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 GPR157 80045 broad.mit.edu 37 1 9171452 9171452 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:9171452G>A ENST00000377411.4 - 2 622 c.480C>T c.(478-480)gaC>gaT p.D160D GPR157_ENST00000414642.2_Silent_p.D160D NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 160 integral to membrane|plasma membrane G-protein coupled receptor activity p.D160D(1) lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) TGGCCTCCAGGTCGATCCAGC 0.617 OREG0013073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 68 --- --- --- --- TCEB3 6924 broad.mit.edu 37 1 24080617 24080617 + Missense_Mutation SNP A A C rs144826294 byFrequency TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:24080617A>C ENST00000418390.2 + 6 1914 c.1643A>C c.(1642-1644)gAa>gCa p.E548A TCEB3_ENST00000609199.1_Missense_Mutation_p.E522A NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 548 Activation domain (By similarity). positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding p.E522A(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GAAGAAGAAGAAGCTGGATTT 0.478 5 189 --- --- --- --- ETV3 2117 broad.mit.edu 37 1 157104014 157104014 + Missense_Mutation SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:157104014T>C ENST00000368192.4 - 4 354 c.290A>G c.(289-291)tAt>tGt p.Y97C ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 97 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Y97C(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) CTTGTTGTAATAGTATCTGTA 0.368 9 90 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181727100 181727100 + Silent SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:181727100C>T ENST00000526775.1 + 30 4455 c.4290C>T c.(4288-4290)ttC>ttT p.F1430F CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000357570.5_Silent_p.F1400F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1449 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.F1449F(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCATCGACTTCGCCATCAGCG 0.522 14 122 --- --- --- --- WDR64 128025 broad.mit.edu 37 1 241946665 241946665 + Missense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:241946665C>G ENST00000366552.2 + 22 2864 c.2657C>G c.(2656-2658)tCc>tGc p.S886C WDR64_ENST00000437684.2_Missense_Mutation_p.S719C NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 886 p.S886C(1)|p.S439C(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTTACTGCCTCCATCGATGGC 0.393 4 82 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20458017 20458017 + Missense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:20458017G>T ENST00000361078.2 - 15 2493 c.2471C>A c.(2470-2472)tCt>tAt p.S824Y PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 824 PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding p.S824Y(1) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGTCAGAAGAAATAGATTC 0.328 20 57 --- --- --- --- CNTNAP5 129684 broad.mit.edu 37 2 125521376 125521376 + Splice_Site SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:125521376C>T ENST00000431078.1 + 15 2723 c.2359C>T c.(2359-2361)Cga>Tga p.R787* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 787 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.R787*(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CTATGGTGACCGTGAGTACAA 0.458 11 56 --- --- --- --- IL17RC 84818 broad.mit.edu 37 3 9969889 9969889 + Missense_Mutation SNP T T A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr3:9969889T>A ENST00000295981.3 + 10 1293 c.1075T>A c.(1075-1077)Tgc>Agc p.C359S IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000498214.1_3'UTR NM_153461.3 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 359 integral to membrane|plasma membrane receptor activity p.C359S(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GACGAACATCTGCCCCTTCAG 0.637 12 166 --- --- --- --- CCDC174 51244 broad.mit.edu 37 3 14703060 14703060 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr3:14703060C>T ENST00000383794.3 + 5 404 c.331C>T c.(331-333)Ctt>Ttt p.L111F CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F NM_016474.4 NP_057558.3 coiled-coil domain containing 174 p.L111F(1) GGATATGTACCTTGTGGATTT 0.408 5 180 --- --- --- --- MORC1 27136 broad.mit.edu 37 3 108818255 108818255 + Missense_Mutation SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr3:108818255T>C ENST00000232603.5 - 6 455 c.373A>G c.