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 DLGAP2 9228 broad.mit.edu 37 8 1497493 1497493 + Missense_Mutation SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr8:1497493G>A ENST00000421627.2 + 2 768 c.634G>A c.(634-636)Ggc>Agc p.G212S NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 291 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCCCCGGCCCGGCATGAGCAG 0.706000 17 36 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262298 45262298 + Missense_Mutation SNP G G C TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr5:45262298G>C ENST00000303230.4 - 8 2455 c.2398C>G c.(2398-2400)Ctg>Gtg p.L800V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 800 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTGGAAATCAGAGTGGACACC 0.657000 14 50 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122359475 122359475 + Silent SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr12:122359475G>A ENST00000288912.4 + 2 1118 c.264G>A c.(262-264)gaG>gaA p.E88E WDR66_ENST00000397454.2_Silent_p.E88E NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 88 Glu-rich. calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) AAGAGAAGGAGGCTTCAGGAA 0.498000 15 59 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101764298 101764298 + Missense_Mutation SNP T T G TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr12:101764298T>G ENST00000261637.4 + 50 6818 c.6644T>G c.(6643-6645)aTt>aGt p.I2215S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2215 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GAGGAGGACATTTATGATACT 0.418000 28 88 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72832366 72832366 + Missense_Mutation SNP G G A rs146892063 byFrequency TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr17:72832366G>A ENST00000335464.5 + 10 1193 c.1031G>A c.(1030-1032)cGc>cAc p.R344H TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.R344H|TMEM104_ENST00000582773.1_Intron NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 344 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) AACTTCGCGCGCTGTGACGTC 0.617000 8 210 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561768 11561768 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr1:11561768C>T ENST00000294484.6 + 2 857 c.719C>T c.(718-720)gCg>gTg p.A240V PTCHD2_ENST00000389575.3_Missense_Mutation_p.A240V NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 240 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCGCCCCACGCGGCAGTCGCG 0.687000 4 9 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 93518540 93518540 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr13:93518540C>T ENST00000377067.3 + 8 1939 c.1567C>T c.(1567-1569)Cca>Tca p.P523S NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 523 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TACAGGGATGCCAGATGATAT 0.433000 7 43 0 0 1 0 0 IGHV1OR21-1 0 broad.mit.edu 37 21 10862774 10862774 + RNA SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr21:10862774G>A ENST00000559480.1 + 0 70 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GGTACAGCTGGTGCAGTCTGG 0.552000 29 343 0 0 1 0 0 AZGP1P1 0 broad.mit.edu 37 7 99578411 99578411 + RNA SNP T T C rs62484970 by1000genomes TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr7:99578411T>C ENST00000425474.1 + 0 27 NR_036679.1 AAGAATGGTGTCTGTCCTGCT 0.582000 6 126 0 0 1 0 0 PHAX 51808 broad.mit.edu 37 5 125960507 125960507 + Missense_Mutation SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr5:125960507G>A ENST00000297540.4 + 5 1851 c.1156G>A c.(1156-1158)Gat>Aat p.D386N NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export 386 ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 CATTGAAGTTGATCATTCTCA 0.388000 14 53 0 0 1 0 0 PPAN-P2RY11 0 broad.mit.edu 37 19 10220890 10220890 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr19:10220890C>T ENST00000428358.1 + 8 962 c.790C>T c.(790-792)Cgg>Tgg p.R264W PPAN_ENST00000393793.1_Missense_Mutation_p.R211W|PPAN_ENST00000253107.7_Missense_Mutation_p.R264W|PPAN_ENST00000556468.1_Missense_Mutation_p.R264W|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R264W NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 264 Brix. RNA splicing nucleolus protein binding p.R264W(2) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TGGCAACATGCGGGCCCAGCA 0.692000 3 25 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 5 41 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 17 0.115264 0.115264 1 1 0 HIRIP3 8479 broad.mit.edu 37 16 30006000 30006000 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr16:30006000C>T ENST00000279392.3 - 4 1296 c.466G>A c.(466-468)Gga>Aga p.G156R HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 156 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 CTCTCCTCTCCCCTCTGTGCG 0.567000 61 224 0 0 1 0 0 MOCS3 27304 broad.mit.edu 37 20 49576665 49576665 + Nonsense_Mutation SNP C C G TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr20:49576665C>G ENST00000244051.1 + 1 1303 c.1286C>G c.(1285-1287)tCa>tGa p.S429* NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 429 Rhodanese. S -> A (in dbSNP:rs7269297). enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 CAGTCCTTATCAGCAGCTCAA 0.507000 29 87 0 0 1 0 0 GPR42 2866 broad.mit.edu 37 19 35863030 35863030 + Missense_Mutation SNP T T G TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr19:35863030T>G ENST00000454971.1 + 2 970 c.769T>G c.