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 ADH1C 126 broad.mit.edu 37 4 100266127 100266127 + RNA SNP C C G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr4:100266127C>G ENST00000510055.1 - 0 633 ADH1C_ENST00000515683.1_RNA P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CATTCTCATCCACCACTGTGT 0.577000 6 73 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10789666 10789666 + Missense_Mutation SNP C C G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr11:10789666C>G ENST00000361367.2 + 15 2344 c.1918C>G c.(1918-1920)Ctc>Gtc p.L640V NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 640 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CAAACAAGTACTCAGAAATGA 0.363000 31 40 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25937180 25937180 + Silent SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr17:25937180G>A ENST00000398988.3 + 19 2413 c.1968G>A c.(1966-1968)gaG>gaA p.E656E KSR1_ENST00000268763.6_Silent_p.E656E|KSR1_ENST00000319524.6_Silent_p.E793E|KSR1_ENST00000509603.2_Silent_p.E771E|KSR1_ENST00000582410.1_Silent_p.E7E NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 791 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGAAGGACGAGGATCAGCTGC 0.587000 OREG0024262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 56 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6026444 6026444 + Missense_Mutation SNP T T C rs143844197 by1000genomes TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr7:6026444T>C ENST00000265849.7 - 11 2057 c.1952A>G c.(1951-1953)aAg>aGg p.K651R PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 651 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AGGACAAATCTTTGCCCTAAA 0.328000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 4 96 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 47 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9863274 9863274 + Missense_Mutation SNP C C A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chrX:9863274C>A ENST00000380913.3 + 4 1416 c.1326C>A c.(1324-1326)agC>agA p.S442R NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 442 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GTGCTGACAGCCTTGGGCAGG 0.652000 6 90 0.248553 0.248553 1 1 0 TRBC2 0 broad.mit.edu 37 7 142499637 142499637 + RNA SNP T T C rs1126990 TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr7:142499637T>C ENST00000466254.1 + 0 397 GACTGTGGCTTCACCTCCGGT 0.493000 6 557 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32912670 32912670 + Missense_Mutation SNP C C T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr13:32912670C>T ENST00000544455.1 + 11 4405 c.4178C>T c.(4177-4179)gCg>gTg p.A1393V BRCA2_ENST00000380152.3_Missense_Mutation_p.A1393V NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1393 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTGGAAGTTGCGAAAGCTCAA 0.333000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 25 37 0 0 1 0 0 NKD2 85409 broad.mit.edu 37 5 1034967 1034967 + Missense_Mutation SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr5:1034967G>A ENST00000296849.5 + 7 752 c.523G>A c.(523-525)Gtc>Atc p.V175I NKD2_ENST00000274150.4_Missense_Mutation_p.V175I|NKD2_ENST00000537972.1_Missense_Mutation_p.V175I NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 175 Interaction with DVL1, DVL2 and DVL3 (By similarity). exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding p.V175I(1) breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GAAGCTAACCGTCAGCCCTGA 0.617000 7 24 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797890 148797890 + Missense_Mutation SNP G G C TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chrX:148797890G>C ENST00000355220.5 + 5 846 c.744G>C c.(742-744)atG>atC p.M248I MAGEA11_ENST00000333104.4_Missense_Mutation_p.M219I NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 248 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AGGCAGAAATGCTGGGGAGTG 0.413000 7 165 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138643011 138643011 + Missense_Mutation SNP G G A rs137852247 TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chrX:138643011G>A ENST00000218099.2 + 7 842 c.835G>A c.(835-837)Gca>Aca p.A279T F9_ENST00000394090.2_Missense_Mutation_p.A241T NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 279 Peptidase S1. A -> T (in HEMB; mild). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TACAGTTGTCGCAGGTAAATA 0.353000 32 98 0 0 1 0 0 RCN3 57333 broad.mit.edu 37 19 50031918 50031918 + Silent SNP A A G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr19:50031918A>G ENST00000270645.3 + 2 636 c.189A>G c.(187-189)gaA>gaG p.E63E RCN3_ENST00000593644.1_3'UTR NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 63 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) TGGGACGGGAAGTGGCCAAGG 0.637000 39 26 0 0 1 0 0 GRIA4 0 broad.mit.edu 37 11 105845182 105845182 + Missense_Mutation SNP G G C TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr11:105845182G>C ENST00000393127.2 + 16 3001 c.2555G>C c.(2554-2556)aGt>aCt p.S852T GRIA4_ENST00000525187.1_Missense_Mutation_p.S852T|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Intron NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 852 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GTGGCAAAGAGTGCACAGACT 0.438000 4 79 0 0 1 0 0 KLHL41 10324 broad.mit.edu 37 2 170367045 170367045 + Missense_Mutation SNP A A G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr2:170367045A>G ENST00000284669.1 + 1 834 c.757A>G c.