.D518Y NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 518 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 p.D518H(1) 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 CTTCAAGTTTGATGTGGATGA 0.483000 17 72 3.32936e-07 4.1414e-07 0.038395 1 0 NYAP2 57624 broad.mit.edu 37 2 226446708 226446708 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:226446708C>A ENST00000272907.6 + 4 988 c.575C>A c.(574-576)cCt>cAt p.P192H NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 192 AAGATTCCTCCTCCCAAACCG 0.473000 32 161 3.99451e-17 5.65889e-17 0.041601 1 0 TMEM179B 374395 broad.mit.edu 37 11 62554927 62554927 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:62554927C>T ENST00000333449.4 + 1 29 c.24C>T c.(22-24)cgC>cgT p.R8R TMEM179B_ENST00000533861.1_Silent_p.R8R|TMEM223_ENST00000527073.1_Intron NM_199337.2 NP_955369.1 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 8 integral to membrane kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 GGCTGCAGCGCGTCGAGCTTG 0.726000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 18 0 0 0.004672 0 0 HHIPL2 79802 broad.mit.edu 37 1 222715378 222715378 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:222715378C>A ENST00000343410.6 - 3 1152 c.1094G>T c.(1093-1095)gGc>gTc p.G365V NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 365 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) TCCAAACAGGCCAAAGGGATC 0.537000 20 51 4.54149e-19 6.4939e-19 0.069288 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 27 0 0 0.080935 0 0 SPATA7 55812 broad.mit.edu 37 14 88857734 88857734 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr14:88857734C>T ENST00000556553.1 + 3 588 c.29C>T c.(28-30)aCc>aTc p.T10I SPATA7_ENST00000356583.5_Missense_Mutation_p.T10I|SPATA7_ENST00000045347.7_Missense_Mutation_p.T10I|SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000393545.4_Missense_Mutation_p.T10I Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 10 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GTCAGAGCAACCTCTGTCCTT 0.318000 3 14 0 0 0.004672 0 0 TRAPPC13 80006 broad.mit.edu 37 5 64960080 64960080 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:64960080C>A ENST00000399438.3 + 12 1360 c.1015C>A c.(1015-1017)Ctg>Atg p.L339M TRAPPC13_ENST00000438419.2_Missense_Mutation_p.L340M|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.L341M|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.L334M|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.L333M NM_001093755.1|NM_024941.3 NP_001087224.1|NP_079217.2 trafficking protein particle complex 13 GACTATGGATCTGGTTTTGGA 0.413000 24 115 8.24728e-16 1.15765e-15 0.099896 1 0 NTNG1 22854 broad.mit.edu 37 1 107937934 107937934 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:107937934G>A ENST00000370067.1 + 4 1673 c.1046G>A c.(1045-1047)gGc>gAc p.G349D NTNG1_ENST00000370066.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370071.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370068.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370072.3_Missense_Mutation_p.G349D|NTNG1_ENST00000370073.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370074.4_Missense_Mutation_p.G349D|NTNG1_ENST00000542803.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370070.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370061.3_Missense_Mutation_p.G349D|NTNG1_ENST00000370065.1_Missense_Mutation_p.G349D Q9Y2I2 NTNG1_HUMAN netrin G1 349 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATCCCCAAAGGCACTGCAAAT 0.448000 21 84 0 0 0.049695 0 0 RYR1 6261 broad.mit.edu 37 19 38983277 38983277 + Splice_Site SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:38983277G>A ENST00000355481.4 + 38 6405 c.e38+1 RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCAAACCCCGTGAGGACTGG 0.627000 3 11 0 0 0.004672 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 45 0 0 0.021553 0 0 GRM4 2914 broad.mit.edu 37 6 34029800 34029800 + Missense_Mutation SNP C C T rs144674222 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr6:34029800C>T ENST00000374181.3 - 3 911 c.742G>A c.(742-744)Gtg>Atg p.V248M GRM4_ENST00000538487.1_Missense_Mutation_p.V248M|GRM4_ENST00000374177.3_Missense_Mutation_p.V179M|GRM4_ENST00000545715.1_De_novo_Start_InFrame|GRM4_ENST00000455714.2_Missense_Mutation_p.V108M|GRM4_ENST00000535756.1_Missense_Mutation_p.V115M|GRM4_ENST00000544773.1_Missense_Mutation_p.V79M NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 248 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCGATGCACACGCCCCCTGCA 0.642000 6 51 0 0 0.038147 0 0 IGKV3-7 28915 broad.mit.edu 37 2 89278494 89278494 + RNA SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:89278494G>T ENST00000390247.2 - 0 106 AGCTGAGCTGGGGCTTCCATG 0.577000 19 98 2.94398e-08 3.75358e-08 0.043863 1 0 PHACTR3 116154 broad.mit.edu 37 20 58349347 58349347 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:58349347C>T ENST00000371015.1 + 7 1443 c.976C>T c.(976-978)Cgt>Tgt p.R326C PHACTR3_ENST00000541461.1_Missense_Mutation_p.R285C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R215C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R285C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R285C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R323C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R215C NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 326 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GCTGGATGTCCGTCTGTCGAG 0.532000 3 60 0 0 0.004672 0 0 KCNH8 131096 broad.mit.edu 37 3 19575248 19575248 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr3:19575248C>T ENST00000328405.2 + 16 3247 c.2981C>T c.(2980-2982)tCa>tTa p.S994L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 994 Ser-rich. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CTTGATTATTCACCTTCCCAC 0.478000 20 112 0 0 0.043863 0 0 REV1 51455 broad.mit.edu 37 2 100019435 100019435 + Missense_Mutation SNP T T G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:100019435T>G ENST00000258428.3 - 20 3529 c.3301A>C c.(3301-3303)Act>Cct p.T1101P REV1_ENST00000393445.3_Missense_Mutation_p.T1100P NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 1101 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGGCAGAGTTTTTGCAGGA 0.413000 Direct reversal of damage 8 66 0 0 0.038147 0 0 MYLK 4638 broad.mit.edu 37 3 123337498 123337498 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr3:123337498A>T ENST00000360772.3 - 33 5713 c.5335T>A c.(5335-5337)Tgc>Agc p.C1779S MYLK_ENST00000583087.1_Missense_Mutation_p.C70S|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.C630S|MYLK_ENST00000475616.1_Missense_Mutation_p.C1830S|MYLK_ENST00000360304.3_Missense_Mutation_p.C1830S|MYLK_ENST00000359169.1_Missense_Mutation_p.C1779S|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.C1761S|MYLK_ENST00000418370.2_Missense_Mutation_p.C70S|MYLK_ENST00000578202.1_Missense_Mutation_p.C69S|MYLK-AS1_ENST00000485162.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase 1830 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCAATCTTGCAGTCAAATCTA 0.473000 9 88 0 0 0.080935 0 0 FERMT3 83706 broad.mit.edu 37 11 63990560 63990560 + Missense_Mutation SNP A A C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:63990560A>C ENST00000279227.5 + 14 1818 c.1723A>C c.(1723-1725)Aac>Cac p.N575H FERMT3_ENST00000345728.5_Missense_Mutation_p.N571H NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 575 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GGGCATCGCCAACAACCGACT 0.627000 13 53 0 0 0.105934 0 0 TH 7054 broad.mit.edu 37 11 2189733 2189733 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:2189733C>A ENST00000381178.1 - 4 586 c.568G>T c.(568-570)Gcg>Tcg p.A190S TH_ENST00000333684.5_Missense_Mutation_p.A163S|TH_ENST00000352909.3_Missense_Mutation_p.A159S|TH_ENST00000381175.1_Missense_Mutation_p.A186S NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 190 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) TTGGGCCCCGCGGGGCTGCGC 0.687000 3 28 0.004672 0.00492977 0.004672 1 0 UBE4B 10277 broad.mit.edu 37 1 10197176 10197176 + Missense_Mutation SNP T T G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:10197176T>G ENST00000377157.3 + 16 2602 c.1541T>G c.(1540-1542)tTt>tGt p.F514C UBE4B_ENST00000253251.8_Missense_Mutation_p.F630C|UBE4B_ENST00000343090.6_Missense_Mutation_p.F759C NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 759 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GAGTGCTTCTTTCTCACCCTG 0.468000 9 94 0 0 0.047766 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877931 39877931 + Nonsense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:39877931C>G ENST00000530275.1 + 1 1781 c.1586C>G c.(1585-1587)tCa>tGa p.S529* MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 529 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GATGTTACCTCAGGACCTGAA 0.393000 7 143 0 0 0.047766 0 0 MTUS2 23281 broad.mit.edu 37 13 29600083 29600083 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:29600083A>T ENST00000431530.3 + 1 1336 c.1278A>T c.(1276-1278)ccA>ccT p.P426P NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 416 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 AAATTTCACCATGTGCAGGTG 0.512000 9 41 0 0 0.047766 0 0 NOL4 8715 broad.mit.edu 37 18 31803075 31803075 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr18:31803075G>T ENST00000261592.5 - 1 440 c.143C>A c.(142-144)aCg>aAg p.T48K RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.T48K NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 48 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GGCGTTGTCCGTGGAGCTCGA 0.597000 9 71 3.86212e-05 4.54542e-05 0.069234 1 0 ITGA10 8515 broad.mit.edu 37 1 145534172 145534172 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:145534172G>A ENST00000369304.3 + 14 1852 c.1677G>A c.(1675-1677)ctG>ctA p.L559L ITGA10_ENST00000538811.1_Silent_p.L428L|ITGA10_ENST00000539363.1_Silent_p.L416L NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 559 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCTGATCTGAACCAAGATG 0.582000 10 180 0 0 0.080935 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249937 140249937 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:140249937G>A ENST00000398640.2 + 1 1249 c.1249G>A c.(1249-1251)Gtg>Atg p.V417M PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGAGAACGTGTGGGCCTA 0.622000 12 176 0 0 0.093190 0 0 CLYBL 171425 broad.mit.edu 37 13 100511246 100511246 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:100511246G>T ENST00000376355.3 + 3 412 c.381G>T c.(379-381)cgG>cgT p.R127R CLYBL_ENST00000339105.4_Silent_p.R127R|CLYBL_ENST00000444838.2_Silent_p.R127R|CLYBL_ENST00000376354.1_Silent_p.R127R|CLYBL_ENST00000376360.1_Silent_p.R127R NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 127 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGCAATCCCGGGTCCTTCCTT 0.488000 9 28 2.74318e-10 3.74738e-10 0.058154 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17699682 17699682 + Translation_Start_Site SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:17699682T>A ENST00000399080.2 - 1 24 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGGAGAGACATGACAGCGAAT 0.622000 14 95 0 0 0.028581 0 0 ABCA1 19 broad.mit.edu 37 9 107618283 107618283 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:107618283G>A ENST00000423487.2 - 8 1103 c.807C>T c.(805-807)ccC>ccT p.P269P ABCA1_ENST00000374736.3_Intron O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 0 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCATCATGTTGGGCTTTGCAT 0.423000 9 39 0 0 0.058154 0 0 FLG 2312 broad.mit.edu 37 1 152282874 152282874 + Missense_Mutation SNP G G C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:152282874G>C ENST00000368799.1 - 3 4523 c.4488C>G c.(4486-4488)agC>agG p.S1496R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1496 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) TTCCTCCTCTGCTTGACCCCG 0.577000 Ichthyosis 219 475 0 0 0.048971 0 0 NEURL1 9148 broad.mit.edu 37 10 105350046 105350046 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:105350046C>T ENST00000369780.4 + 6 2051 c.1642C>T c.(1642-1644)Cgc>Tgc p.R548C SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.R531C NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 548 nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTGTGGCCTGCGCCTCAAGAA 0.622000 7 40 0 0 0.029380 0 0 DIDO1 11083 broad.mit.edu 37 20 61513083 61513083 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:61513083C>T ENST00000266070.4 - 16 4550 c.4225G>A c.(4225-4227)Gag>Aag p.E1409K DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1409 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.E1409*(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTTCCACCTCGTGGCGCCGC 0.602000 13 108 0 0 0.020292 0 0 TGM3 7053 broad.mit.edu 37 20 2293605 2293605 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:2293605G>T ENST00000381458.5 + 5 665 c.602G>T c.(601-603)cGt>cTt p.R201L NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 201 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.R201H(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AATTTCCGCCGTGACGCTGCT 0.463000 11 78 0.000978159 0.00108448 0.080935 1 0 PAPSS1 9061 broad.mit.edu 37 4 108578069 108578069 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr4:108578069A>T ENST00000265174.4 - 7 1150 c.878T>A c.(877-879)tTt>tAt p.F293Y PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 293 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) AAGACAATCAAAATGAAGGCA 0.393000 16 48 0 0 0.033300 0 0 DOCK8 81704 broad.mit.edu 37 9 371489 371489 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:371489C>T ENST00000432829.2 + 17 2042 c.1726C>T c.(1726-1728)Cac>Tac p.H576Y DOCK8_ENST00000453981.1_Missense_Mutation_p.H644Y|DOCK8_ENST00000469391.1_Missense_Mutation_p.H576Y|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000382329.1_Missense_Mutation_p.H111Y NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 644 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGTAAATCACCACCTCCTGTT 0.438000 5 65 0 0 0.021553 0 0 TRPM8 79054 broad.mit.edu 37 2 234871956 234871956 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:234871956C>G ENST00000324695.4 + 13 1724 c.1684C>G c.