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 ASTN1 460 broad.mit.edu 37 1 176857323 176857323 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:176857323G>T ENST00000367654.2 - 18 2995 c.2982C>A c.(2980-2982)acC>acA p.T994T ASTN1_ENST00000361833.2_Silent_p.T986T|ASTN1_ENST00000424564.2_Silent_p.T986T|ASTN1_ENST00000367657.3_Silent_p.T986T O14525 ASTN1_HUMAN astrotactin 1 994 cell migration|neuron cell-cell adhesion integral to membrane p.T986T(2) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GAGAGCTCATGGTAGCCTCCT 0.537000 27 69 2.49675e-24 3.98417e-24 0.007291 1 0 HTR5A 3361 broad.mit.edu 37 7 154875952 154875952 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:154875952G>A ENST00000287907.2 + 2 1405 c.829G>A c.(829-831)Gag>Aag p.E277K HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 277 integral to plasma membrane serotonin receptor activity p.E277K(2) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CACGTGGCGGGAGCAGAAGGA 0.607000 43 55 0 0 0.014410 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221181 140221181 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:140221181G>A ENST00000531613.1 + 1 275 c.275G>A c.(274-276)cGc>cAc p.R92H PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R92H|PCDHA6_ENST00000529310.1_Intron NM_018911.2 NP_061734.1 p.R92H(4) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGATCGACCGCGAGGAGCTG 0.602000 115 373 0 0 0.014410 0 0 STAP2 55620 broad.mit.edu 37 19 4327149 4327149 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:4327149C>A ENST00000600324.1 - 8 802 c.735G>T c.(733-735)ctG>ctT p.L245L STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Silent_p.L245L NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 245 SH2. cytoplasm|nucleus protein binding p.L245L(2) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCGTCTAACAGGAATGGCA 0.647000 26 86 9.04412e-07 1.03559e-06 0.004656 1 0 GLYATL1 92292 broad.mit.edu 37 11 58711127 58711127 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:58711127C>A ENST00000300079.5 + 2 186 c.136C>A c.(136-138)Ctg>Atg p.L46M RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 0 mitochondrion glycine N-acyltransferase activity p.L46M(2)|p.L46L(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) ctcagagtggctgaggataat 0.488000 18 28 2.4624e-09 3.00292e-09 0.008871 1 0 LILRB1 10859 broad.mit.edu 37 19 55144063 55144063 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:55144063C>T ENST00000396331.1 + 7 1167 c.810C>T c.(808-810)ggC>ggT p.G270G LILRB1_ENST00000396315.1_Silent_p.G270G|LILRB1_ENST00000324602.7_Silent_p.G270G|LILRB1_ENST00000396317.1_Silent_p.G270G|LILRB1_ENST00000448689.1_Silent_p.G270G|LILRB1_ENST00000396327.3_Silent_p.G270G|LILRB1_ENST00000427581.2_Silent_p.G306G|LILRB1_ENST00000434867.2_Silent_p.G270G|LILRB1_ENST00000418536.2_Silent_p.G270G|LILRB1_ENST00000396321.2_Silent_p.G270G|LILRB1_ENST00000396332.4_Silent_p.G270G NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 270 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.G270G(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGCTCGCTGGCGCACAGCCCC 0.607000 HNSCC(37;0.09) 87 167 0 0 0.014410 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123489404 123489404 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:123489404G>T ENST00000529750.1 + 18 2232 c.1905G>T c.(1903-1905)ctG>ctT p.L635L GRAMD1B_ENST00000456860.2_Silent_p.L642L|GRAMD1B_ENST00000450171.2_Silent_p.L322L|GRAMD1B_ENST00000322282.7_Silent_p.L635L NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 635 integral to membrane p.L635L(4) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TTCCTAGTCTGGTGCTGCTGG 0.547000 3 1 0.004672 0.00486667 0.004672 1 0 RARS 5917 broad.mit.edu 37 5 167933091 167933091 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:167933091A>G ENST00000231572.3 + 10 1177 c.1123A>G c.(1123-1125)Ata>Gta p.I375V RARS_ENST00000538719.1_Missense_Mutation_p.I169V NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 375 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding p.I375V(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) ACCATTAACCATAGTAAAATC 0.358000 44 113 0 0 0.013114 0 0 TMEM63B 55362 broad.mit.edu 37 6 44119729 44119729 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr6:44119729G>T ENST00000259746.9 + 19 2003 c.1820G>T c.(1819-1821)aGg>aTg p.R607M TMEM63B_ENST00000323267.6_Missense_Mutation_p.R607M Q5T3F8 TM63B_HUMAN transmembrane protein 63B 607 integral to membrane nucleotide binding|protein binding p.R607M(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) GCCGCCGAGAGGCGCAACGTG 0.672000 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 14 1.39806e-14 1.95989e-14 0.008361 1 0 LRGUK 136332 broad.mit.edu 37 7 133812255 133812255 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:133812255C>T ENST00000285928.2 + 1 204 c.135C>T c.(133-135)ccC>ccT p.P45P LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 45 ATP binding|kinase activity p.P45P(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GGTCTTTTCCCATGGGGCAGA 0.577000 78 167 0 0 0.014410 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256557 140256557 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:140256557C>A ENST00000398631.2 + 1 1500 c.1500C>A c.(1498-1500)ggC>ggA p.G500G PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 p.G500G(2) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGGTGGGCGAGCACGCAC 0.677000 57 97 5.86059e-21 8.97029e-21 0.014410 1 0 LINC01317 104355287 broad.mit.edu 37 2 33952372 33952372 + RNA SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:33952372G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA p.I157I(1) TGGGGAAGCGGATGGGCAGCA 0.632000 14 27 0 0 0.016723 0 0 CCDC116 164592 broad.mit.edu 37 22 21991045 21991045 + Nonsense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr22:21991045C>T ENST00000292779.3 + 5 1689 c.1528C>T c.(1528-1530)Cag>Tag p.Q510* NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 510 p.Q510*(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) AAGGGCCCGGCAGGCCTCCCG 0.642000 91 149 0 0 0.014410 0 0 EPHA6 285220 broad.mit.edu 37 3 96963011 96963011 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr3:96963011G>T ENST00000389672.5 + 5 1524 c.1486G>T c.(1486-1488)Gta>Tta p.V496L EPHA6_ENST00000470610.2_Missense_Mutation_p.V496L NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 401 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity p.V402L(4)|p.V496L(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TTCCGTGATAGTACTTGACTT 0.443000 14 29 0.000151284 0.000162091 0.016723 1 0 TECTA 7007 broad.mit.edu 37 11 120989078 120989078 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:120989078G>T ENST00000392793.1 + 7 1125 c.854G>T c.(853-855)tGt>tTt p.C285F TECTA_ENST00000264037.2_Missense_Mutation_p.C285F O75443 TECTA_HUMAN tectorin alpha 285 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.C285F(2) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AAGTGCCGCTGTCTGGATTTC 0.512000 54 78 3.21867e-24 5.08212e-24 0.014410 1 0 HSD11B1 3290 broad.mit.edu 37 1 209878375 209878375 + Splice_Site SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:209878375G>T ENST00000367028.2 + 2 257 c.88_splice c.e2+1 p.E30_splice RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Splice_Site_p.E30_splice|HSD11B1_ENST00000261465.1_Splice_Site_p.E30_splice NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 30 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding p.?(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) ATTCAGACCAGGTAAGTACCC 0.448000 28 79 1.88708e-17 2.77512e-17 0.008361 1 0 SH2B1 25970 broad.mit.edu 37 16 28877650 28877650 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:28877650G>A ENST00000337120.5 + 1 3526 c.235G>A c.(235-237)Gag>Aag p.E79K SH2B1_ENST00000322610.8_Missense_Mutation_p.E79K|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.E79K|SH2B1_ENST00000359285.5_Missense_Mutation_p.E79K|SH2B1_ENST00000538342.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 79 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for self-association. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity p.E79K(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CTTTGAAGCCGAGGTGGCCCG 0.667000 5 49 0 0 0.001984 0 0 TMTC2 160335 broad.mit.edu 37 12 83251161 83251161 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:83251161G>T ENST00000549919.1 + 3 2243 c.438G>T c.(436-438)ttG>ttT p.L146F TMTC2_ENST00000321196.3_Missense_Mutation_p.L152F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L152F Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 152 endoplasmic reticulum|integral to membrane binding p.L152F(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 TCCTCTCCTTGCTCTGCTACA 0.557000 21 46 4.7796e-09 5.78178e-09 0.004656 1 0 C8orf47 203111 broad.mit.edu 37 8 99102146 99102146 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:99102146C>T ENST00000318528.3 + 2 1260 c.901C>T c.(901-903)Cct>Tct p.P301S C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 301 Glu-rich. p.P301S(2) kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GCAGATTCAACCTGAAGGAAT 0.438000 47 87 0 0 0.014410 0 0 RP1L1 94137 broad.mit.edu 37 8 10467287 10467287 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:10467287G>T ENST00000382483.3 - 4 4544 c.4321C>A c.(4321-4323)Ccg>Acg p.P1441T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1441 intracellular signal transduction p.P1441T(2) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCGGGGCACGGCTCTGCAGAG 0.627000 250 481 5.97512e-100 1.07984e-99 0.014410 1 0 USH2A 7399 broad.mit.edu 37 1 216074227 216074227 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:216074227G>A ENST00000366943.2 - 39 7707 c.7321C>T c.(7321-7323)Ccc>Tcc p.P2441S USH2A_ENST00000307340.3_Missense_Mutation_p.P2441S|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2441 Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.P2441S(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAAAGCCTGGGAGGCAGCACG 0.493000 HNSCC(13;0.011) 19 38 0 0 0.006122 0 0 PAQR8 85315 broad.mit.edu 37 6 52268034 52268034 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr6:52268034G>A ENST00000442253.2 + 2 197 c.23G>A c.(22-24)cGc>cAc p.R8H PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 8 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding p.R8H(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) ATCTTGGAGCGCCTGAGCACC 0.622000 10 49 0 0 0.013537 0 0 PEX5L 51555 broad.mit.edu 37 3 179519752 179519752 + Missense_Mutation SNP G G C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr3:179519752G>C ENST00000467460.1 - 15 2075 c.1745C>G c.(1744-1746)cCt>cGt p.P582R PEX5L_ENST00000485199.1_Missense_Mutation_p.P547R|PEX5L_ENST00000476138.1_Missense_Mutation_p.P539R|PEX5L_ENST00000472994.1_Missense_Mutation_p.P523R|PEX5L_ENST00000468741.1_Missense_Mutation_p.P390R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.P580R|PEX5L_ENST00000465751.1_Missense_Mutation_p.P558R|PEX5L_ENST00000464614.1_Missense_Mutation_p.P474R|PEX5L_ENST00000392649.3_Missense_Mutation_p.P474R NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 582 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding p.P582R(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TGCAGGATGAGGAACTTGCTG 0.463000 76 189 0 0 0.014410 0 0 UBE3D 90025 broad.mit.edu 37 6 83775392 83775392 + Nonsense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr6:83775392C>A ENST00000369747.3 - 1 168 c.46G>T c.(46-48)Gga>Tga p.G16* UBE3D_ENST00000369745.5_Nonsense_Mutation_p.G16* NM_198920.1 NP_944602.1 Q7Z6J8 UB2CB_HUMAN ubiquitin protein ligase E3D 16 cytoplasm ligase activity p.G16*(1) TGCAGCTGTCCCCGCACCTCC 0.672000 OREG0017550 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 16 7.93312e-07 9.1536e-07 0.020292 1 0 PAF1 54623 broad.mit.edu 37 19 39879075 39879075 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:39879075C>A ENST00000221265.3 - 11 1220 c.890G>T c.(889-891)tGg>tTg p.W297L PAF1_ENST00000595564.1_Missense_Mutation_p.W287L|PAF1_ENST00000221266.7_Missense_Mutation_p.W264L NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 297 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding p.W297L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CTTCACGTTCCAGTTGTACTC 0.478000 87 196 4.3955e-51 7.57845e-51 0.014410 1 0 SNTG1 54212 broad.mit.edu 37 8 51617264 51617264 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:51617264G>T ENST00000522124.1 + 16 1804 c.1143G>T c.(1141-1143)tgG>tgT p.W381C SNTG1_ENST00000518864.1_Missense_Mutation_p.W381C|SNTG1_ENST00000517473.1_Missense_Mutation_p.W381C|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381C NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 381 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.W381F(4) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCGCCCAGTGGGAAAGAGCCT 0.557000 17 54 4.14922e-12 5.41202e-12 0.004007 1 0 EMR3 84658 broad.mit.edu 37 19 14758015 14758015 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:14758015G>A ENST00000253673.5 - 8 960 c.860C>T c.(859-861)aCg>aTg p.T287M EMR3_ENST00000443157.2_Missense_Mutation_p.T161M|EMR3_ENST00000344373.4_Missense_Mutation_p.T235M|EMR3_ENST00000599900.1_Missense_Mutation_p.T72M NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 287 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 GAAAGTCAGCGTCACAGACTT 0.483000 16 479 0 0 0.004007 0 0 LPPR4 9890 broad.mit.edu 37 1 99772407 99772407 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:99772407C>A ENST00000370185.3 + 7 2630 c.2133C>A c.(2131-2133)agC>agA p.S711R LPPR4_ENST00000457765.1_Missense_Mutation_p.S653R|LPPR4_ENST00000370184.1_Missense_Mutation_p.S553R NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 711 phosphatidate phosphatase activity p.S711R(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TAGAGGGCAGCGAAATTGGCT 0.522000 16 38 6.72482e-11 8.69589e-11 0.003163 1 0 HOXA11 3207 broad.mit.edu 37 7 27222458 27222458 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:27222458T>A ENST00000006015.3 - 2 970 c.899A>T c.(898-900)aAc>aTc p.N300I NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 300 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.N300L(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 ACGGTCTCTGTTAATTTTTTT 0.448000 T NUP98 CML 51 167 0 0 0.014410 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759333 121759333 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:121759333C>A ENST00000261367.7 + 6 2470 c.1042C>A c.(1042-1044)Cta>Ata p.L348I SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L301I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L301I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 301 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding p.L348I(4)|p.L301I(2) NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GGTCAGTGGCCTAAACCGGAC 0.483000 43 89 1.00953e-15 1.47019e-15 0.013114 1 0 DLGAP3 58512 broad.mit.edu 37 1 35369906 35369906 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:35369906G>A ENST00000373347.1 - 3 1347 c.1079C>T c.(1078-1080)gCc>gTc p.A360V DLGAP3_ENST00000235180.4_Missense_Mutation_p.A360V O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 360 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.A360V(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CCTGGCTTTGGCCTTGGTCTC 0.592000 71 154 0 0 0.014410 0 0 CTNND1 1500 broad.mit.edu 37 11 57569381 57569381 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:57569381G>T ENST00000524630.1 + 7 1646 c.1133G>T c.