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 RBM39 9584 broad.mit.edu 37 20 34302145 34302145 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:34302145G>A ENST00000361162.6 - 11 1442 c.1058C>T c.(1057-1059)aCa>aTa p.T353I RBM39_ENST00000528062.3_Missense_Mutation_p.T331I|RBM39_ENST00000407261.4_Missense_Mutation_p.T196I|RBM39_ENST00000253363.6_Missense_Mutation_p.T353I NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 353 Activating domain (By similarity).|Interaction with JUN (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding p.T353I(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) ACGACCAGTTGTTCCCAAATC 0.408000 8 66 0 0 0.006214 0 0 APOA5 116519 broad.mit.edu 37 11 116662530 116662530 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:116662530G>A ENST00000542499.1 - 2 119 c.47C>T c.(46-48)tCa>tTa p.S16L APOA5_ENST00000227665.4_Missense_Mutation_p.S16L NM_001166598.1|NM_052968.4 NP_001160070.1|NP_443200.2 Q6Q788 APOA5_HUMAN apolipoprotein A-V 16 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) AGACCCACCTGAAAGAAGAGC 0.632000 OREG0003485|OREG0021366 type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 30 0 0 0.009096 0 0 GK2 2712 broad.mit.edu 37 4 80328806 80328806 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:80328806G>C ENST00000358842.3 - 1 566 c.549C>G c.(547-549)atC>atG p.I183M NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 183 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TCAAACTCCAGATAAGCCATG 0.403000 4 80 0 0 0.009096 0 0 P4HA1 5033 broad.mit.edu 37 10 74803657 74803657 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:74803657C>G ENST00000263556.3 - 9 1376 c.1136G>C c.(1135-1137)aGa>aCa p.R379T P4HA1_ENST00000307116.2_Intron|P4HA1_ENST00000373008.2_Missense_Mutation_p.R379T|P4HA1_ENST00000412021.2_Intron|P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000440381.1_Missense_Mutation_p.R379T NM_000917.3 NP_000908.2 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 379 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTTAGATACTCTGTACTGTGC 0.398000 33 233 0 0 0.012213 0 0 HSPG2 3339 broad.mit.edu 37 1 22170783 22170783 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:22170783C>T ENST00000374695.3 - 65 8553 c.8474G>A c.(8473-8475)gGa>gAa p.G2825E NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2825 Ig-like C2-type 13. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGTGGGGCTCCACCTGGGGC 0.682000 10 67 0 0 0.008291 0 0 GPC6 10082 broad.mit.edu 37 13 94938726 94938726 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr13:94938726C>A ENST00000377047.4 + 5 1616 c.1001C>A c.(1000-1002)tCt>tAt p.S334Y NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 334 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) ATGCAGGTGTCTGCAAAGGTA 0.418000 5 41 0.00116845 0.00123041 0.001168 1 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362900 105362900 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:105362900G>C ENST00000369774.4 - 15 2351 c.2075C>G c.(2074-2076)tCa>tGa p.S692* SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.S559*|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.S664*|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.S527*|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 692 Ser-rich. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GGTGATGGATGAGGAAAAGGA 0.542000 26 144 0 0 0.003330 0 0 MAML3 55534 broad.mit.edu 37 4 140811093 140811093 + Silent SNP C C T rs72161425 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:140811093C>T ENST00000509479.2 - 2 2353 c.1497G>A c.(1495-1497)caG>caA p.Q499Q MAML3_ENST00000327122.5_Silent_p.Q343Q|MAML3_ENST00000398940.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 499 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.527000 3 46 0 0 0.009096 0 0 LMBRD2 92255 broad.mit.edu 37 5 36122518 36122518 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:36122518C>A ENST00000296603.4 - 9 1446 c.984G>T c.(982-984)caG>caT p.Q328H NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 328 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCAAAAGAATCTGCCATTGTA 0.408000 4 40 0.00909568 0.00943507 0.009096 1 0 CCDC129 223075 broad.mit.edu 37 7 31683300 31683300 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:31683300G>A ENST00000319386.3 + 11 2865 c.1872G>A c.(1870-1872)ttG>ttA p.L624L CCDC129_ENST00000451887.2_Silent_p.L798L|CCDC129_ENST00000409210.1_Silent_p.L680L|CCDC129_ENST00000407970.3_Silent_p.L772L Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 772 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACAAGACCTTGACACATGGGC 0.502000 17 79 0 0 0.004990 0 0 DNAH5 1767 broad.mit.edu 37 5 13883188 13883188 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:13883188G>A ENST00000265104.4 - 20 3103 c.2999C>T c.(2998-3000)tCt>tTt p.S1000F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1000 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTCATGTTAGAGGCACTGTT 0.418000 Kartagener syndrome 13 92 0 0 0.001368 0 0 PCDH17 27253 broad.mit.edu 37 13 58208221 58208221 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr13:58208221C>T ENST00000377918.3 + 1 1567 c.1541C>T c.(1540-1542)tCg>tTg p.S514L NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 514 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.S514L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATCCTGCCCTCGCACATCGGC 0.592000 8 39 0 0 0.003080 0 0 BAGE2 85319 broad.mit.edu 37 21 11038927 11038927 + RNA SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr21:11038927C>T ENST00000470054.1 - 0 1276 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACACATCTGCCTTGCTTATGT 0.428000 14 429 0 0 0.002450 0 0 ELOF1 84337 broad.mit.edu 37 19 11665079 11665079 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:11665079G>A ENST00000586683.1 - 2 141 c.84C>T c.(82-84)ttC>ttT p.F28F ELOF1_ENST00000587806.1_Silent_p.F49F|ELOF1_ENST00000589171.1_Silent_p.F28F|ELOF1_ENST00000591674.1_Silent_p.F35F|ELOF1_ENST00000586120.1_Silent_p.F28F|ELOF1_ENST00000591912.1_Silent_p.F28F|ELOF1_ENST00000590700.1_Silent_p.F28F|ELOF1_ENST00000252445.3_Silent_p.F28F P60002 ELOF1_HUMAN elongation factor 1 homolog (S. cerevisiae) 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding endometrium(3)|lung(2) 5 CGTGGTTGCAGAAGGGGCAGG 0.572000 14 114 0 0 0.003163 0 0 ZBTB17 7709 broad.mit.edu 37 1 16273491 16273491 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:16273491G>C ENST00000537142.1 - 3 311 c.65C>G c.(64-66)tCa>tGa p.S22* ZBTB17_ENST00000448462.2_Intron|ZBTB17_ENST00000375743.4_Silent_p.L111L|ZBTB17_ENST00000375733.2_Silent_p.L111L|ZBTB17_ENST00000479282.1_5'UTR NM_001242884.1 NP_001229813.1 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 0 BTB. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CAAGTGACTTGAGGGCATGGC 0.602000 8 45 0 0 0.003080 0 0 ADRA2C 152 broad.mit.edu 37 4 3768939 3768939 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:3768939C>T ENST00000330055.5 + 1 815 c.606C>T c.(604-606)tgC>tgT p.C202C ADRA2C_ENST00000509482.1_Silent_p.C202C NM_000683.3 NP_000674.2 P18825 ADA2C_HUMAN adrenoceptor alpha 2C 202 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) ACCCGCAGTGCGGCCTCAACG 0.672000 3 25 0 0 0.004672 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056145 48056145 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr15:48056145G>C ENST00000316364.5 + 10 1285 c.846G>C c.(844-846)ctG>ctC p.L282L SEMA6D_ENST00000358066.4_Silent_p.L282L|SEMA6D_ENST00000558816.1_Silent_p.L282L|SEMA6D_ENST00000389433.2_Silent_p.L282L|SEMA6D_ENST00000558014.1_Silent_p.L282L|SEMA6D_ENST00000389428.3_Silent_p.L282L|SEMA6D_ENST00000354744.4_Silent_p.L282L|SEMA6D_ENST00000389432.2_Silent_p.L282L|SEMA6D_ENST00000389425.3_Silent_p.L282L|SEMA6D_ENST00000536845.2_Silent_p.L282L|SEMA6D_ENST00000355997.3_Silent_p.L282L|SEMA6D_ENST00000537942.1_Silent_p.L282L NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 282 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AGGCTCGGCTGAACTGTTCTG 0.488000 11 86 0 0 0.008291 0 0 KRT13 3860 broad.mit.edu 37 17 39659616 39659616 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:39659616G>A ENST00000246635.3 - 3 704 c.658C>T c.(658-660)Ctg>Ttg p.L220L KRT13_ENST00000336861.3_Silent_p.L220L|KRT13_ENST00000587544.1_Silent_p.L220L NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 220 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) GTCTTAGACAGAGTGAGCTCA 0.527000 20 111 0 0 0.010504 0 0 TMEM178A 130733 broad.mit.edu 37 2 39893244 39893244 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:39893244G>C ENST00000281961.2 + 1 186 c.130G>C c.(130-132)Gag>Cag p.E44Q TMEM178A_ENST00000482239.1_Intron NM_152390.2 NP_689603.2 transmembrane protein 178A GGAGAGCTGCGAGCGCAGCCG 0.741000 5 24 0 0 0.001168 0 0 RCN3 57333 broad.mit.edu 37 19 50042435 50042435 + Splice_Site SNP C C T rs151007768 byFrequency TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:50042435C>T ENST00000270645.3 + 5 1125 c.679_splice c.e5+1 p.I226_splice NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 226 EF-hand 4. endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) AGGAGTACATCGGTGAGTGGG 0.577000 7 53 0 0 0.001984 0 0 MYH7 4625 broad.mit.edu 37 14 23897712 23897712 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:23897712C>T ENST00000355349.3 - 15 1737 c.1575G>A c.(1573-1575)gaG>gaA p.E525E NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 525 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GAGGCACCTTCTCGATGAGGT 0.502000 7 50 0 0 0.001984 0 0 GCNT2 2651 broad.mit.edu 37 6 10529667 10529667 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:10529667G>A ENST00000379597.3 + 1 1079 c.523G>A c.(523-525)Gaa>Aaa p.E175K GCNT2_ENST00000495262.1_Missense_Mutation_p.E175K|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 175 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GAACTGCCTGGAAGACCTTGT 0.507000 21 39 0 0 0.002299 0 0 POU2F2 5452 broad.mit.edu 37 19 42600050 42600050 + Missense_Mutation SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:42600050T>C ENST00000389341.5 - 9 713 c.647A>G c.(646-648)tAc>tGc p.Y216C POU2F2_ENST00000529067.1_Missense_Mutation_p.Y216C|POU2F2_ENST00000560398.1_Missense_Mutation_p.Y238C|POU2F2_ENST00000560558.1_Missense_Mutation_p.Y177C|POU2F2_ENST00000529952.1_Missense_Mutation_p.Y232C|POU2F2_ENST00000526816.2_Missense_Mutation_p.Y232C|POU2F2_ENST00000342301.4_Missense_Mutation_p.Y232C|POU2F2_ENST00000533720.1_Missense_Mutation_p.Y216C NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 232 POU-specific. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GTCGTTGCCGTAGAGCTTGCC 0.652000 22 105 0 0 0.002299 0 0 XK 7504 broad.mit.edu 37 X 37587032 37587032 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:37587032G>C ENST00000378616.3 + 3 855 c.652G>C c.(652-654)Gag>Cag p.E218Q TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 218 amino acid transport integral to membrane protein binding|transporter activity p.E218K(1) breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) GAGGAGCTTTGAGATTGCCAC 0.458000 8 17 0 0 0.004482 0 0 MUTYH 4595 broad.mit.edu 37 1 45797203 45797203 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:45797203G>A ENST00000450313.1 - 13 1427 c.1212C>T c.(1210-1212)ttC>ttT p.F404F MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000355498.2_Silent_p.F376F|MUTYH_ENST00000372098.3_Silent_p.F401F|MUTYH_ENST00000456914.2_Silent_p.F376F|MUTYH_ENST00000529984.1_Silent_p.F71F|MUTYH_ENST00000448481.1_Silent_p.F387F|MUTYH_ENST00000372100.5_Silent_p.F387F|MUTYH_ENST00000372115.3_Silent_p.F390F|MUTYH_ENST00000488731.2_Silent_p.F71F|MUTYH_ENST00000372104.1_Silent_p.F376F|MUTYH_ENST00000354383.6_Silent_p.F377F|MUTYH_ENST00000528332.2_Silent_p.F85F|MUTYH_ENST00000372110.3_Silent_p.F391F NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 401 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) TCACGGACGGGAACTCCCACA 0.657000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 15 56 0 0 0.003163 0 0 TTC3 7267 broad.mit.edu 37 21 38525425 38525425 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr21:38525425G>C ENST00000399017.2 + 27 5335 c.2588G>C c.(2587-2589)aGa>aCa p.R863T TTC3_ENST00000540756.1_Missense_Mutation_p.R553T|TTC3_ENST00000355666.1_Missense_Mutation_p.R863T|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.R863T NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 863 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TTTTCTAGCAGAAATTTTCTA 0.348000 18 86 0 0 0.006122 0 0 RGPD4 285190 broad.mit.edu 37 2 108487257 108487257 + Nonsense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:108487257C>T ENST00000408999.3 + 20 2874 c.2797C>T c.(2797-2799)Caa>Taa p.Q933* RGPD4_ENST00000354986.4_Nonsense_Mutation_p.Q933* NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 933 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ACCAGGAAATCAAGAAAAGGA 0.413000 54 258 0 0 0.003610 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 62 0 0 0.009096 0 0 PCBP2 5094 broad.mit.edu 37 12 53849783 53849783 + Nonsense_Mutation SNP G G T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:53849783G>T ENST00000603815.1 + 5 591 c.241G>T c.