(1684-1686)Caa>Gaa p.Q562E TRPM8_ENST00000433712.2_Missense_Mutation_p.Q250E NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 562 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GCACCCCCTGCAAGCTCTCTT 0.502000 3 43 0 0 0.009096 0 0 OR4A5 81318 broad.mit.edu 37 11 51412273 51412273 + Silent SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:51412273C>A ENST00000319760.6 - 1 175 c.123G>T c.(121-123)ctG>ctT p.L41L NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CCACAATGAGCAGGTTCCCCA 0.448000 12 32 2.27111e-07 2.8482e-07 0.093190 1 0 SRPX 8406 broad.mit.edu 37 X 38020261 38020261 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:38020261C>A ENST00000378533.3 - 6 806 c.700G>T c.(700-702)Gac>Tac p.D234Y SRPX_ENST00000343800.6_Missense_Mutation_p.D221Y|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.D234Y|SRPX_ENST00000432886.2_Missense_Mutation_p.D175Y|SRPX_ENST00000544439.1_Missense_Mutation_p.D214Y NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 234 HYR. cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 ATCTTGTGGTCTCCTTCTGGA 0.418000 8 52 0.000157383 0.00018105 0.038147 1 0 TRIB1 10221 broad.mit.edu 37 8 126445584 126445584 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:126445584A>T ENST00000311922.3 + 2 968 c.386A>T c.(385-387)gAc>gTc p.D129V TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 129 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CACTACCAGGACAAAATCAGG 0.512000 30 245 0 0 0.059317 0 0 OR5T2 219464 broad.mit.edu 37 11 55999948 55999948 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:55999948G>T ENST00000313264.4 - 1 789 c.714C>A c.(712-714)ctC>ctA p.L238L NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 238 L -> V (in dbSNP:rs12221615). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) CAAAGTAGAAGAGTAGAAGCT 0.428000 14 87 4.93089e-13 6.79663e-13 0.020292 1 0 HNF4A 3172 broad.mit.edu 37 20 43034755 43034755 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:43034755C>T ENST00000316099.3 + 2 262 c.173C>T c.(172-174)gCc>gTc p.A58V HNF4A_ENST00000443598.2_Missense_Mutation_p.A58V|HNF4A_ENST00000415691.1_Missense_Mutation_p.A58V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A36V NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 58 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTGTCAGCGCCCTGTGTGCC 0.632000 37 133 0 0 0.074837 0 0 POTEF 728378 broad.mit.edu 37 2 130832520 130832520 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:130832520A>T ENST00000357462.5 - 15 2618 c.2525T>A c.(2524-2526)cTg>cAg p.L842Q POTEF_ENST00000409914.2_Missense_Mutation_p.L842Q A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 842 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 AGAGGTGTACAGGGACAGCAC 0.587000 41 428 0 0 0.111260 0 0 OR56B1 387748 broad.mit.edu 37 11 5758467 5758467 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:5758467G>A ENST00000317121.3 + 1 787 c.721G>A c.(721-723)Gaa>Aaa p.E241K TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GAACTCAGCTGAAGCTGCAGC 0.423000 21 83 0 0 0.049695 0 0 VPS33B 26276 broad.mit.edu 37 15 91548985 91548985 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr15:91548985C>T ENST00000333371.3 - 13 1322 c.969G>A c.(967-969)atG>atA p.M323I VPS33B_ENST00000535843.1_Missense_Mutation_p.M232I|VPS33B_ENST00000535906.1_Missense_Mutation_p.M296I NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 323 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) CGAAATTCTTCATCTGCTTAA 0.567000 9 85 0 0 0.058154 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638205 149638205 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:149638205G>T ENST00000370401.2 + 4 670 c.360G>T c.(358-360)gcG>gcT p.A120A MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000432680.2_Silent_p.A95A|MAMLD1_ENST00000426613.2_Silent_p.A95A|MAMLD1_ENST00000262858.5_Silent_p.A120A Q13495 MAMD1_HUMAN mastermind-like domain containing 1 120 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CTAGCCCTGCGGCTATGGGAG 0.512000 14 104 2.62699e-14 3.6539e-14 0.024245 1 0 ACSM5 54988 broad.mit.edu 37 16 20430747 20430747 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr16:20430747G>A ENST00000331849.4 + 4 760 c.613G>A c.(613-615)Gaa>Aaa p.E205K ACSM5_ENST00000575584.1_Missense_Mutation_p.E205K NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 205 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GAACTTCAGGGAACTCCTCCG 0.517000 12 37 0 0 0.105934 0 0 GDE1 51573 broad.mit.edu 37 16 19514835 19514835 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr16:19514835T>C ENST00000353258.3 - 6 1133 c.953A>G c.(952-954)tAt>tGt p.Y318C NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 318 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 GTCAGTGATATAGCTGGAACC 0.458000 OREG0023659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 77 0 0 0.093190 0 0 STXBP5 134957 broad.mit.edu 37 6 147581750 147581750 + Splice_Site SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr6:147581750G>T ENST00000367481.3 + 5 539 c.e5-1 STXBP5_ENST00000321680.6_Splice_Site|STXBP5_ENST00000179882.6_Splice_Site|STXBP5_ENST00000546097.1_Splice_Site|STXBP5_ENST00000367480.3_Splice_Site NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TTCTCTTGCAGGGTTACATTT 0.353000 7 32 0.00198382 0.00213749 0.029380 1 0 KRT6B 3854 broad.mit.edu 37 12 52845437 52845437 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:52845437C>A ENST00000252252.3 - 1 473 c.426G>T c.(424-426)caG>caT p.Q142H NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 142 Head. ectoderm development keratin filament structural constituent of cytoskeleton p.Q142H(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TCAGGAGACTCTGGTTGACAG 0.622000 12 160 0.00136819 0.00148464 0.093190 1 0 SIPA1 6494 broad.mit.edu 37 11 65408900 65408900 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:65408900G>A ENST00000394224.3 + 2 804 c.508G>A c.(508-510)Ggg>Agg p.G170R SIPA1_ENST00000534313.1_Missense_Mutation_p.G170R|SIPA1_ENST00000527525.1_Missense_Mutation_p.G170R|SIPA1_ENST00000394227.3_Missense_Mutation_p.G170R NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 170 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GTGTGAGCTCGGGGGTGAGGG 0.677000 6 77 0 0 0.029380 0 0 SALL4 57167 broad.mit.edu 37 20 50407055 50407055 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:50407055G>A ENST00000217086.4 - 2 2078 c.1967C>T c.(1966-1968)aCg>aTg p.T656M SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 656 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGCAGGGGCGTGTTGGGAAT 0.547000 5 64 0 0 0.021553 0 0 DLX4 1748 broad.mit.edu 37 17 48051138 48051138 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr17:48051138G>A ENST00000240306.3 + 3 849 c.554G>A c.(553-555)gGg>gAg p.G185E DLX4_ENST00000411890.2_Missense_Mutation_p.G113E NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 185 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 GGGCAGGAAGGGGACTTCCCT 0.557000 37 127 0 0 0.064281 0 0 IFT88 8100 broad.mit.edu 37 13 21205212 21205212 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:21205212G>T ENST00000382778.4 + 17 2502 c.1384G>T c.(1384-1386)Gca>Tca p.A462S IFT88_ENST00000351808.5_Missense_Mutation_p.A453S|IFT88_ENST00000537103.1_Missense_Mutation_p.A434S|IFT88_ENST00000319980.6_Missense_Mutation_p.A462S|IFT88_ENST00000461115.1_3'UTR Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 462 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AAGTGCAGCTGCAACCAATCT 0.343000 11 69 2.80697e-09 3.7023e-09 0.080935 1 0 FAM9A 171482 broad.mit.edu 37 X 8759376 8759376 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:8759376A>T ENST00000543214.1 - 9 1110 c.975T>A c.(973-975)agT>agA p.S325R FAM9A_ENST00000381003.3_Missense_Mutation_p.S325R NM_001171186.1 NP_001164657.1 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 325 nucleolus endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) CACTTTCTTCACTGGAAGAAA 0.343000 4 24 0 0 0.009096 0 0 OR2F1 26211 broad.mit.edu 37 7 143657663 143657663 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:143657663G>T ENST00000392899.1 + 1 637 c.600G>T c.(598-600)atG>atT p.M200I NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TCACCATCATGGTGTCTAGCA 0.473000 19 74 8.34094e-07 1.02093e-06 0.049695 1 0 ZNF813 126017 broad.mit.edu 37 19 53989968 53989968 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:53989968A>G ENST00000396403.4 + 3 226 c.98A>G c.(97-99)tAc>tGc p.Y33C ZNF813_ENST00000396421.4_Missense_Mutation_p.Y33C NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AGGACTCTATACAGGGACGTG 0.473000 22 131 0 0 0.091800 0 0 CYTH4 27128 broad.mit.edu 37 22 37707058 37707058 + Missense_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr22:37707058T>A ENST00000248901.6 + 10 1025 c.838T>A c.(838-840)Tgg>Agg p.W280R NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 280 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GAAACGGCGCTGGTTCATCCT 0.637000 12 129 0 0 0.105934 0 0 DEFA4 1669 broad.mit.edu 37 8 6793542 6793542 + Nonstop_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:6793542T>A ENST00000297435.2 - 3 418 c.294A>T c.(292-294)taA>taT p.*98Y NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 0 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CAGCAGAACGTTAATCGACAC 0.488000 15 93 0 0 0.024245 0 0 M1AP 130951 broad.mit.edu 37 2 74834325 74834325 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:74834325C>T ENST00000290536.5 - 4 568 c.452G>A c.(451-453)gGa>gAa p.G151E M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.G151E|M1AP_ENST00000536235.1_Missense_Mutation_p.G151E NM_138804.3 NP_620159.2 meiosis 1 associated protein CACCTCTTTTCCAGGCTGAGA 0.443000 6 70 0 0 0.021553 0 0 NFASC 23114 broad.mit.edu 37 1 204953227 204953227 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:204953227G>T ENST00000367172.4 + 22 2871 c.2543G>T c.(2542-2544)cGc>cTc p.R848L NFASC_ENST00000513543.1_Missense_Mutation_p.R844L|NFASC_ENST00000539706.1_Missense_Mutation_p.R844L|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.R848L|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.R844L|NFASC_ENST00000404076.1_Missense_Mutation_p.R827L|NFASC_ENST00000404907.1_Missense_Mutation_p.R844L|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.R833L|NFASC_ENST00000367170.4_Missense_Mutation_p.R848L|NFASC_ENST00000338586.6_Missense_Mutation_p.R848L O94856 NFASC_HUMAN neurofascin 848 Fibronectin type-III 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGTGGAACCGCGTCTACTCC 0.587000 4 63 0.00116845 0.00127694 0.021553 1 0 SLC30A1 7779 broad.mit.edu 37 1 211749082 211749082 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:211749082T>C ENST00000367001.4 - 2 1301 c.1172A>G c.(1171-1173)gAa>gGa p.E391G NM_021194.2 NP_067017.2 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), member 1 391 cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1) 11 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) TGTTGGATCTTCACATTTTAT 0.388000 3 65 0 0 0.004672 0 0 WRN 7486 broad.mit.edu 37 8 30938527 30938527 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:30938527A>T ENST00000298139.5 + 9 1233 c.984A>T c.(982-984)gtA>gtT p.V328V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 328 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTGGGGGAGTACAACAGAAAC 0.368000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 6 37 0 0 0.029380 0 0 UNC5A 90249 broad.mit.edu 37 5 176301080 176301080 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:176301080G>T ENST00000329542.4 + 7 1272 c.998G>T c.(997-999)gGg>gTg p.G333V UNC5A_ENST00000261961.3_Missense_Mutation_p.G293V NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 333 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGAAGGAGGGGCTGGACTCA 0.632000 8 39 5.4927e-09 7.18277e-09 0.047766 1 0 OR1K1 392392 broad.mit.edu 37 9 125562995 125562995 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:125562995G>A ENST00000277309.2 + 1 626 c.594G>A c.(592-594)ctG>ctA p.L198L NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 ACATCCAGCTGCTCATCTTCA 0.617000 13 78 0 0 0.105934 0 0 DGKK 139189 broad.mit.edu 37 X 50213491 50213491 + RNA SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:50213491G>T ENST00000376025.2 - 0 246 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CAGGGACCTGGAGCAAGCTCT 0.672000 12 133 0.000978159 0.00108448 0.080935 1 0 ASMT 438 broad.mit.edu 37 X 1746614 1746614 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:1746614C>T ENST00000381241.3 + 4 592 c.393C>T c.(391-393)taC>taT p.Y131Y ASMT_ENST00000381229.4_Silent_p.Y131Y|ASMT_ENST00000381233.3_Silent_p.Y131Y NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 131 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGAACCAGTACCTGGAGACGT 0.378000 15 157 0 0 0.020292 0 0 DNAJC3 5611 broad.mit.edu 37 13 96416145 96416145 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:96416145A>G ENST00000602402.1 + 9 1130 c.1013A>G c.(1012-1014)gAc>gGc p.D338G DNAJC3_ENST00000376795.6_Missense_Mutation_p.D287G NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 338 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) ATGGAACCTGACAATGTGAAT 0.393000 10 74 0 0 0.058154 0 0 PAK7 57144 broad.mit.edu 37 20 9546635 9546635 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:9546635C>T ENST00000378429.3 - 6 1933 c.1387G>A c.(1387-1389)Gta>Ata p.V463I PAK7_ENST00000378423.1_Missense_Mutation_p.V463I|PAK7_ENST00000353224.5_Missense_Mutation_p.V463I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 463 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.V463L(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCGATGCATACGATGCCGGTT 0.522000 6 143 0 0 0.029380 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256140 15256140 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:15256140C>G ENST00000378116.4 - 8 1453 c.1447G>C c.