(1132-1134)cGc>cTc p.R378L CTNND1_ENST00000527467.1_Missense_Mutation_p.R55L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R378L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R324L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R277L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R378L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R324L|CTNND1_ENST00000428599.2_Missense_Mutation_p.R378L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R277L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526772.1_Missense_Mutation_p.R55L|CTNND1_ENST00000525902.1_Missense_Mutation_p.R55L|CTNND1_ENST00000361391.6_Missense_Mutation_p.R378L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R277L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R277L|CTNND1_ENST00000399050.4_Missense_Mutation_p.R378L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R277L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R277L|CTNND1_ENST00000533667.1_Missense_Mutation_p.R55L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532245.1_Missense_Mutation_p.R277L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526357.1_Missense_Mutation_p.R324L|CTNND1_ENST00000361332.4_Missense_Mutation_p.R378L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R324L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R378L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R378L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R378L|CTNND1_ENST00000415361.2_Missense_Mutation_p.R277L|CTNND1_ENST00000531014.1_Missense_Mutation_p.R55L|CTNND1_ENST00000361796.4_Missense_Mutation_p.R378L O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 378 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding p.R378L(4) breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CTTGGATTCCGCTTGGATGCT 0.542000 40 121 2.35958e-20 3.57513e-20 0.009718 1 0 TRPM8 79054 broad.mit.edu 37 2 234835266 234835266 + Silent SNP G G A rs149381224 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:234835266G>A ENST00000324695.4 + 2 124 c.84G>A c.(82-84)gcG>gcA p.A28A TRPM8_ENST00000433712.2_5'UTR NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 28 integral to membrane p.A28A(2) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ACTCCAGCGCGTCTCGGAGCA 0.512000 29 63 0 0 0.005443 0 0 PRR5 55615 broad.mit.edu 37 22 45075718 45075718 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr22:45075718C>T ENST00000403581.1 + 2 648 c.39C>T c.(37-39)ggC>ggT p.G13G NM_001198721.1 NP_001185650.1 proline rich 5 (renal) p.G13G(1) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) AAGCCTGGGGCTCGGGAAGCC 0.612000 10 14 0 0 0.013537 0 0 SETBP1 26040 broad.mit.edu 37 18 42532619 42532619 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:42532619G>T ENST00000282030.5 + 4 3610 c.3314G>T c.(3313-3315)gGt>gTt p.G1105V NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1105 nucleus DNA binding p.G1105V(2)|p.G1051V(2) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGATGTCCGGTGCAGCTAAG 0.547000 Schinzel-Giedion syndrome 59 138 7.50695e-29 1.23741e-28 0.014410 1 0 SEMA6A 57556 broad.mit.edu 37 5 115782618 115782618 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:115782618G>T ENST00000343348.6 - 19 3571 c.2784C>A c.(2782-2784)agC>agA p.S928R SEMA6A_ENST00000513137.1_Missense_Mutation_p.S355R|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S928R|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S945R|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S307R|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S405R NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 928 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity p.S928R(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGGCCTGGTGGCTTCTCGTGA 0.557000 36 73 1.59361e-14 2.21335e-14 0.006999 1 0 OR1F2P 26184 broad.mit.edu 37 16 3266457 3266457 + RNA SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:3266457G>A ENST00000576468.1 + 0 418 GGTGACTCCCGTGATGAATCC 0.433000 5 18 0 0 0.003080 0 0 RPTN 126638 broad.mit.edu 37 1 152128367 152128367 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:152128367T>A ENST00000316073.3 - 3 1272 c.1208A>T c.(1207-1209)tAt>tTt p.Y403F NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 403 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.Y403F(2) breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGTCTGACCATAGTGAGAACT 0.507000 428 914 0 0 0.014410 0 0 MFRP 83552 broad.mit.edu 37 11 119217000 119217000 + Missense_Mutation SNP C C T rs143802236 byFrequency TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:119217000C>T ENST00000555262.1 - 2 298 c.139G>A c.(139-141)Gtc>Atc p.V47I MFRP_ENST00000449574.2_Missense_Mutation_p.V47I|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.V47I|MFRP_ENST00000529147.1_Intron|MFRP_ENST00000530681.1_Missense_Mutation_p.V47I NM_001278431.1 NP_001265360.1 membrane frizzled-related protein p.V47I(1) 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) GGAGCTGGGACGCTGTAGCTG 0.617000 12 34 0 0 0.013537 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193285 132193285 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:132193285C>A ENST00000359827.3 - 2 1130 c.168G>T c.(166-168)gtG>gtT p.V56V PLXNA4_ENST00000321063.4_Silent_p.V56V|PLXNA4_ENST00000378539.5_Silent_p.V56V|PLXNA4_ENST00000423507.2_Silent_p.V56V Q9HCM2 PLXA4_HUMAN plexin A4 56 Sema. integral to membrane|intracellular|plasma membrane p.V56V(8) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCCTCTCATCCACCACCAGGT 0.592000 39 91 1.47197e-15 2.12303e-15 0.007835 1 0 TRIM22 10346 broad.mit.edu 37 11 5730700 5730700 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:5730700C>T ENST00000379965.3 + 8 1596 c.1319C>T c.(1318-1320)cCc>cTc p.P440L TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 440 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.P440L(2) kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GCTGTGCCTCCCTGTCGTATT 0.438000 67 137 0 0 0.014410 0 0 SNTG1 54212 broad.mit.edu 37 8 51617263 51617263 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:51617263G>T ENST00000522124.1 + 16 1803 c.1142G>T c.(1141-1143)tGg>tTg p.W381L SNTG1_ENST00000518864.1_Missense_Mutation_p.W381L|SNTG1_ENST00000517473.1_Missense_Mutation_p.W381L|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381L NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 381 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.W381F(4) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CTCGCCCAGTGGGAAAGAGCC 0.552000 17 55 4.14922e-12 5.41202e-12 0.004007 1 0 DNHD1 144132 broad.mit.edu 37 11 6588836 6588836 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:6588836G>A ENST00000254579.6 + 36 12661 c.12097G>A c.(12097-12099)Gag>Aag p.E4033K DNHD1_ENST00000527990.2_Missense_Mutation_p.E4033K NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4033 microtubule-based movement dynein complex microtubule motor activity p.E4033K(2) NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCCAGGGCCTGAGCCACTCAG 0.642000 19 34 0 0 0.008871 0 0 C1orf173 127254 broad.mit.edu 37 1 75038095 75038095 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:75038095G>T ENST00000326665.5 - 14 3517 c.3299C>A c.(3298-3300)gCg>gAg p.A1100E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1100 Glu-rich. p.A1100E(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCCTTCTTCCGCTTTAAGTTT 0.443000 62 153 1.44317e-28 2.35299e-28 0.014410 1 0 THSD4 79875 broad.mit.edu 37 15 72037537 72037537 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:72037537G>A ENST00000355327.3 + 12 2133 c.1999G>A c.(1999-2001)Gag>Aag p.E667K THSD4_ENST00000357769.4_Missense_Mutation_p.E307K|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E667K Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 667 proteinaceous extracellular matrix metalloendopeptidase activity p.E667K(2) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GCCGACCCCCGAGGAGGAGCC 0.547000 187 399 0 0 0.014410 0 0 ZNF287 57336 broad.mit.edu 37 17 16470691 16470691 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr17:16470691C>T ENST00000395824.1 - 2 972 c.355G>A c.(355-357)Gaa>Aaa p.E119K ZNF287_ENST00000395825.3_Missense_Mutation_p.E119K Q9HBT7 ZN287_HUMAN zinc finger protein 287 112 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E112K(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) GTCACTGCTTCCTCGCTGCTC 0.507000 48 44 0 0 0.014410 0 0 SPATA13 221178 broad.mit.edu 37 13 24860373 24860373 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr13:24860373G>T ENST00000424834.2 + 8 2796 c.2323G>T c.(2323-2325)Gtc>Ttc p.V775F SPATA13_ENST00000409126.1_Missense_Mutation_p.V72F|SPATA13_ENST00000382095.4_Missense_Mutation_p.V150F|SPATA13_ENST00000399949.2_Missense_Mutation_p.V72F|SPATA13_ENST00000382108.3_Missense_Mutation_p.V775F|SPATA13_ENST00000343003.6_Missense_Mutation_p.V94F Q96N96 SPT13_HUMAN spermatogenesis associated 13 150 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity p.V150F(2)|p.V775F(2) breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGGCAACGTGGTCTGCGCAGA 0.582000 173 263 1.06226e-90 1.8969e-90 0.014410 1 0 KLRC2 3822 broad.mit.edu 37 12 10584778 10584778 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:10584778A>G ENST00000381902.2 - 5 517 c.511T>C c.(511-513)Tca>Cca p.S171P KLRC2_ENST00000536833.2_Missense_Mutation_p.S112P|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.S171P NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 171 C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity p.S171P(2) kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 CCAATCCATGAGGAAGGTAAA 0.299000 12 26 0 0 0.016723 0 0 CYP4F12 66002 broad.mit.edu 37 19 15789113 15789113 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:15789113T>A ENST00000550308.1 + 3 621 c.241T>A c.(241-243)Tcg>Acg p.S81T CYP4F12_ENST00000324632.9_Missense_Mutation_p.S81T NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 p.S81T(2) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GACCCAGATGTCGGCCACCTA 0.512000 66 194 0 0 0.014410 0 0 ADCY8 114 broad.mit.edu 37 8 131792870 131792870 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:131792870G>A ENST00000286355.5 - 18 5614 c.3522C>T c.(3520-3522)gtC>gtT p.V1174V ADCY8_ENST00000377928.3_Silent_p.V1043V NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1174 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.V1174V(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGTTGGGTTGGACTCTTCCCA 0.522000 HNSCC(32;0.087) 59 125 0 0 0.014410 0 0 CACNA1C 775 broad.mit.edu 37 12 2797654 2797654 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:2797654C>A ENST00000399655.1 + 46 6091 c.5826C>A c.(5824-5826)agC>agA p.S1942R CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1977R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1970R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1977R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1983R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1962R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S1990R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1948R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1959R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1942R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1967R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1942R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 2025 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.S1477R(2)|p.S2055R(2)|p.S1990R(2)|p.S1983R(2)|p.S1977R(2) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCCAGAGAAGCCATTCCCCTG 0.652000 41 86 1.49673e-21 2.33865e-21 0.006230 1 0 WIPF1 7456 broad.mit.edu 37 2 175437101 175437101 + Silent SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:175437101T>A ENST00000392547.2 - 5 531 c.432A>T c.(430-432)ccA>ccT p.P144P WIPF1_ENST00000392546.2_Silent_p.P144P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Silent_p.P144P|WIPF1_ENST00000359761.3_Silent_p.P144P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Silent_p.P144P|WIPF1_ENST00000409891.1_Silent_p.P144P NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 144 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding p.P144P(2) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 CTGGGCCACTTGGGGGTGAAA 0.582000 44 111 0 0 0.010771 0 0 OR51A4 401666 broad.mit.edu 37 11 4967760 4967760 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:4967760A>T ENST00000380373.2 - 1 596 c.571T>A c.(571-573)Tgt>Agt p.C191S MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C191S(2) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGTCAGAACAGGCCAACTTC 0.408000 14 51 0 0 0.008871 0 0 HSD11B1 3290 broad.mit.edu 37 1 209878376 209878376 + Splice_Site SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:209878376G>T ENST00000367028.2 + 2 257 c.e2+1 RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Splice_Site|HSD11B1_ENST00000261465.1_Splice_Site NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding p.?(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) TTCAGACCAGGTAAGTACCCA 0.453000 28 79 1.88708e-17 2.77512e-17 0.008361 1 0 NAV3 89795 broad.mit.edu 37 12 78542638 78542638 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:78542638G>T ENST00000397909.2 + 22 4897 c.4724G>T c.(4723-4725)cGg>cTg p.R1575L NAV3_ENST00000536525.2_Missense_Mutation_p.R1575L|NAV3_ENST00000266692.7_Missense_Mutation_p.R1398L|NAV3_ENST00000228327.6_Missense_Mutation_p.R1575L Q8IVL0 NAV3_HUMAN neuron navigator 3 1575 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.R1575L(2) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATAAACTGCGGAGAGAGCTG 0.333000 HNSCC(70;0.22) 4 11 0.00116845 0.00123427 0.001168 1 0 MYO7B 4648 broad.mit.edu 37 2 128391816 128391816 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:128391816G>A ENST00000389524.4 + 40 5555 c.5502G>A c.(5500-5502)caG>caA p.Q1834Q MYO7B_ENST00000409816.2_Silent_p.Q1833Q|MYO7B_ENST00000409090.1_Silent_p.Q686Q|MYO7B_ENST00000428314.1_Silent_p.Q1833Q Q6PIF6 MYO7B_HUMAN myosin VIIB 1833 FERM 2.|MyTH4 3. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.Q2077Q(1)|p.Q1833Q(1) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCAGGCTGCAGCTGGCCTCCT 0.662000 7 12 0 0 0.003080 0 0 GLUD2 2747 broad.mit.edu 37 X 120182373 120182373 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chrX:120182373G>T ENST00000328078.1 + 1 912 c.835G>T c.(835-837)Ggg>Tgg p.G279W NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 279 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding p.G279L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTCTTCCATGGGATTGAAAA 0.433000 69 67 3.94839e-29 6.58065e-29 0.014410 1 0 PTPRM 5797 broad.mit.edu 37 18 7926632 7926632 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:7926632A>G ENST00000332175.8 + 5 1651 c.614A>G c.(613-615)cAg>cGg p.Q205R PTPRM_ENST00000580170.1_Missense_Mutation_p.Q205R|PTPRM_ENST00000400053.4_Missense_Mutation_p.Q143R|PTPRM_ENST00000400060.4_Missense_Mutation_p.Q205R NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 205 Ig-like C2-type. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity p.Q205R(2) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GCTACCTTCCAGTGCAGTGCC 0.463000 36 75 0 0 0.014410 0 0 VCAN 1462 broad.mit.edu 37 5 82815769 82815769 + Silent SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:82815769T>C ENST00000265077.3 + 7 2209 c.1644T>C c.(1642-1644)taT>taC p.Y548Y VCAN_ENST00000512590.2_Silent_p.Y500Y|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.Y548Y|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 548 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.Y548Y(2) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGGTCACTATGGATTCACCT 0.408000 36 76 0 0 0.017118 0 0 RELN 5649 broad.mit.edu 37 7 103162494 103162494 + Missense_Mutation SNP G G A rs139106600 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:103162494G>A ENST00000424685.2 - 48 7802 c.7643C>T c.(7642-7644)tCg>tTg p.S2548L RELN_ENST00000343529.5_Missense_Mutation_p.S2548L|RELN_ENST00000428762.1_Missense_Mutation_p.S2548L P78509 RELN_HUMAN reelin 2548 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.S2548L(2) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGCCATTCCCGACGCCACGGC 0.488000 56 129 0 0 0.014410 0 0 DSCAM 1826 broad.mit.edu 37 21 41496170 41496170 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr21:41496170G>A ENST00000400454.1 - 20 4125 c.3648C>T c.(3646-3648)aaC>aaT p.N1216N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1216 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGATGATGCCGTTCAGCTTGA 0.572000 12 334 0 0 0.010729 0 0 GLG1 2734 broad.mit.edu 37 16 74526922 74526922 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:74526922G>A ENST00000422840.2 - 7 1166 c.1167C>T c.(1165-1167)aaC>aaT p.N389N GLG1_ENST00000447066.2_Silent_p.N378N|GLG1_ENST00000205061.5_Silent_p.N389N NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 389 Golgi membrane|integral to membrane receptor binding p.N389N(2) breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 ATCGCGGAAGGTTTTCCACAT 0.418000 13 144 0 0 0.020292 0 0 ANKRD42 338699 broad.mit.edu 37 11 82917155 82917155 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:82917155G>T ENST00000393389.3 + 3 1210 c.278G>T c.(277-279)gGt>gTt p.G93V ANKRD42_ENST00000393392.2_Missense_Mutation_p.G65V|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G93V|ANKRD42_ENST00000528722.1_5'UTR Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 65 p.G65V(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 ACAACGAGAGGTTGGACAGCA 0.378000 22 54 2.98393e-07 3.49679e-07 0.016522 1 0 KIAA1467 57613 broad.mit.edu 37 12 13229033 13229033 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:13229033T>A ENST00000197268.8 + 11 1718 c.1598T>A c.(1597-1599)cTt>cAt p.L533H NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 533 integral to membrane p.L533H(2) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CCCTCCATCCTTCTGGATCTG 0.552000 58 96 0 0 0.014410 0 0 IGSF8 93185 broad.mit.edu 37 1 160061677 160061677 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:160061677A>T ENST00000368086.1 - 6 1994 c.1778T>A c.(1777-1779)gTc>gAc p.V593D IGSF8_ENST00000314485.7_Missense_Mutation_p.V593D Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 593 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding p.V593D(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGCACCAGTGACTAGGGCCAC 0.567000 59 135 0 0 0.014410 0 0 HOXA11 3207 broad.mit.edu 37 7 27222459 27222459 + Missense_Mutation SNP T T G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:27222459T>G ENST00000006015.3 - 2 969 c.898A>C c.(898-900)Aac>Cac p.N300H NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 300 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.N300L(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 CGGTCTCTGTTAATTTTTTTT 0.448000 T NUP98 CML 50 167 0 0 0.014410 0 0 COL12A1 1303 broad.mit.edu 37 6 75841736 75841736 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr6:75841736G>A ENST00000322507.8 - 35 6166 c.5857C>T c.(5857-5859)Cgc>Tgc p.R1953C COL12A1_ENST00000345356.6_Missense_Mutation_p.R789C|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1953C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1953C NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1953 Fibronectin type-III 15. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.R1953C(2) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGGTCCCAGCGAACATCGAGG 0.458000 14 56 0 0 0.020292 0 0 ZBTB16 7704 broad.mit.edu 37 11 114113048 114113048 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:114113048G>T ENST00000335953.4 + 5 1993 c.1613G>T c.(1612-1614)cGc>cTc p.R538L ZBTB16_ENST00000392996.2_Missense_Mutation_p.R538L|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 538 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding p.R538L(2) central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CGCCACCTGCGCTCACATACA 0.602000 15 53 1.9806e-07 2.33929e-07 0.014323 1 0 NPTXR 23467 broad.mit.edu 37 22 39218644 39218644 + Silent SNP G G A rs145163836 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr22:39218644G>A ENST00000333039.2 - 5 1596 c.1473C>T c.(1471-1473)ttC>ttT p.F491F NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 491 Pentaxin. integral to membrane metal ion binding p.F491F(2) central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) TGCAGACATCGAAGGCAGCCT 0.622000 20 49 0 0 0.008871 0 0 FCF1 51077 broad.mit.edu 37 14 75182766 75182766 + Missense_Mutation SNP T T G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr14:75182766T>G ENST00000341162.4 + 4 310 c.256T>G c.(256-258)Tta>Gta p.L86V FCF1_ENST00000534938.2_Missense_Mutation_p.L74V|FCF1_ENST00000553615.1_Missense_Mutation_p.L71V NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 86 PINc. rRNA processing nucleolus p.L86V(2) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) CAAACTGGACTTAGTGCAGTC 0.358000 108 62 0 0 0.014410 0 0 MTHFSD 64779 broad.mit.edu 37 16 86565744 86565744 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:86565744C>T ENST00000322911.6 - 8 1072 c.1022G>A c.(1021-1023)cGg>cAg p.R341Q MTHFSD_ENST00000381214.5_Missense_Mutation_p.R342Q|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R341Q|MTHFSD_ENST00000546093.1_Missense_Mutation_p.R179Q|MTHFSD_ENST00000360900.6_Missense_Mutation_p.R342Q NM_001159377.1|NM_022764.2 NP_001152849.1|NP_073601.2 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 342 RRM. folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding p.R342Q(1)|p.R341Q(1) endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 GGCTCTGCGCCGCGGGCCCTG 0.711000 7 17 0 0 0.004482 0 0 LTBP1 4052 broad.mit.edu 37 2 33572578 33572578 + Splice_Site SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:33572578G>A ENST00000404816.2 + 26 4353 c.e26+1 LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.?(2) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACCTCCACAGGTAAGTCCCAG 0.547000 86 158 0 0 0.014410 0 0 POFUT2 23275 broad.mit.edu 37 21 46697007 46697007 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr21:46697007C>A ENST00000331343.7 - 6 782 c.756G>T c.(754-756)gaG>gaT p.E252D POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.E252D NM_015227.4 NP_056042.1 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 252 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity p.E252D(4) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) TGCTCCTGAACTCGTCTCCCA 0.612000 80 204 7.74691e-53 1.35121e-52 0.014410 1 0 OR52J3 119679 broad.mit.edu 37 11 5068314 5068314 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:5068314G>A ENST00000380370.1 + 1 559 c.559G>A c.(559-561)Gca>Aca p.A187T NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A187T(2) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CATGGGCATTGCAAAATTGTC 0.428000 17 56 0 0 0.004007 0 0 MOV10 4343 broad.mit.edu 37 1 113217566 113217566 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:113217566G>T ENST00000413052.2 + 2 422 c.32G>T c.(31-33)cGg>cTg p.R11L MOV10_ENST00000369645.1_Missense_Mutation_p.R11L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.R11L|MOV10_ENST00000357443.2_Missense_Mutation_p.R11L NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 11 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding p.R11L(2) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CGGCAGCTCCGGGAGGCGGGC 0.632000 39 75 6.4685e-43 1.10258e-42 0.014410 1 0 KDR 3791 broad.mit.edu 37 4 55955043 55955043 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr4:55955043C>T ENST00000263923.4 - 26 3797 c.3502G>A c.(3502-3504)Gct>Act p.A1168T RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1168 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.A1168T(2)|p.A1168S(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACCTGCTGAGCATTAGCTTGC 0.502000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 11 29 0 0 0.010729 0 0 MAGI1 9223 broad.mit.edu 37 3 65479199 65479199 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr3:65479199C>A ENST00000330909.8 - 3 537 c.538G>T c.(538-540)Ggc>Tgc p.G180C MAGI1_ENST00000402939.2_Missense_Mutation_p.G180C|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.G180C|MAGI1_ENST00000483466.1_Missense_Mutation_p.G180C NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 180 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding p.G180C(4) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCATAGGTGCCGACTTCCAGA 0.498000 36 75 9.65963e-10 1.20745e-09 0.015359 1 0 TTC37 9652 broad.mit.edu 37 5 94818288 94818288 + Silent SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:94818288T>C ENST00000358746.2 - 39 4399 c.4101A>G c.(4099-4101)agA>agG p.R1367R NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1367 binding p.R1367R(2) breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ACTGAACTTGTCTCAAAAGTA 0.388000 21 20 0 0 0.012319 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551855 58551855 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:58551855G>T ENST00000282326.1 + 4 655 c.408G>T c.(406-408)tgG>tgT p.W136C NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 136 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.W136C(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCAGGACTGGAGTTTCGGTG 0.622000 160 343 5.10563e-82 9.00993e-82 0.014410 1 0 SPTA1 6708 broad.mit.edu 37 1 158627290 158627290 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:158627290C>T ENST00000368148.3 - 19 2962 c.2782G>A c.(2782-2784)Ggt>Agt p.G928S SPTA1_ENST00000368147.3_Missense_Mutation_p.G928S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 928 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.G928S(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCATCAGCACCATAGTTAGTA 0.438000 28 53 0 0 0.005443 0 0 ASXL3 80816 broad.mit.edu 37 18 31323885 31323885 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:31323885T>C ENST00000269197.5 + 12 4073 c.4073T>C c.(4072-4074)gTc>gCc p.V1358A NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.V1358A(2) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTAGCTCTGTCTTGATTCCC 0.473000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 143 319 0 0 0.014410 0 0 CSMD1 64478 broad.mit.edu 37 8 2944626 2944626 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:2944626G>T ENST00000602557.1 - 50 8025 c.7470C>A c.(7468-7470)ctC>ctA p.L2490L CSMD1_ENST00000602723.1_Silent_p.L2490L|CSMD1_ENST00000400186.3_Silent_p.L2490L|CSMD1_ENST00000542608.1_Silent_p.L2489L|CSMD1_ENST00000537824.1_Silent_p.L2489L|CSMD1_ENST00000520002.1_Silent_p.L2490L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2490 Sushi 14. integral to membrane p.L2218L(2)|p.L2489L(2) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TACCCTGGCAGAGTGGCGTGA 0.453000 19 22 1.01871e-10 1.30604e-10 0.008871 1 0 TAOK2 9344 broad.mit.edu 37 16 29996668 29996668 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:29996668G>T ENST00000308893.4 + 14 2600 c.1557G>T c.(1555-1557)gaG>gaT p.E519D TAOK2_ENST00000543033.1_Missense_Mutation_p.E519D|TAOK2_ENST00000279394.3_Missense_Mutation_p.E519D|TAOK2_ENST00000416441.2_Missense_Mutation_p.E346D NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 519 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.E519D(2) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 AACGGGAGGAGCACAGTGCAC 0.672000 33 53 7.11191e-15 1.01599e-14 0.013726 1 0 ZNF43 7594 broad.mit.edu 37 19 21991491 21991491 + Nonsense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:21991491C>A ENST00000594012.1 - 7 1844 c.1330G>T c.(1330-1332)Gga>Tga p.G444* ZNF43_ENST00000354959.4_Nonsense_Mutation_p.G450*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.G444*|ZNF43_ENST00000595461.1_Nonsense_Mutation_p.G444* NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G450L(2) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGTTTCTCTCCAGTATGAATT 0.383000 20 36 5.26018e-13 7.04488e-13 0.012319 1 0 C16orf11 146325 broad.mit.edu 37 16 613967 613967 + Missense_Mutation SNP C C G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:613967C>G ENST00000409413.3 + 2 952 c.673C>G c.(673-675)Ccc>Gcc p.P225A NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 225 Pro-rich. p.P225A(1) central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CTACTTGGGGCCCTCACTGGC 0.731000 3 14 0 0 0.004672 0 0 GSDMB 55876 broad.mit.edu 37 17 38066035 38066035 + Nonsense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr17:38066035G>A ENST00000394175.2 - 3 773 c.550C>T c.(550-552)Cag>Tag p.Q184* GSDMB_ENST00000418519.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000360317.3_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000520542.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000394179.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000309481.7_Nonsense_Mutation_p.Q184* NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 184 cytoplasm p.Q184*(4) breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 AGATGGCCCTGAGAGATCTGG 0.532000 63 143 0 0 0.014410 0 0 PTPRD 5789 broad.mit.edu 37 9 8528763 8528763 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr9:8528763C>A ENST00000381196.4 - 12 912 c.369G>T c.(367-369)agG>agT p.R123S PTPRD_ENST00000397606.3_Missense_Mutation_p.R123S|PTPRD_ENST00000397611.3_Missense_Mutation_p.R123S|PTPRD_ENST00000397617.3_Missense_Mutation_p.R123S|PTPRD_ENST00000463477.1_Missense_Mutation_p.R123S|PTPRD_ENST00000540109.1_Missense_Mutation_p.R123S|PTPRD_ENST00000360074.4_Missense_Mutation_p.R123S|PTPRD_ENST00000537002.1_Missense_Mutation_p.R123S|PTPRD_ENST00000358503.5_Missense_Mutation_p.R123S|PTPRD_ENST00000486161.1_Missense_Mutation_p.R123S|PTPRD_ENST00000356435.5_Missense_Mutation_p.R123S|PTPRD_ENST00000355233.5_Missense_Mutation_p.R123S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 123 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R123S(8) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAGGGAAGCCCCTGGGAATTT 0.468000 TSP Lung(15;0.13) 9 38 1.08611e-07 1.29299e-07 0.010729 1 0 GART 2618 broad.mit.edu 37 21 34883584 34883584 + Silent SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr21:34883584A>G ENST00000381831.3 - 17 2552 c.2289T>C c.(2287-2289)atT>atC p.I763I GART_ENST00000381839.3_Silent_p.I763I|GART_ENST00000543717.1_Silent_p.I315I|GART_ENST00000381815.4_Silent_p.I763I NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 763 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.I763I(2) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CCACACTGCCAATCACCCAGG 0.453000 137 336 0 0 0.014410 0 0 PPM1B 5495 broad.mit.edu 37 2 44429147 44429147 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:44429147A>G ENST00000378551.2 + 2 1221 c.809A>G c.