(241-243)Gag>Tag p.E81* PCBP2_ENST00000552819.1_Nonsense_Mutation_p.E81*|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Nonsense_Mutation_p.E81*|PCBP2_ENST00000541275.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000455667.3_Nonsense_Mutation_p.E81*|PCBP2_ENST00000447282.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000439930.3_Nonsense_Mutation_p.E81*|PCBP2_ENST00000437231.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000549863.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000548933.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000359462.5_Nonsense_Mutation_p.E81*|PCBP2_ENST00000359282.5_Nonsense_Mutation_p.E81*|PCBP2_ENST00000546463.1_Nonsense_Mutation_p.E81* NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 81 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 CAAACTGGAAGAGGTTTGTTG 0.413000 15 189 2.35188e-11 2.54406e-11 0.006122 1 0 ATP7A 538 broad.mit.edu 37 X 77243873 77243873 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:77243873G>A ENST00000341514.6 + 3 411 c.256G>A c.(256-258)Gac>Aac p.D86N ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.D86N NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 86 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TGTTTTAACTGACACCTTGTT 0.443000 72 166 0 0 0.003610 0 0 PLAT 5327 broad.mit.edu 37 8 42038171 42038171 + Nonsense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:42038171G>A ENST00000220809.4 - 10 1178 c.922C>T c.(922-924)Cag>Tag p.Q308* PLAT_ENST00000352041.3_Nonsense_Mutation_p.Q262*|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429089.2_Nonsense_Mutation_p.Q308*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.Q245*|PLAT_ENST00000524009.1_Nonsense_Mutation_p.Q219*|PLAT_ENST00000429710.2_Nonsense_Mutation_p.Q182* NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 308 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ATGCGAAACTGAGGCTGGCTG 0.632000 8 35 0 0 0.004482 0 0 DUSP8 1850 broad.mit.edu 37 11 1579116 1579116 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:1579116G>A ENST00000397374.3 - 6 856 c.729C>T c.(727-729)atC>atT p.I243I DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Silent_p.I243I NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 243 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) GACAGTGGACGATGACTTGGC 0.617000 13 60 0 0 0.001855 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740227 176740227 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:176740227C>T ENST00000367662.3 + 17 5790 c.4626C>T c.(4624-4626)ctC>ctT p.L1542L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1542 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTCACTGCCTCCAGGACAACC 0.488000 7 61 0 0 0.001984 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513306 50513306 + Silent SNP C C T rs143012740 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:50513306C>T ENST00000419119.1 - 2 3233 c.1680G>A c.(1678-1680)gtG>gtA p.V560V FIGNL1_ENST00000433017.1_Silent_p.V560V|FIGNL1_ENST00000395556.2_Silent_p.V560V|FIGNL1_ENST00000356889.4_Silent_p.V560V Q6PIW4 FIGL1_HUMAN fidgetin-like 1 560 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) AAAGCCTTTTCACCAATCTTC 0.433000 4 92 0 0 0.009096 0 0 WNT3 7473 broad.mit.edu 37 17 44895960 44895960 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:44895960C>G ENST00000225512.5 - 1 166 c.4G>C c.(4-6)Gag>Cag p.E2Q NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 2 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGGTGGGGCTCCATTAGAAGA 0.602000 2 9 0 0 0.004672 0 0 TRPM4 54795 broad.mit.edu 37 19 49692319 49692319 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:49692319C>T ENST00000252826.5 + 14 2116 c.1990C>T c.(1990-1992)Cgt>Tgt p.R664C TRPM4_ENST00000427978.2_Missense_Mutation_p.R664C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R310C NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 664 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) AGCTGACGCCCGTGCCTTCTT 0.622000 25 108 0 0 0.002780 0 0 RAD50 10111 broad.mit.edu 37 5 131930643 131930643 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:131930643G>A ENST00000378823.3 + 12 2277 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K RAD50_ENST00000265335.6_Missense_Mutation_p.E626K NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 626 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCCAGTTACGAAGACAAGCT 0.338000 Homologous recombination 12 63 0 0 0.001368 0 0 OR56A1 120796 broad.mit.edu 37 11 6048851 6048851 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:6048851C>G ENST00000316650.5 - 1 120 c.84G>C c.(82-84)caG>caC p.Q28H NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGCCAACTCTGGAAGTTGG 0.577000 7 111 0 0 0.001984 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10204163 10204163 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:10204163C>T ENST00000253109.4 - 5 1322 c.1084G>A c.(1084-1086)Gat>Aat p.D362N ANGPTL6_ENST00000592641.1_Missense_Mutation_p.D362N|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.D322N NM_031917.2 NP_114123.2 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 362 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1) 12 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) GAGAAGCCATCATAGTGGGCA 0.622000 12 58 0 0 0.010729 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176795 140176795 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:140176795C>T ENST00000526136.1 + 1 2246 c.2246C>T c.(2245-2247)tCt>tTt p.S749F PCDHA2_ENST00000520672.2_Missense_Mutation_p.S749F|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S749F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 p.S749Y(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGCTGGTCTTACTCGCAG 0.672000 19 77 0 0 0.007413 0 0 INPP5B 3633 broad.mit.edu 37 1 38345771 38345771 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:38345771G>A ENST00000373023.2 - 15 1860 c.1767C>T c.(1765-1767)gaC>gaT p.D589D INPP5B_ENST00000373026.1_Silent_p.D589D|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Silent_p.D509D|INPP5B_ENST00000373027.1_Silent_p.D345D NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 589 GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence). regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TATCCCAGTCGTCAGAGCCCG 0.478000 19 78 0 0 0.007413 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377856 50377856 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:50377856G>C ENST00000376020.2 - 4 1242 c.1217C>G c.(1216-1218)aCa>aGa p.T406R SHROOM4_ENST00000289292.7_Missense_Mutation_p.T406R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.T290R NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 406 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCGATGCCCTGTGGGTCCTAT 0.567000 5 11 0 0 0.000602 0 0 CCR6 1235 broad.mit.edu 37 6 167550802 167550802 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:167550802G>A ENST00000341935.5 + 3 1636 c.1084G>A c.(1084-1086)Gag>Aag p.E362K CCR6_ENST00000400926.2_Missense_Mutation_p.E362K|CCR6_ENST00000349984.4_Missense_Mutation_p.E362K NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 362 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) GCAGACCAGTGAGACCGCAGA 0.468000 5 52 0 0 0.001984 0 0 STK39 27347 broad.mit.edu 37 2 169023849 169023849 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:169023849G>A ENST00000355999.4 - 3 1095 c.390C>T c.(388-390)gtC>gtT p.V130V NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 130 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 GTTCATCTTTGACCACAAAAG 0.378000 4 37 0 0 0.000602 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227268658 227268658 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:227268658C>A ENST00000366769.3 - 17 3707 c.2416G>T c.(2416-2418)Gat>Tat p.D806Y CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D725Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D806Y NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 806 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TCTGCTAGATCTTTAACCTCT 0.358000 18 64 1.99824e-07 2.14482e-07 0.004990 1 0 ATXN2 6311 broad.mit.edu 37 12 111956093 111956093 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:111956093G>A ENST00000377617.3 - 9 1766 c.1605C>T c.(1603-1605)ttC>ttT p.F535F ATXN2_ENST00000389153.4_Silent_p.F270F|ATXN2_ENST00000550104.1_Silent_p.F535F|ATXN2_ENST00000542287.2_Silent_p.F270F|ATXN2_ENST00000535949.1_Silent_p.F246F NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 535 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 AATTCGGGTTGAAATCTGAAG 0.423000 15 73 0 0 0.004990 0 0 ZNF599 148103 broad.mit.edu 37 19 35251156 35251156 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:35251156G>C ENST00000329285.7 - 4 923 c.550C>G c.(550-552)Caa>Gaa p.Q184E NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CCTGGTCCTTGAGAGTCACAC 0.473000 7 127 0 0 0.001984 0 0 MB21D2 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:192516720G>C ENST00000392452.2 - 2 1251 c.931C>G c.(931-933)Cag>Gag p.Q311E NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 311 p.Q309E(2) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TTGCAGGCCTGATAGGCCTGC 0.557000 4 46 0 0 0.009096 0 0 GLRB 2743 broad.mit.edu 37 4 158057783 158057783 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:158057783C>T ENST00000264428.4 + 5 730 c.460C>T c.(460-462)Cat>Tat p.H154Y GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.H154Y|GLRB_ENST00000509282.1_Missense_Mutation_p.H154Y NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 154 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity p.H154Y(1) central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TGCCAATTTTCATGATGTGAC 0.353000 17 106 0 0 0.007413 0 0 EPHB1 2047 broad.mit.edu 37 3 134911464 134911464 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:134911464G>C ENST00000398015.3 + 11 2299 c.1929G>C c.(1927-1929)aaG>aaC p.K643N EPHB1_ENST00000493838.1_Missense_Mutation_p.K204N NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 643 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGCCAGGCAAGAGGGAAATCT 0.527000 10 37 0 0 0.006214 0 0 RARS2 57038 broad.mit.edu 37 6 88251661 88251661 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:88251661G>C ENST00000369536.5 - 8 632 c.587C>G c.(586-588)tCc>tGc p.S196C NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 196 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) TAGAGGATTGGACTGCAGTTT 0.363000 4 26 0 0 0.001984 0 0 LCN6 158062 broad.mit.edu 37 9 139639631 139639631 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:139639631C>T ENST00000435202.1 - 4 372 c.373G>A c.(373-375)Gag>Aag p.E125K LCN6_ENST00000476567.1_Missense_Mutation_p.E50K|LCN6_ENST00000471509.1_5'UTR|LCN6_ENST00000480584.1_5'UTR|LCN6_ENST00000341206.4_Missense_Mutation_p.E135K P62502 LCN6_HUMAN lipocalin 6 135 single fertilization extracellular region binding lung(3)|upper_aerodigestive_tract(1) 4 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) CTGTACAGCTCCACGGTGTTG 0.627000 10 51 0 0 0.008291 0 0 SRCAP 10847 broad.mit.edu 37 16 30749246 30749246 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:30749246G>A ENST00000262518.4 + 34 8270 c.7885G>A c.(7885-7887)Gag>Aag p.E2629K SRCAP_ENST00000395059.2_Missense_Mutation_p.E2567K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2471K NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2629 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGATTCTGCTGAGGGGACCAC 0.582000 16 80 0 0 0.004007 0 0 SEPP1 6414 broad.mit.edu 37 5 42808335 42808335 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:42808335G>A ENST00000514985.1 - 2 377 c.121C>T c.(121-123)Cca>Tca p.P41S SEPP1_ENST00000506577.1_Missense_Mutation_p.P41S|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.P41S|SEPP1_ENST00000507920.1_Missense_Mutation_p.P41S NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 41 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TTTAGCATTGGATCTTGATCT 0.502000 6 37 0 0 0.001168 0 0 KCNIP4 80333 broad.mit.edu 37 4 20884283 20884283 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:20884283G>A ENST00000382152.2 - 2 278 c.111C>T c.(109-111)ctC>ctT p.L37L KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 37 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) AGAGCTTCATGAGCCGCTCTT 0.448000 3 31 0 0 0.009096 0 0 IPO13 9670 broad.mit.edu 37 1 44422118 44422118 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:44422118C>T ENST00000372343.3 + 3 1610 c.948C>T c.(946-948)ggC>ggT p.G316G IPO13_ENST00000492152.1_3'UTR NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 316 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TGGCCCTGGGCGAGAACCACT 0.597000 16 52 0 0 0.003163 0 0 CSHL1 1444 broad.mit.edu 37 17 61988231 61988231 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:61988231G>C ENST00000392824.4 - 2 125 c.64C>G c.