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 FAT2 2196 broad.mit.edu 37 5 150932752 150932752 + Missense_Mutation SNP C C G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr5:150932752C>G ENST00000261800.5 - 5 4154 c.4142G>C c.(4141-4143)tGg>tCg p.W1381S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1381 Cadherin 12. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATGTTGAACCAGAAGAGTCC 0.552000 27 43 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1545588 1545588 + Missense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr16:1545588G>A ENST00000262319.6 + 3 856 c.577G>A c.(577-579)Gtc>Atc p.V193I NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 193 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CGAGGAGGTCGTCCGGGTGCT 0.672000 31 48 0 0 1 0 0 KLRC1 3821 broad.mit.edu 37 12 10601988 10601988 + Splice_Site SNP C C A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr12:10601988C>A ENST00000544822.1 - 6 725 c.e6-1 KLRC1_ENST00000347831.5_Splice_Site|KLRC1_ENST00000408006.3_Splice_Site|KLRC1_ENST00000536188.1_Splice_Site|KLRC1_ENST00000359151.3_Splice_Site NM_213658.2 NP_998823.1 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, member 1 cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 CAATGACGTGCTAAATAAAGA 0.333000 4 237 0.00909568 0.00909568 1 1 0 TPSD1 23430 broad.mit.edu 37 16 1308192 1308192 + Missense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr16:1308192G>A ENST00000211076.3 + 4 801 c.653G>A c.(652-654)tGt>tAt p.C218Y TPSD1_ENST00000397534.2_Missense_Mutation_p.C211Y NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 218 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GACATGCTGTGTGCGGGGAGC 0.627000 10 28 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62300247 62300247 + Silent SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr11:62300247G>A ENST00000378024.4 - 5 1916 c.1642C>T c.(1642-1644)Cta>Tta p.L548L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 548 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GTTCCCTCTAGGTTTGGTGTC 0.507000 8 172 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11584134 11584134 + Missense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr17:11584134G>A ENST00000262442.3 + 19 3739 c.3671G>A c.(3670-3672)cGc>cAc p.R1224H DNAH9_ENST00000454412.2_Missense_Mutation_p.R1224H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1224 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACACTCCTCCGCCAGAGGTGC 0.532000 3 23 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39499514 39499514 + Missense_Mutation SNP T T C TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr2:39499514T>C ENST00000263881.3 - 26 2207 c.1883A>G c.(1882-1884)aAt>aGt p.N628S MAP4K3_ENST00000341681.5_Missense_Mutation_p.N607S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N181S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.N544S NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 628 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) CCCTGGTAAATTATGGGAATA 0.328000 4 100 0 0 1 0 0 RAB3IL1 5866 broad.mit.edu 37 11 61675752 61675752 + Missense_Mutation SNP G G T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr11:61675752G>T ENST00000394836.2 - 2 195 c.38C>A c.(37-39)cCg>cAg p.P13Q RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P60Q NM_013401.2 NP_037533.2 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 13 protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 AAGGGGCGGCGGGAGGCCCTG 0.677000 5 7 8.12818e-05 8.50624e-05 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92763468 92763468 + Missense_Mutation SNP T T C TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr7:92763468T>C ENST00000318238.4 - 5 3033 c.1817A>G c.(1816-1818)aAc>aGc p.N606S SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 606 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AATACTGTGGTTTGTTAGTTC 0.368000 4 128 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10435136 10435136 + Missense_Mutation SNP T T A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr17:10435136T>A ENST00000245503.5 - 22 2895 c.2511A>T c.(2509-2511)aaA>aaT p.K837N MYH2_ENST00000397183.2_Missense_Mutation_p.K837N|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 837 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGAAGAAGAGTTTCATCCAGG 0.403000 5 158 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11684410 11684410 + Missense_Mutation SNP A A G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr17:11684410A>G ENST00000262442.3 + 39 7705 c.7637A>G c.(7636-7638)gAc>gGc p.D2546G DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2546 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTCATTGATGACATGAACATG 0.547000 4 40 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 4 133 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342504 60342504 + RNA SNP T T C TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr17:60342504T>C ENST00000581291.1 - 0 1649 breast(2)|kidney(1)|lung(2) 5 CAGTGCTGGGTGCACTGCAGG 0.637000 4 60 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135390519 135390519 + Missense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr5:135390519G>A ENST00000442011.2 + 10 1540 c.1379G>A c.