(808-810)aAt>aGt p.N270S PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Missense_Mutation_p.N270S|PPM1B_ENST00000409895.4_Missense_Mutation_p.N270S|PPM1B_ENST00000409432.3_Missense_Mutation_p.N270S NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 270 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity p.N270S(6) kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GACCTGGAAAATGTGTGCAAT 0.353000 15 44 0 0 0.008871 0 0 IL13RA2 3598 broad.mit.edu 37 X 114242517 114242517 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chrX:114242517C>A ENST00000371936.1 - 9 1224 c.975G>T c.(973-975)tgG>tgT p.W325C IL13RA2_ENST00000243213.1_Missense_Mutation_p.W325C Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 325 Fibronectin type-III 3. extracellular space|integral to membrane|soluble fraction cytokine receptor activity p.W325C(2) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 GTTTATCACTCCACTCACTCC 0.338000 16 16 9.16793e-09 1.10015e-08 0.004990 1 0 IQGAP2 10788 broad.mit.edu 37 5 75936794 75936794 + Nonsense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:75936794G>T ENST00000274364.6 + 17 2257 c.1960G>T c.(1960-1962)Gag>Tag p.E654* IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 654 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity p.E654*(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TTACATTCGTGAGAATATATG 0.408000 15 59 2.32078e-09 2.85342e-09 0.003163 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_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) 7 18 0.00448238 0.0047018 0.004482 1 0 INPPL1 3636 broad.mit.edu 37 11 71946219 71946219 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:71946219C>T ENST00000298229.2 + 22 2679 c.2475C>T c.(2473-2475)gtC>gtT p.V825V INPPL1_ENST00000538751.1_Silent_p.V583V|INPPL1_ENST00000541756.1_Silent_p.V583V NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 825 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding p.V825V(2) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGCTCACAGTCAAGTCCATGG 0.557000 56 97 0 0 0.014410 0 0 LAT 27040 broad.mit.edu 37 16 28996766 28996766 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:28996766G>A ENST00000395456.2 + 1 350 c.28G>A c.(28-30)Gtg>Atg p.V10M RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Missense_Mutation_p.V10M|LAT_ENST00000566177.1_Missense_Mutation_p.V10M|LAT_ENST00000564277.1_Missense_Mutation_p.V10M|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Missense_Mutation_p.V10M|LAT_ENST00000395461.3_Missense_Mutation_p.V46M|LAT_ENST00000360872.5_Missense_Mutation_p.V10M NM_001014987.1|NM_001014988.1|NM_014387.3 NP_001014987.1|NP_001014988.1|NP_055202.1 O43561 LAT_HUMAN linker for activation of T cells 10 calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity p.V10M(2) large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) GGTCCCCTGCGTGCTGGGGCT 0.637000 39 94 0 0 0.007835 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958720 57958720 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:57958720G>A ENST00000311591.3 + 1 815 c.758G>A c.(757-759)gGc>gAc p.G253D NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G253D(2) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CTTTTCTTTGGCACCCTCATC 0.577000 59 102 0 0 0.014410 0 0 SPAG17 200162 broad.mit.edu 37 1 118554977 118554977 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:118554977C>A ENST00000336338.5 - 30 4371 c.4306G>T c.(4306-4308)Gac>Tac p.D1436Y NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1436 cilium|flagellar axoneme|microtubule p.D1436Y(2) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACAACTTTGTCTTCTCGAGTT 0.378000 23 57 6.44725e-10 8.12679e-10 0.014323 1 0 CDH20 28316 broad.mit.edu 37 18 59157904 59157904 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:59157904C>A ENST00000262717.4 + 2 516 c.118C>A c.(118-120)Caa>Aaa p.Q40K CDH20_ENST00000538374.1_Missense_Mutation_p.Q40K|CDH20_ENST00000536675.2_Missense_Mutation_p.Q40K Q9HBT6 CAD20_HUMAN cadherin 20, type 2 40 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Q40K(2) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CCCAACACCACAAGGTGAATT 0.512000 13 110 0.00010058 0.000108539 0.013537 1 0 CYP4F3 4051 broad.mit.edu 37 19 15758117 15758117 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:15758117A>T ENST00000221307.7 + 5 556 c.508A>T c.(508-510)Agt>Tgt p.S170C CYP4F3_ENST00000591058.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000586182.1_Missense_Mutation_p.S170C NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 170 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.S170C(2) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TTTCAATGAGAGTGTGAACAT 0.502000 77 147 0 0 0.014410 0 0 GLUD2 2747 broad.mit.edu 37 X 120182374 120182374 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chrX:120182374G>T ENST00000328078.1 + 1 913 c.836G>T c.(835-837)gGg>gTg p.G279V NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 279 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding p.G279L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) GTCTTCCATGGGATTGAAAAC 0.433000 69 67 8.3131e-28 1.34082e-27 0.014410 1 0 FAM188B 84182 broad.mit.edu 37 7 30821598 30821598 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:30821598G>T ENST00000265299.6 + 3 266 c.189G>T c.(187-189)aaG>aaT p.K63N INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 63 p.K63N(2) endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GATAGGCAAAGGAAAATCCTC 0.363000 20 46 2.37509e-13 3.23876e-13 0.010504 1 0 GEM 2669 broad.mit.edu 37 8 95272446 95272446 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:95272446C>A ENST00000297596.2 - 2 550 c.286G>T c.(286-288)Gca>Tca p.A96S GEM_ENST00000396194.2_Missense_Mutation_p.A96S NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 96 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding p.A96S(2) endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGCACACCTGCAAAGATGTTG 0.592000 67 147 1.23106e-19 1.84658e-19 0.014410 1 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600154 28600154 + RNA SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:28600154T>A ENST00000568624.1 - 0 342 CTTCTGTTCCTATAGAAAGAG 0.557000 11 56 0 0 0.020292 0 0 KIF2B 84643 broad.mit.edu 37 17 51902309 51902309 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr17:51902309G>T ENST00000268919.4 + 1 2071 c.1915G>T c.(1915-1917)Gcc>Tcc p.A639S NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 639 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.A639S(2) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTTTTGCATTGCCCGGTCTTT 0.448000 32 79 1.39806e-14 1.95989e-14 0.008361 1 0 ELL2 22936 broad.mit.edu 37 5 95224622 95224622 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:95224622T>C ENST00000237853.4 - 12 2225 c.1876A>G c.(1876-1878)Agg>Ggg p.R626G ELL2_ENST00000431061.2_Missense_Mutation_p.R376G NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 626 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex p.R626G(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) CCTATTAGCCTTTTGATGTGA 0.343000 3 30 0 0 0.009096 0 0 CDK1 983 broad.mit.edu 37 10 62544479 62544479 + Silent SNP G G C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr10:62544479G>C ENST00000448257.2 + 3 255 c.54G>C c.(52-54)gtG>gtC p.V18V CDK1_ENST00000316629.4_Silent_p.V18V|CDK1_ENST00000373809.2_Silent_p.V18V|CDK1_ENST00000395284.3_Silent_p.V18V P06493 CDK1_HUMAN cyclin-dependent kinase 1 18 Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity p.V18V(2) ovary(1) 1 ATGGAGTTGTGTATAAGGGTA 0.383000 37 68 0 0 0.015359 0 0 OR6C65 403282 broad.mit.edu 37 12 55794443 55794443 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:55794443T>A ENST00000379665.2 + 1 230 c.131T>A c.(130-132)aTt>aAt p.I44N NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I44N(2) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 ATGATCATCATTATGTTAACA 0.308000 11 25 0 0 0.008291 0 0 WASH6P 653440 broad.mit.edu 37 X 155254706 155254706 + RNA SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chrX:155254706C>T ENST00000285718.7 + 0 1151 WASH6P_ENST00000461007.1_RNA p.T415M(2) GTGAGAGCCACGAGCCAAGGT 0.637000 4 8 0 0 0.014758 0 0 ATP7B 540 broad.mit.edu 37 13 52534313 52534313 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr13:52534313T>C ENST00000242839.4 - 7 2248 c.2092A>G c.(2092-2094)Atc>Gtc p.I698V ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.I698V|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.I587V|ATP7B_ENST00000418097.2_Missense_Mutation_p.I698V NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 698 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding p.I698V(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ATAAAGAAGATGAGATTTAGA 0.478000 Wilson disease 25 73 0 0 0.004656 0 0 ANKRD24 170961 broad.mit.edu 37 19 4216959 4216959 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:4216959C>A ENST00000600132.1 + 18 2078 c.1802C>A c.(1801-1803)cCc>cAc p.P601H ANKRD24_ENST00000262970.5_Missense_Mutation_p.P691H|ANKRD24_ENST00000318934.4_Missense_Mutation_p.P601H NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 601 p.P691H(1)|p.P467H(1)|p.P601H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GAAACAAAACCCACAGGGGCT 0.567000 20 23 1.56452e-12 2.0768e-12 0.007413 1 0 PDCD1LG2 80380 broad.mit.edu 37 9 5522564 5522564 + Silent SNP A A C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr9:5522564A>C ENST00000397747.3 + 2 266 c.18A>C c.(16-18)ctA>ctC p.L6L PDCD1LG2_ENST00000397745.2_Silent_p.L6L NM_025239.3 NP_079515.2 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 6 immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity p.L6L(1) large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) TCCTCCTGCTAATGTTGAGCC 0.443000 8 176 0 0 0.003080 0 0 LILRP2 79166 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 4 130 0 0 0.003080 0 0 NOL4 8715 broad.mit.edu 37 18 31523045 31523045 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:31523045C>A ENST00000261592.5 - 9 1823 c.1526G>T c.(1525-1527)cGt>cTt p.R509L NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R290L|NOL4_ENST00000538587.1_Missense_Mutation_p.R435L|NOL4_ENST00000535384.1_Missense_Mutation_p.R224L NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 509 nucleolus RNA binding p.R509L(2) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCTCTCCAGACGCATCCTCTT 0.443000 17 30 5.3912e-06 6.03493e-06 0.006122 1 0 MMP1 4312 broad.mit.edu 37 11 102667829 102667829 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:102667829G>T ENST00000315274.6 - 3 482 c.415C>A c.(415-417)Caa>Aaa p.Q139K WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 139 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.Q139K(2) breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CTCCAGAGTTGGAAGGCTTTC 0.423000 50 80 1.08114e-33 1.82215e-33 0.014410 1 0 ZNF43 7594 broad.mit.edu 37 19 21991490 21991490 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:21991490C>A ENST00000594012.1 - 7 1845 c.1331G>T c.(1330-1332)gGa>gTa p.G444V ZNF43_ENST00000354959.4_Missense_Mutation_p.G450V|ZNF43_ENST00000598381.1_Missense_Mutation_p.G444V|ZNF43_ENST00000595461.1_Missense_Mutation_p.G444V NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G450L(2) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGGTTTCTCTCCAGTATGAAT 0.383000 20 36 5.26018e-13 7.04488e-13 0.012319 1 0 XPO7 23039 broad.mit.edu 37 8 21853061 21853061 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:21853061G>T ENST00000434536.1 + 21 2425 c.2323G>T c.(2323-2325)Gcc>Tcc p.A775S XPO7_ENST00000433566.4_Missense_Mutation_p.A767S|XPO7_ENST00000252512.9_Missense_Mutation_p.A766S Q9UIA9 XPO7_HUMAN exportin 7 766 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity p.A766S(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CCATGATCCAGCCTGTACTAC 0.448000 13 28 0.000219431 0.000233438 0.020292 1 0 ASTN1 460 broad.mit.edu 37 1 176857323 176857323 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:176857323G>T ENST00000367654.2 - 18 2995 c.2982C>A c.(2980-2982)acC>acA p.T994T ASTN1_ENST00000361833.2_Silent_p.T986T|ASTN1_ENST00000367657.3_Silent_p.T986T|ASTN1_ENST00000424564.2_Silent_p.T986T O14525 ASTN1_HUMAN astrotactin 1 994 cell migration|neuron cell-cell adhesion integral to membrane p.T986T(2) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GAGAGCTCATGGTAGCCTCCT 0.537000 27 69 2.49675e-24 3.6619e-24 0.125774 1 0 HTR5A 3361 broad.mit.edu 37 7 154875952 154875952 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:154875952G>A ENST00000287907.2 + 2 1405 c.829G>A c.(829-831)Gag>Aag p.E277K HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 277 integral to plasma membrane serotonin receptor activity p.E277K(2) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CACGTGGCGGGAGCAGAAGGA 0.607000 43 55 0 0 0.139131 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221181 140221181 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:140221181G>A ENST00000531613.1 + 1 275 c.275G>A c.(274-276)cGc>cAc p.R92H PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R92H|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018911.2 NP_061734.1 p.R92H(4) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGATCGACCGCGAGGAGCTG 0.602000 115 373 0 0 0.139131 0 0 STAP2 55620 broad.mit.edu 37 19 4327149 4327149 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:4327149C>A ENST00000600324.1 - 8 802 c.735G>T c.(733-735)ctG>ctT p.L245L STAP2_ENST00000594605.1_Silent_p.L245L|STAP2_ENST00000597593.1_5'UTR NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 245 SH2. cytoplasm|nucleus protein binding p.L245L(2) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCGTCTAACAGGAATGGCA 0.647000 26 86 9.04412e-07 9.94853e-07 0.099896 1 0 GLYATL1 92292 broad.mit.edu 37 11 58711127 58711127 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:58711127C>A ENST00000300079.5 + 2 186 c.136C>A c.(136-138)Ctg>Atg p.L46M RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 0 mitochondrion glycine N-acyltransferase activity p.L46M(2)|p.L46L(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) ctcagagtggctgaggataat 0.488000 18 28 2.4624e-09 2.8512e-09 0.049695 1 0 LILRB1 10859 broad.mit.edu 37 19 55144063 55144063 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:55144063C>T ENST00000396331.1 + 7 1167 c.810C>T c.(808-810)ggC>ggT p.G270G LILRB1_ENST00000396327.3_Silent_p.G270G|LILRB1_ENST00000396315.1_Silent_p.G270G|LILRB1_ENST00000427581.2_Silent_p.G306G|LILRB1_ENST00000396317.1_Silent_p.G270G|LILRB1_ENST00000396332.4_Silent_p.G270G|LILRB1_ENST00000434867.2_Silent_p.G270G|LILRB1_ENST00000324602.7_Silent_p.G270G|LILRB1_ENST00000418536.2_Silent_p.G270G|LILRB1_ENST00000448689.1_Silent_p.G270G|LILRB1_ENST00000396321.2_Silent_p.G270G NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 270 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.G270G(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGCTCGCTGGCGCACAGCCCC 0.607000 HNSCC(37;0.09) 87 167 0 0 0.139131 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123489404 123489404 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:123489404G>T ENST00000529750.1 + 18 2232 c.1905G>T c.