(64-66)Caa>Gaa p.Q22E CSHL1_ENST00000309894.5_Missense_Mutation_p.Q22E|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q22E|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000438387.2_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 22 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 CCAGCCTCTTGAAGCCAGGGC 0.612000 5 57 0 0 0.001168 0 0 CHRNG 1146 broad.mit.edu 37 2 233405103 233405103 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:233405103G>A ENST00000389494.3 + 3 229 c.208G>A c.(208-210)Gaa>Aaa p.E70K CHRNG_ENST00000389492.3_Missense_Mutation_p.E70K NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 70 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CGAGCGAGAGGAAGCCCTCAC 0.632000 17 78 0 0 0.004990 0 0 SERINC2 347735 broad.mit.edu 37 1 31897634 31897634 + Silent SNP C C T rs35593581 byFrequency TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:31897634C>T ENST00000373710.1 + 4 606 c.333C>T c.(331-333)ttC>ttT p.F111F SERINC2_ENST00000373709.3_Silent_p.F102F|SERINC2_ENST00000536859.1_Silent_p.F106F|SERINC2_ENST00000536384.1_Silent_p.F106F|SERINC2_ENST00000491976.1_3'UTR NM_001199038.1 NP_001185967.1 Q96SA4 SERC2_HUMAN serine incorporator 2 102 F -> FF (in Ref. 3). integral to membrane cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 12 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) GCATGTGCTTCGCCACGGCGG 0.657000 3 22 0 0 0.004672 0 0 OR52E2 119678 broad.mit.edu 37 11 5080352 5080352 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:5080352G>A ENST00000321522.2 - 1 505 c.506C>T c.(505-507)cCc>cTc p.P169L NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCACAGAAGGGCAACCGCAA 0.418000 3 24 0 0 0.004672 0 0 DGKG 1608 broad.mit.edu 37 3 185882740 185882740 + Silent SNP G G A rs137961016 byFrequency TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:185882740G>A ENST00000265022.3 - 23 2702 c.2163C>T c.(2161-2163)acC>acT p.T721T DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000344484.4_Silent_p.T696T|DGKG_ENST00000544847.1_Silent_p.T662T|DGKG_ENST00000382164.4_Silent_p.T682T NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 721 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCTTCAGGCCGGTGTAGATCT 0.587000 13 52 0 0 0.001368 0 0 CELSR2 1952 broad.mit.edu 37 1 109815344 109815344 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:109815344C>A ENST00000271332.3 + 30 8198 c.8137C>A c.(8137-8139)Cag>Aag p.Q2713K CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2713 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCAAGACCAGCAGCATGGTGA 0.622000 12 50 0.000978159 0.00103395 0.010729 1 0 TOPBP1 11073 broad.mit.edu 37 3 133368367 133368367 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:133368367G>C ENST00000260810.5 - 10 1495 c.1364C>G c.(1363-1365)tCa>tGa p.S455* TOPBP1_ENST00000511439.1_5'UTR NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 455 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 AGGCTTATGTGAAACTGGAAT 0.393000 Other conserved DNA damage response genes 35 124 0 0 0.003755 0 0 LRIG2 9860 broad.mit.edu 37 1 113657144 113657144 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:113657144C>T ENST00000361127.4 + 15 2374 c.2176C>T c.(2176-2178)Cgt>Tgt p.R726C LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 726 Ig-like C2-type 3. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TCCTGCCCCTCGTCTCAACTG 0.498000 11 70 0 0 0.008291 0 0 GALNT3 2591 broad.mit.edu 37 2 166615260 166615260 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:166615260G>A ENST00000392701.3 - 6 1963 c.1188C>T c.(1186-1188)ttC>ttT p.F396F GALNT3_ENST00000409882.1_Silent_p.F134F NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 396 Catalytic subdomain B. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 AACTTACTCTGAAAGACATTT 0.308000 8 54 0 0 0.004482 0 0 FETUB 26998 broad.mit.edu 37 3 186358276 186358276 + Silent SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:186358276C>A ENST00000265029.3 + 1 128 c.27C>A c.(25-27)ctC>ctA p.L9L FETUB_ENST00000382136.3_Silent_p.L9L|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Silent_p.L9L|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382134.3_Silent_p.L9L NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 9 L -> P (in Ref. 6; AAH74734). extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CCCTGGCACTCTGCATCCTAG 0.597000 77 209 1.41257e-51 1.55215e-51 0.003610 1 0 CUBN 8029 broad.mit.edu 37 10 17164832 17164832 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:17164832C>G ENST00000377833.4 - 6 620 c.555G>C c.(553-555)caG>caC p.Q185H NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 185 EGF-like 2; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGCCTCCATTCTGGCAGCTCA 0.383000 12 45 0 0 0.001855 0 0 ENPEP 2028 broad.mit.edu 37 4 111397596 111397596 + Missense_Mutation SNP C C G rs147278588 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:111397596C>G ENST00000265162.5 + 1 368 c.26C>G c.(25-27)tCt>tGt p.S9C NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 9 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AGAGAGGGCTCTAAGAGATAC 0.433000 17 121 0 0 0.007413 0 0 SH3BP4 23677 broad.mit.edu 37 2 235949960 235949960 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:235949960G>A ENST00000409212.1 + 4 1054 c.547G>A c.(547-549)Gag>Aag p.E183K SH3BP4_ENST00000344528.4_Missense_Mutation_p.E183K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E183K Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 183 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CAGCCTGGATGAGCTGAATCC 0.493000 29 115 0 0 0.007291 0 0 TTC17 55761 broad.mit.edu 37 11 43436245 43436245 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:43436245G>C ENST00000039989.4 + 16 2184 c.2170G>C c.(2170-2172)Gag>Cag p.E724Q TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.E724Q NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 724 binding p.E724Q(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CAAATGTCCAGAGTGTGAAAA 0.438000 9 91 0 0 0.004482 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972554 92972554 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:92972554C>T ENST00000523629.1 - 12 2185 c.1731G>A c.(1729-1731)ggG>ggA p.G577G RUNX1T1_ENST00000520724.1_Silent_p.G540G|RUNX1T1_ENST00000422361.2_Silent_p.G540G|RUNX1T1_ENST00000396218.1_Silent_p.G550G|RUNX1T1_ENST00000360348.2_Silent_p.G540G|RUNX1T1_ENST00000265814.3_Silent_p.G577G|RUNX1T1_ENST00000436581.2_Silent_p.G588G|RUNX1T1_ENST00000518844.1_Silent_p.G550G NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 577 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCATCGGGCTCCCAGCCCCGC 0.622000 8 39 0 0 0.003080 0 0 FAT1 2195 broad.mit.edu 37 4 187532590 187532590 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:187532590G>C ENST00000441802.2 - 14 10012 c.9803C>G c.(9802-9804)tCa>tGa p.S3268* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3268 Cadherin 30. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACTTATTATTGAGTAGGTGAT 0.403000 HNSCC(5;0.00058) 7 27 0 0 0.003080 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377082 50377082 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:50377082G>A ENST00000376020.2 - 4 2016 c.1991C>T c.(1990-1992)tCt>tTt p.S664F SHROOM4_ENST00000289292.7_Missense_Mutation_p.S664F|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S548F NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 664 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCACTCGGAAGACCTAGCTCT 0.532000 9 17 0 0 0.006214 0 0 ARFRP1 10139 broad.mit.edu 37 20 62331810 62331810 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:62331810C>G ENST00000359715.4 - 7 1157 c.591G>C c.(589-591)caG>caC p.Q197H ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000324228.2_Missense_Mutation_p.Q197H|ARFRP1_ENST00000440854.1_3'UTR Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 197 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) TGATGTCCCTCTGCCGCGGCG 0.682000 3 62 0 0 0.004672 0 0 TNIP3 79931 broad.mit.edu 37 4 122068285 122068285 + Silent SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:122068285T>C ENST00000454328.1 - 9 881 c.654A>G c.(652-654)cgA>cgG p.R218R TNIP3_ENST00000509841.1_Silent_p.R295R|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Silent_p.R218R|TNIP3_ENST00000507879.1_Silent_p.R288R Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 218 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 TAAGTCTCTCTCGATCCGATC 0.373000 7 70 0 0 0.001984 0 0 GRID1 2894 broad.mit.edu 37 10 87487785 87487785 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:87487785C>G ENST00000327946.7 - 10 1445 c.1360G>C c.(1360-1362)Gag>Cag p.E454Q GRID1_ENST00000536331.1_Missense_Mutation_p.E25Q NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 454 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGGATGTTCTCAGCCACCATC 0.448000 Multiple Myeloma(13;0.14) 17 156 0 0 0.004990 0 0 VPS45 11311 broad.mit.edu 37 1 150040002 150040002 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:150040002G>C ENST00000369130.3 + 1 634 c.88G>C c.(88-90)Gag>Cag p.E30Q VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Missense_Mutation_p.E30Q NM_007259.3 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 30 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction p.E30Q(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CATGGATAAAGAGACGGTGAG 0.433000 4 49 0 0 0.000602 0 0 LCE2C 353140 broad.mit.edu 37 1 152648718 152648718 + Missense_Mutation SNP A A G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:152648718A>G ENST00000368783.1 + 2 282 c.227A>G c.(226-228)cAc>cGc p.H76R LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 76 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGCCACCACAGGCCCCGT 0.682000 4 143 0 0 0.009096 0 0 PUF60 22827 broad.mit.edu 37 8 144899260 144899260 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:144899260C>T ENST00000526683.1 - 11 1755 c.1200G>A c.(1198-1200)gtG>gtA p.V400V PUF60_ENST00000527197.1_Silent_p.V354V|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Silent_p.V371V|PUF60_ENST00000349157.6_Silent_p.V383V|PUF60_ENST00000453551.2_Silent_p.V357V|PUF60_ENST00000313352.7_Silent_p.V340V NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 400 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGATGGGGTTCACCACTCCCA 0.622000 3 25 0 0 0.009096 0 0 HS3ST6 64711 broad.mit.edu 37 16 1962054 1962054 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:1962054G>A ENST00000454677.2 - 2 682 c.617C>T c.(616-618)tCc>tTc p.S206F HS3ST6_ENST00000443547.1_Missense_Mutation_p.S158F|HS3ST6_ENST00000293937.3_Missense_Mutation_p.S189F C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 158 endometrium(2)|lung(2) 4 GGCGTAGTCGGAGATGGCCCG 0.716000 5 31 0 0 0.000602 0 0 TICRR 90381 broad.mit.edu 37 15 90167507 90167507 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr15:90167507G>C ENST00000268138.7 + 20 4071 c.3966G>C c.(3964-3966)aaG>aaC p.K1322N KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.K1321N TOPBP1-interacting checkpoint and replication regulator TCTCCAAGAAGAGTCCATTTA 0.463000 10 128 0 0 0.006214 0 0 RGS20 8601 broad.mit.edu 37 8 54866838 54866838 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:54866838G>A ENST00000297313.3 + 5 1038 c.946G>A c.(946-948)Gaa>Aaa p.E316K RGS20_ENST00000522225.1_Missense_Mutation_p.E50K|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.E201K|RGS20_ENST00000276500.4_Missense_Mutation_p.E169K NM_170587.2 NP_733466.1 O76081 RGS20_HUMAN regulator of G-protein signaling 20 316 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) GATAATCTATGAAGACTACAT 0.378000 6 47 0 0 0.001168 0 0 GRIP1 23426 broad.mit.edu 37 12 66786483 66786483 + Missense_Mutation SNP G G T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:66786483G>T ENST00000359742.4 - 18 2483 c.2243C>A c.(2242-2244)aCc>aAc p.T748N GRIP1_ENST00000286445.7_Missense_Mutation_p.T748N|GRIP1_ENST00000398016.3_Missense_Mutation_p.T696N Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 748 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AATTTTCAAGGTGACAGTCTC 0.428000 10 94 0.000442599 0.000469628 0.006214 1 0 PTPRB 5787 broad.mit.edu 37 12 70931979 70931979 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:70931979C>G ENST00000334414.6 - 28 5946 c.5902G>C c.(5902-5904)Gat>Cat p.D1968H PTPRB_ENST00000261266.5_Missense_Mutation_p.D1750H|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1660H|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1880H|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1660H|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1660H|RP11-588H23.3_ENST00000547656.1_RNA NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1750 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.D1750Y(2)|p.D1968Y(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGATCATCATCTACATTGGAG 0.478000 10 58 0 0 0.001368 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263342 140263342 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:140263342C>T ENST00000289272.2 + 1 1489 c.1489C>T c.