(1378-1380)gGc>gAc p.G460D TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 460 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding p.G460D(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTGGGCGGCAAAAAACTG 0.423000 6 246 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136594247 136594247 + Silent SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr2:136594247G>A ENST00000264162.2 - 1 503 c.493C>T c.(493-495)Cta>Tta p.L165L NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 165 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATCCCAACTAGGTCCCCGAAG 0.577000 4 82 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67316416 67316416 + Missense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr16:67316416G>A ENST00000360461.5 + 9 3799 c.1264G>A c.(1264-1266)Gac>Aac p.D422N PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D422N|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D422N|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D341N NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 422 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GACGGCAATGGACAAGGCTGA 0.562000 7 54 0 0 1 0 0 RTF1 23168 broad.mit.edu 37 15 41769448 41769448 + Missense_Mutation SNP T T A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr15:41769448T>A ENST00000389629.4 + 13 1658 c.1646T>A c.(1645-1647)cTg>cAg p.L549Q NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 549 histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) GCAGAGGCCCTGGACCGCCAG 0.542000 14 125 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 7 78 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18888093 18888093 + Silent SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr19:18888093C>T ENST00000338797.6 + 15 1879 c.1854C>T c.(1852-1854)atC>atT p.I618I CRTC1_ENST00000594658.1_Silent_p.I561I|CRTC1_ENST00000321949.8_Silent_p.I602I|CRTC1_ENST00000601916.1_Silent_p.I360I NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 602 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 AACTCAAGATCGACCCCCTGA 0.642000 138 198 0 0 1 0 0 TMEM220 388335 broad.mit.edu 37 17 10628335 10628335 + Missense_Mutation SNP C C G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr17:10628335C>G ENST00000341871.3 - 4 744 c.280G>C c.(280-282)Gaa>Caa p.E94Q TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000455996.2_Missense_Mutation_p.E84Q|TMEM220_ENST00000578345.1_Missense_Mutation_p.E84Q NM_001004313.1 NP_001004313.1 Q6QAJ8 TM220_HUMAN transmembrane protein 220 94 integral to membrane kidney(1)|large_intestine(1)|lung(1)|prostate(2) 5 CACCTGCCTTCTTCCTCATGT 0.473000 9 130 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6024219 6024219 + Missense_Mutation SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr11:6024219C>T ENST00000330728.4 - 1 205 c.160G>A c.(160-162)Gca>Aca p.A54T NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGAGATGCCATGTAAAGT 0.473000 20 35 0 0 1 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49210376 49210376 + Silent SNP A A G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr3:49210376A>G ENST00000332780.2 + 2 383 c.174A>G c.(172-174)acA>acG p.T58T KLHDC8B_ENST00000476495.2_3'UTR NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 58 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCTCGCACACATGGCTGGCAC 0.652000 5 51 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 37 53 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34473715 34473715 + Silent SNP A A G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr11:34473715A>G ENST00000241052.4 + 4 530 c.441A>G c.(439-441)ggA>ggG p.G147G NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 147 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) ATCTCGTTGGAAATAACACCC 0.403000 26 58 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500387 90500387 + Missense_Mutation SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr9:90500387C>T ENST00000325643.5 + 4 1051 c.985C>T c.(985-987)Cgg>Tgg p.R329W NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 ATCCCAGCCACGGCATCTTCC 0.617000 15 11 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135378959 135378959 + Missense_Mutation SNP C C G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr7:135378959C>G ENST00000354042.4 - 10 1733 c.1044G>C c.(1042-1044)aaG>aaC p.K348N NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 348 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 TCTTCTTCTTCTTGCTCAGAG 0.393000 6 126 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1057960 1057960 + Missense_Mutation SNP G G A rs141237099 by1000genomes TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr19:1057960G>A ENST00000263094.6 + 36 5158 c.4927G>A c.(4927-4929)Gtg>Atg p.V1643M ABCA7_ENST00000435683.2_Missense_Mutation_p.V1505M|ABCA7_ENST00000433129.1_Missense_Mutation_p.V1643M NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1643 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCTTCTCCGTGCCCAGCAC 0.522000 4 142 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166010994 166010994 + Missense_Mutation SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr2:166010994C>T ENST00000360093.3 - 11 1839 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K SCN3A_ENST00000409101.3_Missense_Mutation_p.E450K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E450K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 450 voltage-gated sodium channel complex voltage-gated sodium channel activity p.E450K(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTAAGCTGTTCGAGCATCTGC 0.403000 5 82 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608365 84608365 + Missense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr9:84608365G>A ENST00000344803.2 + 4 3027 c.2980G>A c.