(1903-1905)ctG>ctT p.L635L GRAMD1B_ENST00000450171.2_Silent_p.L322L|GRAMD1B_ENST00000322282.7_Silent_p.L635L|GRAMD1B_ENST00000456860.2_Silent_p.L642L NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 635 integral to membrane p.L635L(4) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TTCCTAGTCTGGTGCTGCTGG 0.547000 3 1 0.004672 0.00476482 0.115264 1 0 RARS 5917 broad.mit.edu 37 5 167933091 167933091 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:167933091A>G ENST00000231572.3 + 10 1177 c.1123A>G c.(1123-1125)Ata>Gta p.I375V RARS_ENST00000538719.1_Missense_Mutation_p.I169V NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 375 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding p.I375V(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) ACCATTAACCATAGTAAAATC 0.358000 44 113 0 0 0.131918 0 0 LRGUK 136332 broad.mit.edu 37 7 133812255 133812255 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:133812255C>T ENST00000285928.2 + 1 204 c.135C>T c.(133-135)ccC>ccT p.P45P LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 45 ATP binding|kinase activity p.P45P(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GGTCTTTTCCCATGGGGCAGA 0.577000 78 167 0 0 0.139131 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256557 140256557 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:140256557C>A ENST00000398631.2 + 1 1500 c.1500C>A c.(1498-1500)ggC>ggA p.G500G PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 p.G500G(2) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGGTGGGCGAGCACGCAC 0.677000 57 97 5.86059e-21 8.2801e-21 0.139131 1 0 LINC01317 104355287 broad.mit.edu 37 2 33952372 33952372 + RNA SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr2:33952372G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA p.I157I(1) TGGGGAAGCGGATGGGCAGCA 0.632000 14 27 0 0 0.105934 0 0 CCDC116 164592 broad.mit.edu 37 22 21991045 21991045 + Nonsense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr22:21991045C>T ENST00000292779.3 + 5 1689 c.1528C>T c.(1528-1530)Cag>Tag p.Q510* NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 510 p.Q510*(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) AAGGGCCCGGCAGGCCTCCCG 0.642000 91 149 0 0 0.139131 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 47 0 0 0.047766 0 0 EPHA6 285220 broad.mit.edu 37 3 96963011 96963011 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr3:96963011G>T ENST00000389672.5 + 5 1524 c.1486G>T c.(1486-1488)Gta>Tta p.V496L EPHA6_ENST00000470610.2_Missense_Mutation_p.V496L NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 401 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity p.V402L(4)|p.V496L(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TTCCGTGATAGTACTTGACTT 0.443000 14 29 0.000151284 0.000158488 0.105934 1 0 TECTA 7007 broad.mit.edu 37 11 120989078 120989078 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:120989078G>T ENST00000392793.1 + 7 1125 c.854G>T c.(853-855)tGt>tTt p.C285F TECTA_ENST00000264037.2_Missense_Mutation_p.C285F O75443 TECTA_HUMAN tectorin alpha 285 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.C285F(2) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AAGTGCCGCTGTCTGGATTTC 0.512000 54 78 3.21867e-24 4.67619e-24 0.139131 1 0 HSD11B1 3290 broad.mit.edu 37 1 209878375 209878375 + Splice_Site SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:209878375G>T ENST00000367028.2 + 2 257 c.88_splice c.e2+1 p.E30_splice RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site_p.E30_splice|HSD11B1_ENST00000367027.3_Splice_Site_p.E30_splice NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 30 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding p.?(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) ATTCAGACCAGGTAAGTACCC 0.448000 28 79 1.88708e-17 2.57178e-17 0.134883 1 0 NPTXR 23467 broad.mit.edu 37 22 39218644 39218644 + Silent SNP G G A rs145163836 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr22:39218644G>A ENST00000333039.2 - 5 1596 c.1473C>T c.(1471-1473)ttC>ttT p.F491F NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 491 Pentaxin. integral to membrane metal ion binding p.F491F(2) central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) TGCAGACATCGAAGGCAGCCT 0.622000 20 49 0 0 0.049695 0 0 TMTC2 160335 broad.mit.edu 37 12 83251161 83251161 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:83251161G>T ENST00000549919.1 + 3 2243 c.438G>T c.(436-438)ttG>ttT p.L146F TMTC2_ENST00000321196.3_Missense_Mutation_p.L152F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L152F Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 152 endoplasmic reticulum|integral to membrane binding p.L152F(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 TCCTCTCCTTGCTCTGCTACA 0.557000 21 46 4.7796e-09 5.49298e-09 0.099896 1 0 C8orf47 203111 broad.mit.edu 37 8 99102146 99102146 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr8:99102146C>T ENST00000318528.3 + 2 1260 c.901C>T c.(901-903)Cct>Tct p.P301S C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 301 Glu-rich. p.P301S(2) kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GCAGATTCAACCTGAAGGAAT 0.438000 47 87 0 0 0.139131 0 0 RP1L1 94137 broad.mit.edu 37 8 10467287 10467287 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr8:10467287G>T ENST00000382483.3 - 4 4544 c.4321C>A c.(4321-4323)Ccg>Acg p.P1441T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1441 intracellular signal transduction p.P1441T(2) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCGGGGCACGGCTCTGCAGAG 0.627000 250 481 5.97512e-100 9.78903e-100 0.139131 1 0 USH2A 7399 broad.mit.edu 37 1 216074227 216074227 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:216074227G>A ENST00000366943.2 - 39 7707 c.7321C>T c.(7321-7323)Ccc>Tcc p.P2441S USH2A_ENST00000307340.3_Missense_Mutation_p.P2441S|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2441 Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.P2441S(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAAAGCCTGGGAGGCAGCACG 0.493000 HNSCC(13;0.011) 19 38 0 0 0.175082 0 0 PAQR8 85315 broad.mit.edu 37 6 52268034 52268034 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr6:52268034G>A ENST00000442253.2 + 2 197 c.23G>A c.(22-24)cGc>cAc p.R8H PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 8 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding p.R8H(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) ATCTTGGAGCGCCTGAGCACC 0.622000 10 49 0 0 0.093190 0 0 PEX5L 51555 broad.mit.edu 37 3 179519752 179519752 + Missense_Mutation SNP G G C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr3:179519752G>C ENST00000467460.1 - 15 2075 c.1745C>G c.(1744-1746)cCt>cGt p.P582R PEX5L_ENST00000464614.1_Missense_Mutation_p.P474R|PEX5L_ENST00000392649.3_Missense_Mutation_p.P474R|PEX5L_ENST00000465751.1_Missense_Mutation_p.P558R|PEX5L_ENST00000468741.1_Missense_Mutation_p.P390R|PEX5L_ENST00000476138.1_Missense_Mutation_p.P539R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.P547R|PEX5L_ENST00000263962.8_Missense_Mutation_p.P580R|PEX5L_ENST00000472994.1_Missense_Mutation_p.P523R NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 582 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding p.P582R(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TGCAGGATGAGGAACTTGCTG 0.463000 76 189 0 0 0.139131 0 0 UBE3D 90025 broad.mit.edu 37 6 83775392 83775392 + Nonsense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr6:83775392C>A ENST00000369747.3 - 1 168 c.46G>T c.(46-48)Gga>Tga p.G16* UBE3D_ENST00000369745.5_Nonsense_Mutation_p.G16* NM_198920.1 NP_944602.1 Q7Z6J8 UB2CB_HUMAN ubiquitin protein ligase E3D 16 cytoplasm ligase activity p.G16*(1) TGCAGCTGTCCCCGCACCTCC 0.672000 OREG0017550 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 16 7.93312e-07 8.78921e-07 0.119110 1 0 PAF1 54623 broad.mit.edu 37 19 39879075 39879075 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:39879075C>A ENST00000221265.3 - 11 1220 c.890G>T c.(889-891)tGg>tTg p.W297L PAF1_ENST00000221266.7_Missense_Mutation_p.W264L|PAF1_ENST00000595564.1_Missense_Mutation_p.W287L NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 297 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding p.W297L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CTTCACGTTCCAGTTGTACTC 0.478000 87 196 4.3955e-51 6.90722e-51 0.139131 1 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 4 42 0 0 0.047766 0 0 SNTG1 54212 broad.mit.edu 37 8 51617264 51617264 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr8:51617264G>T ENST00000522124.1 + 16 1804 c.1143G>T c.(1141-1143)tgG>tgT p.W381C SNTG1_ENST00000518864.1_Missense_Mutation_p.W381C|SNTG1_ENST00000517473.1_Missense_Mutation_p.W381C|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381C NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 381 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.W381F(4) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCGCCCAGTGGGAAAGAGCCT 0.557000 17 54 4.14922e-12 5.11184e-12 0.146539 1 0 EMR3 84658 broad.mit.edu 37 19 14758015 14758015 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:14758015G>A ENST00000253673.5 - 8 960 c.860C>T c.(859-861)aCg>aTg p.T287M EMR3_ENST00000344373.4_Missense_Mutation_p.T235M|EMR3_ENST00000443157.2_Missense_Mutation_p.T161M|EMR3_ENST00000599900.1_Missense_Mutation_p.T72M NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 287 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 GAAAGTCAGCGTCACAGACTT 0.483000 16 479 0 0 0.146539 0 0 LPPR4 9890 broad.mit.edu 37 1 99772407 99772407 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:99772407C>A ENST00000370185.3 + 7 2630 c.2133C>A c.(2131-2133)agC>agA p.S711R LPPR4_ENST00000457765.1_Missense_Mutation_p.S653R|LPPR4_ENST00000370184.1_Missense_Mutation_p.S553R NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 711 phosphatidate phosphatase activity p.S711R(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TAGAGGGCAGCGAAATTGGCT 0.522000 16 38 6.72482e-11 8.21923e-11 0.132662 1 0 HOXA11 3207 broad.mit.edu 37 7 27222458 27222458 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:27222458T>A ENST00000006015.3 - 2 970 c.899A>T c.(898-900)aAc>aTc p.N300I NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 300 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.N300L(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 ACGGTCTCTGTTAATTTTTTT 0.448000 T NUP98 CML 51 167 0 0 0.139131 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759333 121759333 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:121759333C>A ENST00000261367.7 + 6 2470 c.1042C>A c.(1042-1044)Cta>Ata p.L348I SNCAIP_ENST00000503116.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L301I|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L301I|SNCAIP_ENST00000542191.1_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 301 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding p.L348I(4)|p.L301I(2) NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GGTCAGTGGCCTAAACCGGAC 0.483000 43 89 1.00953e-15 1.36375e-15 0.131918 1 0 DLGAP3 58512 broad.mit.edu 37 1 35369906 35369906 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:35369906G>A ENST00000373347.1 - 3 1347 c.1079C>T c.(1078-1080)gCc>gTc p.A360V DLGAP3_ENST00000235180.4_Missense_Mutation_p.A360V O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 360 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.A360V(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CCTGGCTTTGGCCTTGGTCTC 0.592000 71 154 0 0 0.139131 0 0 CTNND1 1500 broad.mit.edu 37 11 57569381 57569381 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:57569381G>T ENST00000524630.1 + 7 1646 c.1133G>T c.(1132-1134)cGc>cTc p.R378L CTNND1_ENST00000361332.4_Missense_Mutation_p.R378L|CTNND1_ENST00000361796.4_Missense_Mutation_p.R378L|CTNND1_ENST00000428599.2_Missense_Mutation_p.R378L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R277L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R277L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R277L|CTNND1_ENST00000532245.1_Missense_Mutation_p.R277L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526357.1_Missense_Mutation_p.R324L|CTNND1_ENST00000415361.2_Missense_Mutation_p.R277L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R277L|CTNND1_ENST00000531014.1_Missense_Mutation_p.R55L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R378L|CTNND1_ENST00000399050.4_Missense_Mutation_p.R378L|CTNND1_ENST00000526772.1_Missense_Mutation_p.R55L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R324L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R378L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R378L|CTNND1_ENST00000361391.6_Missense_Mutation_p.R378L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R277L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R324L|CTNND1_ENST00000527467.1_Missense_Mutation_p.R55L|CTNND1_ENST00000525902.1_Missense_Mutation_p.R55L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R378L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R277L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R324L|CTNND1_ENST00000533667.1_Missense_Mutation_p.R55L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R378L O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 378 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding p.R378L(4) breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CTTGGATTCCGCTTGGATGCT 0.542000 40 121 2.35958e-20 3.30342e-20 0.111260 1 0 TRPM8 79054 broad.mit.edu 37 2 234835266 234835266 + Silent SNP G G A rs149381224 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr2:234835266G>A ENST00000324695.4 + 2 124 c.84G>A c.(82-84)gcG>gcA p.A28A TRPM8_ENST00000433712.2_5'UTR NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 28 integral to membrane p.A28A(2) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ACTCCAGCGCGTCTCGGAGCA 0.512000 29 63 0 0 0.108266 0 0 ZBTB16 7704 broad.mit.edu 37 11 114113048 114113048 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:114113048G>T ENST00000335953.4 + 5 1993 c.1613G>T c.(1612-1614)cGc>cTc p.R538L ZBTB16_ENST00000392996.2_Missense_Mutation_p.R538L|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 538 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding p.R538L(2) central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CGCCACCTGCGCTCACATACA 0.602000 15 53 1.9806e-07 2.22637e-07 0.069288 1 0 SETBP1 26040 broad.mit.edu 37 18 42532619 42532619 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr18:42532619G>T ENST00000282030.5 + 4 3610 c.3314G>T c.(3313-3315)gGt>gTt p.G1105V NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1105 nucleus DNA binding p.G1105V(2)|p.G1051V(2) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGATGTCCGGTGCAGCTAAG 0.547000 Schinzel-Giedion syndrome 59 138 7.50695e-29 1.1334e-28 0.139131 1 0 SEMA6A 57556 broad.mit.edu 37 5 115782618 115782618 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:115782618G>T ENST00000343348.6 - 19 3571 c.2784C>A c.