(1489-1491)Cgg>Tgg p.R497W PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R497W|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGTGGAGCGGCGGGTGGG 0.662000 12 85 0 0 0.003954 0 0 CCDC146 57639 broad.mit.edu 37 7 76924175 76924175 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:76924175G>C ENST00000285871.4 + 19 2987 c.2860G>C c.(2860-2862)Gaa>Caa p.E954Q CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E668Q NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 954 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AAAGCCAGTTGAAATCTGAAT 0.413000 4 27 0 0 0.009096 0 0 MID2 11043 broad.mit.edu 37 X 107169397 107169397 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:107169397G>A ENST00000262843.6 + 9 2219 c.1671G>A c.(1669-1671)gaG>gaA p.E557E RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Silent_p.E527E NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 557 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 TGCAGATGGAGAAGGATGAAA 0.423000 19 51 0 0 0.008871 0 0 TLN1 7094 broad.mit.edu 37 9 35698089 35698089 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:35698089C>G ENST00000314888.9 - 56 7805 c.7452G>C c.(7450-7452)gaG>gaC p.E2484D TLN1_ENST00000540444.1_Missense_Mutation_p.E2372D NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 2484 I/LWEQ. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGTCTCATTCTCCTGCTCTT 0.562000 15 93 0 0 0.004990 0 0 MED13L 23389 broad.mit.edu 37 12 116429339 116429339 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:116429339G>C ENST00000281928.3 - 17 3626 c.3420C>G c.(3418-3420)atC>atG p.I1140M NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1140 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CCGCCCCTTTGATGTTCATGT 0.473000 16 70 0 0 0.006122 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999311 27999311 + Silent SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:27999311C>G ENST00000441525.1 - 1 255 c.141G>C c.(139-141)tcG>tcC p.S47S NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 47 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CATCTCCGGTCGATGGCTCTG 0.532000 9 28 0 0 0.006214 0 0 TNN 63923 broad.mit.edu 37 1 175097823 175097823 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:175097823G>A ENST00000239462.4 + 15 3384 c.3271G>A c.(3271-3273)Gat>Aat p.D1091N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1091 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTGCATGGCGATGCCAGCCG 0.602000 10 82 0 0 0.001368 0 0 FBN3 84467 broad.mit.edu 37 19 8137035 8137035 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:8137035G>A ENST00000600128.1 - 63 8399 c.7985C>T c.(7984-7986)cCg>cTg p.P2662L FBN3_ENST00000270509.2_Missense_Mutation_p.P2662L|FBN3_ENST00000601739.1_Missense_Mutation_p.P2662L Q75N90 FBN3_HUMAN fibrillin 3 2662 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CTCTTTGTCCGGGGTGTCCTG 0.662000 29 172 0 0 0.002836 0 0 FAT1 2195 broad.mit.edu 37 4 187629184 187629184 + Nonsense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:187629184G>A ENST00000441802.2 - 2 2007 c.1798C>T c.(1798-1800)Cag>Tag p.Q600* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 600 Cadherin 5. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGTACCAACTGAAGTTCATCT 0.408000 HNSCC(5;0.00058) 6 41 0 0 0.001168 0 0 FAM13A 10144 broad.mit.edu 37 4 89652580 89652580 + Splice_Site SNP C C G rs147595342 by1000genomes TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:89652580C>G ENST00000264344.5 - 23 3051 c.e23-1 FAM13A_ENST00000395002.2_Splice_Site|FAM13A_ENST00000513837.1_Splice_Site|FAM13A_ENST00000511976.1_Splice_Site|FAM13A_ENST00000508369.1_Splice_Site|FAM13A_ENST00000503556.1_Splice_Site NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GAGTTCAGGTCTAAGAGAGAG 0.398000 4 31 0 0 0.009096 0 0 C17orf77 146723 broad.mit.edu 37 17 72588192 72588192 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:72588192G>A ENST00000392620.1 + 3 369 c.7G>A c.(7-9)Gaa>Aaa p.E3K C17orf77_ENST00000328023.2_Missense_Mutation_p.E3K|CD300LD_ENST00000375352.1_Intron NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 3 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 ATGGATGGATGAATTGGCGCT 0.443000 19 139 0 0 0.002299 0 0 CCDC88A 55704 broad.mit.edu 37 2 55546086 55546086 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:55546086C>G ENST00000436346.1 - 19 4058 c.3217G>C c.(3217-3219)Gag>Cag p.E1073Q CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1072Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1072Q|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1073Q|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1073 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 TTCTGTGTCTCAAGTTGCTTC 0.383000 4 53 0 0 0.000602 0 0 PIWIL2 55124 broad.mit.edu 37 8 22167484 22167484 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:22167484G>A ENST00000356766.6 + 15 1845 c.1697G>A c.(1696-1698)cGt>cAt p.R566H PIWIL2_ENST00000521356.1_Missense_Mutation_p.R566H|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R566H NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 566 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) ATTGAAGGACGTGTTCTGCCA 0.383000 6 49 0 0 0.001984 0 0 RYR3 6263 broad.mit.edu 37 15 34131070 34131070 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr15:34131070G>A ENST00000389232.4 + 89 12959 c.12889G>A c.(12889-12891)Gaa>Aaa p.E4297K RYR3_ENST00000415757.3_Missense_Mutation_p.E4292K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4297 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCATGGGCCTGAAGTGGGTTT 0.458000 7 34 0 0 0.003080 0 0 TK2 7084 broad.mit.edu 37 16 66562953 66562953 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:66562953C>T ENST00000299697.7 - 6 743 c.519G>A c.(517-519)ttG>ttA p.L173L TK2_ENST00000417693.3_Silent_p.L113L|TK2_ENST00000544898.1_Silent_p.L82L|TK2_ENST00000451102.2_Silent_p.L131L|TK2_ENST00000564917.1_Silent_p.L131L|TK2_ENST00000545043.2_Silent_p.L106L|TK2_ENST00000527800.1_Silent_p.L34L|TK2_ENST00000525974.1_Silent_p.L34L|TK2_ENST00000563369.2_Silent_p.L34L|TK2_ENST00000527284.1_Silent_p.L100L NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4 NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial 131 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity large_intestine(1)|lung(2)|urinary_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) ACCTCTCCATCAACCGTACAG 0.393000 16 76 0 0 0.004007 0 0 GNAS 2778 broad.mit.edu 37 20 57429096 57429096 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:57429096C>T ENST00000371100.4 + 1 1328 c.776C>T c.(775-777)gCg>gTg p.A259V GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A259V|GNAS_ENST00000371102.4_Missense_Mutation_p.A259V|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R196W|GNAS_ENST00000371075.3_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 E -> V (in AHO). activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCGGCAGTCGCGGCCTCGAGT 0.667000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 6 28 0 0 0.001168 0 0 BTBD16 118663 broad.mit.edu 37 10 124097537 124097537 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:124097537G>C ENST00000368994.2 + 16 1712 c.1461G>C c.(1459-1461)ttG>ttC p.L487F BTBD16_ENST00000260723.4_Missense_Mutation_p.L486F Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 486 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTTAGACCTTGAAAATCCAAA 0.403000 6 38 0 0 0.001168 0 0 PRG4 10216 broad.mit.edu 37 1 186277112 186277112 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:186277112C>G ENST00000445192.2 + 7 2306 c.2261C>G c.(2260-2262)cCt>cGt p.P754R PRG4_ENST00000367485.4_Missense_Mutation_p.P661R|PRG4_ENST00000367486.3_Missense_Mutation_p.P711R|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P713R NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 754 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCAACTACCCCTAAGGGGACT 0.602000 40 172 0 0 0.007835 0 0 KLHL20 27252 broad.mit.edu 37 1 173744918 173744918 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:173744918G>C ENST00000209884.4 + 10 1711 c.1575G>C c.(1573-1575)gaG>gaC p.E525D KLHL20_ENST00000546011.1_Missense_Mutation_p.E336D NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 525 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 GCAGTGCTGAGAGATACAACC 0.507000 5 75 0 0 0.000602 0 0 PYGM 5837 broad.mit.edu 37 11 64521767 64521767 + Silent SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:64521767C>G ENST00000164139.3 - 9 1448 c.1050G>C c.(1048-1050)ctG>ctC p.L350L PYGM_ENST00000377432.3_Silent_p.L262L NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 350 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GGATCCTCATCAGCTCGGGGA 0.632000 5 66 0 0 0.000602 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 165 0 0 0.004672 0 0 DNAJC11 55735 broad.mit.edu 37 1 6738499 6738499 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:6738499G>A ENST00000377577.5 - 3 354 c.231C>T c.(229-231)atC>atT p.I77I DNAJC11_ENST00000349363.6_Silent_p.I39I|DNAJC11_ENST00000294401.7_Silent_p.I77I|DNAJC11_ENST00000542246.1_Silent_p.I39I|DNAJC11_ENST00000377573.5_Intron NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 77 J. protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) ATATATCATAGATGGCCCTGG 0.388000 11 48 0 0 0.008291 0 0 PLCH1 23007 broad.mit.edu 37 3 155200325 155200325 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:155200325G>A ENST00000460012.1 - 23 3757 c.3400C>T c.(3400-3402)Ctg>Ttg p.L1134L PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.L1172L|PLCH1_ENST00000334686.6_Silent_p.L1134L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.L1134L Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1172 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTCTCCTGCAGAATTGCAGTT 0.458000 8 42 0 0 0.008291 0 0 F2RL3 9002 broad.mit.edu 37 19 17000712 17000712 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:17000712G>C ENST00000248076.3 + 2 768 c.438G>C c.(436-438)gaG>gaC p.E146D F2RL3_ENST00000599210.1_3'UTR NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 146 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCTTCGGGGAGGCCGCCTGCC 0.706000 3 11 0 0 0.004672 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:21971028C>T ENST00000304494.5 - 2 600 c.330G>A c.(328-330)tgG>tgA p.W110* CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 23 0 0 0.006214 0 0 DGKQ 1609 broad.mit.edu 37 4 957073 957073 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:957073C>T ENST00000273814.3 - 16 1813 c.1740G>A c.(1738-1740)gcG>gcA p.A580A DGKQ_ENST00000502309.1_5'UTR NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 580 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGGGCAGCTTCGCGTGCTGAC 0.652000 10 38 0 0 0.008291 0 0 PRG4 10216 broad.mit.edu 37 1 186276565 186276565 + Missense_Mutation SNP A A G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:186276565A>G ENST00000445192.2 + 7 1759 c.1714A>G c.(1714-1716)Acc>Gcc p.T572A PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 572 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T572A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGCACCCACCACCCCCAAGAA 0.642000 5 97 0 0 0.001168 0 0 COG1 9382 broad.mit.edu 37 17 71189326 71189326 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:71189326G>C ENST00000299886.4 + 1 198 c.118G>C c.(118-120)Gag>Cag p.E40Q RP11-143K11.5_ENST00000580671.1_RNA NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 40 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) GGTTCGGGCCGAGATCGAGCA 0.687000 5 17 0 0 0.000602 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186793540 186793540 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:186793540C>T ENST00000169298.3 + 8 1844 c.1170C>T c.(1168-1170)atC>atT p.I390I ST6GAL1_ENST00000457772.2_Silent_p.I159I|ST6GAL1_ENST00000448044.1_Silent_p.I390I NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 390 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) ATGAGGACATCTACCTGCTTG 0.507000 5 81 0 0 0.001984 0 0 FAM35A 54537 broad.mit.edu 37 10 88946848 88946848 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:88946848G>A ENST00000298786.4 + 9 2520 c.2406G>A c.(2404-2406)gcG>gcA p.A802A FAM35A_ENST00000298784.1_Silent_p.A733A Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 733 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 GTAGGCCAGCGTTAATGACTG 0.353000 4 44 0 0 0.000602 0 0 ATR 545 broad.mit.edu 37 3 142285073 142285073 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:142285073G>C ENST00000350721.4 - 3 303 c.182C>G c.(181-183)tCt>tGt p.S61C ATR_ENST00000383101.3_Missense_Mutation_p.S61C NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 61 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GGTTGGCTGAGAGTCAGTTTT 0.378000 Other conserved DNA damage response genes 4 36 0 0 0.009096 0 0 PRKDC 5591 broad.mit.edu 37 8 48842538 48842538 + Nonsense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:48842538C>A ENST00000314191.2 - 18 1983 c.1927G>T c.