(1447-1449)Gat>Cat p.D483H NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 483 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CTGTAGTCATCATTGCCCGAG 0.483000 15 83 0 0 0.020292 0 0 QPCT 25797 broad.mit.edu 37 2 37594376 37594376 + Splice_Site SNP C C G rs151306583 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:37594376C>G ENST00000338415.3 + 4 706 c.546_splice c.e4-1 p.T183_splice QPCT_ENST00000537448.1_Splice_Site_p.T134_splice NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 183 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) TTTTACCAGACTGTTTCAGAC 0.363000 11 76 0 0 0.105934 0 0 ITGA5 3678 broad.mit.edu 37 12 54801969 54801969 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:54801969C>A ENST00000293379.4 - 7 1003 c.742G>T c.(742-744)Gag>Tag p.E248* RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 248 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 ATCAGGTACTCGGGGTAATAA 0.547000 13 45 1.49906e-05 1.80595e-05 0.020292 1 0 EYS 346007 broad.mit.edu 37 6 66204723 66204723 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr6:66204723C>A ENST00000503581.1 - 4 1118 c.581G>T c.(580-582)tGg>tTg p.W194L EYS_ENST00000370616.2_Missense_Mutation_p.W194L|EYS_ENST00000370618.3_Missense_Mutation_p.W194L|EYS_ENST00000370621.3_Missense_Mutation_p.W194L|EYS_ENST00000342421.5_Missense_Mutation_p.W194L|EYS_ENST00000393380.2_Missense_Mutation_p.W194L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 194 EGF-like 1. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TGTCTTGCTCCAAGCTTCACT 0.418000 5 20 3.59834e-05 4.26779e-05 0.021553 1 0 CPB2 1361 broad.mit.edu 37 13 46632454 46632454 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:46632454G>T ENST00000181383.4 - 9 875 c.859C>A c.(859-861)Cca>Aca p.P287T CPB2_ENST00000439329.3_Missense_Mutation_p.P250T|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 287 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) TTCACTTCTGGTTCTGACTCA 0.418000 6 87 0.00116845 0.00127694 0.021553 1 0 PSG11 5680 broad.mit.edu 37 19 43523108 43523108 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:43523108C>G ENST00000401740.1 - 3 626 c.523G>C c.(523-525)Gac>Cac p.D175H PSG11_ENST00000403486.1_Missense_Mutation_p.D53H|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.D53H|PSG11_ENST00000320078.7_Missense_Mutation_p.D175H Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 175 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TAGCTTGCGTCCGGAGTCTCA 0.527000 26 336 0 0 0.083992 0 0 SLC45A2 51151 broad.mit.edu 37 5 33964049 33964049 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:33964049C>A ENST00000382102.3 - 3 692 c.635G>T c.(634-636)gGt>gTt p.G212V SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000342059.3_Missense_Mutation_p.G153V|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.G212V NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 212 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 GAATTCTGTACCCAACAGTCT 0.473000 14 47 3.27435e-08 4.1403e-08 0.020292 1 0 ADNP2 22850 broad.mit.edu 37 18 77895840 77895840 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr18:77895840C>G ENST00000262198.4 + 4 2999 c.2544C>G c.(2542-2544)caC>caG p.H848Q NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 848 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CTGGGATACACTCCAAGTCAC 0.567000 13 83 0 0 0.024245 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944882 43944882 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:43944882C>T ENST00000389420.3 - 2 282 c.283G>A c.(283-285)Gcc>Acc p.A95T ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A95T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 95 proteinaceous extracellular matrix zinc ion binding p.A95T(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GATGCATCGGCGGTCAGGTTC 0.677000 7 74 0 0 0.029380 0 0 GABRQ 55879 broad.mit.edu 37 X 151815621 151815621 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:151815621C>A ENST00000370306.2 + 4 539 c.519C>A c.(517-519)taC>taA p.Y173* NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 173 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.Y173Y(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CGGTGCGGTACGGCATCCGGT 0.517000 5 49 5.9392e-07 7.32821e-07 0.021553 1 0 FRG1B 284802 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 4 40 0 0 0.009096 0 0 YARS2 51067 broad.mit.edu 37 12 32908428 32908428 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:32908428C>G ENST00000324868.8 - 1 408 c.381G>C c.(379-381)aaG>aaC p.K127N NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 127 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CCTCGCGTTCCTTGGTACGGC 0.682000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 40 0 0 0.014758 0 0 USH2A 7399 broad.mit.edu 37 1 216251437 216251437 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:216251437C>G ENST00000366943.2 - 27 5952 c.5566G>C c.(5566-5568)Gaa>Caa p.E1856Q RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1856Q|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1856 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTACCTTGTTCCAAACACAAA 0.458000 HNSCC(13;0.011) 6 88 0 0 0.029380 0 0 UNC5A 90249 broad.mit.edu 37 5 176304986 176304986 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:176304986G>A ENST00000329542.4 + 11 2001 c.1727G>A c.(1726-1728)gGc>gAc p.G576D UNC5A_ENST00000261961.3_Missense_Mutation_p.G536D NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 576 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCAGCTGGGCCGCTTTGCC 0.667000 15 36 0 0 0.020292 0 0 PDE1C 5137 broad.mit.edu 37 7 31862712 31862712 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:31862712C>T ENST00000396184.3 - 15 1761 c.1557G>A c.(1555-1557)gaG>gaA p.E519E PDE1C_ENST00000396182.2_Silent_p.E519E|PDE1C_ENST00000321453.7_Silent_p.E519E|PDE1C_ENST00000396191.1_Silent_p.E519E|PDE1C_ENST00000396193.1_Silent_p.E579E NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 519 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CCCTCCATCTCTCCCGATTGA 0.468000 12 136 0 0 0.024245 0 0 LIMS1 3987 broad.mit.edu 37 2 109292448 109292448 + Silent SNP C C T rs111779374 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:109292448C>T ENST00000393310.1 + 6 776 c.609C>T c.(607-609)cgC>cgT p.R203R LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000409441.1_Silent_p.R240R|LIMS1_ENST00000544547.1_Silent_p.R215R|LIMS1_ENST00000332345.6_Silent_p.R203R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000338045.3_Silent_p.R203R NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 203 LIM zinc-binding 4. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 TCGAAGGGCGCGTGGTGAACG 0.537000 8 35 0 0 0.038147 0 0 AGBL2 79841 broad.mit.edu 37 11 47712126 47712126 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:47712126G>A ENST00000525123.1 - 10 1418 c.1133C>T c.(1132-1134)aCg>aTg p.T378M AGBL2_ENST00000357610.3_Missense_Mutation_p.T378M|AGBL2_ENST00000298861.4_Missense_Mutation_p.T378M|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.T340M NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 378 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 AATGGTCCACGTGAGACAGTA 0.468000 22 98 0 0 0.083992 0 0 TJP3 27134 broad.mit.edu 37 19 3736270 3736270 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:3736270G>A ENST00000541714.2 + 11 1697 c.1235G>A c.(1234-1236)gGc>gAc p.G412D TJP3_ENST00000539908.2_Missense_Mutation_p.G376D|TJP3_ENST00000262968.9_Missense_Mutation_p.G445D|TJP3_ENST00000382008.3_Missense_Mutation_p.G426D|TJP3_ENST00000589378.1_Missense_Mutation_p.G421D|TJP3_ENST00000587686.1_Missense_Mutation_p.G431D NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 426 PDZ 3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCAGGCGGGCAGCCCGGCC 0.697000 3 30 0 0 0.009096 0 0 USP35 57558 broad.mit.edu 37 11 77918630 77918630 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:77918630C>T ENST00000529308.1 + 8 1707 c.1446C>T c.(1444-1446)acC>acT p.T482T USP35_ENST00000530267.1_Silent_p.T50T|USP35_ENST00000526425.1_Silent_p.T213T|USP35_ENST00000441408.2_Silent_p.T68T|USP35_ENST00000530535.1_Intron NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 482 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CCCTGATGACCAAGCTGCAGT 0.582000 17 104 0 0 0.038395 0 0 NELL1 4745 broad.mit.edu 37 11 21592368 21592368 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:21592368T>C ENST00000298925.5 + 19 2276 c.2123T>C c.(2122-2124)cTa>cCa p.L708P NELL1_ENST00000325319.5_Missense_Mutation_p.L623P|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.L633P|NELL1_ENST00000357134.5_Missense_Mutation_p.L680P Q92832 NELL1_HUMAN NEL-like 1 (chicken) 680 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGTGCTGACCTATTCTGTTGC 0.438000 16 82 0 0 0.028581 0 0 BTC 685 broad.mit.edu 37 4 75673268 75673268 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr4:75673268C>G ENST00000395743.3 - 5 880 c.520G>C c.(520-522)Gag>Cag p.E174Q NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 174 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) ATATTTGTCTCTTCAATATCT 0.338000 3 52 0 0 0.004672 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177188 89177188 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:89177188G>T ENST00000561129.2 + 1 234 c.104G>T c.(103-105)aGa>aTa p.R35I TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R35I Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 35 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 ATCATGTCGAGAAATAACGCA 0.582000 10 42 2.80697e-09 3.7023e-09 0.080935 1 0 ATP2A2 488 broad.mit.edu 37 12 110783811 110783811 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:110783811C>T ENST00000395494.2 + 18 3229 c.2666C>T c.(2665-2667)tCc>tTc p.S889F ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S916F P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 916 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGCAGCTTGTCCGAAAACCAG 0.572000 13 73 0 0 0.093190 0 0 RMND5B 64777 broad.mit.edu 37 5 177571094 177571094 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:177571094C>G ENST00000515098.1 + 8 1030 c.679C>G c.(679-681)Cgg>Ggg p.R227G RMND5B_ENST00000313386.4_Missense_Mutation_p.R227G|RMND5B_ENST00000542098.1_Missense_Mutation_p.R214G Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 227 p.R227W(1) endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCTTTGCTCGGCTGCACCA 0.637000 5 67 0 0 0.014758 0 0 CLEC11A 6320 broad.mit.edu 37 19 51228604 51228604 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:51228604C>T ENST00000599973.1 + 4 904 c.901C>T c.(901-903)Ccc>Tcc p.P301S CLEC11A_ENST00000250340.4_Silent_p.S284S Q9Y240 CLC11_HUMAN C-type lectin domain family 11, member A 164 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 7 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) ATCCGCTCAGCCCGGACCAGC 0.701000 6 15 0 0 0.029380 0 0 CAMK2B 816 broad.mit.edu 37 7 44298523 44298523 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:44298523G>A ENST00000395749.2 - 4 299 c.223C>T c.(223-225)Cgt>Tgt p.R75C CAMK2B_ENST00000358707.3_Missense_Mutation_p.R75C|CAMK2B_ENST00000395747.2_Missense_Mutation_p.R75C|CAMK2B_ENST00000440254.2_Missense_Mutation_p.R75C|CAMK2B_ENST00000353625.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000350811.3_Missense_Mutation_p.R75C|CAMK2B_ENST00000457475.1_Missense_Mutation_p.R75C|CAMK2B_ENST00000346990.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000258682.6_Missense_Mutation_p.R75C|CAMK2B_ENST00000347193.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000502837.2_Intron NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 75 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TCGTGGAGACGCACTGTGGGG 0.612000 8 13 0 0 0.047766 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290803 141290803 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:141290803G>T ENST00000247452.3 - 3 1318 c.971C>A c.(970-972)aCt>aAt p.T324N NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 324 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ACTAGGAACAGTGTTGTTCAG 0.453000 HNSCC(46;0.14) 27 103 2.79863e-10 3.7893e-10 0.099896 1 0 CCSER1 401145 broad.mit.edu 37 4 91230499 91230499 + Missense_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr4:91230499T>A ENST00000509176.1 + 2 1352 c.1064T>A c.(1063-1065)cTa>cAa p.L355Q CCSER1_ENST00000432775.2_Missense_Mutation_p.L355Q|CCSER1_ENST00000333691.8_Missense_Mutation_p.L355Q NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 ATTGCTGAACTACCTGCTACA 0.408000 15 53 0 0 0.033300 0 0 MYH3 4621 broad.mit.edu 37 17 10537453 10537453 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr17:10537453A>G ENST00000583535.1 - 32 4490 c.4403T>C c.(4402-4404)cTg>cCg p.L1468P MYH3_ENST00000226209.7_Missense_Mutation_p.L1468P NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1468 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GGATGCCTCCAGCTCTGCTTG 0.507000 5 103 0 0 0.021553 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672764 141672764 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:141672764G>T ENST00000547270.1 - 1 809 c.726C>A c.(724-726)caC>caA p.H242Q NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 242 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GGGCTTTAATGTGGGCCTCCA 0.507000 16 50 2.31682e-05 2.76933e-05 0.024245 1 0 ZNF511 118472 broad.mit.edu 37 10 135125252 135125252 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:135125252G>T ENST00000359035.3 + 5 590 c.587G>T c.(586-588)gGa>gTa p.G196V ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.G196V|ZNF511_ENST00000368554.4_Missense_Mutation_p.G131V Q8NB15 ZN511_HUMAN zinc finger protein 511 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) GGGGACAGTGGAGAGCGGTCA 0.627000 10 62 0.000673444 0.000763237 0.069234 1 0 CNST 163882 broad.mit.edu 37 1 246810486 246810486 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:246810486A>G ENST00000366513.4 + 9 1252 c.983A>G c.