(2782-2784)agC>agA p.S928R SEMA6A_ENST00000513137.1_Missense_Mutation_p.S355R|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S928R|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S405R|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S945R|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S307R NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 928 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity p.S928R(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGGCCTGGTGGCTTCTCGTGA 0.557000 36 73 1.59361e-14 2.07979e-14 0.092188 1 0 OR1F2P 26184 broad.mit.edu 37 16 3266457 3266457 + RNA SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:3266457G>A ENST00000576468.1 + 0 418 GGTGACTCCCGTGATGAATCC 0.433000 5 18 0 0 0.038147 0 0 RPTN 126638 broad.mit.edu 37 1 152128367 152128367 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:152128367T>A ENST00000316073.3 - 3 1272 c.1208A>T c.(1207-1209)tAt>tTt p.Y403F NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 403 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.Y403F(2) breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGTCTGACCATAGTGAGAACT 0.507000 428 914 0 0 0.139131 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193285 132193285 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:132193285C>A ENST00000359827.3 - 2 1130 c.168G>T c.(166-168)gtG>gtT p.V56V PLXNA4_ENST00000321063.4_Silent_p.V56V|PLXNA4_ENST00000423507.2_Silent_p.V56V|PLXNA4_ENST00000378539.5_Silent_p.V56V Q9HCM2 PLXA4_HUMAN plexin A4 56 Sema. integral to membrane|intracellular|plasma membrane p.V56V(8) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCCTCTCATCCACCACCAGGT 0.592000 39 91 1.47197e-15 1.97116e-15 0.098360 1 0 TRIM22 10346 broad.mit.edu 37 11 5730700 5730700 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:5730700C>T ENST00000379965.3 + 8 1596 c.1319C>T c.(1318-1320)cCc>cTc p.P440L TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 440 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.P440L(2) kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GCTGTGCCTCCCTGTCGTATT 0.438000 67 137 0 0 0.139131 0 0 SNTG1 54212 broad.mit.edu 37 8 51617263 51617263 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr8:51617263G>T ENST00000522124.1 + 16 1803 c.1142G>T c.(1141-1143)tGg>tTg p.W381L SNTG1_ENST00000518864.1_Missense_Mutation_p.W381L|SNTG1_ENST00000517473.1_Missense_Mutation_p.W381L|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381L NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 381 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.W381F(4) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CTCGCCCAGTGGGAAAGAGCC 0.552000 17 55 4.14922e-12 5.11184e-12 0.146539 1 0 DNHD1 144132 broad.mit.edu 37 11 6588836 6588836 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:6588836G>A ENST00000254579.6 + 36 12661 c.12097G>A c.(12097-12099)Gag>Aag p.E4033K DNHD1_ENST00000527990.2_Missense_Mutation_p.E4033K NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4033 microtubule-based movement dynein complex microtubule motor activity p.E4033K(2) NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCCAGGGCCTGAGCCACTCAG 0.642000 19 34 0 0 0.049695 0 0 C1orf173 127254 broad.mit.edu 37 1 75038095 75038095 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:75038095G>T ENST00000326665.5 - 14 3517 c.3299C>A c.(3298-3300)gCg>gAg p.A1100E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1100 Glu-rich. p.A1100E(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCCTTCTTCCGCTTTAAGTTT 0.443000 62 153 1.44317e-28 2.15775e-28 0.139131 1 0 THSD4 79875 broad.mit.edu 37 15 72037537 72037537 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr15:72037537G>A ENST00000355327.3 + 12 2133 c.1999G>A c.(1999-2001)Gag>Aag p.E667K THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E667K|THSD4_ENST00000357769.4_Missense_Mutation_p.E307K Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 667 proteinaceous extracellular matrix metalloendopeptidase activity p.E667K(2) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GCCGACCCCCGAGGAGGAGCC 0.547000 187 399 0 0 0.139131 0 0 ZNF287 57336 broad.mit.edu 37 17 16470691 16470691 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr17:16470691C>T ENST00000395824.1 - 2 972 c.355G>A c.(355-357)Gaa>Aaa p.E119K ZNF287_ENST00000395825.3_Missense_Mutation_p.E119K Q9HBT7 ZN287_HUMAN zinc finger protein 287 112 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E112K(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) GTCACTGCTTCCTCGCTGCTC 0.507000 48 44 0 0 0.139131 0 0 SPATA13 221178 broad.mit.edu 37 13 24860373 24860373 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr13:24860373G>T ENST00000424834.2 + 8 2796 c.2323G>T c.(2323-2325)Gtc>Ttc p.V775F SPATA13_ENST00000409126.1_Missense_Mutation_p.V72F|SPATA13_ENST00000399949.2_Missense_Mutation_p.V72F|SPATA13_ENST00000382108.3_Missense_Mutation_p.V775F|SPATA13_ENST00000382095.4_Missense_Mutation_p.V150F|SPATA13_ENST00000343003.6_Missense_Mutation_p.V94F Q96N96 SPT13_HUMAN spermatogenesis associated 13 150 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity p.V150F(2)|p.V775F(2) breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGGCAACGTGGTCTGCGCAGA 0.582000 173 263 1.06226e-90 1.72199e-90 0.139131 1 0 KLRC2 3822 broad.mit.edu 37 12 10584778 10584778 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:10584778A>G ENST00000381902.2 - 5 517 c.511T>C c.(511-513)Tca>Cca p.S171P KLRC2_ENST00000536833.2_Missense_Mutation_p.S112P|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.S171P NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 171 C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity p.S171P(2) kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 CCAATCCATGAGGAAGGTAAA 0.299000 12 26 0 0 0.105934 0 0 CYP4F12 66002 broad.mit.edu 37 19 15789113 15789113 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:15789113T>A ENST00000550308.1 + 3 621 c.241T>A c.(241-243)Tcg>Acg p.S81T CYP4F12_ENST00000324632.9_Missense_Mutation_p.S81T NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 p.S81T(2) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GACCCAGATGTCGGCCACCTA 0.512000 66 194 0 0 0.139131 0 0 ADCY8 114 broad.mit.edu 37 8 131792870 131792870 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr8:131792870G>A ENST00000286355.5 - 18 5614 c.3522C>T c.(3520-3522)gtC>gtT p.V1174V ADCY8_ENST00000377928.3_Silent_p.V1043V NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1174 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.V1174V(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGTTGGGTTGGACTCTTCCCA 0.522000 HNSCC(32;0.087) 59 125 0 0 0.139131 0 0 CACNA1C 775 broad.mit.edu 37 12 2797654 2797654 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:2797654C>A ENST00000399655.1 + 46 6091 c.5826C>A c.(5824-5826)agC>agA p.S1942R CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1948R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1967R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1977R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1977R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1962R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1970R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S1990R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1983R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1959R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 2025 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.S1477R(2)|p.S2055R(2)|p.S1990R(2)|p.S1983R(2)|p.S1977R(2) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCCAGAGAAGCCATTCCCCTG 0.652000 41 86 1.49673e-21 2.15418e-21 0.086207 1 0 WIPF1 7456 broad.mit.edu 37 2 175437101 175437101 + Silent SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr2:175437101T>A ENST00000392547.2 - 5 531 c.432A>T c.(430-432)ccA>ccT p.P144P AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P144P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P144P|WIPF1_ENST00000359761.3_Silent_p.P144P|WIPF1_ENST00000272746.5_Silent_p.P144P|WIPF1_ENST00000409415.3_Silent_p.P144P NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 144 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding p.P144P(2) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 CTGGGCCACTTGGGGGTGAAA 0.582000 44 111 0 0 0.117977 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 54 0 0 0.014758 0 0 OR51A4 401666 broad.mit.edu 37 11 4967760 4967760 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:4967760A>T ENST00000380373.2 - 1 596 c.571T>A c.(571-573)Tgt>Agt p.C191S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C191S(2) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGTCAGAACAGGCCAACTTC 0.408000 14 51 0 0 0.049695 0 0 HSD11B1 3290 broad.mit.edu 37 1 209878376 209878376 + Splice_Site SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:209878376G>T ENST00000367028.2 + 2 257 c.e2+1 RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding p.?(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) TTCAGACCAGGTAAGTACCCA 0.453000 28 79 1.88708e-17 2.57178e-17 0.134883 1 0 NAV3 89795 broad.mit.edu 37 12 78542638 78542638 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:78542638G>T ENST00000397909.2 + 22 4897 c.4724G>T c.(4723-4725)cGg>cTg p.R1575L NAV3_ENST00000266692.7_Missense_Mutation_p.R1398L|NAV3_ENST00000228327.6_Missense_Mutation_p.R1575L|NAV3_ENST00000536525.2_Missense_Mutation_p.R1575L Q8IVL0 NAV3_HUMAN neuron navigator 3 1575 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.R1575L(2) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATAAACTGCGGAGAGAGCTG 0.333000 HNSCC(70;0.22) 4 11 0.00116845 0.00120766 0.021553 1 0 GLUD2 2747 broad.mit.edu 37 X 120182373 120182373 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chrX:120182373G>T ENST00000328078.1 + 1 912 c.835G>T c.(835-837)Ggg>Tgg p.G279W NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 279 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding p.G279L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTCTTCCATGGGATTGAAAA 0.433000 69 67 3.94839e-29 6.02032e-29 0.139131 1 0 PTPRM 5797 broad.mit.edu 37 18 7926632 7926632 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr18:7926632A>G ENST00000332175.8 + 5 1651 c.614A>G c.(613-615)cAg>cGg p.Q205R PTPRM_ENST00000400053.4_Missense_Mutation_p.Q143R|PTPRM_ENST00000400060.4_Missense_Mutation_p.Q205R|PTPRM_ENST00000580170.1_Missense_Mutation_p.Q205R NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 205 Ig-like C2-type. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity p.Q205R(2) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GCTACCTTCCAGTGCAGTGCC 0.463000 36 75 0 0 0.139131 0 0 VCAN 1462 broad.mit.edu 37 5 82815769 82815769 + Silent SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:82815769T>C ENST00000265077.3 + 7 2209 c.1644T>C c.(1642-1644)taT>taC p.Y548Y VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.Y548Y|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.Y500Y NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 548 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.Y548Y(2) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGGTCACTATGGATTCACCT 0.408000 36 76 0 0 0.064281 0 0 RELN 5649 broad.mit.edu 37 7 103162494 103162494 + Missense_Mutation SNP G G A rs139106600 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:103162494G>A ENST00000424685.2 - 48 7802 c.7643C>T c.(7642-7644)tCg>tTg p.S2548L RELN_ENST00000428762.1_Missense_Mutation_p.S2548L|RELN_ENST00000343529.5_Missense_Mutation_p.S2548L P78509 RELN_HUMAN reelin 2548 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.S2548L(2) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGCCATTCCCGACGCCACGGC 0.488000 56 129 0 0 0.139131 0 0 DSCAM 1826 broad.mit.edu 37 21 41496170 41496170 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr21:41496170G>A ENST00000400454.1 - 20 4125 c.3648C>T c.(3646-3648)aaC>aaT p.N1216N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1216 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGATGATGCCGTTCAGCTTGA 0.572000 12 334 0 0 0.080935 0 0 GLG1 2734 broad.mit.edu 37 16 74526922 74526922 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:74526922G>A ENST00000422840.2 - 7 1166 c.1167C>T c.(1165-1167)aaC>aaT p.N389N GLG1_ENST00000447066.2_Silent_p.N378N|GLG1_ENST00000205061.5_Silent_p.N389N NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 389 Golgi membrane|integral to membrane receptor binding p.N389N(2) breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 ATCGCGGAAGGTTTTCCACAT 0.418000 13 144 0 0 0.119110 0 0 ANKRD42 338699 broad.mit.edu 37 11 82917155 82917155 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:82917155G>T ENST00000393389.3 + 3 1210 c.278G>T c.(277-279)gGt>gTt p.G93V ANKRD42_ENST00000393392.2_Missense_Mutation_p.G65V|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G93V|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000528722.1_5'UTR Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 65 p.G65V(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 ACAACGAGAGGTTGGACAGCA 0.378000 22 54 2.98393e-07 3.32989e-07 0.076483 1 0 KIAA1467 57613 broad.mit.edu 37 12 13229033 13229033 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:13229033T>A ENST00000197268.8 + 11 1718 c.1598T>A c.(1597-1599)cTt>cAt p.L533H NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 533 integral to membrane p.L533H(2) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CCCTCCATCCTTCTGGATCTG 0.552000 58 96 0 0 0.139131 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074441 76074441 + RNA SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr15:76074441A>T ENST00000395215.3 + 0 620 CGAGCTGCAGAGAAGCGGTCC 0.557000 5 56 0 0 0.047766 0 0 IGSF8 93185 broad.mit.edu 37 1 160061677 160061677 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:160061677A>T ENST00000368086.1 - 6 1994 c.1778T>A c.(1777-1779)gTc>gAc p.V593D IGSF8_ENST00000314485.7_Missense_Mutation_p.V593D Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 593 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding p.V593D(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGCACCAGTGACTAGGGCCAC 0.567000 59 135 0 0 0.139131 0 0 HOXA11 3207 broad.mit.edu 37 7 27222459 27222459 + Missense_Mutation SNP T T G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:27222459T>G ENST00000006015.3 - 2 969 c.898A>C c.(898-900)Aac>Cac p.N300H NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 300 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.N300L(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 CGGTCTCTGTTAATTTTTTTT 0.448000 T NUP98 CML 50 167 0 0 0.139131 0 0 COL12A1 1303 broad.mit.edu 37 6 75841736 75841736 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr6:75841736G>A ENST00000322507.8 - 35 6166 c.5857C>T c.(5857-5859)Cgc>Tgc p.R1953C COL12A1_ENST00000345356.6_Missense_Mutation_p.R789C|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1953C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1953C NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1953 Fibronectin type-III 15. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.R1953C(2) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGGTCCCAGCGAACATCGAGG 0.458000 14 56 0 0 0.119110 0 0 FCF1 51077 broad.mit.edu 37 14 75182766 75182766 + Missense_Mutation SNP T T G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr14:75182766T>G ENST00000341162.4 + 4 310 c.256T>G c.