(1927-1929)Gaa>Taa p.E643* PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E643* NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 643 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ACCCATGGTTCAAAAAATTCT 0.318000 Non-homologous end-joining 5 80 5.9392e-07 6.35038e-07 0.001168 1 0 STK32A 202374 broad.mit.edu 37 5 146750271 146750271 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:146750271G>C ENST00000397936.3 + 9 1048 c.715G>C c.(715-717)Gag>Cag p.E239Q STK32A_ENST00000398523.3_Missense_Mutation_p.E239Q NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A 239 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACACGTTTGAGACGACTGT 0.398000 9 131 0 0 0.006214 0 0 THAP9 79725 broad.mit.edu 37 4 83838784 83838784 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:83838784G>C ENST00000302236.5 + 5 1470 c.1419G>C c.(1417-1419)ctG>ctC p.L473L LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 473 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) ATCATGTACTGAAAGTGAATA 0.388000 21 104 0 0 0.008871 0 0 CST9 128822 broad.mit.edu 37 20 23586433 23586433 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:23586433G>C ENST00000376971.3 - 1 80 c.69C>G c.(67-69)ctC>ctG p.L23L NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 23 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) AAGTCACCAGGAGCTGGAAGC 0.532000 14 104 0 0 0.001855 0 0 ZFHX3 463 broad.mit.edu 37 16 72984803 72984803 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:72984803C>T ENST00000268489.5 - 3 3453 c.2781G>A c.(2779-2781)ctG>ctA p.L927L ZFHX3_ENST00000397992.5_Silent_p.L13L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 927 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CCAGGTTCATCAGCTCCTCTG 0.617000 10 58 0 0 0.006214 0 0 COL16A1 1307 broad.mit.edu 37 1 32165443 32165443 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:32165443C>T ENST00000373672.3 - 4 753 c.237G>A c.(235-237)ctG>ctA p.L79L COL16A1_ENST00000373668.3_Silent_p.L79L|COL16A1_ENST00000271069.6_Silent_p.L79L NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 79 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGGCCGCCCCCAGGCGCAGGA 0.592000 14 83 0 0 0.002450 0 0 MALT1 10892 broad.mit.edu 37 18 56402442 56402442 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr18:56402442G>C ENST00000348428.3 + 13 1742 c.1484G>C c.(1483-1485)gGa>gCa p.G495A RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G484A NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 495 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 aggtGTCAAGGAGCAGAAGCT 0.323000 T BIRC3 MALT 4 22 0 0 0.009096 0 0 PRG4 10216 broad.mit.edu 37 1 186276564 186276564 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:186276564C>T ENST00000445192.2 + 7 1758 c.1713C>T c.(1711-1713)acC>acT p.T571T PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T530T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 571 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T571T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGCACCCACCACCCCCAAGA 0.642000 4 106 0 0 0.000602 0 0 KIAA1958 158405 broad.mit.edu 37 9 115422154 115422154 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:115422154C>T ENST00000337530.6 + 4 2252 c.1956C>T c.(1954-1956)ttC>ttT p.F652F KIAA1958_ENST00000536272.1_Silent_p.F680F NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 652 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 AGTCCCCCTTCTACCTGACTG 0.577000 6 35 0 0 0.001168 0 0 ZGLP1 100125288 broad.mit.edu 37 19 10415872 10415872 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:10415872G>A ENST00000403903.3 - 4 1909 c.711C>T c.(709-711)taC>taT p.Y237Y ZGLP1_ENST00000403352.1_Silent_p.Y153Y NM_001103167.1 NP_001096637.1 P0C6A0 ZGLP1_HUMAN zinc finger, GATA-like protein 1 237 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1) 6 AGCGAGTGCCGTATTTCTTGT 0.562000 8 46 0 0 0.004482 0 0 RELL2 285613 broad.mit.edu 37 5 141019745 141019745 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:141019745G>A ENST00000297164.3 + 5 1962 c.762G>A c.(760-762)ggG>ggA p.G254G RELL2_ENST00000444782.1_Silent_p.G254G|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000518856.1_Silent_p.G188G|RELL2_ENST00000521367.1_Silent_p.G188G|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000435817.2_3'UTR NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 254 integral to membrane|plasma membrane large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTTGAAGGGAACCCCAGAG 0.647000 4 58 0 0 0.009096 0 0 EPHA4 2043 broad.mit.edu 37 2 222298867 222298867 + Nonsense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:222298867G>A ENST00000281821.2 - 14 2532 c.2491C>T c.(2491-2493)Caa>Taa p.Q831* EPHA4_ENST00000409938.1_Nonsense_Mutation_p.Q831*|EPHA4_ENST00000392071.4_Nonsense_Mutation_p.Q780*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.Q831* NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 831 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CTTACATCTTGATTGGACATA 0.408000 9 70 0 0 0.004482 0 0 FAM3A 60343 broad.mit.edu 37 X 153735753 153735753 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:153735753C>T ENST00000434658.2 - 6 872 c.403G>A c.(403-405)Gac>Aac p.D135N FAM3A_ENST00000369641.3_Missense_Mutation_p.D159N|FAM3A_ENST00000447601.2_Missense_Mutation_p.D152N|FAM3A_ENST00000359889.5_Missense_Mutation_p.D152N|FAM3A_ENST00000393572.1_Missense_Mutation_p.D114N|FAM3A_ENST00000369643.1_Missense_Mutation_p.D152N NM_001171134.1 NP_001164605.1 P98173 FAM3A_HUMAN family with sequence similarity 3, member A 152 extracellular region kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGGGTCGTCGTAGGATGCC 0.602000 8 16 0 0 0.003080 0 0 RUFY3 22902 broad.mit.edu 37 4 71628306 71628306 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:71628306G>C ENST00000226328.4 + 2 812 c.249G>C c.(247-249)ttG>ttC p.L83F RUFY3_ENST00000536664.1_Missense_Mutation_p.L67F|RUFY3_ENST00000381006.3_Missense_Mutation_p.L83F|RUFY3_ENST00000417478.2_Missense_Mutation_p.L143F|RUFY3_ENST00000502653.1_Missense_Mutation_p.L30F NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 83 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) TCAAGGGCTTGATTGAATCAG 0.473000 29 200 0 0 0.005443 0 0 PNKD 25953 broad.mit.edu 37 2 219204763 219204763 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:219204763C>A ENST00000273077.4 + 4 415 c.364C>A c.(364-366)Ctt>Att p.L122I PNKD_ENST00000258362.3_Missense_Mutation_p.L98I|PNKD_ENST00000436005.2_Missense_Mutation_p.L62I|AC021016.8_ENST00000411433.1_RNA NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 122 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTGAAGGTGCTTCCCATCCC 0.652000 13 63 0.000151284 0.000161138 0.001855 1 0 NLRP7 199713 broad.mit.edu 37 19 55450689 55450689 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:55450689C>T ENST00000446217.1 - 6 1984 c.1582G>A c.(1582-1584)Gta>Ata p.V528I NLRP7_ENST00000592784.1_Missense_Mutation_p.V500I|NLRP7_ENST00000590030.1_Missense_Mutation_p.V500I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V500I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V500I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V500I|NLRP7_ENST00000448121.2_Missense_Mutation_p.V500I Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 500 ATP binding p.V500I(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGCTTCTGTACGTCCCCGATG 0.567000 11 72 0 0 0.010729 0 0 DST 667 broad.mit.edu 37 6 56374648 56374648 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:56374648G>A ENST00000370754.5 - 74 18710 c.18711C>T c.(18709-18711)atC>atT p.I6237I DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000370788.2_Silent_p.I3862I|DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.I3645I Q03001 DYST_HUMAN dystonin 6057 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGCTCTCAAGGATCTGATCTA 0.398000 5 45 0 0 0.000602 0 0 ASB2 51676 broad.mit.edu 37 14 94417555 94417555 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:94417555G>C ENST00000555019.1 - 6 1100 c.670C>G c.(670-672)Ctg>Gtg p.L224V ASB2_ENST00000315988.4_Missense_Mutation_p.L176V|ASB2_ENST00000556337.1_Intron NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 176 Missing (in Ref. 7; AAD45345). intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) TGCTGCACCAGAATCTTCACG 0.622000 5 57 0 0 0.003080 0 0 RIC8B 55188 broad.mit.edu 37 12 107245315 107245315 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:107245315G>A ENST00000392837.4 + 7 1400 c.1249G>A c.(1249-1251)Gac>Aac p.D417N RIC8B_ENST00000392839.2_Missense_Mutation_p.D417N|RIC8B_ENST00000355478.2_Missense_Mutation_p.D377N|RIC8B_ENST00000549643.1_Intron Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 417 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 GACACATGTTGACCTTGGAGT 0.448000 6 68 0 0 0.001168 0 0 ZNF423 23090 broad.mit.edu 37 16 49672763 49672763 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:49672763G>A ENST00000561648.1 - 4 353 c.300C>T c.(298-300)ctC>ctT p.L100L ZNF423_ENST00000562520.1_Silent_p.L40L|ZNF423_ENST00000563137.2_Silent_p.L40L|ZNF423_ENST00000535559.1_5'UTR|ZNF423_ENST00000262383.2_Silent_p.L100L|ZNF423_ENST00000562871.1_Silent_p.L40L|ZNF423_ENST00000567169.1_5'UTR NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 100 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CCACCCAGGAGAGTTGTGGGT 0.587000 6 45 0 0 0.003080 0 0 TTC33 23548 broad.mit.edu 37 5 40747077 40747077 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:40747077G>C ENST00000337702.4 - 2 196 c.44C>G c.(43-45)tCa>tGa p.S15* TTC33_ENST00000503936.2_5'UTR NM_012382.2 NP_036514.1 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 15 binding NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1) 11 AGTGACCTTTGAGACCTTCTC 0.388000 6 46 0 0 0.001984 0 0 C3 718 broad.mit.edu 37 19 6697749 6697749 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:6697749G>A ENST00000245907.6 - 20 2589 c.2497C>T c.(2497-2499)Ctg>Ttg p.L833L NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 833 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGTAGCCGCAGGTCGATGAAG 0.567000 3 33 0 0 0.004672 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552205 102552205 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:102552205G>A ENST00000334701.7 - 4 1066 c.785C>T c.(784-786)tCt>tTt p.S262F HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S140F|HSP90AA1_ENST00000441629.2_Intron NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 140 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) CAAATAAGCAGAATAAAAACC 0.473000 16 52 0 0 0.003163 0 0 GUF1 60558 broad.mit.edu 37 4 44700691 44700691 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:44700691C>G ENST00000281543.5 + 17 2197 c.2003C>G c.(2002-2004)tCt>tGt p.S668C GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 668 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 ACACAATCTTCTAAATAATTG 0.308000 9 26 0 0 0.006214 0 0 CCDC144A 9720 broad.mit.edu 37 17 16594003 16594003 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:16594003G>C ENST00000443444.2 + 1 429 c.289G>C c.(289-291)Gag>Cag p.E97Q CCDC144A_ENST00000456009.1_Missense_Mutation_p.E97Q|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E97Q|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E97Q|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E97Q|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E97Q|CCDC144A_ENST00000436374.1_3'UTR A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 97 CCCTGGGGTGGAGCACATCTT 0.647000 69 197 0 0 0.003610 0 0 TRIM68 55128 broad.mit.edu 37 11 4622349 4622349 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:4622349G>C ENST00000300747.5 - 6 1104 c.815C>G c.(814-816)tCt>tGt p.S272C NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 272 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding p.S272F(1) breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CAAGCTCCAAGATTTGCTCCT 0.547000 12 95 0 0 0.001368 0 0 SLC2A7 155184 broad.mit.edu 37 1 9067373 9067373 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:9067373C>T ENST00000400906.1 - 10 1187 c.1188G>A c.(1186-1188)ggG>ggA p.G396G NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 396 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) ACTCACTGGGCCCAATGGAAT 0.602000 4 53 0 0 0.000602 0 0 DPP3 10072 broad.mit.edu 37 11 66272236 66272236 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:66272236C>T ENST00000532677.1 + 17 2490 c.2089C>T c.(2089-2091)Cgc>Tgc p.R697C DPP3_ENST00000360510.2_Missense_Mutation_p.R678C|DPP3_ENST00000453114.1_Missense_Mutation_p.R678C|DPP3_ENST00000541961.1_Missense_Mutation_p.R678C|DPP3_ENST00000531863.1_Missense_Mutation_p.R698C|DPP3_ENST00000530165.1_Missense_Mutation_p.R648C NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 678 I -> Y (in Ref. 4; BAA75785). proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GCCCAACACTCGCCTTGAAGG 0.567000 19 101 0 0 0.010504 0 0 FAM179B 23116 broad.mit.edu 37 14 45432505 45432505 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:45432505C>G ENST00000361462.2 + 1 1064 c.881C>G c.