(373-375)Acc>Gcc p.T125A MORC1_ENST00000483760.1_Missense_Mutation_p.T125A NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 125 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.T125A(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AACACACAGGTCATCGTTTCT 0.343 12 115 --- --- --- --- MB21D2 151963 broad.mit.edu 37 3 192517393 192517393 + Nonsense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr3:192517393G>T ENST00000392452.2 - 2 578 c.258C>A c.(256-258)taC>taA p.Y86* NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 86 p.Y84*(1)|p.Y86*(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 AGAGCAACAGGTATTCATTAG 0.453 9 59 --- --- --- --- CDH18 1016 broad.mit.edu 37 5 19503127 19503127 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:19503127G>A ENST00000507958.1 - 13 2594 c.1604C>T c.(1603-1605)cCa>cTa p.P535L CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L Q13634 CAD18_HUMAN cadherin 18, type 2 535 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P535L(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGTGAAGTTTGGATTTACAGG 0.348 13 121 --- --- --- --- HSPB3 8988 broad.mit.edu 37 5 53752034 53752034 + Silent SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:53752034T>C ENST00000302005.1 + 1 590 c.415T>C c.(415-417)Ttg>Ctg p.L139L NM_006308.2 NP_006299.1 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 139 cell death|response to heat|response to unfolded protein cytoplasm|nucleus p.L139L(2) breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) TGATGGAATTTTGGTGGTGGA 0.458 5 204 --- --- --- --- ANKRD55 79722 broad.mit.edu 37 5 55472069 55472069 + Silent SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:55472069C>T ENST00000341048.4 - 4 373 c.222G>A c.(220-222)gcG>gcA p.A74A ANKRD55_ENST00000504958.2_Silent_p.A74A|ANKRD55_ENST00000513241.2_Silent_p.A45A NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 73 p.A74A(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TCACTGTGTCCGCTTGACGTC 0.493 5 206 --- --- --- --- PCDHA11 56138 broad.mit.edu 37 5 140250899 140250899 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:140250899G>A ENST00000398640.2 + 1 2211 c.2211G>A c.(2209-2211)acG>acA p.T737T PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018902.3 NP_061725.1 p.T737T(1) breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGCCCACGCTGGTGTGCT 0.687 4 29 --- --- --- --- PCDHB12 56124 broad.mit.edu 37 5 140588556 140588556 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:140588556C>T ENST00000239450.2 + 1 266 c.77C>T c.(76-78)gCg>gTg p.A26V PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 26 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A26V(2) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGTCTCAGGCGGGCTCTGAA 0.498 4 142 --- --- --- --- PCDHGA10 56106 broad.mit.edu 37 5 140794640 140794640 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:140794640C>T ENST00000398610.2 + 1 1898 c.1898C>T c.(1897-1899)gCg>gTg p.A633V PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 p.A633V(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCGCACGGCGCGAGCCCTG 0.692 29 59 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32021196 32021196 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr6:32021196G>A ENST00000375244.3 - 25 8961 c.8760C>T c.(8758-8760)cgC>cgT p.R2920R TNXB_ENST00000375247.2_Silent_p.R2918R P22105 TENX_HUMAN tenascin XB 2967 Fibronectin type-III 21. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.R2996R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGGGGCCCACGCGCTGGCCAC 0.632 5 15 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90382073 90382073 + Missense_Mutation SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr6:90382073T>C ENST00000369393.3 - 82 13755 c.13640A>G c.(13639-13641)gAg>gGg p.E4547G MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G|MDN1_ENST00000468568.1_5'UTR Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4547 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.E4547G(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTGCAGTCTCTCAAAGCCTGC 0.398 3 139 --- --- --- --- KLHL7 55975 broad.mit.edu 37 7 23164685 23164685 + Missense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr7:23164685C>G ENST00000339077.5 + 4 579 c.336C>G c.(334-336)aaC>aaG p.N112K KLHL7_ENST00000322231.7_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000479288.1_Intron NM_001031710.2 NP_001026880.2 Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 Golgi apparatus|nucleolus|plasma membrane p.N90K(1)|p.N112K(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGAATAGCAACAATGTTCAGT 0.328 8 97 --- --- --- --- KIAA0895 23366 broad.mit.edu 37 7 36423479 36423479 + Missense_Mutation SNP A A G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr7:36423479A>G ENST00000297063.6 - 2 217 c.167T>C c.