(256-258)Tta>Gta p.L86V FCF1_ENST00000534938.2_Missense_Mutation_p.L74V|FCF1_ENST00000553615.1_Missense_Mutation_p.L71V NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 86 PINc. rRNA processing nucleolus p.L86V(2) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) CAAACTGGACTTAGTGCAGTC 0.358000 108 62 0 0 0.139131 0 0 LTBP1 4052 broad.mit.edu 37 2 33572578 33572578 + Splice_Site SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr2:33572578G>A ENST00000404816.2 + 26 4353 c.e26+1 LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.?(2) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACCTCCACAGGTAAGTCCCAG 0.547000 86 158 0 0 0.139131 0 0 POFUT2 23275 broad.mit.edu 37 21 46697007 46697007 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr21:46697007C>A ENST00000331343.7 - 6 782 c.756G>T c.(754-756)gaG>gaT p.E252D POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.E252D NM_015227.4 NP_056042.1 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 252 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity p.E252D(4) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) TGCTCCTGAACTCGTCTCCCA 0.612000 80 204 7.74691e-53 1.22992e-52 0.139131 1 0 OR52J3 119679 broad.mit.edu 37 11 5068314 5068314 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:5068314G>A ENST00000380370.1 + 1 559 c.559G>A c.(559-561)Gca>Aca p.A187T NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A187T(2) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CATGGGCATTGCAAAATTGTC 0.428000 17 56 0 0 0.146539 0 0 MOV10 4343 broad.mit.edu 37 1 113217566 113217566 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:113217566G>T ENST00000413052.2 + 2 422 c.32G>T c.(31-33)cGg>cTg p.R11L MOV10_ENST00000357443.2_Missense_Mutation_p.R11L|MOV10_ENST00000544796.1_Missense_Mutation_p.R11L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.R11L NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 11 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding p.R11L(2) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CGGCAGCTCCGGGAGGCGGGC 0.632000 39 75 6.4685e-43 1.00621e-42 0.139131 1 0 KDR 3791 broad.mit.edu 37 4 55955043 55955043 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr4:55955043C>T ENST00000263923.4 - 26 3797 c.3502G>A c.(3502-3504)Gct>Act p.A1168T RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1168 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.A1168T(2)|p.A1168S(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACCTGCTGAGCATTAGCTTGC 0.502000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 11 29 0 0 0.080935 0 0 MAGI1 9223 broad.mit.edu 37 3 65479199 65479199 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr3:65479199C>A ENST00000330909.8 - 3 537 c.538G>T c.(538-540)Ggc>Tgc p.G180C MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.G180C|MAGI1_ENST00000402939.2_Missense_Mutation_p.G180C|MAGI1_ENST00000483466.1_Missense_Mutation_p.G180C NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 180 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding p.G180C(4) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCATAGGTGCCGACTTCCAGA 0.498000 36 75 9.65963e-10 1.1443e-09 0.183431 1 0 TTC37 9652 broad.mit.edu 37 5 94818288 94818288 + Silent SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:94818288T>C ENST00000358746.2 - 39 4399 c.4101A>G c.(4099-4101)agA>agG p.R1367R NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1367 binding p.R1367R(2) breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ACTGAACTTGTCTCAAAAGTA 0.388000 21 20 0 0 0.062417 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551855 58551855 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:58551855G>T ENST00000282326.1 + 4 655 c.408G>T c.(406-408)tgG>tgT p.W136C NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 136 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.W136C(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCAGGACTGGAGTTTCGGTG 0.622000 160 343 5.10563e-82 8.19028e-82 0.139131 1 0 SPTA1 6708 broad.mit.edu 37 1 158627290 158627290 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:158627290C>T ENST00000368148.3 - 19 2962 c.2782G>A c.(2782-2784)Ggt>Agt p.G928S SPTA1_ENST00000368147.3_Missense_Mutation_p.G928S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 928 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.G928S(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCATCAGCACCATAGTTAGTA 0.438000 28 53 0 0 0.108266 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 4 32 0 0 0.150653 0 0 ASXL3 80816 broad.mit.edu 37 18 31323885 31323885 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr18:31323885T>C ENST00000269197.5 + 12 4073 c.4073T>C c.(4072-4074)gTc>gCc p.V1358A NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.V1358A(2) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTAGCTCTGTCTTGATTCCC 0.473000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 143 319 0 0 0.139131 0 0 CSMD1 64478 broad.mit.edu 37 8 2944626 2944626 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr8:2944626G>T ENST00000602557.1 - 50 8025 c.7470C>A c.(7468-7470)ctC>ctA p.L2490L CSMD1_ENST00000542608.1_Silent_p.L2489L|CSMD1_ENST00000520002.1_Silent_p.L2490L|CSMD1_ENST00000537824.1_Silent_p.L2489L|CSMD1_ENST00000602723.1_Silent_p.L2490L|CSMD1_ENST00000400186.3_Silent_p.L2490L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2490 Sushi 14. integral to membrane p.L2218L(2)|p.L2489L(2) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TACCCTGGCAGAGTGGCGTGA 0.453000 19 22 1.01871e-10 1.23529e-10 0.049695 1 0 TAOK2 9344 broad.mit.edu 37 16 29996668 29996668 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:29996668G>T ENST00000308893.4 + 14 2600 c.1557G>T c.(1555-1557)gaG>gaT p.E519D TAOK2_ENST00000543033.1_Missense_Mutation_p.E519D|TAOK2_ENST00000416441.2_Missense_Mutation_p.E346D|TAOK2_ENST00000279394.3_Missense_Mutation_p.E519D NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 519 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.E519D(2) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 AACGGGAGGAGCACAGTGCAC 0.672000 33 53 7.11191e-15 9.44167e-15 0.173368 1 0 ZNF43 7594 broad.mit.edu 37 19 21991491 21991491 + Nonsense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:21991491C>A ENST00000594012.1 - 7 1844 c.1330G>T c.(1330-1332)Gga>Tga p.G444* ZNF43_ENST00000595461.1_Nonsense_Mutation_p.G444*|ZNF43_ENST00000354959.4_Nonsense_Mutation_p.G450*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.G444* NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G450L(2) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGTTTCTCTCCAGTATGAATT 0.383000 20 36 5.26018e-13 6.6399e-13 0.062417 1 0 GSDMB 55876 broad.mit.edu 37 17 38066035 38066035 + Nonsense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr17:38066035G>A ENST00000394175.2 - 3 773 c.550C>T c.(550-552)Cag>Tag p.Q184* GSDMB_ENST00000394179.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000309481.7_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000360317.3_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000520542.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000418519.1_Nonsense_Mutation_p.Q184* NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 184 cytoplasm p.Q184*(4) breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 AGATGGCCCTGAGAGATCTGG 0.532000 63 143 0 0 0.139131 0 0 ANKRD24 170961 broad.mit.edu 37 19 4216959 4216959 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:4216959C>A ENST00000600132.1 + 18 2078 c.1802C>A c.(1801-1803)cCc>cAc p.P601H ANKRD24_ENST00000318934.4_Missense_Mutation_p.P601H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.P691H NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 601 p.P691H(1)|p.P467H(1)|p.P601H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GAAACAAAACCCACAGGGGCT 0.567000 20 23 1.56452e-12 1.95883e-12 0.043863 1 0 PTPRD 5789 broad.mit.edu 37 9 8528763 8528763 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr9:8528763C>A ENST00000381196.4 - 12 912 c.369G>T c.(367-369)agG>agT p.R123S PTPRD_ENST00000397611.3_Missense_Mutation_p.R123S|PTPRD_ENST00000537002.1_Missense_Mutation_p.R123S|PTPRD_ENST00000360074.4_Missense_Mutation_p.R123S|PTPRD_ENST00000463477.1_Missense_Mutation_p.R123S|PTPRD_ENST00000540109.1_Missense_Mutation_p.R123S|PTPRD_ENST00000358503.5_Missense_Mutation_p.R123S|PTPRD_ENST00000397617.3_Missense_Mutation_p.R123S|PTPRD_ENST00000397606.3_Missense_Mutation_p.R123S|PTPRD_ENST00000356435.5_Missense_Mutation_p.R123S|PTPRD_ENST00000486161.1_Missense_Mutation_p.R123S|PTPRD_ENST00000355233.5_Missense_Mutation_p.R123S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 123 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R123S(8) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAGGGAAGCCCCTGGGAATTT 0.468000 TSP Lung(15;0.13) 9 38 1.08611e-07 1.22986e-07 0.080935 1 0 GART 2618 broad.mit.edu 37 21 34883584 34883584 + Silent SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr21:34883584A>G ENST00000381831.3 - 17 2552 c.2289T>C c.(2287-2289)atT>atC p.I763I GART_ENST00000543717.1_Silent_p.I315I|GART_ENST00000381815.4_Silent_p.I763I|GART_ENST00000381839.3_Silent_p.I763I NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 763 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.I763I(2) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CCACACTGCCAATCACCCAGG 0.453000 137 336 0 0 0.139131 0 0 PPM1B 5495 broad.mit.edu 37 2 44429147 44429147 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr2:44429147A>G ENST00000378551.2 + 2 1221 c.809A>G c.(808-810)aAt>aGt p.N270S PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Missense_Mutation_p.N270S|PPM1B_ENST00000409432.3_Missense_Mutation_p.N270S|PPM1B_ENST00000409895.4_Missense_Mutation_p.N270S|PPM1B_ENST00000378540.4_3'UTR NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 270 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity p.N270S(6) kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GACCTGGAAAATGTGTGCAAT 0.353000 15 44 0 0 0.049695 0 0 IL13RA2 3598 broad.mit.edu 37 X 114242517 114242517 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chrX:114242517C>A ENST00000371936.1 - 9 1224 c.975G>T c.(973-975)tgG>tgT p.W325C IL13RA2_ENST00000243213.1_Missense_Mutation_p.W325C Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 325 Fibronectin type-III 3. extracellular space|integral to membrane|soluble fraction cytokine receptor activity p.W325C(2) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 GTTTATCACTCCACTCACTCC 0.338000 16 16 9.16793e-09 1.04582e-08 0.160694 1 0 IQGAP2 10788 broad.mit.edu 37 5 75936794 75936794 + Nonsense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:75936794G>T ENST00000274364.6 + 17 2257 c.1960G>T c.(1960-1962)Gag>Tag p.E654* IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 654 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity p.E654*(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TTACATTCGTGAGAATATATG 0.408000 15 59 2.32078e-09 2.70758e-09 0.132662 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 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_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_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) 7 18 0.00448238 0.00460191 0.047766 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 4 57 0 0 0.047766 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 5 59 0 0 0.047766 0 0 INPPL1 3636 broad.mit.edu 37 11 71946219 71946219 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:71946219C>T ENST00000541756.1 + 22 2679 c.1749C>T c.(1747-1749)gtC>gtT p.V583V INPPL1_ENST00000538751.1_Silent_p.V583V|INPPL1_ENST00000298229.2_Silent_p.V825V O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 825 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding p.V825V(2) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGCTCACAGTCAAGTCCATGG 0.557000 56 97 0 0 0.139131 0 0 LAT 27040 broad.mit.edu 37 16 28996766 28996766 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:28996766G>A ENST00000395456.2 + 1 350 c.28G>A c.(28-30)Gtg>Atg p.V10M LAT_ENST00000354453.4_Missense_Mutation_p.V10M|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Missense_Mutation_p.V10M|LAT_ENST00000564277.1_Missense_Mutation_p.V10M|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Missense_Mutation_p.V10M|LAT_ENST00000395461.3_Missense_Mutation_p.V46M|LAT_ENST00000360872.5_Missense_Mutation_p.V10M NM_001014987.1|NM_001014988.1|NM_014387.3 NP_001014987.1|NP_001014988.1|NP_055202.1 O43561 LAT_HUMAN linker for activation of T cells 10 calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity p.V10M(2) large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) GGTCCCCTGCGTGCTGGGGCT 0.637000 39 94 0 0 0.098360 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958720 57958720 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:57958720G>A ENST00000311591.3 + 1 815 c.758G>A c.(757-759)gGc>gAc p.G253D NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G253D(2) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CTTTTCTTTGGCACCCTCATC 0.577000 59 102 0 0 0.139131 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 6 43 0 0 0.021553 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 48 0 0 0.014758 0 0 SPAG17 200162 broad.mit.edu 37 1 118554977 118554977 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:118554977C>A ENST00000336338.5 - 30 4371 c.4306G>T c.(4306-4308)Gac>Tac p.D1436Y NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1436 cilium|flagellar axoneme|microtubule p.D1436Y(2) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACAACTTTGTCTTCTCGAGTT 0.378000 23 57 6.44725e-10 7.69672e-10 0.069288 1 0 CDH20 28316 broad.mit.edu 37 18 59157904 59157904 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr18:59157904C>A ENST00000262717.4 + 2 516 c.118C>A c.(118-120)Caa>Aaa p.Q40K CDH20_ENST00000538374.1_Missense_Mutation_p.Q40K|CDH20_ENST00000536675.2_Missense_Mutation_p.Q40K Q9HBT6 CAD20_HUMAN cadherin 20, type 2 40 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Q40K(2) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CCCAACACCACAAGGTGAATT 0.512000 13 110 0.00010058 0.000106091 0.093190 1 0 CYP4F3 4051 broad.mit.edu 37 19 15758117 15758117 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:15758117A>T ENST00000221307.7 + 5 556 c.508A>T c.(508-510)Agt>Tgt p.S170C CYP4F3_ENST00000586182.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.S170C NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 170 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.S170C(2) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TTTCAATGAGAGTGTGAACAT 0.502000 77 147 0 0 0.139131 0 0 GLUD2 2747 broad.mit.edu 37 X 120182374 120182374 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chrX:120182374G>T ENST00000328078.1 + 1 913 c.836G>T c.(835-837)gGg>gTg p.G279V NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 279 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding p.G279L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) GTCTTCCATGGGATTGAAAAC 0.433000 69 67 8.3131e-28 1.23098e-27 0.139131 1 0 FAM188B 84182 broad.mit.edu 37 7 30821598 30821598 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr7:30821598G>T ENST00000265299.6 + 3 266 c.189G>T c.(187-189)aaG>aaT p.K63N INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 63 p.K63N(2) endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GATAGGCAAAGGAAAATCCTC 0.363000 20 46 2.37509e-13 3.04803e-13 0.055883 1 0 GEM 2669 broad.mit.edu 37 8 95272446 95272446 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr8:95272446C>A ENST00000297596.2 - 2 550 c.286G>T c.