(769-771)Tgg>Ggg p.W257G GPR42_ENST00000597214.1_Missense_Mutation_p.W257G G protein-coupled receptor 42 (gene/pseudogene) endometrium(1)|kidney(1)|skin(2) 4 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) AAGCCCGGTGTGGAGGATCTA 0.587000 33 122 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51863511 51863511 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr12:51863511C>T ENST00000453097.2 + 12 1680 c.1463C>T c.(1462-1464)gCc>gTc p.A488V SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A435V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.A435V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A435V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A515V NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 488 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) CTGTACTGTGCCTGCATGTCA 0.512000 19 82 0 0 1 0 0 POR 5447 broad.mit.edu 37 7 75614476 75614476 + Missense_Mutation SNP T T C TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr7:75614476T>C ENST00000394893.1 + 12 1369 c.1349T>C c.(1348-1350)cTg>cCg p.L450P POR_ENST00000461988.1_Missense_Mutation_p.L450P|POR_ENST00000419840.1_Missense_Mutation_p.L264P|POR_ENST00000450476.1_Missense_Mutation_p.L349P|POR_ENST00000545601.1_Missense_Mutation_p.L258P|POR_ENST00000439269.1_Missense_Mutation_p.L188P P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 447 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) CTGTGTGAGCTGCTGCCGCGC 0.697000 6 35 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70530189 70530189 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr16:70530189C>T ENST00000323786.5 - 12 1648 c.1627G>A c.(1627-1629)Gag>Aag p.E543K NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 539 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) ATCTTCGCCTCGTCAGTACTC 0.527000 9 36 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66617415 66617415 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr11:66617415C>T ENST00000393960.1 - 20 3172 c.2891G>A c.(2890-2892)cGc>cAc p.R964H PC_ENST00000393955.2_Missense_Mutation_p.R964H|PC_ENST00000529047.1_Missense_Mutation_p.R84H|PC_ENST00000393958.2_Missense_Mutation_p.R964H NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 964 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TACCTTAGAGCGAAAGGGTTC 0.627000 13 45 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950264 235950264 + Missense_Mutation SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr2:235950264G>A ENST00000409212.1 + 4 1358 c.851G>A c.(850-852)cGa>cAa p.R284Q SH3BP4_ENST00000344528.4_Missense_Mutation_p.R284Q|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R284Q Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 284 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) GAGGATTTTCGAACTGCCTGG 0.592000 28 69 0 0 1 0 0 PTTG1IP 754 broad.mit.edu 37 21 46276212 46276212 + Silent SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr21:46276212G>A ENST00000330938.3 - 4 565 c.345C>T c.(343-345)atC>atT p.I115I PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_Silent_p.I94I NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 115 protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) AGCAGCAGCAGATGGCAATGC 0.622000 9 49 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1083312 1083312 + Missense_Mutation SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr11:1083312G>A ENST00000441003.2 + 16 2239 c.2212G>A c.(2212-2214)Gaa>Aaa p.E738K MUC2_ENST00000359061.5_Missense_Mutation_p.E738K NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 738 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAGGCAGGAAGAACGATGGTG 0.662000 6 13 0 0 1 0 0 PTPN13 0 broad.mit.edu 37 4 87724940 87724940 + Missense_Mutation SNP C C A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr4:87724940C>A ENST00000436978.1 + 43 7079 c.6599C>A c.(6598-6600)gCc>gAc p.A2200D PTPN13_ENST00000316707.6_Missense_Mutation_p.A2004D|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2200D|PTPN13_ENST00000427191.2_Missense_Mutation_p.A2176D|PTPN13_ENST00000411767.2_Missense_Mutation_p.A2195D NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2195 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TACACGGGTGCCAACTTAAAA 0.463000 11 103 1.08611e-07 1.14041e-07 1 1 0 RTF1 23168 broad.mit.edu 37 15 41750043 41750043 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr15:41750043C>T ENST00000389629.4 + 4 643 c.631C>T c.(631-633)Cgc>Tgc p.R211C NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 211 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) ACTGTTCAATCGCATAGAGAA 0.502000 22 76 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14620522 14620522 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr7:14620522C>T ENST00000403951.2 - 19 1996 c.1577G>A c.(1576-1578)gGc>gAc p.G526D DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.G518D|DGKB_ENST00000406247.3_Missense_Mutation_p.G526D|DGKB_ENST00000258767.5_Missense_Mutation_p.G526D|DGKB_ENST00000399322.3_Missense_Mutation_p.G526D|DGKB_ENST00000444700.2_Missense_Mutation_p.G507D|DGKB_ENST00000402815.1_Missense_Mutation_p.G525D Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 526 DAGKc. 