(982-984)cAt>cGt p.H328R CNST_ENST00000366512.3_Missense_Mutation_p.H328R|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 328 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GAAAGCCAACATACAGTGGAG 0.433000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 90 0 0 0.069288 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 62 0 0 0.009096 0 0 DACH2 117154 broad.mit.edu 37 X 85769325 85769325 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:85769325C>A ENST00000373131.1 + 2 695 c.532C>A c.(532-534)Cag>Aag p.Q178K DACH2_ENST00000508860.1_Missense_Mutation_p.Q24K|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.Q191K NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GGGAGTGTTGCAGGAAAATGC 0.448000 6 22 0.0293803 0.0303729 0.029380 1 0 ZNF845 91664 broad.mit.edu 37 19 53854728 53854728 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:53854728G>T ENST00000458035.1 + 4 917 c.800G>T c.(799-801)gGc>gTc p.G267V ZNF845_ENST00000595091.1_Missense_Mutation_p.G267V NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TGTCACACTGGCAAGAAACCT 0.393000 7 61 2.7689e-08 3.56001e-08 0.029380 1 0 HOXB1 3211 broad.mit.edu 37 17 46607756 46607756 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr17:46607756C>G ENST00000239174.6 - 1 603 c.511G>C c.(511-513)Gaa>Caa p.E171Q HOXB1_ENST00000577092.1_Missense_Mutation_p.E171Q NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 171 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTGTTAGGTTCTGAAGGGCAG 0.602000 7 40 0 0 0.029380 0 0 GFRAL 389400 broad.mit.edu 37 6 55196548 55196548 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr6:55196548C>A ENST00000340465.2 + 2 144 c.58C>A c.(58-60)Caa>Aaa p.Q20K NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 20 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATACACTTCCCAAACCAATAA 0.348000 3 31 6.4e-05 7.47481e-05 0.004672 1 0 CCNY 219771 broad.mit.edu 37 10 35842027 35842027 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:35842027C>T ENST00000374704.4 + 8 840 c.660C>T c.(658-660)atC>atT p.I220I CCNY_ENST00000265375.9_Silent_p.I166I|CCNY_ENST00000374706.1_Silent_p.I166I|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Silent_p.I195I NM_145012.4 NP_659449.3 Q8ND76 CCNY_HUMAN cyclin Y 220 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 TAGGGGCGATCCTGCTGGCCT 0.512000 8 83 0 0 0.038147 0 0 MUC4 4585 broad.mit.edu 37 3 195515885 195515885 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr3:195515885C>T ENST00000463781.3 - 2 3025 c.2566G>A c.(2566-2568)Gcc>Acc p.A856T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A856T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 861 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACTGGGATGGCACCATGACTG 0.577000 6 45 0 0 0.029380 0 0 PREX2 80243 broad.mit.edu 37 8 69021837 69021837 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:69021837T>C ENST00000288368.4 + 25 3402 c.3125T>C c.(3124-3126)aTg>aCg p.M1042T NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1042 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GAGGTGGAGATGTGTGTTTGT 0.363000 12 37 0 0 0.093190 0 0 PIGB 9488 broad.mit.edu 37 15 55613537 55613537 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr15:55613537A>T ENST00000164305.5 + 3 657 c.366A>T c.(364-366)gcA>gcT p.A122A PIGB_ENST00000539642.1_Intron NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 122 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) TAATCTTTGCAAGCATTTACA 0.328000 5 10 0 0 0.038147 0 0 MET 4233 broad.mit.edu 37 7 116412044 116412044 + Splice_Site SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:116412044G>A ENST00000397752.3 + 14 3228 c.e14+1 MET_ENST00000318493.6_Splice_Site NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.982_1028del47(4)|p.?(3) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTTCCAGAAGGTATATTTCAG 0.343000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 8 22 0 0 0.047766 0 0 DGKK 139189 broad.mit.edu 37 X 50213490 50213490 + RNA SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:50213490G>T ENST00000376025.2 - 0 247 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) ACAGGGACCTGGAGCAAGCTC 0.672000 12 137 0.000978159 0.00108448 0.080935 1 0 ERCC6L 54821 broad.mit.edu 37 X 71424945 71424945 + Silent SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:71424945A>G ENST00000373657.1 - 3 3905 c.3303T>C c.(3301-3303)gtT>gtC p.V1101V PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.V1224V Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 1224 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) CAAGCGCTTTAACTAAGCAGT 0.373000 4 45 0 0 0.009096 0 0 TRPC5 7224 broad.mit.edu 37 X 111195485 111195485 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:111195485G>T ENST00000262839.2 - 2 1082 c.164C>A c.(163-165)gCt>gAt p.A55D NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 55 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTAGATCTCAGCCTCCTGAAG 0.532000 7 91 8.12818e-05 9.4213e-05 0.029380 1 0 CCDC147 159686 broad.mit.edu 37 10 106121912 106121912 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:106121912A>T ENST00000369704.3 + 3 557 c.423A>T c.(421-423)tcA>tcT p.S141S CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 141 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CTGGACTGTCAATGGACCAGC 0.488000 3 8 0 0 0.004672 0 0 ACSM2A 123876 broad.mit.edu 37 16 20494412 20494412 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr16:20494412G>T ENST00000573854.1 + 13 1656 c.1542G>T c.(1540-1542)caG>caT p.Q514H ACSM2A_ENST00000575690.1_Missense_Mutation_p.Q514H|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Q286H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Q435H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Q514H|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Q514H NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 514 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TGGCCTCGCAGTTCCTGTCCC 0.498000 5 159 1.23904e-05 1.50455e-05 0.014758 1 0 MAGEA12 4111 broad.mit.edu 37 X 151900386 151900386 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:151900386C>T ENST00000393900.3 - 3 768 c.415G>A c.(415-417)Gtc>Atc p.V139I CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.V139I|MAGEA12_ENST00000393869.3_Missense_Mutation_p.V139I NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 139 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTGATGACACTCCCCAGC 0.502000 16 181 0 0 0.033300 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303721 151303721 + Silent SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:151303721T>C ENST00000370323.4 - 4 688 c.372A>G c.(370-372)ccA>ccG p.P124P MAGEA10_ENST00000244096.3_Silent_p.P124P|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 124 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACTCACTGTCTGGCAGGACCT 0.502000 18 149 0 0 0.038395 0 0 FAT3 120114 broad.mit.edu 37 11 92615964 92615964 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:92615964G>A ENST00000298047.6 + 23 12359 c.12342G>A c.(12340-12342)gtG>gtA p.V4114V FAT3_ENST00000409404.2_Silent_p.V4114V|FAT3_ENST00000533797.1_Silent_p.V449V|FAT3_ENST00000525166.1_Silent_p.V3964V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4114 EGF-like 4; calcium-binding (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTCCTGCGTGAACGTGTTCG 0.637000 TCGA Ovarian(4;0.039) 5 12 0 0 0.021553 0 0 ALX4 60529 broad.mit.edu 37 11 44289169 44289169 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:44289169A>G ENST00000329255.3 - 3 884 c.781T>C c.(781-783)Tgg>Cgg p.W261R NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 261 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 TTCTGGAACCAGACCTACAAG 0.577000 20 69 0 0 0.055883 0 0 COL15A1 1306 broad.mit.edu 37 9 101787221 101787221 + Silent SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:101787221T>A ENST00000375001.3 + 15 2343 c.1920T>A c.(1918-1920)gtT>gtA p.V640V NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 640 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GAACTGATGTTTTCATGGGAC 0.567000 11 45 0 0 0.069234 0 0 RAG1 5896 broad.mit.edu 37 11 36596428 36596428 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:36596428C>A ENST00000299440.5 + 2 1686 c.1574C>A c.(1573-1575)cCt>cAt p.P525H NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 525 P -> S (in dbSNP:rs4151032). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TGGCAGCCACCTCTGAAGAAT 0.493000 Familial Hemophagocytic Lymphohistiocytosis 20 77 2.4624e-09 3.3048e-09 0.049695 1 0 ZFPM2 23414 broad.mit.edu 37 8 106814552 106814552 + Nonsense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:106814552G>T ENST00000407775.2 + 8 2492 c.2242G>T c.(2242-2244)Gag>Tag p.E748* ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E616*|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E479*|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E616*|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 748 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GTGCCTACCTGAGCAGGAACA 0.522000 4 23 0.00024832 0.00028353 0.009096 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68264919 68264919 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr14:68264919G>A ENST00000347230.4 - 11 2198 c.2060C>T c.(2059-2061)gCc>gTc p.A687V ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A687V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 687 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CCTGAGGAAGGCCCCTATTGC 0.483000 9 55 0 0 0.047766 0 0 CCDC88A 55704 broad.mit.edu 37 2 55646180 55646180 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:55646180C>G ENST00000436346.1 - 1 877 c.36G>C c.(34-36)caG>caC p.Q12H CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q12H|CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q12H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q12H NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 12 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TGGTCATGAACTGCTCCAGAA 0.423000 11 36 0 0 0.105934 0 0 FCGBP 8857 broad.mit.edu 37 19 40421091 40421091 + Splice_Site SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr19:40421091C>A ENST00000221347.6 - 5 2837 c.e5+1 NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACGTCGCTCACCAGCACTTGC 0.682000 6 40 0.0293803 0.0301638 0.029380 1 0 UGT1A1 54658 broad.mit.edu 37 2 234669637 234669637 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:234669637C>T ENST00000360418.3 + 1 704 c.704C>T c.(703-705)tCa>tTa p.S235L UGT1A1_ENST00000305208.5_Missense_Mutation_p.S235L|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron P22309 UD11_HUMAN 235 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) ACCCTTGCCTCAGAATTCCTT 0.493000 9 157 0 0 0.047766 0 0 PARVG 64098 broad.mit.edu 37 22 44585089 44585089 + Silent SNP C C A rs149519388 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr22:44585089C>A ENST00000422871.1 + 6 767 c.343C>A c.(343-345)Cgg>Agg p.R115R PARVG_ENST00000444313.2_Silent_p.R115R|PARVG_ENST00000415224.1_Silent_p.R115R NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 115 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) GGCCGTGAACCGGAGTCTGCA 0.647000 11 43 3.86212e-05 4.43856e-05 0.069234 1 0 MIR30D 407033 broad.mit.edu 37 8 135817175 135817175 + RNA SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr8:135817175A>G ENST00000362283.1 - 0 13 NR_029599.1 CCAGTCGGGGATGTTTACAAC 0.388000 3 56 0 0 0.004672 0 0 COL11A1 1301 broad.mit.edu 37 1 103355112 103355112 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:103355112G>A ENST00000358392.2 - 59 4716 c.4399C>T c.(4399-4401)Cct>Tct p.P1467S COL11A1_ENST00000370096.3_Missense_Mutation_p.P1455S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1416S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1339S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1455 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATTAAACCAGGATGTCCCTTT 0.388000 3 45 0 0 0.004672 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180780 142180780 + RNA SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr7:142180780G>T ENST00000390368.2 - 0 144 TGGAATTTTGGGGTCTGAGTG 0.517000 49 173 1.00776e-21 1.43699e-21 0.048971 1 0 ZNF831 128611 broad.mit.edu 37 20 57766574 57766574 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr20:57766574C>T ENST00000371030.2 + 1 500 c.500C>T c.(499-501)aCg>aTg p.T167M NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 167 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CGGTCCCACACGGGTGAGAGG 0.612000 8 158 0 0 0.038147 0 0 SAMD4B 55095 broad.mit.edu 37 19 39871697 39871697 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr19:39871697G>A ENST00000314471.6 + 14 2951 c.1916G>A c.(1915-1917)cGc>cAc p.R639H SAMD4B_ENST00000598913.1_Missense_Mutation_p.R639H|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 639 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCTGTGCAGCGCACCCACTCG 0.607000 5 72 0 0 0.014758 0 0 ITPR2 3709 broad.mit.edu 37 12 26810659 26810659 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr12:26810659C>A ENST00000381340.3 - 18 2589 c.2173G>T c.(2173-2175)Gaa>Taa p.E725* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 725 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GTAAGAACTTCTAAGTCAGCT 0.398000 13 75 1.5842e-08 2.03306e-08 0.105934 1 0 C8orf34 116328 broad.mit.edu 37 8 69351791 69351791 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr8:69351791G>A ENST00000337103.4 + 1 1644 c.52G>A c.(52-54)Gac>Aac p.D18N C8orf34_ENST00000518698.1_Missense_Mutation_p.D129N|C8orf34_ENST00000523686.1_Missense_Mutation_p.D43N|C8orf34_ENST00000539993.1_Missense_Mutation_p.D43N|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.D43N Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 43 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATTTCTCATTGACCATCTTCA 0.388000 4 29 0 0 0.014758 0 0 BMPER 168667 broad.mit.edu 37 7 34125511 34125511 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr7:34125511G>T ENST00000297161.2 + 14 1926 c.1552G>T c.