(880-882)tCt>tGt p.S294C FAM179B_ENST00000361577.3_Missense_Mutation_p.S294C|FAM179B_ENST00000382233.2_Missense_Mutation_p.S294C Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 294 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AGGTTTCAATCTTACATTTCT 0.498000 20 89 0 0 0.008871 0 0 DDX11L1 100287102 broad.mit.edu 37 1 13501 13501 + RNA SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:13501G>A ENST00000456328.2 + 0 749 NR_046018.2|NR_051986.1 ACCACTGCCTGGCGCTGTGCC 0.582000 5 86 0 0 0.000602 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147869376 147869376 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:147869376C>T ENST00000361727.3 + 18 3332 c.2816C>T c.(2815-2817)tCc>tTc p.S939F CNTNAP2_ENST00000538075.1_5'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 939 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGCATCCGCTCCTTGAGGATG 0.542000 HNSCC(39;0.1) 10 65 0 0 0.006214 0 0 TACSTD2 4070 broad.mit.edu 37 1 59042150 59042150 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:59042150C>T ENST00000371225.2 - 1 1016 c.679G>A c.(679-681)Gag>Aag p.E227K NM_002353.2 NP_002344.2 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 227 cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) ATGTCCCTCTCGAAGTAGTAG 0.632000 4 20 0 0 0.009096 0 0 UNC80 285175 broad.mit.edu 37 2 210658580 210658580 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:210658580C>T ENST00000439458.1 + 7 1015 c.935C>T c.(934-936)tCc>tTc p.S312F UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.S312F NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 312 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 CCATCACATTCCAGGTACCTG 0.443000 6 47 0 0 0.001168 0 0 ASXL3 80816 broad.mit.edu 37 18 31318686 31318686 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr18:31318686G>A ENST00000269197.5 + 11 1318 c.1318G>A c.(1318-1320)Gag>Aag p.E440K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATTGGAGTCAGAGGATATCTT 0.413000 13 49 0 0 0.003163 0 0 AOX1 316 broad.mit.edu 37 2 201534448 201534448 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:201534448G>A ENST00000374700.2 + 34 4190 c.3949G>A c.(3949-3951)Gac>Aac p.D1317N AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1317 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GGCCTGTGAAGACAAGTTCAC 0.448000 17 114 0 0 0.006122 0 0 C7orf63 79846 broad.mit.edu 37 7 89939442 89939442 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:89939442C>T ENST00000389297.4 + 23 2967 c.2716C>T c.(2716-2718)Ctg>Ttg p.L906L C7orf63_ENST00000497910.1_Silent_p.L888L|C7orf63_ENST00000316089.8_Silent_p.L860L NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 906 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AGGAGGACCTCTGGTTGATAC 0.433000 6 74 0 0 0.001168 0 0 BTF3 689 broad.mit.edu 37 5 72798854 72798854 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:72798854G>C ENST00000380591.3 + 4 648 c.429G>C c.(427-429)ctG>ctC p.L143L BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Silent_p.L99L NM_001037637.1 NP_001032726.1 P20290 BTF3_HUMAN basic transcription factor 3 143 NAC-A/B. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding endometrium(1)|large_intestine(2)|lung(2) 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) CAAAGCAGCTGACAGAAATGC 0.473000 15 86 0 0 0.002450 0 0 ATR 545 broad.mit.edu 37 3 142241603 142241603 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:142241603G>A ENST00000350721.4 - 23 4354 c.4233C>T c.(4231-4233)agC>agT p.S1411S ATR_ENST00000383101.3_Silent_p.S1347S NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1411 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTTGAGCTCGGCTATTATCAG 0.358000 Other conserved DNA damage response genes 42 121 0 0 0.007835 0 0 PSORS1C2 170680 broad.mit.edu 37 6 31106763 31106763 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:31106763C>A ENST00000259845.4 - 1 364 c.41G>T c.(40-42)tGc>tTc p.C14F PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_Intron NM_014069.2 NP_054788.2 Q9UIG4 PS1C2_HUMAN psoriasis susceptibility 1 candidate 2 14 extracellular region NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GGTGTGCAGGCAAAGGACCAG 0.597000 10 51 0.00829132 0.00866536 0.008291 1 0 DOPEY1 23033 broad.mit.edu 37 6 83810518 83810518 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:83810518G>C ENST00000349129.2 + 4 493 c.233G>C c.(232-234)gGa>gCa p.G78A DOPEY1_ENST00000237163.5_Missense_Mutation_p.G78A|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G78A|DOPEY1_ENST00000536812.1_Missense_Mutation_p.G78A NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 78 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTACCAGGTGGAGTTCATCGG 0.363000 26 181 0 0 0.006320 0 0 HSD17B4 3295 broad.mit.edu 37 5 118832266 118832266 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:118832266G>C ENST00000504811.1 + 13 1156 c.972G>C c.(970-972)ctG>ctC p.L324L HSD17B4_ENST00000509514.1_Silent_p.L37L|HSD17B4_ENST00000414835.2_Silent_p.L159L|HSD17B4_ENST00000513628.1_Silent_p.L162L|HSD17B4_ENST00000515320.1_Silent_p.L281L|HSD17B4_ENST00000256216.6_Silent_p.L299L|HSD17B4_ENST00000510025.1_Silent_p.L275L NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 299 Enoyl-CoA hydratase 2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) TTGAAGTTCTGAGTAAAATAG 0.333000 8 115 0 0 0.004482 0 0 ANO5 203859 broad.mit.edu 37 11 22301307 22301307 + Missense_Mutation SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:22301307T>C ENST00000324559.8 + 22 3055 c.2738T>C c.(2737-2739)cTc>cCc p.L913P NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 913 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AAATCAACACTCTAATCAGTA 0.408000 5 22 0 0 0.000602 0 0 AKAP11 11215 broad.mit.edu 37 13 42873613 42873613 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr13:42873613C>T ENST00000025301.2 + 8 906 c.731C>T c.(730-732)tCa>tTa p.S244L NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 244 Ser-rich. intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CAGCAGAAGTCATTGGCTAAA 0.443000 15 56 0 0 0.002450 0 0 FLG 2312 broad.mit.edu 37 1 152284258 152284258 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:152284258G>C ENST00000368799.1 - 3 3139 c.3104C>G c.(3103-3105)tCc>tGc p.S1035C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1035 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) CTGGTGGCGGGATCCGTGTCT 0.567000 Ichthyosis 41 651 0 0 0.007835 0 0 AFF2 2334 broad.mit.edu 37 X 148059934 148059934 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:148059934G>A ENST00000370460.2 + 18 3998 c.3519G>A c.(3517-3519)ctG>ctA p.L1173L AFF2_ENST00000286437.5_Silent_p.L814L|AFF2_ENST00000370457.5_Silent_p.L1138L|AFF2_ENST00000342251.3_Silent_p.L1140L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1173 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TGTTTAAGCTGAAGAAGGACC 0.348000 10 43 0 0 0.006214 0 0 CDH24 64403 broad.mit.edu 37 14 23523465 23523465 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:23523465G>A ENST00000397359.3 - 6 1116 c.857C>T c.(856-858)cCa>cTa p.P286L CDH24_ENST00000487137.2_Missense_Mutation_p.P286L|CDH24_ENST00000267383.5_Missense_Mutation_p.P286L|CDH24_ENST00000554034.1_Missense_Mutation_p.P286L NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 286 Cadherin 3. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCCCAGGTCTGGGTCCTGGGC 0.637000 35 164 0 0 0.003271 0 0 COL17A1 1308 broad.mit.edu 37 10 105814753 105814753 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:105814753C>G ENST00000353479.5 - 20 2020 c.1730G>C c.(1729-1731)aGt>aCt p.S577T COL17A1_ENST00000369733.3_Missense_Mutation_p.S577T NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 577 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGGGCCTGGACTTCCCATGTC 0.383000 3 26 0 0 0.004672 0 0 PMCH 5367 broad.mit.edu 37 12 102591364 102591364 + Missense_Mutation SNP G G T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:102591364G>T ENST00000329406.4 - 1 259 c.185C>A c.(184-186)tCc>tAc p.S62Y NM_002674.2 NP_002665.2 P20382 MCH_HUMAN pro-melanin-concentrating hormone 62 cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission melanin-concentrating hormone activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 6 TTGTTCCAGGGAAGGAGCAAT 0.353000 10 39 0.00621372 0.00651854 0.006214 1 0 SON 6651 broad.mit.edu 37 21 34923116 34923116 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr21:34923116C>T ENST00000356577.4 + 3 2054 c.1579C>T c.(1579-1581)Cat>Tat p.H527Y SON_ENST00000300278.4_Missense_Mutation_p.H527Y|SON_ENST00000290239.6_Missense_Mutation_p.H527Y|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.H527Y NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 527 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 ACATCCTGGGCATCCTGAGGT 0.592000 21 125 0 0 0.008871 0 0 HAUS3 79441 broad.mit.edu 37 4 2242704 2242704 + Translation_Start_Site SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:2242704G>C ENST00000243706.4 - 0 199 HAUS3_ENST00000506763.1_De_novo_Start_InFrame|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_De_novo_Start_InFrame|POLN_ENST00000511885.2_Intron NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TGTTGTATCTGATATGGGTTT 0.308000 14 46 0 0 0.002450 0 0 KIAA1324 57535 broad.mit.edu 37 1 109714534 109714534 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:109714534G>A ENST00000369939.3 + 4 697 c.514G>A c.(514-516)Gaa>Aaa p.E172K KIAA1324_ENST00000529753.1_Missense_Mutation_p.E172K NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 172 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.E172K(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CAACACGGACGAATGCACAGC 0.532000 17 71 0 0 0.004990 0 0 RNF219 79596 broad.mit.edu 37 13 79209281 79209281 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr13:79209281C>T ENST00000282003.6 - 5 660 c.602G>A c.(601-603)cGa>cAa p.R201Q NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 201 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) AGCCTTCAGTCGTAAATTCTC 0.343000 7 50 0 0 0.004482 0 0 REV3L 5980 broad.mit.edu 37 6 111696128 111696128 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:111696128C>T ENST00000435970.1 - 15 4012 c.3196G>A c.(3196-3198)Gaa>Aaa p.E1066K REV3L_ENST00000368805.1_Missense_Mutation_p.E1144K|REV3L_ENST00000358835.3_Missense_Mutation_p.E1144K|REV3L_ENST00000368802.3_Missense_Mutation_p.E1144K O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1144 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GCCTCTTTTTCTGCAGCAGCC 0.418000 DNA polymerases (catalytic subunits) 15 117 0 0 0.003163 0 0 OR8B4 283162 broad.mit.edu 37 11 124294739 124294739 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:124294739G>A ENST00000356130.3 - 1 50 c.29C>T c.(28-30)aCt>aTt p.T10I NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GATAAACTCAGTCACTGAGGA 0.488000 6 45 0 0 0.001168 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921788 5921788 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:5921788G>C ENST00000399933.3 - 8 4207 c.4208C>G c.(4207-4209)tCt>tGt p.S1403C KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1373C NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1403 Ser-rich. p.S1403Y(1)|p.S578Y(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TAGAGTACTAGAACAAATAGA 0.393000 15 92 0 0 0.004007 0 0 WIPF1 7456 broad.mit.edu 37 2 175432655 175432655 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:175432655C>G ENST00000392547.2 - 6 1375 c.1276G>C c.(1276-1278)Ggg>Cgg p.G426R AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000409891.1_Missense_Mutation_p.G426R|WIPF1_ENST00000392546.2_Missense_Mutation_p.G426R|WIPF1_ENST00000272746.5_Missense_Mutation_p.G426R|WIPF1_ENST00000359761.3_Missense_Mutation_p.G426R|AC018890.6_ENST00000442996.1_RNA NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 426 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GGAGGTGCCCCAGCACTGGGC 0.602000 10 64 0 0 0.008291 0 0 ESYT3 83850 broad.mit.edu 37 3 138187688 138187688 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:138187688G>A ENST00000389567.4 + 14 1585 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 467 C2 2. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CCTGAATGGTGAATATCGAGC 0.463000 44 363 0 0 0.013114 0 0 LAMA2 3908 broad.mit.edu 37 6 129714246 129714246 + Missense_Mutation SNP A A G rs141950826 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:129714246A>G ENST00000421865.2 + 37 5340 c.5291A>G c.(5290-5292)gAa>gGa p.E1764G NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1764 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.E1764G(2) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCCCGGGGGGAAAATGAAGAA 0.453000 3 73 0 0 0.004672 0 0 SF3B2 10992 broad.mit.edu 37 11 65829169 65829169 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:65829169G>A ENST00000528302.1 + 14 1795 c.1741G>A c.