(166-168)tTc>tCc p.F56S NM_001100425.1 NP_001093895.1 Q8NCT3 K0895_HUMAN KIAA0895 56 p.F56S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TGAGGTAGAGAACTTGAGTTT 0.358 6 78 --- --- --- --- NKX3-1 4824 broad.mit.edu 37 8 23538928 23538928 + Missense_Mutation SNP A A G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr8:23538928A>G ENST00000380871.4 - 2 548 c.511T>C c.(511-513)Tgg>Cgg p.W171R NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 171 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding p.W171R(1) large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) TTCTGGAACCATATCTTCACT 0.562 15 248 --- --- --- --- RAD21 5885 broad.mit.edu 37 8 117878924 117878924 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr8:117878924G>A ENST00000297338.2 - 2 332 c.45C>T c.(43-45)gcC>gcT p.A15A RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 15 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding p.A15A(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) GCCAAATTTTGGCCAGAGGCC 0.433 3 85 --- --- --- --- FCN1 2219 broad.mit.edu 37 9 137803057 137803057 + Missense_Mutation SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr9:137803057T>C ENST00000371806.3 - 8 746 c.655A>G c.(655-657)Aag>Gag p.K219E NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 219 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding p.K219E(1) endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GATTTGTACTTAGCAAACTGG 0.527 10 434 --- --- --- --- LHX3 8022 broad.mit.edu 37 9 139090531 139090531 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr9:139090531C>T ENST00000371746.3 - 5 875 c.757G>A c.(757-759)Ggg>Agg p.G253R LHX3_ENST00000371748.5_Missense_Mutation_p.G248R NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 248 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G253R(1) large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) CTGTCCTGCCCCTCCTGAACG 0.711 9 15 --- --- --- --- NELL1 4745 broad.mit.edu 37 11 21596534 21596534 + Missense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr11:21596534G>T ENST00000298925.5 + 21 2636 c.2483G>T c.(2482-2484)tGt>tTt p.C828F NELL1_ENST00000357134.5_Missense_Mutation_p.C800F|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F Q92832 NELL1_HUMAN NEL-like 1 (chicken) 800 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.C800F(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGAGTCTGTTGTTCTGTGGAT 0.358 3 87 --- --- --- --- MADD 8567 broad.mit.edu 37 11 47345221 47345221 + Splice_Site SNP G G C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr11:47345221G>C ENST00000342922.4 + 28 4557 c.e28-1 MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000402192.2_Splice_Site NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity p.?(2) breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CACTTCTCCAGGTGTGCGATG 0.542 3 97 --- --- --- --- OR5AS1 219447 broad.mit.edu 37 11 55798258 55798258 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr11:55798258C>T ENST00000313555.1 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 122 R -> L (in dbSNP:rs12224086). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(3) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GGCTTATGACCGCTATGCAGC 0.458 11 127 --- --- --- --- SPDYC 387778 broad.mit.edu 37 11 64939787 64939787 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr11:64939787G>A ENST00000377185.2 + 4 411 c.329G>A c.(328-330)aGc>aAc p.S110N NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 110 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding p.S110N(1) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 ACCCACAGCAGCCTGTTCTTG 0.612 10 113 --- --- --- --- PXN 5829 broad.mit.edu 37 12 120657110 120657110 + Translation_Start_Site SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr12:120657110G>A ENST00000397506.3 - 0 71 PXN_ENST00000424649.2_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000228307.7_Intron|PXN_ENST00000538144.1_Intron P49023 PAXI_HUMAN paxillin cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCAGCTTCCGTGGTGCCCTC 0.622 4 121 --- --- --- --- FNDC3A 22862 broad.mit.edu 37 13 49776084 49776084 + Missense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr13:49776084G>T ENST00000492622.2 + 24 3441 c.3136G>T c.