(1552-1554)Gat>Tat p.D518Y BMPER_ENST00000426693.1_Missense_Mutation_p.D518Y NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 518 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 p.D518H(1) 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 CTTCAAGTTTGATGTGGATGA 0.483000 17 72 3.32936e-07 4.10177e-07 0.038395 1 0 NYAP2 57624 broad.mit.edu 37 2 226446708 226446708 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:226446708C>A ENST00000272907.6 + 4 988 c.575C>A c.(574-576)cCt>cAt p.P192H NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 192 AAGATTCCTCCTCCCAAACCG 0.473000 32 161 3.99451e-17 5.59231e-17 0.041601 1 0 TMEM179B 374395 broad.mit.edu 37 11 62554927 62554927 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:62554927C>T ENST00000333449.4 + 1 29 c.24C>T c.(22-24)cgC>cgT p.R8R TMEM179B_ENST00000533861.1_Silent_p.R8R|TMEM223_ENST00000527073.1_Intron NM_199337.2 NP_955369.1 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 8 integral to membrane kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 GGCTGCAGCGCGTCGAGCTTG 0.726000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 18 0 0 0.004672 0 0 HHIPL2 79802 broad.mit.edu 37 1 222715378 222715378 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:222715378C>A ENST00000343410.6 - 3 1152 c.1094G>T c.(1093-1095)gGc>gTc p.G365V NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 365 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) TCCAAACAGGCCAAAGGGATC 0.537000 20 51 4.54149e-19 6.41641e-19 0.069288 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 27 0 0 0.080935 0 0 SPATA7 55812 broad.mit.edu 37 14 88857734 88857734 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr14:88857734C>T ENST00000556553.1 + 3 588 c.29C>T c.(28-30)aCc>aTc p.T10I SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000393545.4_Missense_Mutation_p.T10I|SPATA7_ENST00000356583.5_Missense_Mutation_p.T10I|SPATA7_ENST00000045347.7_Missense_Mutation_p.T10I Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 10 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GTCAGAGCAACCTCTGTCCTT 0.318000 3 14 0 0 0.004672 0 0 TRAPPC13 80006 broad.mit.edu 37 5 64960080 64960080 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr5:64960080C>A ENST00000399438.3 + 12 1360 c.1015C>A c.(1015-1017)Ctg>Atg p.L339M TRAPPC13_ENST00000231526.4_Missense_Mutation_p.L333M|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.L341M|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.L340M|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.L334M NM_001093755.1|NM_024941.3 NP_001087224.1|NP_079217.2 trafficking protein particle complex 13 GACTATGGATCTGGTTTTGGA 0.413000 24 115 8.24728e-16 1.14422e-15 0.099896 1 0 NTNG1 22854 broad.mit.edu 37 1 107937934 107937934 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:107937934G>A ENST00000370067.1 + 4 1673 c.1046G>A c.(1045-1047)gGc>gAc p.G349D NTNG1_ENST00000370065.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370066.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370070.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370072.3_Missense_Mutation_p.G349D|NTNG1_ENST00000370073.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370074.4_Missense_Mutation_p.G349D|NTNG1_ENST00000370071.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370068.1_Missense_Mutation_p.G349D|NTNG1_ENST00000542803.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370061.3_Missense_Mutation_p.G349D Q9Y2I2 NTNG1_HUMAN netrin G1 349 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATCCCCAAAGGCACTGCAAAT 0.448000 21 84 0 0 0.049695 0 0 RYR1 6261 broad.mit.edu 37 19 38983277 38983277 + Splice_Site SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr19:38983277G>A ENST00000355481.4 + 38 6405 c.e38+1 RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCAAACCCCGTGAGGACTGG 0.627000 3 11 0 0 0.004672 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 45 0 0 0.021553 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364702 142364702 + RNA SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr7:142364702A>G ENST00000390397.2 + 0 373 CTGTGCCACCAGTGATTTGCA 0.517000 12 60 0 0 0.093190 0 0 GRM4 2914 broad.mit.edu 37 6 34029800 34029800 + Missense_Mutation SNP C C T rs144674222 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr6:34029800C>T ENST00000374181.3 - 3 911 c.742G>A c.(742-744)Gtg>Atg p.V248M GRM4_ENST00000374177.3_Missense_Mutation_p.V179M|GRM4_ENST00000544773.1_Missense_Mutation_p.V79M|GRM4_ENST00000455714.2_Missense_Mutation_p.V108M|GRM4_ENST00000535756.1_Missense_Mutation_p.V115M|GRM4_ENST00000538487.1_Missense_Mutation_p.V248M|GRM4_ENST00000545715.1_De_novo_Start_InFrame NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 248 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCGATGCACACGCCCCCTGCA 0.642000 6 51 0 0 0.038147 0 0 IGKV3-7 28915 broad.mit.edu 37 2 89278494 89278494 + RNA SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:89278494G>T ENST00000390247.2 - 0 106 AGCTGAGCTGGGGCTTCCATG 0.577000 19 98 2.94398e-08 3.71617e-08 0.043863 1 0 ACSM2A 123876 broad.mit.edu 37 16 20494412 20494412 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr16:20494412G>T ENST00000573854.1 + 13 1656 c.1542G>T c.(1540-1542)caG>caT p.Q514H ACSM2A_ENST00000219054.6_Missense_Mutation_p.Q514H|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Q286H|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Q514H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Q435H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Q514H NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 514 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TGGCCTCGCAGTTCCTGTCCC 0.498000 5 159 1.23904e-05 1.47916e-05 0.014758 1 0 PHACTR3 116154 broad.mit.edu 37 20 58349347 58349347 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr20:58349347C>T ENST00000371015.1 + 7 1443 c.976C>T c.(976-978)Cgt>Tgt p.R326C PHACTR3_ENST00000359926.3_Missense_Mutation_p.R323C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R285C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R285C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R285C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R215C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R215C NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 326 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GCTGGATGTCCGTCTGTCGAG 0.532000 3 60 0 0 0.004672 0 0 KCNH8 131096 broad.mit.edu 37 3 19575248 19575248 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr3:19575248C>T ENST00000328405.2 + 16 3247 c.2981C>T c.(2980-2982)tCa>tTa p.S994L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 994 Ser-rich. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CTTGATTATTCACCTTCCCAC 0.478000 20 112 0 0 0.043863 0 0 REV1 51455 broad.mit.edu 37 2 100019435 100019435 + Missense_Mutation SNP T T G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:100019435T>G ENST00000258428.3 - 20 3529 c.3301A>C c.(3301-3303)Act>Cct p.T1101P REV1_ENST00000393445.3_Missense_Mutation_p.T1100P NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 1101 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGGCAGAGTTTTTGCAGGA 0.413000 Direct reversal of damage 8 66 0 0 0.038147 0 0 MYLK 4638 broad.mit.edu 37 3 123337498 123337498 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr3:123337498A>T ENST00000360772.3 - 33 5713 c.5335T>A c.(5335-5337)Tgc>Agc p.C1779S MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.C1830S|MYLK_ENST00000359169.1_Missense_Mutation_p.C1779S|MYLK_ENST00000578202.1_Missense_Mutation_p.C69S|MYLK_ENST00000418370.2_Missense_Mutation_p.C70S|MYLK_ENST00000354792.5_Missense_Mutation_p.C630S|MYLK_ENST00000583087.1_Missense_Mutation_p.C70S|MYLK_ENST00000475616.1_Missense_Mutation_p.C1830S|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.C1761S|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase 1830 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCAATCTTGCAGTCAAATCTA 0.473000 9 88 0 0 0.080935 0 0 FERMT3 83706 broad.mit.edu 37 11 63990560 63990560 + Missense_Mutation SNP A A C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:63990560A>C ENST00000279227.5 + 14 1818 c.1723A>C c.(1723-1725)Aac>Cac p.N575H FERMT3_ENST00000345728.5_Missense_Mutation_p.N571H NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 575 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GGGCATCGCCAACAACCGACT 0.627000 13 53 0 0 0.105934 0 0 TH 7054 broad.mit.edu 37 11 2189733 2189733 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:2189733C>A ENST00000381178.1 - 4 586 c.568G>T c.(568-570)Gcg>Tcg p.A190S TH_ENST00000333684.5_Missense_Mutation_p.A163S|TH_ENST00000352909.3_Missense_Mutation_p.A159S|TH_ENST00000381175.1_Missense_Mutation_p.A186S NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 190 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) TTGGGCCCCGCGGGGCTGCGC 0.687000 3 28 0.004672 0.00489448 0.004672 1 0 UBE4B 10277 broad.mit.edu 37 1 10197176 10197176 + Missense_Mutation SNP T T G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:10197176T>G ENST00000377157.3 + 16 2602 c.1541T>G c.(1540-1542)tTt>tGt p.F514C UBE4B_ENST00000253251.8_Missense_Mutation_p.F630C|UBE4B_ENST00000343090.6_Missense_Mutation_p.F759C NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 759 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GAGTGCTTCTTTCTCACCCTG 0.468000 9 94 0 0 0.047766 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877931 39877931 + Nonsense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:39877931C>G ENST00000530275.1 + 1 1781 c.1586C>G c.(1585-1587)tCa>tGa p.S529* MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 529 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GATGTTACCTCAGGACCTGAA 0.393000 7 143 0 0 0.047766 0 0 MTUS2 23281 broad.mit.edu 37 13 29600083 29600083 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr13:29600083A>T ENST00000431530.3 + 1 1336 c.1278A>T c.(1276-1278)ccA>ccT p.P426P NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 416 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 AAATTTCACCATGTGCAGGTG 0.512000 9 41 0 0 0.047766 0 0 NOL4 8715 broad.mit.edu 37 18 31803075 31803075 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr18:31803075G>T ENST00000261592.5 - 1 440 c.143C>A c.(142-144)aCg>aAg p.T48K RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.T48K NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 48 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GGCGTTGTCCGTGGAGCTCGA 0.597000 9 71 3.86212e-05 4.43856e-05 0.069234 1 0 ITGA10 8515 broad.mit.edu 37 1 145534172 145534172 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:145534172G>A ENST00000369304.3 + 14 1852 c.1677G>A c.(1675-1677)ctG>ctA p.L559L ITGA10_ENST00000539363.1_Silent_p.L416L|ITGA10_ENST00000538811.1_Silent_p.L428L NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 559 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCTGATCTGAACCAAGATG 0.582000 10 180 0 0 0.080935 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249937 140249937 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr5:140249937G>A ENST00000398640.2 + 1 1249 c.1249G>A c.(1249-1251)Gtg>Atg p.V417M PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGAGAACGTGTGGGCCTA 0.622000 12 176 0 0 0.093190 0 0 CLYBL 171425 broad.mit.edu 37 13 100511246 100511246 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr13:100511246G>T ENST00000376355.3 + 3 412 c.381G>T c.(379-381)cgG>cgT p.R127R CLYBL_ENST00000339105.4_Silent_p.R127R|CLYBL_ENST00000376354.1_Silent_p.R127R|CLYBL_ENST00000376360.1_Silent_p.R127R|CLYBL_ENST00000444838.2_Silent_p.R127R NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 127 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGCAATCCCGGGTCCTTCCTT 0.488000 9 28 2.74318e-10 3.7057e-10 0.058154 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17699682 17699682 + Translation_Start_Site SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:17699682T>A ENST00000399080.2 - 1 24 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGGAGAGACATGACAGCGAAT 0.622000 14 95 0 0 0.028581 0 0 ABCA1 19 broad.mit.edu 37 9 107618283 107618283 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr9:107618283G>A ENST00000423487.2 - 8 1103 c.807C>T c.(805-807)ccC>ccT p.P269P ABCA1_ENST00000374736.3_Intron O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 0 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCATCATGTTGGGCTTTGCAT 0.423000 9 39 0 0 0.058154 0 0 FLG 2312 broad.mit.edu 37 1 152282874 152282874 + Missense_Mutation SNP G G C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:152282874G>C ENST00000368799.1 - 3 4523 c.4488C>G c.(4486-4488)agC>agG p.S1496R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1496 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) TTCCTCCTCTGCTTGACCCCG 0.577000 Ichthyosis 219 475 0 0 0.048971 0 0 NEURL1 9148 broad.mit.edu 37 10 105350046 105350046 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr10:105350046C>T ENST00000369780.4 + 6 2051 c.1642C>T c.(1642-1644)Cgc>Tgc p.R548C NEURL_ENST00000369777.2_Missense_Mutation_p.R531C|SH3PXD2A_ENST00000427662.2_Intron NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 548 nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTGTGGCCTGCGCCTCAAGAA 0.622000 7 40 0 0 0.029380 0 0 DIDO1 11083 broad.mit.edu 37 20 61513083 61513083 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr20:61513083C>T ENST00000266070.4 - 16 4550 c.4225G>A c.(4225-4227)Gag>Aag p.E1409K DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1409 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.E1409*(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTTCCACCTCGTGGCGCCGC 0.602000 13 108 0 0 0.020292 0 0 TGM3 7053 broad.mit.edu 37 20 2293605 2293605 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr20:2293605G>T ENST00000381458.5 + 5 665 c.602G>T c.