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|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TAGATCATTGCCAGTCCCAAG 0.418000 16 27 0 0 1 0 0 WDR54 84058 broad.mit.edu 37 2 74652207 74652207 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr2:74652207C>T ENST00000348227.4 + 8 729 c.641C>T c.(640-642)cCg>cTg p.P214L WDR54_ENST00000409791.1_Missense_Mutation_p.P162L|WDR54_ENST00000461531.1_3'UTR NM_032118.2 NP_115494.1 Q9H977 WDR54_HUMAN WD repeat domain 54 214 breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 TGCAGAGTTCCGTGCCCCTCT 0.532000 15 39 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 11 56 0 0 1 0 0 PALM2-AKAP2 0 broad.mit.edu 37 9 112899916 112899916 + Missense_Mutation SNP A A G TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr9:112899916A>G ENST00000374530.3 + 8 2272 c.2092A>G c.(2092-2094)Acc>Gcc p.T698A PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.T698A|AKAP2_ENST00000555236.1_Missense_Mutation_p.T698A|AKAP2_ENST00000259318.7_Missense_Mutation_p.T467A|AKAP2_ENST00000510514.5_Missense_Mutation_p.T698A|AKAP2_ENST00000434623.2_Missense_Mutation_p.T556A|AKAP2_ENST00000374525.1_Missense_Mutation_p.T556A NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 467 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TGTCTCCTTGACCCAAGAGGA 0.502000 21 88 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8218801 8218801 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr4:8218801C>T ENST00000539824.1 + 7 892 c.518C>T c.(517-519)gCc>gTc p.A173V SH3TC1_ENST00000245105.3_Missense_Mutation_p.A249V Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 249 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GGAGAGGCGGCCCCGGAAACA 0.657000 7 39 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119214632 119214632 + Nonsense_Mutation SNP C C A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr11:119214632C>A ENST00000555262.1 - 9 1177 c.1018G>T c.(1018-1020)Gaa>Taa p.E340* MFRP_ENST00000449574.2_Nonsense_Mutation_p.E340*|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Nonsense_Mutation_p.E340*|MFRP_ENST00000360167.4_Intron NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) AACTGTAGTTCTATGCTGTGT 0.582000 25 73 2.41591e-17 2.5797e-17 1 1 0 TRIM23 373 broad.mit.edu 37 5 64887703 64887703 + Missense_Mutation SNP T T A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr5:64887703T>A ENST00000231524.9 - 11 1989 c.1618A>T c.(1618-1620)Agc>Tgc p.S540C TRIM23_ENST00000381018.3_Missense_Mutation_p.S540C|TRIM23_ENST00000274327.7_Missense_Mutation_p.S540C NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 540 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) ATATACCAGCTACGGCCACAG 0.438000 10 62 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828787 115828787 + Silent SNP C C T rs112292538 TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr1:115828787C>T ENST00000369512.2 - 3 798 c.630G>A c.(628-630)gcG>gcA p.A210A RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 210 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CCATGGTCAGCGCCTTGACAA 0.572000 27 74 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17396247 17396247 + Nonsense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr19:17396247C>T ENST00000394458.3 + 7 1660 c.1384C>T c.(1384-1386)Cag>Tag p.Q462* ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.Q436*|ANKLE1_ENST00000433424.2_Silent_p.L430L|ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.Q458*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.Q425* NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 462 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 CAGGGAGACTCAGGACCTGCC 0.567000 33 101 0 0 1 0 0 LRRC37A11P 0 broad.mit.edu 37 17 37186422 37186422 + RNA SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr17:37186422G>A ENST00000425901.2 + 0 264 NR_033753.2 TGTTAATAATGAGAACCCCTC 0.547000 10 66 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127821186 127821186 + Silent SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr2:127821186G>A ENST00000316724.5 - 9 1146 c.735C>T c.(733-735)atC>atT p.I245I BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000259238.4_Silent_p.I214I|BIN1_ENST00000352848.3_Silent_p.I214I|BIN1_ENST00000376113.2_Silent_p.I214I|BIN1_ENST00000409400.1_Silent_p.I214I|BIN1_ENST00000393041.3_Silent_p.I214I|BIN1_ENST00000346226.3_Silent_p.I214I|BIN1_ENST00000357970.3_Silent_p.I245I|BIN1_ENST00000348750.4_Silent_p.I214I|BIN1_ENST00000393040.3_Silent_p.I214I|BIN1_ENST00000351659.3_Silent_p.I245I NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 245 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CCAGGCCCGCGATGCTCTGGA 0.597000 7 21 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121437783 121437783 + Nonsense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr11:121437783C>T ENST00000260197.7 + 22 3313 c.3184C>T c.(3184-3186)Cag>Tag p.Q1062* SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q6* NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1062 EGF-like. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGACTGCCCTCAGGGCTATCA 0.527000 7 32 0 0 1 0 0 CGRRF1 10668 broad.mit.edu 37 14 54976644 54976644 + Translation_Start_Site SNP G G A rs75987656 byFrequency TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr14:54976644G>A ENST00000216420.7 + 0 99 NM_006568.2 NP_006559.1 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1) 13 gggctccgcggctggagccgg 0.622000 OREG0022692 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 58 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33014319 33014319 + Silent SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr7:33014319C>T ENST00000242209.4 + 2 481 c.312C>T c.(310-312)aaC>aaT p.N104N FKBP9_ENST00000538336.1_Silent_p.N157N|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 104 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.N104K(1) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) TGTGCGTAAACGAGAGACGTT 0.468000 22 99 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 10 54 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 49042492 49042492 + Missense_Mutation SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr22:49042492G>A ENST00000358295.5 + 2 350 c.175G>A c.(175-177)Gcc>Acc p.A59T FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A66T NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 66 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) CCGGCAGACCGCCCGCTGTGC 0.697000 6 11 0 0 1 0 0 C16orf82 0 broad.mit.edu 37 16 27078386 27078386 + RNA SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr16:27078386G>A ENST00000505035.1 + 0 359 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN TGTCCAGAATGAGCAGGAAGG 0.587000 7 24 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35551536 35551536 + Missense_Mutation SNP A A G TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr19:35551536A>G ENST00000262626.2 + 9 1451 c.626A>G c.(625-627)aAc>aGc p.N209S HPN_ENST00000597419.1_Missense_Mutation_p.N51S|HPN_ENST00000392226.1_Missense_Mutation_p.N209S|HPN-AS1_ENST00000392227.2_RNA NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 209 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GGTAGGCGGAACCGGGTCCTG 0.692000 14 38 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43907507 43907507 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr17:43907507C>T ENST00000314537.5 + 6 707 c.482C>T c.(481-483)gCc>gTc p.A161V CRHR1_ENST00000398285.3_Missense_Mutation_p.A190V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A161V|CRHR1_ENST00000339069.5_Missense_Mutation_p.A60V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A121V|CRHR1_ENST00000293493.7_5'UTR NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 190 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CTCATCTCCGCCTTCATCCTG 0.627000 15 84 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133760038 133760038 + Silent SNP G G A TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr9:133760038G>A ENST00000318560.5 + 11 2742 c.2361G>A c.(2359-2361)gtG>gtA p.V787V NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 787 Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCAGGCTGGTGAAAAAGAATG 0.612000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 22 27 0 0 1 0 0 AP5B1 91056 broad.mit.edu 37 11 65546685 65546685 + Missense_Mutation SNP C C T TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr11:65546685C>T ENST00000532090.2 - 2 1489 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 370 protein binding lung(1) 1 TCCTCTTCTTCCTCCTCGGCA 0.667000 7 28 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30885522 30885522 + Frame_Shift_Del DEL C C - TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr6:30885522delC ENST00000321897.5 + 9 1556 c.924delC c.(922-924)tgfs p.C308fs VARS2_ENST00000541562.1_Frame_Shift_Del_p.C338fs|VARS2_ENST00000416670.2_Frame_Shift_Del_p.C308fs|VARS2_ENST00000542001.1_Frame_Shift_Del_p.C168fs Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 308 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 TGCCTGGCTGCCCCACCCCCG 0.612 2 4 --- --- --- --- MROH6 642475 broad.mit.edu 37 8 144650732 144650733 + Frame_Shift_Ins INS - - CC TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr8:144650732_144650733insCC ENST00000398882.3 - 10 1889_1890 c.1633_1634insGG c.(1633-1635)cgcfs p.R545fs MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 CTCAGCAGCGTCCCTGCTGGGG 0.698 2 4 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 7 75 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138376 20138376 + RNA DEL G G - rs57620493 TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr14:20138376delG ENST00000548261.1 + 0 391 ACAaaagaaagaaagaaagaa 0.388 4 4 --- --- --- --- TECPR2 9895 broad.mit.edu 37 14 102931589 102931591 + In_Frame_Del DEL TGC TGC - TCGA-J8-A4HY-01A-11D-A257-08 TCGA-J8-A4HY-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bca1d60-fb12-4191-aa19-883e5bd99996 b4f5c022-fbdd-4a29-b01b-0141efcf8dba g.chr14:102931589_102931591delTGC ENST00000359520.7 + 17 3978_3980 c.3752_3754delTGC c.(3751-3756)att>a p.ML1251del TECPR2_ENST00000558678.1_In_Frame_Del_p.ML1251del NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1251 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CCCAGTCTCATGCTTCCAGCCTG 0.502 10 54 --- --- --- ---