(1741-1743)Gag>Aag p.E581K SF3B2_ENST00000322535.6_Missense_Mutation_p.E598K Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 598 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 GAAGGAGTTCGAGACACGACT 0.498000 8 35 0 0 0.004482 0 0 HBP1 26959 broad.mit.edu 37 7 106826264 106826264 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:106826264C>T ENST00000222574.4 + 4 603 c.417C>T c.(415-417)atC>atT p.I139I HBP1_ENST00000468410.1_Silent_p.I139I|HBP1_ENST00000485846.1_Silent_p.I139I NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 139 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CTGTACACATCATAGCCACTA 0.403000 18 133 0 0 0.007413 0 0 CTSF 8722 broad.mit.edu 37 11 66335085 66335085 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:66335085G>A ENST00000310325.5 - 3 470 c.361C>T c.(361-363)Cgg>Tgg p.R121W CTSF_ENST00000533168.1_5'UTR NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 121 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CAGTCCTTCCGCAGCAGCACG 0.592000 12 135 0 0 0.010729 0 0 SYNE1 23345 broad.mit.edu 37 6 152557387 152557387 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:152557387C>G ENST00000367255.5 - 110 20852 c.20251G>C c.(20251-20253)Gat>Cat p.D6751H SYNE1_ENST00000341594.5_Missense_Mutation_p.D6363H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6680H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6751H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6680H|SYNE1_ENST00000356820.4_Missense_Mutation_p.D1275H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6751 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCCCATCATCTAATACTTGA 0.328000 HNSCC(10;0.0054) 5 50 0 0 0.000602 0 0 MDC1 9656 broad.mit.edu 37 6 30671732 30671732 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:30671732G>C ENST00000376406.3 - 10 5875 c.5228C>G c.(5227-5229)tCt>tGt p.S1743C MDC1_ENST00000376405.2_Missense_Mutation_p.S1479C|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1743 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CAAGGGTGCAGAGCAAGGCTT 0.562000 Other conserved DNA damage response genes 19 66 0 0 0.006122 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869389 36869389 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:36869389C>G ENST00000279024.4 - 3 1415 c.1144G>C c.(1144-1146)Gac>Cac p.D382H NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 382 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GAGGCACAGTCCAGTGCGTCC 0.547000 30 172 0 0 0.009535 0 0 HGS 9146 broad.mit.edu 37 17 79663007 79663007 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:79663007C>T ENST00000329138.4 + 15 1506 c.1371C>T c.(1369-1371)ctC>ctT p.L457L NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 457 Interaction with SNAP25 and TRAK2 (By similarity).|Interaction with SNX1 (By similarity).|Interaction with STAM1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TGGAGCTGCTCAACCAGCTGG 0.672000 4 49 0 0 0.009096 0 0 HECW1 23072 broad.mit.edu 37 7 43531746 43531746 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:43531746C>G ENST00000395891.1 + 18 3912 c.3307C>G c.(3307-3309)Cga>Gga p.R1103G HECW1_ENST00000453890.1_Missense_Mutation_p.R1069G NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1103 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 AGCTGCTATTCGAAGCCAACA 0.423000 9 73 0 0 0.004482 0 0 LRP2 4036 broad.mit.edu 37 2 170101261 170101261 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:170101261C>T ENST00000263816.3 - 22 3657 c.3372G>A c.(3370-3372)aaG>aaA p.K1124K LRP2_ENST00000443831.1_Silent_p.K987K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1124 LDL-receptor class A 10. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGACCCAGTTCTTTGAGATAC 0.493000 20 114 0 0 0.007413 0 0 RTP1 132112 broad.mit.edu 37 3 186917561 186917561 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:186917561C>G ENST00000312295.4 + 2 525 c.495C>G c.(493-495)tgC>tgG p.C165W RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 165 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GCGAGCAGTGCTACGGCGAGC 0.687000 21 29 0 0 0.008871 0 0 RIC8B 55188 broad.mit.edu 37 12 107245264 107245264 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:107245264G>A ENST00000392837.4 + 7 1349 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K RIC8B_ENST00000392839.2_Missense_Mutation_p.E400K|RIC8B_ENST00000355478.2_Missense_Mutation_p.E360K|RIC8B_ENST00000549643.1_Intron Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 400 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 AAATCGACCTGAAGTTGGCTC 0.448000 8 76 0 0 0.003080 0 0 REEP5 7905 broad.mit.edu 37 5 112256898 112256898 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:112256898G>C ENST00000379638.4 - 2 522 c.174C>G c.(172-174)ctC>ctG p.L58L REEP5_ENST00000545426.1_Silent_p.L58L|REEP5_ENST00000513339.1_Silent_p.L58L|REEP5_ENST00000504247.1_Silent_p.L58L|REEP5_ENST00000474542.2_5'UTR NM_005669.4 NP_005660.4 Q00765 REEP5_HUMAN receptor accessory protein 5 58 integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) TCAGGTTGCAGAGGAGAGAGG 0.597000 7 43 0 0 0.003080 0 0 C6 729 broad.mit.edu 37 5 41203191 41203191 + Splice_Site SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:41203191T>C ENST00000263413.3 - 2 406 c.143_splice c.e2+1 p.R48_splice C6_ENST00000337836.5_Splice_Site_p.R48_splice NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 48 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CACACCCACCTGTGTCTGCTC 0.478000 6 238 0 0 0.001168 0 0 XKR8 55113 broad.mit.edu 37 1 28293631 28293631 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:28293631C>A ENST00000373884.5 + 3 1716 c.1108C>A c.(1108-1110)Cag>Aag p.Q370K NM_018053.2 NP_060523.2 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related family, member 8 370 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) TCAGCTGCCTCAGAACAGGCG 0.577000 10 71 9.70103e-10 1.0453e-09 0.008291 1 0 C3orf79 152118 broad.mit.edu 37 3 153202424 153202424 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:153202424C>G ENST00000446603.2 + 1 141 c.79C>G c.(79-81)Ctt>Gtt p.L27V RP11-23D24.2_ENST00000493214.2_RNA NM_001101337.1 NP_001094807.1 P0CE67 CC079_HUMAN chromosome 3 open reading frame 79 27 endometrium(1)|large_intestine(3) 4 CAGTTGCCATCTTCTGCCTAC 0.413000 19 236 0 0 0.006122 0 0 EMR2 30817 broad.mit.edu 37 19 14884783 14884783 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:14884783C>T ENST00000315576.3 - 4 617 c.166G>A c.(166-168)Gag>Aag p.E56K EMR2_ENST00000353876.1_Missense_Mutation_p.E56K|EMR2_ENST00000594076.1_Missense_Mutation_p.E56K|EMR2_ENST00000594294.1_Missense_Mutation_p.E56K|EMR2_ENST00000346057.1_Missense_Mutation_p.E56K|EMR2_ENST00000601345.1_Missense_Mutation_p.E56K|EMR2_ENST00000392965.3_Missense_Mutation_p.E56K|EMR2_ENST00000595839.1_Missense_Mutation_p.E56K|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000353005.1_Missense_Mutation_p.E56K|EMR2_ENST00000596991.2_Missense_Mutation_p.E56K|EMR2_ENST00000392967.2_Missense_Mutation_p.E56K NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 56 EGF-like 1. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GTGATGATCTCAGAAAAAGAG 0.602000 29 109 0 0 0.007291 0 0 RBM28 55131 broad.mit.edu 37 7 127961459 127961459 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:127961459G>C ENST00000223073.1 - 14 1537 c.1423C>G c.(1423-1425)Cag>Gag p.Q475E RBM28_ENST00000415472.2_Missense_Mutation_p.Q334E|RBM28_ENST00000481788.1_5'UTR NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 475 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TTGAGTTTCTGATGCTTCAGC 0.433000 6 47 0 0 0.001984 0 0 TGM6 343641 broad.mit.edu 37 20 2378615 2378615 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:2378615G>A ENST00000202625.2 + 5 656 c.595G>A c.(595-597)Ggt>Agt p.G199S TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.G199S NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 199 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TCGAAGCCCCGGTCACCAAAA 0.587000 6 69 0 0 0.001984 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146536831 146536831 + Silent SNP C C T rs145162968 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:146536831C>T ENST00000361727.3 + 3 753 c.237C>T c.(235-237)agC>agT p.S79S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 79 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CATCAGACAGCGACCATTATC 0.448000 HNSCC(39;0.1) 11 54 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179414566 179414566 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:179414566C>T ENST00000589042.1 - 338 92107 c.91883G>A c.(91882-91884)aGa>aAa p.R30628K TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R28987K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21563K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21688K|TTN_ENST00000342992.6_Missense_Mutation_p.R28060K|TTN_ENST00000342175.6_Missense_Mutation_p.R21755K|RP11-65L3.2_ENST00000603415.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28987 Fibronectin type-III 123. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTGGTGAATCTTATTGGCCC 0.403000 5 109 0 0 0.000602 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317105 30317105 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:30317105C>G ENST00000375377.1 - 3 2073 c.1972G>C c.(1972-1974)Gac>Cac p.D658H NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 658 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GTTTGTCTGTCTTCTTCTGGT 0.517000 8 51 0 0 0.004482 0 0 PAK7 57144 broad.mit.edu 37 20 9520219 9520219 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:9520219C>G ENST00000378429.3 - 11 2596 c.2050G>C c.(2050-2052)Gag>Cag p.E684Q PAK7_ENST00000353224.5_Missense_Mutation_p.E684Q|PAK7_ENST00000378423.1_Missense_Mutation_p.E684Q NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 684 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity 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) TGAGAGGGCTCCCTCACCAAC 0.507000 26 152 0 0 0.008361 0 0 LAMC1 3915 broad.mit.edu 37 1 183106903 183106903 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:183106903G>C ENST00000258341.4 + 26 4671 c.4414G>C c.(4414-4416)Gaa>Caa p.E1472Q NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1472 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.E1472*(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAGGAAGCAGAAAAAGAGCT 0.428000 6 32 0 0 0.001168 0 0 C1orf106 55765 broad.mit.edu 37 1 200880920 200880920 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:200880920G>A ENST00000367342.4 + 9 1754 c.1554G>A c.(1552-1554)ccG>ccA p.P518P C1orf106_ENST00000413687.2_Silent_p.P433P NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 518 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GCTATTTCCCGGCGGGGCGGT 0.726000 13 48 0 0 0.001368 0 0 MEPE 56955 broad.mit.edu 37 4 88766888 88766888 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:88766888G>A ENST00000497649.2 + 6 1174 c.796G>A c.(796-798)Gaa>Aaa p.E266K MEPE_ENST00000560249.1_Missense_Mutation_p.E177K|MEPE_ENST00000540395.1_Missense_Mutation_p.E177K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.E321K|MEPE_ENST00000424957.3_Missense_Mutation_p.E290K|MEPE_ENST00000361056.3_Missense_Mutation_p.E290K Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 290 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGGCCCAAGTGAAGCTGAGAG 0.448000 9 55 0 0 0.006214 0 0 C7orf57 136288 broad.mit.edu 37 7 48092304 48092304 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:48092304C>G ENST00000348904.3 + 7 825 c.613C>G c.(613-615)Caa>Gaa p.Q205E C7orf57_ENST00000435376.1_Intron|C7orf57_ENST00000430738.1_Missense_Mutation_p.Q250E|C7orf57_ENST00000539619.1_Missense_Mutation_p.Q205E|C7orf57_ENST00000420324.1_Intron NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 205 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 AAGGCCTGGTCAAAAAAACAG 0.408000 5 99 0 0 0.000602 0 0 UROD 7389 broad.mit.edu 37 1 45480410 45480410 + Silent SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:45480410C>A ENST00000246337.4 + 8 896 c.777C>A c.(775-777)atC>atA p.I259I UROD_ENST00000494399.1_3'UTR NM_000374.4 NP_000365.3 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 259 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) TTTTCTAGATCATCTTTGCTA 0.527000 Porphyria Cutanea Tarda, Type II OREG0013449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 33 0.00909568 0.00943507 0.009096 1 0 LGI4 163175 broad.mit.edu 37 19 35616221 35616221 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:35616221G>A ENST00000310123.3 - 9 2009 c.1490C>T c.(1489-1491)cCg>cTg p.P497L LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 497 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CACCAGGGCCGGAGGCCCCAG 0.642000 10 51 0 0 0.008291 0 0 MYH9 4627 broad.mit.edu 37 22 36708234 36708234 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr22:36708234C>T ENST00000216181.5 - 14 1818 c.1588G>A c.