(601-603)cGt>cTt p.R201L NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 201 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.R201H(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AATTTCCGCCGTGACGCTGCT 0.463000 11 78 0.000978159 0.00106834 0.080935 1 0 PAPSS1 9061 broad.mit.edu 37 4 108578069 108578069 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr4:108578069A>T ENST00000265174.4 - 7 1150 c.878T>A c.(877-879)tTt>tAt p.F293Y PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 293 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) AAGACAATCAAAATGAAGGCA 0.393000 16 48 0 0 0.033300 0 0 DOCK8 81704 broad.mit.edu 37 9 371489 371489 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr9:371489C>T ENST00000432829.2 + 17 2042 c.1726C>T c.(1726-1728)Cac>Tac p.H576Y DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000469391.1_Missense_Mutation_p.H576Y|DOCK8_ENST00000382329.1_Missense_Mutation_p.H111Y|DOCK8_ENST00000453981.1_Missense_Mutation_p.H644Y NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 644 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGTAAATCACCACCTCCTGTT 0.438000 5 65 0 0 0.021553 0 0 TRPM8 79054 broad.mit.edu 37 2 234871956 234871956 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:234871956C>G ENST00000324695.4 + 13 1724 c.1684C>G c.(1684-1686)Caa>Gaa p.Q562E TRPM8_ENST00000433712.2_Missense_Mutation_p.Q250E NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 562 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GCACCCCCTGCAAGCTCTCTT 0.502000 3 43 0 0 0.009096 0 0 OR4A5 81318 broad.mit.edu 37 11 51412273 51412273 + Silent SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:51412273C>A ENST00000319760.6 - 1 175 c.123G>T c.(121-123)ctG>ctT p.L41L NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CCACAATGAGCAGGTTCCCCA 0.448000 12 32 2.27111e-07 2.82057e-07 0.093190 1 0 SRPX 8406 broad.mit.edu 37 X 38020261 38020261 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:38020261C>A ENST00000378533.3 - 6 806 c.700G>T c.(700-702)Gac>Tac p.D234Y SRPX_ENST00000538295.1_Missense_Mutation_p.D234Y|SRPX_ENST00000544439.1_Missense_Mutation_p.D214Y|SRPX_ENST00000432886.2_Missense_Mutation_p.D175Y|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.D221Y NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 234 HYR. cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 ATCTTGTGGTCTCCTTCTGGA 0.418000 8 52 0.000157383 0.000178213 0.038147 1 0 TRIB1 10221 broad.mit.edu 37 8 126445584 126445584 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr8:126445584A>T ENST00000311922.3 + 2 968 c.386A>T c.(385-387)gAc>gTc p.D129V TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_5'UTR NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 129 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CACTACCAGGACAAAATCAGG 0.512000 30 245 0 0 0.059317 0 0 OR5T2 219464 broad.mit.edu 37 11 55999948 55999948 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:55999948G>T ENST00000313264.4 - 1 789 c.714C>A c.(712-714)ctC>ctA p.L238L NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 238 L -> V (in dbSNP:rs12221615). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) CAAAGTAGAAGAGTAGAAGCT 0.428000 14 87 4.93089e-13 6.71998e-13 0.020292 1 0 HNF4A 3172 broad.mit.edu 37 20 43034755 43034755 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr20:43034755C>T ENST00000316099.3 + 2 262 c.173C>T c.(172-174)gCc>gTc p.A58V HNF4A_ENST00000457232.1_Missense_Mutation_p.A36V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A58V|HNF4A_ENST00000415691.1_Missense_Mutation_p.A58V NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 58 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTGTCAGCGCCCTGTGTGCC 0.632000 37 133 0 0 0.074837 0 0 POTEF 728378 broad.mit.edu 37 2 130832520 130832520 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:130832520A>T ENST00000357462.5 - 15 2618 c.2525T>A c.(2524-2526)cTg>cAg p.L842Q POTEF_ENST00000409914.2_Missense_Mutation_p.L842Q A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 842 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 AGAGGTGTACAGGGACAGCAC 0.587000 41 428 0 0 0.111260 0 0 OR56B1 387748 broad.mit.edu 37 11 5758467 5758467 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:5758467G>A ENST00000317121.3 + 1 787 c.721G>A c.(721-723)Gaa>Aaa p.E241K TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GAACTCAGCTGAAGCTGCAGC 0.423000 21 83 0 0 0.049695 0 0 VPS33B 26276 broad.mit.edu 37 15 91548985 91548985 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr15:91548985C>T ENST00000333371.3 - 13 1322 c.969G>A c.(967-969)atG>atA p.M323I VPS33B_ENST00000535843.1_Missense_Mutation_p.M232I|VPS33B_ENST00000535906.1_Missense_Mutation_p.M296I NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 323 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) CGAAATTCTTCATCTGCTTAA 0.567000 9 85 0 0 0.058154 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638205 149638205 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:149638205G>T ENST00000370401.2 + 4 670 c.360G>T c.(358-360)gcG>gcT p.A120A MAMLD1_ENST00000432680.2_Silent_p.A95A|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_Silent_p.A95A|MAMLD1_ENST00000262858.5_Silent_p.A120A Q13495 MAMD1_HUMAN mastermind-like domain containing 1 120 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CTAGCCCTGCGGCTATGGGAG 0.512000 14 104 2.62699e-14 3.61211e-14 0.024245 1 0 ACSM5 54988 broad.mit.edu 37 16 20430747 20430747 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr16:20430747G>A ENST00000331849.4 + 4 760 c.613G>A c.(613-615)Gaa>Aaa p.E205K ACSM5_ENST00000575584.1_Missense_Mutation_p.E205K NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 205 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GAACTTCAGGGAACTCCTCCG 0.517000 12 37 0 0 0.105934 0 0 GDE1 51573 broad.mit.edu 37 16 19514835 19514835 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr16:19514835T>C ENST00000353258.3 - 6 1133 c.953A>G c.(952-954)tAt>tGt p.Y318C NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 318 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 GTCAGTGATATAGCTGGAACC 0.458000 OREG0023659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 77 0 0 0.093190 0 0 STXBP5 134957 broad.mit.edu 37 6 147581750 147581750 + Splice_Site SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr6:147581750G>T ENST00000367481.3 + 5 539 c.e5-1 STXBP5_ENST00000321680.6_Splice_Site|STXBP5_ENST00000179882.6_Splice_Site|STXBP5_ENST00000546097.1_Splice_Site|STXBP5_ENST00000367480.3_Splice_Site NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TTCTCTTGCAGGGTTACATTT 0.353000 7 32 0.00198382 0.00210695 0.029380 1 0 KRT6B 3854 broad.mit.edu 37 12 52845437 52845437 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr12:52845437C>A ENST00000252252.3 - 1 473 c.426G>T c.(424-426)caG>caT p.Q142H NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 142 Head. ectoderm development keratin filament structural constituent of cytoskeleton p.Q142H(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TCAGGAGACTCTGGTTGACAG 0.622000 12 160 0.00136819 0.00146321 0.093190 1 0 SIPA1 6494 broad.mit.edu 37 11 65408900 65408900 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:65408900G>A ENST00000394224.3 + 2 804 c.508G>A c.(508-510)Ggg>Agg p.G170R SIPA1_ENST00000394227.3_Missense_Mutation_p.G170R|SIPA1_ENST00000534313.1_Missense_Mutation_p.G170R|SIPA1_ENST00000527525.1_Missense_Mutation_p.G170R NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 170 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GTGTGAGCTCGGGGGTGAGGG 0.677000 6 77 0 0 0.029380 0 0 SALL4 57167 broad.mit.edu 37 20 50407055 50407055 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr20:50407055G>A ENST00000217086.4 - 2 2078 c.1967C>T c.(1966-1968)aCg>aTg p.T656M SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 656 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGCAGGGGCGTGTTGGGAAT 0.547000 5 64 0 0 0.021553 0 0 DLX4 1748 broad.mit.edu 37 17 48051138 48051138 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr17:48051138G>A ENST00000240306.3 + 3 849 c.554G>A c.(553-555)gGg>gAg p.G185E DLX4_ENST00000411890.2_Missense_Mutation_p.G113E NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 185 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 GGGCAGGAAGGGGACTTCCCT 0.557000 37 127 0 0 0.064281 0 0 IFT88 8100 broad.mit.edu 37 13 21205212 21205212 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr13:21205212G>T ENST00000382778.4 + 17 2502 c.1384G>T c.(1384-1386)Gca>Tca p.A462S IFT88_ENST00000351808.5_Missense_Mutation_p.A453S|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000319980.6_Missense_Mutation_p.A462S|IFT88_ENST00000537103.1_Missense_Mutation_p.A434S Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 462 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AAGTGCAGCTGCAACCAATCT 0.343000 11 69 2.80697e-09 3.66334e-09 0.080935 1 0 FAM9A 171482 broad.mit.edu 37 X 8759376 8759376 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:8759376A>T ENST00000543214.1 - 9 1110 c.975T>A c.(973-975)agT>agA p.S325R FAM9A_ENST00000381003.3_Missense_Mutation_p.S325R NM_001171186.1 NP_001164657.1 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 325 nucleolus endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) CACTTTCTTCACTGGAAGAAA 0.343000 4 24 0 0 0.009096 0 0 OR2F1 26211 broad.mit.edu 37 7 143657663 143657663 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr7:143657663G>T ENST00000392899.1 + 1 637 c.600G>T c.(598-600)atG>atT p.M200I NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TCACCATCATGGTGTCTAGCA 0.473000 19 74 8.34094e-07 1.01142e-06 0.049695 1 0 ZNF813 126017 broad.mit.edu 37 19 53989968 53989968 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr19:53989968A>G ENST00000396403.4 + 3 226 c.98A>G c.(97-99)tAc>tGc p.Y33C ZNF813_ENST00000396421.4_Missense_Mutation_p.Y33C NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AGGACTCTATACAGGGACGTG 0.473000 22 131 0 0 0.091800 0 0 CYTH4 27128 broad.mit.edu 37 22 37707058 37707058 + Missense_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr22:37707058T>A ENST00000248901.6 + 10 1025 c.838T>A c.(838-840)Tgg>Agg p.W280R NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 280 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GAAACGGCGCTGGTTCATCCT 0.637000 12 129 0 0 0.105934 0 0 DEFA4 1669 broad.mit.edu 37 8 6793542 6793542 + Nonstop_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr8:6793542T>A ENST00000297435.2 - 3 418 c.294A>T c.(292-294)taA>taT p.*98Y NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 0 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CAGCAGAACGTTAATCGACAC 0.488000 15 93 0 0 0.024245 0 0 M1AP 130951 broad.mit.edu 37 2 74834325 74834325 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:74834325C>T ENST00000290536.5 - 4 568 c.452G>A c.(451-453)gGa>gAa p.G151E M1AP_ENST00000536235.1_Missense_Mutation_p.G151E|M1AP_ENST00000409585.1_Missense_Mutation_p.G151E|M1AP_ENST00000358434.2_5'UTR NM_138804.3 NP_620159.2 meiosis 1 associated protein CACCTCTTTTCCAGGCTGAGA 0.443000 6 70 0 0 0.021553 0 0 NFASC 23114 broad.mit.edu 37 1 204953227 204953227 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:204953227G>T ENST00000367172.4 + 22 2871 c.2543G>T c.(2542-2544)cGc>cTc p.R848L NFASC_ENST00000339876.6_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.R844L|NFASC_ENST00000367171.4_Missense_Mutation_p.R833L|NFASC_ENST00000404907.1_Missense_Mutation_p.R844L|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000513543.1_Missense_Mutation_p.R844L|NFASC_ENST00000338515.6_Missense_Mutation_p.R848L|NFASC_ENST00000539706.1_Missense_Mutation_p.R844L|NFASC_ENST00000404076.1_Missense_Mutation_p.R827L|NFASC_ENST00000367170.4_Missense_Mutation_p.R848L|NFASC_ENST00000338586.6_Missense_Mutation_p.R848L O94856 NFASC_HUMAN neurofascin 848 Fibronectin type-III 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGTGGAACCGCGTCTACTCC 0.587000 4 63 0.00116845 0.00125833 0.021553 1 0 SLC30A1 7779 broad.mit.edu 37 1 211749082 211749082 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:211749082T>C ENST00000367001.4 - 2 1301 c.1172A>G c.(1171-1173)gAa>gGa p.E391G NM_021194.2 NP_067017.2 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), member 1 391 cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1) 11 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) TGTTGGATCTTCACATTTTAT 0.388000 3 65 0 0 0.004672 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 44 0 0 0.021553 0 0 WRN 7486 broad.mit.edu 37 8 30938527 30938527 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr8:30938527A>T ENST00000298139.5 + 9 1233 c.984A>T c.(982-984)gtA>gtT p.V328V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 328 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTGGGGGAGTACAACAGAAAC 0.368000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 6 37 0 0 0.029380 0 0 UNC5A 90249 broad.mit.edu 37 5 176301080 176301080 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr5:176301080G>T ENST00000329542.4 + 7 1272 c.998G>T c.(997-999)gGg>gTg p.G333V UNC5A_ENST00000261961.3_Missense_Mutation_p.G293V NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 333 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGAAGGAGGGGCTGGACTCA 0.632000 8 39 5.4927e-09 7.1082e-09 0.047766 1 0 OR1K1 392392 broad.mit.edu 37 9 125562995 125562995 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr9:125562995G>A ENST00000277309.2 + 1 626 c.594G>A c.(592-594)ctG>ctA p.L198L NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 ACATCCAGCTGCTCATCTTCA 0.617000 13 78 0 0 0.105934 0 0 DGKK 139189 broad.mit.edu 37 X 50213491 50213491 + RNA SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:50213491G>T ENST00000376025.2 - 0 246 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CAGGGACCTGGAGCAAGCTCT 0.672000 12 133 0.000978159 0.00106834 0.080935 1 0 ASMT 438 broad.mit.edu 37 X 1746614 1746614 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:1746614C>T ENST00000381241.3 + 4 592 c.393C>T c.