(286-288)Gca>Tca p.A96S GEM_ENST00000396194.2_Missense_Mutation_p.A96S NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 96 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding p.A96S(2) endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGCACACCTGCAAAGATGTTG 0.592000 67 147 1.23106e-19 1.70795e-19 0.139131 1 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600154 28600154 + RNA SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr15:28600154T>A ENST00000568624.1 - 0 342 CTTCTGTTCCTATAGAAAGAG 0.557000 11 56 0 0 0.119110 0 0 KIF2B 84643 broad.mit.edu 37 17 51902309 51902309 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr17:51902309G>T ENST00000268919.4 + 1 2071 c.1915G>T c.(1915-1917)Gcc>Tcc p.A639S NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 639 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.A639S(2) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTTTTGCATTGCCCGGTCTTT 0.448000 32 79 1.39806e-14 1.84018e-14 0.134883 1 0 ELL2 22936 broad.mit.edu 37 5 95224622 95224622 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:95224622T>C ENST00000237853.4 - 12 2225 c.1876A>G c.(1876-1878)Agg>Ggg p.R626G ELL2_ENST00000431061.2_Missense_Mutation_p.R376G NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 626 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex p.R626G(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) CCTATTAGCCTTTTGATGTGA 0.343000 3 30 0 0 0.150653 0 0 CDK1 983 broad.mit.edu 37 10 62544479 62544479 + Silent SNP G G C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr10:62544479G>C ENST00000448257.2 + 3 255 c.54G>C c.(52-54)gtG>gtC p.V18V CDK1_ENST00000373809.2_Silent_p.V18V|CDK1_ENST00000395284.3_Silent_p.V18V|CDK1_ENST00000316629.4_Silent_p.V18V P06493 CDK1_HUMAN cyclin-dependent kinase 1 18 Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity p.V18V(2) ovary(1) 1 ATGGAGTTGTGTATAAGGGTA 0.383000 37 68 0 0 0.183431 0 0 OR6C65 403282 broad.mit.edu 37 12 55794443 55794443 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:55794443T>A ENST00000379665.2 + 1 230 c.131T>A c.(130-132)aTt>aAt p.I44N NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I44N(2) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 ATGATCATCATTATGTTAACA 0.308000 11 25 0 0 0.069234 0 0 ATP7B 540 broad.mit.edu 37 13 52534313 52534313 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr13:52534313T>C ENST00000242839.4 - 7 2248 c.2092A>G c.(2092-2094)Atc>Gtc p.I698V ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.I698V|ATP7B_ENST00000448424.2_Missense_Mutation_p.I698V|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.I587V NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 698 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding p.I698V(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ATAAAGAAGATGAGATTTAGA 0.478000 Wilson disease 25 73 0 0 0.099896 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5522564 5522564 + Silent SNP A A C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr9:5522564A>C ENST00000397747.3 + 2 266 c.18A>C c.(16-18)ctA>ctC p.L6L PDCD1LG2_ENST00000397745.2_Silent_p.L6L NM_025239.3 NP_079515.2 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 6 immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity p.L6L(1) large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) TCCTCCTGCTAATGTTGAGCC 0.443000 8 176 0 0 0.038147 0 0 NOL4 8715 broad.mit.edu 37 18 31523045 31523045 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr18:31523045C>A ENST00000261592.5 - 9 1823 c.1526G>T c.(1525-1527)cGt>cTt p.R509L NOL4_ENST00000538587.1_Missense_Mutation_p.R435L|NOL4_ENST00000535384.1_Missense_Mutation_p.R224L|NOL4_ENST00000535475.1_Missense_Mutation_p.R290L|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 509 nucleolus RNA binding p.R509L(2) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCTCTCCAGACGCATCCTCTT 0.443000 17 30 5.3912e-06 5.80591e-06 0.175082 1 0 MMP1 4312 broad.mit.edu 37 11 102667829 102667829 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:102667829G>T ENST00000315274.6 - 3 482 c.415C>A c.(415-417)Caa>Aaa p.Q139K WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 139 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.Q139K(2) breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CTCCAGAGTTGGAAGGCTTTC 0.423000 50 80 1.08114e-33 1.66496e-33 0.139131 1 0 ZNF43 7594 broad.mit.edu 37 19 21991490 21991490 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:21991490C>A ENST00000594012.1 - 7 1845 c.1331G>T c.(1330-1332)gGa>gTa p.G444V ZNF43_ENST00000595461.1_Missense_Mutation_p.G444V|ZNF43_ENST00000354959.4_Missense_Mutation_p.G450V|ZNF43_ENST00000598381.1_Missense_Mutation_p.G444V NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G450L(2) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGGTTTCTCTCCAGTATGAAT 0.383000 20 36 5.26018e-13 6.6399e-13 0.062417 1 0 XPO7 23039 broad.mit.edu 37 8 21853061 21853061 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr8:21853061G>T ENST00000434536.1 + 21 2425 c.2323G>T c.(2323-2325)Gcc>Tcc p.A775S XPO7_ENST00000252512.9_Missense_Mutation_p.A766S|XPO7_ENST00000433566.4_Missense_Mutation_p.A767S Q9UIA9 XPO7_HUMAN exportin 7 766 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity p.A766S(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CCATGATCCAGCCTGTACTAC 0.448000 13 28 0.000219431 0.000228327 0.119110 1 0 PROX1-AS1 100505832 broad.mit.edu 37 1 214150167 214150168 + RNA DEL AC AC - rs72087575 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:214150167_214150168delAC ENST00000601744.1 - 0 111 PROX1-AS1_ENST00000451396.2_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000598091.1_RNA TTCTGTGTATacacacacacac 0.421 2 4 --- --- --- --- OR2M3 127062 broad.mit.edu 37 1 248367162 248367162 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:248367162delG ENST00000456743.1 + 1 831 c.793delG c.(793-795)atfs p.D265fs NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCCACATCTGATCGCTCCCC 0.502 54 128 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 6 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 7 13 --- --- --- --- GNS 2799 broad.mit.edu 37 12 65152963 65152968 + In_Frame_Del DEL CCAGCA CCAGCA - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:65152963_65152968delCCAGCA ENST00000258145.3 - 1 259_264 c.89_94delTGCTGG c.(88-96)ggc>g p.VLG30del GNS_ENST00000542058.1_In_Frame_Del_p.VLG30del|GNS_ENST00000543646.1_In_Frame_Del_p.VLG30del NM_002076.3 NP_002067.1 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase 30 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4) 15 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) AGGCAGCCGCCCAGCACCAGCAGTAG 0.723 3 4 --- --- --- --- MAGEL2 54551 broad.mit.edu 37 15 23889920 23889920 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:23889920delG ENST00000532292.1 - 1 1255 c.1161delC c.(1159-1161)ccfs p.P387fs NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ACACAACTACGGGCAGAGAGC 0.642 22 77 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93489385 93489389 + Frame_Shift_Del DEL ATTGC ATTGC - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:93489385_93489389delATTGC ENST00000394196.4 + 12 2384_2388 c.1316_1320delATTGC c.(1315-1320)afs p.NC439fs CHD2_ENST00000420239.2_Frame_Shift_Del_p.NC439fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.NC439fs|CHD2_ENST00000536619.1_Frame_Shift_Del_p.NC452fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 439 Chromo 2. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAATTCCAGAATTGCATTGACAGCT 0.429 36 110 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15726721 15726722 + RNA INS - - ACTCACTCATTCCTCTGATC rs148338083 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:15726721_15726722insACTCACTCATTCCTCTGATC ENST00000441682.2 + 0 262 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 ACGGCAGAGAAactcactcatt 0.559 7 26 --- --- --- --- OR11H1 81061 broad.mit.edu 37 22 16449040 16449040 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr22:16449040delG ENST00000252835.4 - 1 765 c.765delC c.(763-765)acfs p.T255fs NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) GAGACCCACAGGTAGAGAAGG 0.443 32 62 --- --- --- --- C1orf127 148345 broad.mit.edu 37 1 11008412 11008413 + Frame_Shift_Ins INS - - C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:11008412_11008413insC ENST00000377004.4 - 12 1778_1779 c.1779_1780insG c.(1777-1782)agcctgfs p.SL593fs C1orf127_ENST00000377008.4_Frame_Shift_Ins_p.SL426fs NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 444 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GCCCGCCAGGGCCTCGCCAATG 0.658 8 223 --- --- --- --- CROCCP2 84809 broad.mit.edu 37 1 16953827 16953828 + RNA INS - - C rs57007114 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:16953827_16953828insC ENST00000412962.1 - 0 477 TCACTTTCCTGCCCGAACCTCC 0.609 7 71 --- --- --- --- TOE1 114034 broad.mit.edu 37 1 45808763 45808764 + Frame_Shift_Ins INS - - G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:45808763_45808764insG ENST00000372090.5 + 8 1505_1506 c.922_923insG c.(922-924)gtgfs p.V308fs TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Frame_Shift_Ins_p.V228fs NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 308 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) GGCTTATGGCTGGTGCCCCCTG 0.569 7 406 --- --- --- --- LINC00466 199899 broad.mit.edu 37 1 63732706 63732707 + RNA DEL GG GG - rs150125125 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:63732706_63732707delGG ENST00000455304.2 - 0 191 agggggaagaggaggaggagaa 0.550 2 4 --- --- --- --- CELSR2 1952 broad.mit.edu 37 1 109792735 109792736 + In_Frame_Ins INS - - CGC rs145548198 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:109792735_109792736insCGC ENST00000271332.3 + 1 95_96 c.34_35insCGC c.(34-36)gcc>CGCgcc p.11_12insR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 11 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCCCCTCCCAACgccgccgccg 0.752 9 18 --- --- --- --- OR2M3 127062 broad.mit.edu 37 1 248367162 248367162 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr1:248367162delG ENST00000456743.1 + 1 831 c.793delG c.(793-795)atfs p.D265fs NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCCACATCTGATCGCTCCCC 0.502 54 128 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr2:233243529_233243531delTGC ENST00000392027.2 + 1 286_288 c.17_19delTGC c.(16-21)atg>a p.ML6del NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 6 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGCCCTGCAtgctgctgctgct 0.616 7 157 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 252 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 6 --- --- --- --- PLSCR1 5359 broad.mit.edu 37 3 146246596 146246597 + Frame_Shift_Ins INS - - T rs78850778 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr3:146246596_146246597insT ENST00000342435.4 - 4 526_527 c.116_117insA c.(115-117)tccfs p.S39fs PLSCR1_ENST00000487389.1_Frame_Shift_Ins_p.S32fs|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 39 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 GGGGCCCAGGGTAGCCACTATA 0.500 7 106 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 3 4 --- --- --- --- RGS3 5998 broad.mit.edu 37 9 116356323 116356323 + Frame_Shift_Del DEL T T - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr9:116356323delT ENST00000462403.1 + 1 558 c.124delT c.(124-126)ttfs p.F44fs RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 207 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCAGAAGGAATTTTTTTTTCC 0.622 9 744 --- --- --- --- PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT GT - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr9:133543701_133543702delGT ENST00000253008.2 + 3 630 c.e3+1 NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 10 162 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 7 22 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 10 45 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 8 549 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 10 753 --- --- --- --- GOLGA8DP 100132979 broad.mit.edu 37 15 22709277 22709278 + RNA INS - - A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr15:22709277_22709278insA ENST00000314246.8 - 0 1157 CTCTGGATTCCAaaaaaaaaag 0.515 13 192 --- --- --- --- MAGEL2 54551 broad.mit.edu 37 15 23889920 23889920 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr15:23889920delG ENST00000532292.1 - 1 1255 c.1161delC c.(1159-1161)ccfs p.P387fs NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ACACAACTACGGGCAGAGAGC 0.642 22 77 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93489385 93489389 + Frame_Shift_Del DEL ATTGC ATTGC - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr15:93489385_93489389delATTGC ENST00000394196.4 + 12 2384_2388 c.1316_1320delATTGC c.(1315-1320)afs p.NC439fs CHD2_ENST00000536619.1_Frame_Shift_Del_p.NC452fs|CHD2_ENST00000420239.2_Frame_Shift_Del_p.NC439fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.NC439fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 439 Chromo 2. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAATTCCAGAATTGCATTGACAGCT 0.429 36 110 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 43 555 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089303 61089303 + RNA DEL T T - rs80101907 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:61089303delT ENST00000591758.1 - 0 565 Cttcttcttcttttttttttt 0.244 7 12 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 6 5 --- --- --- --- ASXL3 80816 broad.mit.edu 37 18 31325623 31325624 + Frame_Shift_Ins INS - - G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr18:31325623_31325624insG ENST00000269197.5 + 12 5811_5812 c.5811_5812insG c.(5809-5814)gcccagfs p.Q1938fs NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1938 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGCCTGTGGCTGCCAGGGGCCC 0.525 9 161 --- --- --- --- CTD-2369P2.5 0 broad.mit.edu 37 19 10377497 10377498 + RNA INS - - T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:10377497_10377498insT ENST00000592893.1 - 0 141 TTCCATAGCCCTTTTTTTTTCC 0.426 2 4 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 7 326 --- --- --- --- GNRH2 2797 broad.mit.edu 37 20 3026345 3026346 + Frame_Shift_Ins INS - - GCCCC rs67749149 by1000genomes TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr20:3026345_3026346insGCCCC ENST00000380347.2 + 3 710_711 c.305_306insGCCCC c.(304-306)gccfs p.A102fs GNRH2_ENST00000359100.2_Frame_Shift_Ins_p.A102fs|GNRH2_ENST00000380346.2_Frame_Shift_Ins_p.A101fs|GNRH2_ENST00000359987.1_Frame_Shift_Ins_p.A101fs|GNRH2_ENST00000245983.2_Frame_Shift_Ins_p.A109fs O43555 GON2_HUMAN gonadotropin-releasing hormone 2 109 multicellular organismal development|signal transduction extracellular region|soluble fraction hormone activity ovary(1)|upper_aerodigestive_tract(1) 2 GCAGCCCGAGAGCCCCGCCCCG 0.634 10 51 --- --- --- --- OR11H1 81061 broad.mit.edu 37 22 16449040 16449040 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 475ca4ed-a370-41ae-8032-f0d25b9afff8 g.chr22:16449040delG ENST00000252835.4 - 1 765 c.765delC c.(763-765)acfs p.T255fs NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) GAGACCCACAGGTAGAGAAGG 0.443 32 62 --- --- --- ---