(757-759)Aaa>Gaa p.K253E BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 GAAAAAAATCAAAGTTCTAAA 0.398000 5 77 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10710809 10710809 + Silent SNP G G A rs141036792 by1000genomes TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr1:10710809G>A ENST00000377022.3 - 13 3137 c.2820C>T c.(2818-2820)aaC>aaT p.N940N CASZ1_ENST00000344008.5_Silent_p.N940N|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 940 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CATTTGATTCGTTGCTAGAAC 0.597000 27 80 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72832755 72832755 + Missense_Mutation SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr17:72832755G>A ENST00000335464.5 + 10 1582 c.1420G>A c.(1420-1422)Gtg>Atg p.V474M TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V474M NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 474 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GGTGGGCTTCGTGCTGCTCTG 0.592000 29 32 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 51 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130079712 130079712 + Silent SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr11:130079712G>A ENST00000278742.5 + 19 2980 c.2562G>A c.(2560-2562)ggG>ggA p.G854G NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 854 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) AGAACACTGGGGTATAGGGGC 0.637000 5 108 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77765887 77765887 + Silent SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr14:77765887G>A ENST00000261534.4 - 7 1036 c.834C>T c.(832-834)caC>caT p.H278H NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 278 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) GAGCAGTCAGGTGTTTTCCCA 0.498000 9 62 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43649290 43649290 + Missense_Mutation SNP C C G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr5:43649290C>G ENST00000264663.5 + 11 1707 c.1486C>G c.(1486-1488)Cta>Gta p.L496V NNT_ENST00000344920.4_Missense_Mutation_p.L496V|NNT_ENST00000512996.2_Missense_Mutation_p.L365V NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 496 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GGCTCCCAATCTAGCCTTTTC 0.498000 109 167 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198668788 198668788 + Missense_Mutation SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr1:198668788G>A ENST00000367376.2 + 5 559 c.388G>A c.(388-390)Gcc>Acc p.A130T PTPRC_ENST00000442510.2_Missense_Mutation_p.A132T|PTPRC_ENST00000352140.3_Missense_Mutation_p.A130T|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 130 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CGGCTCCGCCGCCAATGCAAA 0.532000 OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 203 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962319 69962319 + Silent SNP G G T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr4:69962319G>T ENST00000305231.7 + 1 127 c.81G>T c.(79-81)ctG>ctT p.L27L UGT2B7_ENST00000508661.1_Silent_p.L27L|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 27 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAAAGGTGCTGGTGTGGGCAG 0.433000 11 93 3.07112e-06 3.16861e-06 1 1 0 CD72 971 broad.mit.edu 37 9 35618218 35618218 + Splice_Site SNP C C A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr9:35618218C>A ENST00000396757.1 - 2 247 c.e2+1 CD72_ENST00000378431.1_Splice_Site|CD72_ENST00000490239.1_Intron|CD72_ENST00000259633.4_Splice_Site|CD72_ENST00000378430.3_Splice_Site P21854 CD72_HUMAN CD72 molecule axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATCCCCCTTACCCTGTCCTAA 0.567000 26 35 3.65163e-15 3.82832e-15 1 1 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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) 5 35 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103495451 103495451 + Missense_Mutation SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chrX:103495451G>A ENST00000372588.4 - 4 762 c.679C>T c.(679-681)Cct>Tct p.P227S NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 227 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 TCCAGAGCAGGAGCAGCATAA 0.552000 14 209 0 0 1 0 0 HOXC4 3221 broad.mit.edu 37 12 54447975 54447975 + Missense_Mutation SNP A A C TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr12:54447975A>C ENST00000430889.2 + 1 315 c.269A>C c.(268-270)cAc>cCc p.H90P HOXC4_ENST00000303406.4_Missense_Mutation_p.H90P NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 90 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GGCCACCACCACCCCGAGAAA 0.736000 7 44 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 18 33 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885464 180885464 + Silent SNP A A G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr1:180885464A>G ENST00000367588.4 + 2 280 c.225A>G c.(223-225)gtA>gtG p.V75V NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 75 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 TATGGGGAGTACAGCTCCAGG 0.597000 18 27 0 0 1 0 0 RAP2C 57826 broad.mit.edu 37 X 131348314 131348314 + Missense_Mutation SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chrX:131348314G>A ENST00000342983.2 - 3 1180 c.434C>T c.(433-435)aCa>aTa p.T145I RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T145I NM_001271186.1|NM_001271187.1|NM_021183.3 NP_001258115.1|NP_001258116.1|NP_067006.3 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family 145 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 8 Acute lymphoblastic leukemia(192;0.000127) TTTTGCCGATGTCTCCATGAA 0.443000 25 67 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371692 109371692 + Missense_Mutation SNP T T C TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr2:109371692T>C ENST00000283195.6 + 17 2569 c.2443T>C c.