(1588-1590)Gag>Aag p.E530K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 530 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity p.E530K(1) NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CAGCACTCCTCGTCCAGCAGG 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 12 65 0 0 0.001855 0 0 KIAA0556 23247 broad.mit.edu 37 16 27751533 27751533 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:27751533G>C ENST00000261588.4 + 15 1934 c.1915G>C c.(1915-1917)Gaa>Caa p.E639Q NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 639 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TCACTCGGAAGAAAGCAAAGG 0.562000 7 59 0 0 0.001984 0 0 ABCG4 64137 broad.mit.edu 37 11 119025544 119025544 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:119025544C>G ENST00000307417.3 + 6 969 c.605C>G c.(604-606)tCt>tGt p.S202C ABCG4_ENST00000531739.1_Missense_Mutation_p.S202C|ABCG4_ENST00000449422.2_Missense_Mutation_p.S202C NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 202 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity p.S202Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCCCTGCTCTCTGGCGGGCAG 0.622000 17 142 0 0 0.010504 0 0 IQCG 84223 broad.mit.edu 37 3 197665630 197665630 + Nonsense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:197665630C>A ENST00000265239.6 - 5 728 c.304G>T c.(304-306)Gaa>Taa p.E102* IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Nonsense_Mutation_p.E102*|IQCG_ENST00000453254.1_Nonsense_Mutation_p.E102* NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 102 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TTCGTTCCTTCTAGATTCATT 0.338000 27 184 2.44723e-14 2.66796e-14 0.004656 1 0 GRM3 2913 broad.mit.edu 37 7 86468876 86468876 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:86468876C>A ENST00000361669.2 + 4 3145 c.2046C>A c.(2044-2046)ttC>ttA p.F682L GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.F274L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.F554L NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 682 synaptic transmission integral to plasma membrane p.F682L(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGCCAAAATTCATCAGCCCCA 0.542000 18 71 2.35188e-11 2.54406e-11 0.006122 1 0 NIPA2 81614 broad.mit.edu 37 15 23012399 23012399 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr15:23012399G>A ENST00000337451.3 - 7 940 c.328C>T c.(328-330)Ctt>Ttt p.L110F NIPA2_ENST00000539711.2_Missense_Mutation_p.L91F|NIPA2_ENST00000398013.3_Missense_Mutation_p.L110F|NIPA2_ENST00000398014.2_Missense_Mutation_p.L110F|NIPA2_ENST00000359727.4_Missense_Mutation_p.L91F NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 110 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) TTCCCATGAAGATTAAGTCTT 0.333000 9 67 0 0 0.006214 0 0 ESRRB 2103 broad.mit.edu 37 14 76966231 76966231 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:76966231C>G ENST00000380887.2 + 8 1394 c.1322C>G c.(1321-1323)tCt>tGt p.S441C RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000261532.7_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.S441C A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 441 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CTTAGAGGATCTCCCAAGGAT 0.512000 6 53 0 0 0.001168 0 0 PEA15 8682 broad.mit.edu 37 1 160181434 160181434 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:160181434G>A ENST00000368076.1 + 4 511 c.163G>A c.(163-165)Gaa>Aaa p.E55K PEA15_ENST00000368077.1_Missense_Mutation_p.E34K|PEA15_ENST00000360472.4_Missense_Mutation_p.E34K|PEA15_ENST00000488858.1_3'UTR Q15121 PEA15_HUMAN phosphoprotein enriched in astrocytes 15 34 DED. anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import cytoplasm|microtubule associated complex protein binding large_intestine(1)|lung(4) 5 all_cancers(52;3.11e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATCCCCAGCGAAAAGAGTGA 0.557000 12 75 0 0 0.001368 0 0 C12orf5 57103 broad.mit.edu 37 12 4459054 4459054 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:4459054C>T ENST00000179259.4 + 4 329 c.262C>T c.(262-264)Cgg>Tgg p.R88W C12orf5_ENST00000537251.1_3'UTR NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 88 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) CTCAAGACTTCGGGAAAGGGT 0.353000 8 27 0 0 0.006214 0 0 TSSC2 650368 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 61 0 0 0.000602 0 0 HAS2 3037 broad.mit.edu 37 8 122626424 122626424 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:122626424C>T ENST00000303924.4 - 4 2121 c.1584G>A c.(1582-1584)acG>acA p.T528T NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 528 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) CTACATACAGCGTCAAAAGCA 0.408000 14 84 0 0 0.003163 0 0 PPM1A 5494 broad.mit.edu 37 14 60750214 60750214 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:60750214G>C ENST00000395076.4 + 2 1223 c.793G>C c.(793-795)Gag>Cag p.E265Q PPM1A_ENST00000529574.1_Missense_Mutation_p.E265Q|PPM1A_ENST00000325658.3_Missense_Mutation_p.E265Q|PPM1A_ENST00000325642.3_Missense_Mutation_p.E338Q NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 265 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) TGATGACCTTGAGAAAGTTTG 0.348000 8 86 0 0 0.006214 0 0 OR2J3 442186 broad.mit.edu 37 6 29079743 29079743 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:29079743C>G ENST00000377169.1 + 1 76 c.76C>G c.(76-78)Ctg>Gtg p.L26V NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TTGGCCTCATCTGGAAGTAGT 0.383000 33 109 0 0 0.010818 0 0 ALOX15 246 broad.mit.edu 37 17 4535217 4535217 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:4535217G>A ENST00000570836.1 - 14 1872 c.1776C>T c.(1774-1776)atC>atT p.I592I ALOX15_ENST00000574640.1_Silent_p.I553I|ALOX15_ENST00000545513.1_Silent_p.I614I|ALOX15_ENST00000293761.3_Silent_p.I592I P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 592 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GCTGCCAAGTGATGGACATCT 0.627000 4 47 0 0 0.000602 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102476268 102476268 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:102476268C>T ENST00000360184.4 + 30 6230 c.6066C>T c.(6064-6066)taC>taT p.Y2022Y NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2022 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ACCCTGGCTACGCGGGCCGGT 0.552000 7 38 0 0 0.001984 0 0 WDR19 57728 broad.mit.edu 37 4 39276495 39276495 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:39276495C>T ENST00000399820.3 + 33 3787 c.3633C>T c.(3631-3633)ttC>ttT p.F1211F WDR19_ENST00000288634.7_Silent_p.F1051F NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1211 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 ACTCTGCTTTCAGCTTCGCAG 0.488000 8 96 0 0 0.003080 0 0 LAMC1 3915 broad.mit.edu 37 1 183103932 183103932 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:183103932G>C ENST00000258341.4 + 23 4244 c.3987G>C c.(3985-3987)aaG>aaC p.K1329N NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1329 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAAAGGCAAGACTGAACAGC 0.428000 32 174 0 0 0.002836 0 0 DNAH5 1767 broad.mit.edu 37 5 13841896 13841896 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:13841896G>C ENST00000265104.4 - 33 5493 c.5389C>G c.(5389-5391)Cag>Gag p.Q1797E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1797 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AATGAGGACTGAGATTCTTCC 0.438000 Kartagener syndrome 7 50 0 0 0.001984 0 0 TCF4 6925 broad.mit.edu 37 18 52928732 52928732 + Missense_Mutation SNP G G T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr18:52928732G>T ENST00000354452.3 - 12 1566 c.955C>A c.(955-957)Cag>Aag p.Q319K TCF4_ENST00000566279.1_Missense_Mutation_p.Q259K|TCF4_ENST00000537578.1_Missense_Mutation_p.Q295K|TCF4_ENST00000567880.1_Missense_Mutation_p.Q259K|TCF4_ENST00000398339.1_Missense_Mutation_p.Q421K|TCF4_ENST00000561992.1_Missense_Mutation_p.Q189K|TCF4_ENST00000570287.2_Missense_Mutation_p.Q159K|TCF4_ENST00000564228.1_Missense_Mutation_p.Q248K|TCF4_ENST00000543082.1_Missense_Mutation_p.Q277K|TCF4_ENST00000540999.1_Missense_Mutation_p.Q295K|TCF4_ENST00000537856.3_Missense_Mutation_p.Q189K|TCF4_ENST00000566286.1_Missense_Mutation_p.Q317K|TCF4_ENST00000564999.1_Missense_Mutation_p.Q319K|TCF4_ENST00000544241.2_Missense_Mutation_p.Q248K|TCF4_ENST00000565018.2_Missense_Mutation_p.Q319K|TCF4_ENST00000457482.3_Missense_Mutation_p.Q159K|TCF4_ENST00000570177.2_Missense_Mutation_p.Q189K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561831.3_Missense_Mutation_p.Q159K|TCF4_ENST00000568740.1_Missense_Mutation_p.Q294K|TCF4_ENST00000356073.4_Missense_Mutation_p.Q319K|TCF4_ENST00000564403.2_Missense_Mutation_p.Q325K|TCF4_ENST00000568673.1_Missense_Mutation_p.Q295K NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 319 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TCTCCAGTCTGGGAGCTGCCG 0.458000 43 227 8.17448e-37 8.94687e-37 0.011902 1 0 FAT1 2195 broad.mit.edu 37 4 187539227 187539227 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:187539227G>C ENST00000441802.2 - 10 8722 c.8513C>G c.(8512-8514)tCa>tGa p.S2838* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2838 Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTTGGTTCCTGAGTCAGCATC 0.448000 HNSCC(5;0.00058) 15 106 0 0 0.004007 0 0 APPL2 55198 broad.mit.edu 37 12 105568151 105568151 + Nonsense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:105568151G>A ENST00000258530.3 - 21 2161 c.1936C>T c.(1936-1938)Caa>Taa p.Q646* APPL2_ENST00000546731.1_Nonsense_Mutation_p.Q89*|APPL2_ENST00000539978.2_Nonsense_Mutation_p.Q603*|APPL2_ENST00000551662.1_Nonsense_Mutation_p.Q652* NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 646 cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TCATCTGGTTGATCGTTTAAC 0.453000 7 43 0 0 0.001984 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377069 50377069 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:50377069G>A ENST00000376020.2 - 4 2029 c.2004C>T c.(2002-2004)ctC>ctT p.L668L SHROOM4_ENST00000289292.7_Silent_p.L668L|SHROOM4_ENST00000460112.3_Silent_p.L552L NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 668 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GGGCTTGGCTGAGGCACTCGG 0.527000 7 15 0 0 0.003080 0 0 ANK2 287 broad.mit.edu 37 4 114158298 114158298 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:114158298G>C ENST00000357077.4 + 6 692 c.639G>C c.(637-639)caG>caC p.Q213H ANK2_ENST00000394537.3_Missense_Mutation_p.Q213H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q192H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q213H NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 213 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCTGCTTCAGAATGACCACA 0.488000 11 125 0 0 0.008291 0 0 ZNF417 147687 broad.mit.edu 37 19 58420667 58420667 + Missense_Mutation SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:58420667T>C ENST00000312026.5 - 3 1143 c.979A>G c.(979-981)Aga>Gga p.R327G ZNF417_ENST00000595559.1_Missense_Mutation_p.R326G|ZNF417_ENST00000536263.1_Missense_Mutation_p.R128G|CTD-2583A14.9_ENST00000602124.1_Intron NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CCATATTCTCTACACTCATAA 0.463000 12 257 0 0 0.010729 0 0 CYP2B6 1555 broad.mit.edu 37 19 41522664 41522664 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:41522664C>G ENST00000324071.4 + 9 1415 c.1408C>G c.(1408-1410)Ctg>Gtg p.L470V CYP2B6_ENST00000330446.5_Missense_Mutation_p.L270V|CYP2B6_ENST00000593831.1_Missense_Mutation_p.L234V NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 470 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AGACATCGATCTGACACCCCA 0.582000 7 24 0 0 0.001984 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367753 145367753 + Frame_Shift_Del DEL G G - TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:145367753delG ENST00000342960.5 + 83 10384 c.10349delG c.(10348-10350)aafs p.R3451fs NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3451 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) agaaggggaagaagatcaaag 0.413 13 102 --- --- --- --- MTPAP 55149 broad.mit.edu 37 10 30653930 30653932 + In_Frame_Del DEL TCC TCC - TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:30653930_30653932delTCC ENST00000358107.4 - 2 249_251 c.250_252delGGA c.(250-252)del p.G84del MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 0 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 CCTGATGATGTCCTCCTCCTCCT 0.635 7 28 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 7 552 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578217 7578218 + Frame_Shift_Del DEL GT GT - TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:7578217_7578218delGT ENST00000420246.2 - 6 763_764 c.631_632delAC c.(631-633)tfs p.T211fs TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.T211fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.T211fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.T211fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 211 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.T211fs*4(3)|p.T211fs*36(2)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.R209fs*36(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGTCGAAAAGTGTTTCTGTCA 0.535 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 29 --- --- --- ---