(391-393)taC>taT p.Y131Y ASMT_ENST00000381233.3_Silent_p.Y131Y|ASMT_ENST00000381229.4_Silent_p.Y131Y NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 131 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGAACCAGTACCTGGAGACGT 0.378000 15 157 0 0 0.020292 0 0 DNAJC3 5611 broad.mit.edu 37 13 96416145 96416145 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr13:96416145A>G ENST00000602402.1 + 9 1130 c.1013A>G c.(1012-1014)gAc>gGc p.D338G DNAJC3_ENST00000376795.6_Missense_Mutation_p.D287G NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 338 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) ATGGAACCTGACAATGTGAAT 0.393000 10 74 0 0 0.058154 0 0 PAK7 57144 broad.mit.edu 37 20 9546635 9546635 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr20:9546635C>T ENST00000378429.3 - 6 1933 c.1387G>A c.(1387-1389)Gta>Ata p.V463I PAK7_ENST00000378423.1_Missense_Mutation_p.V463I|PAK7_ENST00000353224.5_Missense_Mutation_p.V463I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 463 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.V463L(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCGATGCATACGATGCCGGTT 0.522000 6 143 0 0 0.029380 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256140 15256140 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr10:15256140C>G ENST00000378116.4 - 8 1453 c.1447G>C c.(1447-1449)Gat>Cat p.D483H NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 483 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CTGTAGTCATCATTGCCCGAG 0.483000 15 83 0 0 0.020292 0 0 QPCT 25797 broad.mit.edu 37 2 37594376 37594376 + Splice_Site SNP C C G rs151306583 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:37594376C>G ENST00000338415.3 + 4 706 c.546_splice c.e4-1 p.T183_splice QPCT_ENST00000537448.1_Splice_Site_p.T134_splice NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 183 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) TTTTACCAGACTGTTTCAGAC 0.363000 11 76 0 0 0.105934 0 0 ITGA5 3678 broad.mit.edu 37 12 54801969 54801969 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr12:54801969C>A ENST00000293379.4 - 7 1003 c.742G>T c.(742-744)Gag>Tag p.E248* RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 248 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 ATCAGGTACTCGGGGTAATAA 0.547000 13 45 1.49906e-05 1.77581e-05 0.020292 1 0 EYS 346007 broad.mit.edu 37 6 66204723 66204723 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr6:66204723C>A ENST00000503581.1 - 4 1118 c.581G>T c.(580-582)tGg>tTg p.W194L EYS_ENST00000393380.2_Missense_Mutation_p.W194L|EYS_ENST00000370618.3_Missense_Mutation_p.W194L|EYS_ENST00000370616.2_Missense_Mutation_p.W194L|EYS_ENST00000370621.3_Missense_Mutation_p.W194L|EYS_ENST00000342421.5_Missense_Mutation_p.W194L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 194 EGF-like 1. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TGTCTTGCTCCAAGCTTCACT 0.418000 5 20 3.59834e-05 4.19806e-05 0.021553 1 0 CPB2 1361 broad.mit.edu 37 13 46632454 46632454 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr13:46632454G>T ENST00000181383.4 - 9 875 c.859C>A c.(859-861)Cca>Aca p.P287T CPB2_ENST00000439329.3_Missense_Mutation_p.P250T|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 287 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) TTCACTTCTGGTTCTGACTCA 0.418000 6 87 0.00116845 0.00125833 0.021553 1 0 PSG11 5680 broad.mit.edu 37 19 43523108 43523108 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr19:43523108C>G ENST00000401740.1 - 3 626 c.523G>C c.(523-525)Gac>Cac p.D175H PSG11_ENST00000306322.7_Missense_Mutation_p.D53H|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Missense_Mutation_p.D175H|PSG11_ENST00000403486.1_Missense_Mutation_p.D53H Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 175 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TAGCTTGCGTCCGGAGTCTCA 0.527000 26 336 0 0 0.083992 0 0 SLC45A2 51151 broad.mit.edu 37 5 33964049 33964049 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr5:33964049C>A ENST00000382102.3 - 3 692 c.635G>T c.(634-636)gGt>gTt p.G212V SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.G212V|SLC45A2_ENST00000342059.3_Missense_Mutation_p.G153V NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 212 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 GAATTCTGTACCCAACAGTCT 0.473000 14 47 3.27435e-08 4.0996e-08 0.020292 1 0 ADNP2 22850 broad.mit.edu 37 18 77895840 77895840 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr18:77895840C>G ENST00000262198.4 + 4 2999 c.2544C>G c.(2542-2544)caC>caG p.H848Q NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 848 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CTGGGATACACTCCAAGTCAC 0.567000 13 83 0 0 0.024245 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944882 43944882 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr12:43944882C>T ENST00000389420.3 - 2 282 c.283G>A c.(283-285)Gcc>Acc p.A95T ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A95T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 95 proteinaceous extracellular matrix zinc ion binding p.A95T(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GATGCATCGGCGGTCAGGTTC 0.677000 7 74 0 0 0.029380 0 0 GABRQ 55879 broad.mit.edu 37 X 151815621 151815621 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:151815621C>A ENST00000370306.2 + 4 539 c.519C>A c.(517-519)taC>taA p.Y173* NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 173 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.Y173Y(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CGGTGCGGTACGGCATCCGGT 0.517000 5 49 5.9392e-07 7.25902e-07 0.021553 1 0 FRG1B 284802 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 4 40 0 0 0.009096 0 0 YARS2 51067 broad.mit.edu 37 12 32908428 32908428 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr12:32908428C>G ENST00000324868.8 - 1 408 c.381G>C c.(379-381)aaG>aaC p.K127N NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 127 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CCTCGCGTTCCTTGGTACGGC 0.682000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 40 0 0 0.014758 0 0 USH2A 7399 broad.mit.edu 37 1 216251437 216251437 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:216251437C>G ENST00000366943.2 - 27 5952 c.5566G>C c.(5566-5568)Gaa>Caa p.E1856Q RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1856Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1856 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTACCTTGTTCCAAACACAAA 0.458000 HNSCC(13;0.011) 6 88 0 0 0.029380 0 0 UNC5A 90249 broad.mit.edu 37 5 176304986 176304986 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr5:176304986G>A ENST00000329542.4 + 11 2001 c.1727G>A c.(1726-1728)gGc>gAc p.G576D UNC5A_ENST00000261961.3_Missense_Mutation_p.G536D NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 576 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCAGCTGGGCCGCTTTGCC 0.667000 15 36 0 0 0.020292 0 0 PDE1C 5137 broad.mit.edu 37 7 31862712 31862712 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr7:31862712C>T ENST00000396184.3 - 15 1761 c.1557G>A c.(1555-1557)gaG>gaA p.E519E PDE1C_ENST00000396182.2_Silent_p.E519E|PDE1C_ENST00000396193.1_Silent_p.E579E|PDE1C_ENST00000396191.1_Silent_p.E519E|PDE1C_ENST00000321453.7_Silent_p.E519E NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 519 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CCCTCCATCTCTCCCGATTGA 0.468000 12 136 0 0 0.024245 0 0 LIMS1 3987 broad.mit.edu 37 2 109292448 109292448 + Silent SNP C C T rs111779374 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr2:109292448C>T ENST00000393310.1 + 6 776 c.609C>T c.(607-609)cgC>cgT p.R203R LIMS1_ENST00000338045.3_Silent_p.R203R|LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000332345.6_Silent_p.R203R|LIMS1_ENST00000409441.1_Silent_p.R240R|LIMS1_ENST00000544547.1_Silent_p.R215R NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 203 LIM zinc-binding 4. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 TCGAAGGGCGCGTGGTGAACG 0.537000 8 35 0 0 0.038147 0 0 AGBL2 79841 broad.mit.edu 37 11 47712126 47712126 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:47712126G>A ENST00000525123.1 - 10 1418 c.1133C>T c.(1132-1134)aCg>aTg p.T378M AGBL2_ENST00000528244.1_Missense_Mutation_p.T340M|AGBL2_ENST00000298861.4_Missense_Mutation_p.T378M|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.T378M NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 378 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 AATGGTCCACGTGAGACAGTA 0.468000 22 98 0 0 0.083992 0 0 TJP3 27134 broad.mit.edu 37 19 3736270 3736270 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr19:3736270G>A ENST00000541714.2 + 11 1697 c.1235G>A c.(1234-1236)gGc>gAc p.G412D TJP3_ENST00000589378.1_Missense_Mutation_p.G421D|TJP3_ENST00000382008.3_Missense_Mutation_p.G426D|TJP3_ENST00000587686.1_Missense_Mutation_p.G431D|TJP3_ENST00000262968.9_Missense_Mutation_p.G445D|TJP3_ENST00000539908.2_Missense_Mutation_p.G376D NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 426 PDZ 3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCAGGCGGGCAGCCCGGCC 0.697000 3 30 0 0 0.009096 0 0 USP35 57558 broad.mit.edu 37 11 77918630 77918630 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:77918630C>T ENST00000529308.1 + 8 1707 c.1446C>T c.(1444-1446)acC>acT p.T482T USP35_ENST00000441408.2_Silent_p.T68T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T213T|USP35_ENST00000530267.1_Silent_p.T50T NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 482 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CCCTGATGACCAAGCTGCAGT 0.582000 17 104 0 0 0.038395 0 0 NELL1 4745 broad.mit.edu 37 11 21592368 21592368 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:21592368T>C ENST00000298925.5 + 19 2276 c.2123T>C c.(2122-2124)cTa>cCa p.L708P NELL1_ENST00000325319.5_Missense_Mutation_p.L623P|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.L680P|NELL1_ENST00000532434.1_Missense_Mutation_p.L633P Q92832 NELL1_HUMAN NEL-like 1 (chicken) 680 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGTGCTGACCTATTCTGTTGC 0.438000 16 82 0 0 0.028581 0 0 BTC 685 broad.mit.edu 37 4 75673268 75673268 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr4:75673268C>G ENST00000395743.3 - 5 880 c.520G>C c.(520-522)Gag>Cag p.E174Q NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 174 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) ATATTTGTCTCTTCAATATCT 0.338000 3 52 0 0 0.004672 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177188 89177188 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:89177188G>T ENST00000561129.2 + 1 234 c.104G>T c.(103-105)aGa>aTa p.R35I TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R35I Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 35 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 ATCATGTCGAGAAATAACGCA 0.582000 10 42 2.80697e-09 3.66334e-09 0.080935 1 0 ATP2A2 488 broad.mit.edu 37 12 110783811 110783811 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr12:110783811C>T ENST00000395494.2 + 18 3229 c.2666C>T c.(2665-2667)tCc>tTc p.S889F ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S916F P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 916 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGCAGCTTGTCCGAAAACCAG 0.572000 13 73 0 0 0.093190 0 0 RMND5B 64777 broad.mit.edu 37 5 177571094 177571094 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr5:177571094C>G ENST00000515098.1 + 8 1030 c.679C>G c.(679-681)Cgg>Ggg p.R227G RMND5B_ENST00000313386.4_Missense_Mutation_p.R227G|RMND5B_ENST00000542098.1_Missense_Mutation_p.R214G Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 227 p.R227W(1) endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCTTTGCTCGGCTGCACCA 0.637000 5 67 0 0 0.014758 0 0 CLEC11A 6320 broad.mit.edu 37 19 51228604 51228604 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr19:51228604C>T ENST00000599973.1 + 4 904 c.901C>T c.(901-903)Ccc>Tcc p.P301S CLEC11A_ENST00000250340.4_Silent_p.S284S Q9Y240 CLC11_HUMAN C-type lectin domain family 11, member A 164 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 7 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) ATCCGCTCAGCCCGGACCAGC 0.701000 6 15 0 0 0.029380 0 0 CAMK2B 816 broad.mit.edu 37 7 44298523 44298523 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr7:44298523G>A ENST00000395749.2 - 4 299 c.223C>T c.(223-225)Cgt>Tgt p.R75C CAMK2B_ENST00000457475.1_Missense_Mutation_p.R75C|CAMK2B_ENST00000440254.2_Missense_Mutation_p.R75C|CAMK2B_ENST00000350811.3_Missense_Mutation_p.R75C|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000258682.6_Missense_Mutation_p.R75C|CAMK2B_ENST00000358707.3_Missense_Mutation_p.R75C|CAMK2B_ENST00000347193.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000353625.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000346990.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000395747.2_Missense_Mutation_p.R75C NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 75 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TCGTGGAGACGCACTGTGGGG 0.612000 8 13 0 0 0.047766 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290803 141290803 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:141290803G>T ENST00000247452.3 - 3 1318 c.971C>A c.(970-972)aCt>aAt p.T324N NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 324 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ACTAGGAACAGTGTTGTTCAG 0.453000 HNSCC(46;0.14) 27 103 2.79863e-10 3.74773e-10 0.099896 1 0 CCSER1 401145 broad.mit.edu 37 4 91230499 91230499 + Missense_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr4:91230499T>A ENST00000509176.1 + 2 1352 c.1064T>A c.(1063-1065)cTa>cAa p.L355Q CCSER1_ENST00000432775.2_Missense_Mutation_p.L355Q|CCSER1_ENST00000333691.8_Missense_Mutation_p.L355Q NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 ATTGCTGAACTACCTGCTACA 0.408000 15 53 0 0 0.033300 0 0 MYH3 4621 broad.mit.edu 37 17 10537453 10537453 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr17:10537453A>G ENST00000583535.1 - 32 4490 c.4403T>C c.