(2443-2445)Tgc>Cgc p.C815R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 815 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAAATGATTTGCCAACAAGT 0.348000 4 163 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915148 119915148 + Silent SNP C C T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr7:119915148C>T ENST00000331113.4 + 1 1427 c.462C>T c.(460-462)acC>acT p.T154T NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 154 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) ACGCGGATACCGACACCGCTG 0.622000 6 101 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009261 120009261 + Silent SNP C C T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chrX:120009261C>T ENST00000371311.3 - 1 518 c.264G>A c.(262-264)ggG>ggA p.G88G NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 88 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 ccGTCGCGGGCCCGATATCTG 0.721000 10 20 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7412932 7412932 + Missense_Mutation SNP A A T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr17:7412932A>T ENST00000322644.6 + 22 4193 c.3794A>T c.(3793-3795)gAt>gTt p.D1265V NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1265 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ATGAACAGCGATGAGAACAAG 0.458000 13 115 0 0 1 0 0 TCEA2 6919 broad.mit.edu 37 20 62701881 62701881 + Missense_Mutation SNP A A T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr20:62701881A>T ENST00000361317.2 + 9 1073 c.631A>T c.(631-633)Atg>Ttg p.M211L TCEA2_ENST00000343484.5_Missense_Mutation_p.M238L|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR NM_198723.1 NP_942016.1 Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 238 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CCGTAAGGCCATGACCAAGGA 0.632000 24 40 0 0 1 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507263 71507263 + Silent SNP A A G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr11:71507263A>G ENST00000528685.1 + 3 360 c.360A>G c.(358-360)acA>acG p.T120T FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 CTGTCCCTACAGGACTCCAGT 0.627000 4 110 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139752161 139752161 + Missense_Mutation SNP A A G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr9:139752161A>G ENST00000445819.1 + 21 2664 c.2614A>G c.(2614-2616)Acg>Gcg p.T872A MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T793A Q6UXC1 AEGP_HUMAN MAM domain containing 4 872 MAM 5. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCGGGGCCAGACGGCCTCCCT 0.677000 3 21 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18768782 18768782 + Missense_Mutation SNP C C T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr2:18768782C>T ENST00000304081.4 - 2 207 c.107G>A c.(106-108)cGt>cAt p.R36H NT5C1B_ENST00000600945.1_Missense_Mutation_p.R36H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R36H|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R36H NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) ATTGCTCAGACGAACTCCTGT 0.438000 36 60 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135314939 135314939 + Missense_Mutation SNP C C T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr6:135314939C>T ENST00000367837.5 - 8 1246 c.1040G>A c.(1039-1041)gGc>gAc p.G347D HBS1L_ENST00000415177.2_Missense_Mutation_p.G282D|HBS1L_ENST00000367826.2_Missense_Mutation_p.G305D|HBS1L_ENST00000527578.1_Missense_Mutation_p.G183D|HBS1L_ENST00000367824.4_Missense_Mutation_p.G183D|HBS1L_ENST00000445176.2_Missense_Mutation_p.G71D NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 347 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) GTCCTTATGGCCTGGAGCATC 0.368000 3 23 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. 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 p.G3519G(3) 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) cgccgccgccaccgccgccgc 0.716000 6 42 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 31 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36268615 36268615 + Silent SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr19:36268615G>A ENST00000007510.4 + 2 219 c.75G>A c.(73-75)ggG>ggA p.G25G ARHGAP33_ENST00000378944.5_Intron|ARHGAP33_ENST00000314737.5_Silent_p.G25G|ARHGAP33_ENST00000221905.1_3'UTR O14559 RHG33_HUMAN Rho GTPase activating protein 33 25 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CTGCTGGGGGGCCCAGTGTGA 0.642000 3 7 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73169701 73169701 + Missense_Mutation SNP T T C TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr4:73169701T>C ENST00000286657.4 - 17 2393 c.2357A>G c.(2356-2358)tAt>tGt p.Y786C NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 786 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCAATGTTATAATCCCACTC 0.413000 5 208 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6650970 6650970 + Silent SNP G G A rs144759454 TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr11:6650970G>A ENST00000299441.3 - 11 5379 c.4968C>T c.(4966-4968)gtC>gtT p.V1656V NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1656 Cadherin 16. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACGCAAGAGGACGCTGTACT 0.632000 11 20 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51512879 51512879 + Missense_Mutation SNP G G C TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr6:51512879G>C ENST00000371117.3 - 63 11623 c.11348C>G c.(11347-11349)cCa>cGa p.P3783R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3783 P -> S (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AATTGTCCATGGCTCTGAAGG 0.423000 27 60 0 0 1 0 0 C4orf19 55286 broad.mit.edu 37 4 37591775 37591775 + Missense_Mutation SNP T T C TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr4:37591775T>C ENST00000284437.6 + 3 276 c.98T>C c.(97-99)cTa>cCa p.L33P C4orf19_ENST00000381980.4_Missense_Mutation_p.L33P|C4orf19_ENST00000508175.1_Intron NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 33 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 AGCTGCAAGCTAGATGAAGAC 0.458000 10 369 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21212828 21212828 + Missense_Mutation SNP A A G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr16:21212828A>G ENST00000574002.1 - 15 2038 c.1556T>C c.(1555-1557)tTc>tCc p.F519S ZP2_ENST00000574091.1_Missense_Mutation_p.F510S|ZP2_ENST00000219593.4_Missense_Mutation_p.F519S|AF001550.7_ENST00000572747.1_RNA Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 519 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TTGGCGGAGGAATCTCACTAG 0.448000 6 117 0 0 1 0 0 AP4B1 10717 broad.mit.edu 37 1 114438891 114438891 + Missense_Mutation SNP T T A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr1:114438891T>A ENST00000369569.1 - 8 1779 c.1499A>T c.(1498-1500)tAt>tTt p.Y500F AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y332F|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y500F NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 500 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TATGCAGTAATACAACAAACG 0.448000 6 123 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68938111 68938111 + Silent SNP C C T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr4:68938111C>T ENST00000356291.2 - 5 503 c.444G>A c.(442-444)aaG>aaA p.K148K RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 148 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 GATATAAAGCCTTTTCAATTT 0.323000 11 56 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 5 52 0 0 1 0 0 CBX4 8535 broad.mit.edu 37 17 77808940 77808940 + Missense_Mutation SNP T T A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr17:77808940T>A ENST00000269397.4 - 5 678 c.501A>T c.(499-501)aaA>aaT p.K167N CBX4_ENST00000448310.1_3'UTR NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 167 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGTCGTACATTTTGGGGTCGG 0.687000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 107 0 0 1 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747597 68747597 + Silent SNP G G A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr11:68747597G>A ENST00000309106.3 - 1 858 c.859C>T c.(859-861)Ctg>Ttg p.L287L NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 287 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGGTGGGCAGCCTGTGGCTC 0.662000 16 76 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 39 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119674329 119674329 + Missense_Mutation SNP A A T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chrX:119674329A>T ENST00000371322.5 - 11 1593 c.1532T>A c.(1531-1533)aTa>aAa p.I511K CUL4B_ENST00000336592.6_Missense_Mutation_p.I516K|CUL4B_ENST00000404115.3_Missense_Mutation_p.I529K NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 529 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GATATCAATTATATGGTCAAC 0.308000 4 64 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 93879733 93879733 + Silent SNP G G T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr13:93879733G>T ENST00000377047.4 + 1 639 c.24G>T c.(22-24)gtG>gtT p.V8V NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 8 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) TCGGGGCTGTGATTCTTCCCC 0.642000 OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 88 0.0167234 0.0169847 1 1 0 AC034193.5 0 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 10 40 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 3 6 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493648 77493650 + In_Frame_Del DEL GCG GCG - TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr14:77493648_77493650delGCG ENST00000238647.3 - 1 1384_1386 c.486_488delCGC c.(484-489)gct>gc p.AA162del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 162 Poly-Ala. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 TTCCACCgcagcggcggcggcgg 0.749 8 8 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57523394 57523394 + Frame_Shift_Del DEL T T - TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b34ce7c2-7592-4123-8c4e-50c80b01c9dd 18964457-ef9a-436c-8d75-b11c6c918e6e g.chr15:57523394delT ENST00000267811.5 + 9 928 c.624delT c.(622-624)tcfs p.S208fs TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S208fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S204fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S208fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S38fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S38fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.L20fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S208fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 208 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) ACCGTGAATCTCCTAGTTATC 0.353 T TEC extraskeletal myxoid chondrosarcoma 45 106 --- --- --- ---