(3136-3138)Gtc>Ttc p.V1046F FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1046 Golgi membrane|integral to membrane p.V1046F(1) endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TCCAAAATCTGTCCCAGCTGC 0.318 7 167 --- --- --- --- AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T rs34409589 TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr14:105246551C>T ENST00000554581.1 - 2 1529 c.49G>A c.(49-51)Gag>Aag p.E17K AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(102) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612 E17K(KU1919_URINARY_TRACT) 1 Mis """breast, colorectal, ovarian, NSCLC""" 7 19 --- --- --- --- NUTM1 256646 broad.mit.edu 37 15 34649647 34649647 + Silent SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr15:34649647C>T ENST00000537011.1 + 8 3820 c.3438C>T c.(3436-3438)gaC>gaT p.D1146D NUTM1_ENST00000438749.3_Silent_p.D1136D|NUTM1_ENST00000333756.4_Silent_p.D1118D NM_001284292.1 NP_001271221.1 NUT midline carcinoma, family member 1 p.D1118D(1) GGCGGTGTGACAGTTTTGTCA 0.582 65 87 --- --- --- --- ALDH1A3 220 broad.mit.edu 37 15 101425511 101425511 + Missense_Mutation SNP A A G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr15:101425511A>G ENST00000329841.5 + 2 671 c.139A>G c.(139-141)Aaa>Gaa p.K47E ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E|ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 47 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity p.K47E(2) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) CAAGAGTGGGAAAAAGTTTGC 0.333 33 88 --- --- --- --- RBFOX1 54715 broad.mit.edu 37 16 7568237 7568237 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr16:7568237C>T ENST00000340209.4 + 2 428 c.131C>T c.(130-132)gCg>gTg p.A44V RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 39 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.A59V(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GGTATCCCCGCGGAATACACG 0.612 22 199 --- --- --- --- TVP23C 201158 broad.mit.edu 37 17 15441443 15441443 + Nonstop_Mutation SNP A A G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr17:15441443A>G ENST00000584811.1 - 7 1839 c.424T>C c.(424-426)Tga>Cga p.*142R TVP23C_ENST00000438826.3_Nonstop_Mutation_p.*206R|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Nonstop_Mutation_p.*206R|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TTCTCTATTCAGGAAGTCTGA 0.418 9 120 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54646887 54646887 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr19:54646887G>A ENST00000406403.1 + 2 1661 c.58G>A c.(58-60)Gag>Aag p.E20K CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 20 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.E20K(6) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAAGGTGTCCGAGGGCGTGGA 0.557 19 241 --- --- --- --- AIFM3 150209 broad.mit.edu 37 22 21330001 21330001 + Missense_Mutation SNP G G T rs143272206 TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr22:21330001G>T ENST00000399167.2 + 9 981 c.741G>T c.(739-741)gaG>gaT p.E247D AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D|AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 p.E247D(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CACAGCCTGAGCAGCTGGCCC 0.632 11 129 --- --- --- --- RPS6KA6 27330 broad.mit.edu 37 X 83411185 83411185 + Silent SNP A A T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrX:83411185A>T ENST00000262752.2 - 3 163 c.156T>A c.(154-156)gtT>gtA p.V52V RPS6KA6_ENST00000543399.1_Silent_p.V52V NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 52 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.V52V(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GGATTTCTTTAACAACTCCTT 0.353 5 39 --- --- --- --- STK26 51765 broad.mit.edu 37 X 131207114 131207114 + Missense_Mutation SNP T T A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrX:131207114T>A ENST00000394334.2 + 11 1472 c.1219T>A c.(1219-1221)Ttt>Att p.F407I MST4_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I|MST4_ENST00000354719.6_Missense_Mutation_p.F383I|MST4_ENST00000496850.1_Missense_Mutation_p.F345I NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 407 cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity p.F407I(1) endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) AATTGAAAAATTTCAAAAGTA 0.343 3 66 --- --- --- --- MT-ND4 4538 broad.mit.edu 37 M 11775 11775 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrM:11775G>A ENST00000361381.2 + 1 1016 c.1016G>A c.(1015-1017)aGt>aAt p.S339N mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 ACGCACTCACAGTCGCATCAT 0.493 3 5 --- --- --- ---