(4402-4404)cTg>cCg p.L1468P MYH3_ENST00000226209.7_Missense_Mutation_p.L1468P NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1468 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GGATGCCTCCAGCTCTGCTTG 0.507000 5 103 0 0 0.021553 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672764 141672764 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr7:141672764G>T ENST00000547270.1 - 1 809 c.726C>A c.(724-726)caC>caA p.H242Q NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 242 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GGGCTTTAATGTGGGCCTCCA 0.507000 16 50 2.31682e-05 2.72359e-05 0.024245 1 0 ZNF511 118472 broad.mit.edu 37 10 135125252 135125252 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr10:135125252G>T ENST00000359035.3 + 5 590 c.587G>T c.(586-588)gGa>gTa p.G196V ZNF511_ENST00000361518.5_Missense_Mutation_p.G196V|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.G131V Q8NB15 ZN511_HUMAN zinc finger protein 511 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) GGGGACAGTGGAGAGCGGTCA 0.627000 10 62 0.000673444 0.000751524 0.069234 1 0 CNST 163882 broad.mit.edu 37 1 246810486 246810486 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:246810486A>G ENST00000366513.4 + 9 1252 c.983A>G c.(982-984)cAt>cGt p.H328R CNST_ENST00000366512.3_Missense_Mutation_p.H328R|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 328 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GAAAGCCAACATACAGTGGAG 0.433000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 90 0 0 0.069288 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 62 0 0 0.009096 0 0 DACH2 117154 broad.mit.edu 37 X 85769325 85769325 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:85769325C>A ENST00000373131.1 + 2 695 c.532C>A c.(532-534)Cag>Aag p.Q178K DACH2_ENST00000373125.4_Missense_Mutation_p.Q191K|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.Q24K NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GGGAGTGTTGCAGGAAAATGC 0.448000 6 22 0.0293803 0.0301638 0.029380 1 0 ZNF845 91664 broad.mit.edu 37 19 53854728 53854728 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr19:53854728G>T ENST00000458035.1 + 4 917 c.800G>T c.(799-801)gGc>gTc p.G267V ZNF845_ENST00000595091.1_Missense_Mutation_p.G267V NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TGTCACACTGGCAAGAAACCT 0.393000 7 61 2.7689e-08 3.52405e-08 0.029380 1 0 HOXB1 3211 broad.mit.edu 37 17 46607756 46607756 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr17:46607756C>G ENST00000239174.6 - 1 603 c.511G>C c.(511-513)Gaa>Caa p.E171Q HOXB1_ENST00000577092.1_Missense_Mutation_p.E171Q NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 171 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTGTTAGGTTCTGAAGGGCAG 0.602000 7 40 0 0 0.029380 0 0 IRX4 50805 broad.mit.edu 37 5 1882049 1882049 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr5:1882049A>T ENST00000505790.1 - 3 626 c.170T>A c.(169-171)cTg>cAg p.L57Q IRX4_ENST00000513692.1_Missense_Mutation_p.L57Q|IRX4_ENST00000231357.2_Missense_Mutation_p.L57Q NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 57 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CGCGGTGGCCAGCAGCCGGCT 0.731000 4 6 0 0 0.009096 0 0 GFRAL 389400 broad.mit.edu 37 6 55196548 55196548 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr6:55196548C>A ENST00000340465.2 + 2 144 c.58C>A c.(58-60)Caa>Aaa p.Q20K NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 20 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATACACTTCCCAAACCAATAA 0.348000 3 31 6.4e-05 7.30074e-05 0.004672 1 0 CCNY 219771 broad.mit.edu 37 10 35842027 35842027 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr10:35842027C>T ENST00000374704.4 + 8 840 c.660C>T c.(658-660)atC>atT p.I220I CCNY_ENST00000339497.5_Silent_p.I195I|CCNY_ENST00000374706.1_Silent_p.I166I|CCNY_ENST00000265375.9_Silent_p.I166I|CCNY_ENST00000492478.1_3'UTR NM_145012.4 NP_659449.3 Q8ND76 CCNY_HUMAN cyclin Y 220 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 TAGGGGCGATCCTGCTGGCCT 0.512000 8 83 0 0 0.038147 0 0 MUC4 4585 broad.mit.edu 37 3 195515885 195515885 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr3:195515885C>T ENST00000463781.3 - 2 3025 c.2566G>A c.(2566-2568)Gcc>Acc p.A856T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A856T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 861 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACTGGGATGGCACCATGACTG 0.577000 6 45 0 0 0.029380 0 0 PREX2 80243 broad.mit.edu 37 8 69021837 69021837 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr8:69021837T>C ENST00000288368.4 + 25 3402 c.3125T>C c.(3124-3126)aTg>aCg p.M1042T NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1042 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GAGGTGGAGATGTGTGTTTGT 0.363000 12 37 0 0 0.093190 0 0 PIGB 9488 broad.mit.edu 37 15 55613537 55613537 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr15:55613537A>T ENST00000164305.5 + 3 657 c.366A>T c.(364-366)gcA>gcT p.A122A PIGB_ENST00000539642.1_Intron NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 122 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) TAATCTTTGCAAGCATTTACA 0.328000 5 10 0 0 0.038147 0 0 MET 4233 broad.mit.edu 37 7 116412044 116412044 + Splice_Site SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr7:116412044G>A ENST00000397752.3 + 14 3228 c.e14+1 MET_ENST00000318493.6_Splice_Site NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.982_1028del47(4)|p.?(3) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTTCCAGAAGGTATATTTCAG 0.343000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 8 22 0 0 0.047766 0 0 DGKK 139189 broad.mit.edu 37 X 50213490 50213490 + RNA SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:50213490G>T ENST00000376025.2 - 0 247 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) ACAGGGACCTGGAGCAAGCTC 0.672000 12 137 0.000978159 0.00106834 0.080935 1 0 ERCC6L 54821 broad.mit.edu 37 X 71424945 71424945 + Silent SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:71424945A>G ENST00000373657.1 - 3 3905 c.3303T>C c.(3301-3303)gtT>gtC p.V1101V PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.V1224V Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 1224 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) CAAGCGCTTTAACTAAGCAGT 0.373000 4 45 0 0 0.009096 0 0 CCDC147 159686 broad.mit.edu 37 10 106121912 106121912 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr10:106121912A>T ENST00000369704.3 + 3 557 c.423A>T c.(421-423)tcA>tcT p.S141S CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 141 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CTGGACTGTCAATGGACCAGC 0.488000 3 8 0 0 0.004672 0 0 NBEAP1 606 broad.mit.edu 37 15 20876452 20876452 + RNA SNP G G A rs6422239 by1000genomes TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr15:20876452G>A ENST00000556948.1 - 0 148 CTTTGCAGGTGTATGTATCCA 0.333000 4 48 0 0 0.009096 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900386 151900386 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:151900386C>T ENST00000393900.3 - 3 768 c.415G>A c.(415-417)Gtc>Atc p.V139I CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.V139I|MAGEA12_ENST00000393869.3_Missense_Mutation_p.V139I NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 139 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTGATGACACTCCCCAGC 0.502000 16 181 0 0 0.033300 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303721 151303721 + Silent SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chrX:151303721T>C ENST00000370323.4 - 4 688 c.372A>G c.(370-372)ccA>ccG p.P124P MAGEA10_ENST00000244096.3_Silent_p.P124P|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 124 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACTCACTGTCTGGCAGGACCT 0.502000 18 149 0 0 0.038395 0 0 FAT3 120114 broad.mit.edu 37 11 92615964 92615964 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:92615964G>A ENST00000298047.6 + 23 12359 c.12342G>A c.(12340-12342)gtG>gtA p.V4114V FAT3_ENST00000533797.1_Silent_p.V449V|FAT3_ENST00000409404.2_Silent_p.V4114V|FAT3_ENST00000525166.1_Silent_p.V3964V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4114 EGF-like 4; calcium-binding (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTCCTGCGTGAACGTGTTCG 0.637000 TCGA Ovarian(4;0.039) 5 12 0 0 0.021553 0 0 ALX4 60529 broad.mit.edu 37 11 44289169 44289169 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:44289169A>G ENST00000329255.3 - 3 884 c.781T>C c.(781-783)Tgg>Cgg p.W261R NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 261 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 TTCTGGAACCAGACCTACAAG 0.577000 20 69 0 0 0.055883 0 0 COL15A1 1306 broad.mit.edu 37 9 101787221 101787221 + Silent SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr9:101787221T>A ENST00000375001.3 + 15 2343 c.1920T>A c.(1918-1920)gtT>gtA p.V640V NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 640 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GAACTGATGTTTTCATGGGAC 0.567000 11 45 0 0 0.069234 0 0 RAG1 5896 broad.mit.edu 37 11 36596428 36596428 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:36596428C>A ENST00000299440.5 + 2 1686 c.1574C>A c.(1573-1575)cCt>cAt p.P525H NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 525 P -> S (in dbSNP:rs4151032). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TGGCAGCCACCTCTGAAGAAT 0.493000 Familial Hemophagocytic Lymphohistiocytosis 20 77 2.4624e-09 3.26904e-09 0.049695 1 0 ZFPM2 23414 broad.mit.edu 37 8 106814552 106814552 + Nonsense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr8:106814552G>T ENST00000407775.2 + 8 2492 c.2242G>T c.(2242-2244)Gag>Tag p.E748* ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E479*|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E616*|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E616*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 748 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GTGCCTACCTGAGCAGGAACA 0.522000 4 23 0.00024832 0.000279133 0.009096 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68264919 68264919 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr14:68264919G>A ENST00000347230.4 - 11 2198 c.2060C>T c.(2059-2061)gCc>gTc p.A687V ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A687V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 687 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CCTGAGGAAGGCCCCTATTGC 0.483000 9 55 0 0 0.047766 0 0 INTS4P2 644619 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 2 4 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241029 131241030 + In_Frame_Ins INS - - GGCGAC rs11277659 by1000genomes TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:131241029_131241030insGGCGAC ENST00000541194.1 - 1 346_347 c.89_90insGTCGCC c.(88-90)ctc>cGTCGCCtc p.29_30insRR PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 29 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) CATTCTGGGAGggcgacggcga 0.752 7 5 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T rs77980773 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:88512304_88512305insT ENST00000552810.1 - 17 2009_2010 c.1666_1667insA c.(1666-1668)tcgfs p.S556fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 556 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I558fs*20(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CATTTGACGAATTTTTTTTTTC 0.312 2 4 --- --- --- --- SPRY2 10253 broad.mit.edu 37 13 80911047 80911048 + In_Frame_Ins INS - - TTT TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:80911047_80911048insTTT ENST00000377102.1 - 2 1770_1771 c.793_794insAAA c.(793-795)ttt>AAAttt p.264_265insK SPRY2_ENST00000377104.3_In_Frame_Ins_p.264_265insK|SPRY2_ENST00000540649.1_In_Frame_Ins_p.264_265insK O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 264 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) ACACCATAAACAAGGCAAAAAG 0.490 10 60 --- --- --- --- IRX3 79191 broad.mit.edu 37 16 54319061 54319062 + Frame_Shift_Ins INS - - C rs140590187 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr16:54319061_54319062insC ENST00000329734.3 - 2 1443_1444 c.731_732insG c.(730-732)gctfs p.A244fs NM_024336.2 NP_077312.2 P78415 IRX3_HUMAN iroquois homeobox 3 244 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 cgtcagccaggccctcgccccc 0.678 4 9 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 7 141 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407165 89407165 + RNA DEL T T - rs112016970 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr11:89407165delT ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CATCAATGACTTTTTTTTTTT 0.303 4 6 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T rs77980773 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr12:88512304_88512305insT ENST00000552810.1 - 17 2009_2010 c.1666_1667insA c.(1666-1668)tcgfs p.S556fs CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 556 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I558fs*20(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CATTTGACGAATTTTTTTTTTC 0.312 2 4 --- --- --- --- SPRY2 10253 broad.mit.edu 37 13 80911047 80911048 + In_Frame_Ins INS - - TTT TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr13:80911047_80911048insTTT ENST00000377102.1 - 2 1770_1771 c.793_794insAAA c.(793-795)ttt>AAAttt p.264_265insK SPRY2_ENST00000377104.3_In_Frame_Ins_p.264_265insK|SPRY2_ENST00000540649.1_In_Frame_Ins_p.264_265insK O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 264 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) ACACCATAAACAAGGCAAAAAG 0.490 10 60 --- --- --- --- IRX3 79191 broad.mit.edu 37 16 54319061 54319062 + Frame_Shift_Ins INS - - C rs140590187 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe 433ea257-d724-405e-b6ea-066a4ca443d1 g.chr16:54319061_54319062insC ENST00000329734.3 - 2 1443_1444 c.731_732insG c.(730-732)gctfs p.A244fs NM_024336.2 NP_077312.2 P78415 IRX3_HUMAN iroquois homeobox 3 244 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 cgtcagccaggccctcgccccc 0.678 4 9 --- --- --- ---