(2980-2982)Gtc>Atc p.V994I NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTCACCTGTCGTCCAAGAAGG 0.502000 73 99 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985023 36985023 + Missense_Mutation SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr5:36985023C>T ENST00000282516.8 + 10 2240 c.1741C>T c.(1741-1743)Ctt>Ttt p.L581F NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.L581F NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 581 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGTTTCTGTTCTTCAGGAAGA 0.388000 8 90 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107350576 107350576 + Missense_Mutation SNP C C A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr7:107350576C>A ENST00000265715.3 + 19 2391 c.2167C>A c.(2167-2169)Cat>Aat p.H723N SLC26A4_ENST00000544569.1_Missense_Mutation_p.H310N|SLC26A4_ENST00000541474.1_Missense_Mutation_p.H284N|SLC26A4_ENST00000543100.1_Missense_Mutation_p.H292N NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 723 STAS. H -> R (in DFNB4 and PDS; common mutation in Korea and Japan). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TTTGACGGTCCATGATGCTAT 0.368000 Pendred syndrome 4 83 0.00909568 0.00909568 1 1 0 DENND3 22898 broad.mit.edu 37 8 142178542 142178542 + Silent SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr8:142178542C>T ENST00000519811.1 + 13 2263 c.2193C>T c.(2191-2193)ggC>ggT p.G731G DENND3_ENST00000424248.1_Silent_p.G599G|DENND3_ENST00000262585.2_Silent_p.G651G A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 651 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TGCAGCTGGGCGACTTCATGA 0.587000 32 51 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36972046 36972046 + Splice_Site SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr5:36972046G>A ENST00000282516.8 + 8 1270 c.e8-1 NIPBL_ENST00000504430.1_Splice_Site|NIPBL_ENST00000448238.2_Splice_Site NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TCTATTTTTAGGATGGAGATT 0.378000 9 45 0 0 1 0 0 GINM1 116254 broad.mit.edu 37 6 149900982 149900982 + Missense_Mutation SNP G G T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr6:149900982G>T ENST00000367419.5 + 5 563 c.442G>T c.(442-444)Gat>Tat p.D148Y NM_138785.3 NP_620140.1 glycoprotein integral membrane 1 TCAGCAAAAGGATGTCACTGA 0.333000 6 27 3.59834e-05 3.85536e-05 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 3 27 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481238 228481238 + Silent SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr1:228481238C>T ENST00000570156.2 + 46 12413 c.12339C>T c.(12337-12339)cgC>cgT p.R4113R OBSCN_ENST00000284548.11_Silent_p.R3684R|OBSCN_ENST00000422127.1_Silent_p.R3684R|OBSCN_ENST00000366709.4_Silent_p.R803R|OBSCN_ENST00000366707.4_Silent_p.R803R|OBSCN_ENST00000359599.6_Silent_p.R2531R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3155 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGCAGATCCGCGGCCTCGTGG 0.637000 26 78 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131476803 131476803 + Missense_Mutation SNP C C A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr12:131476803C>A ENST00000261654.5 + 8 1391 c.832C>A c.(832-834)Ccc>Acc p.P278T RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.P310T NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 278 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGCCTACCATCCCATCATAAC 0.403000 15 237 4.14922e-12 4.55402e-12 1 1 0 OR2W3 343171 broad.mit.edu 37 1 248059036 248059036 + Missense_Mutation SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr1:248059036C>T ENST00000537741.1 + 3 405 c.148C>T c.(148-150)Cgg>Tgg p.R50W OR2W3_ENST00000360358.3_Missense_Mutation_p.R50W Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCTGGTGTCCCGGCTGGACCC 0.587000 18 128 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112496653 112496653 + Missense_Mutation SNP C C T TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr6:112496653C>T ENST00000230538.7 - 11 1616 c.1219G>A c.(1219-1221)Gaa>Aaa p.E407K LAMA4_ENST00000389463.4_Missense_Mutation_p.E400K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E400K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E400K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 407 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCATGCTCTTCCCCATAATAG 0.468000 77 102 0 0 1 0 0 SNX6 58533 broad.mit.edu 37 14 35074873 35074873 + Silent SNP T T C TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr14:35074873T>C ENST00000362031.4 - 5 387 c.357A>G c.(355-357)ctA>ctG p.L119L SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR NM_152233.2 NP_689419.2 Q9UNH7 SNX6_HUMAN sorting nexin 6 107 PX. cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi cytoplasmic vesicle membrane|early endosome membrane|nucleus phosphatidylinositol binding|protein homodimerization activity endometrium(4)|lung(1)|ovary(1) 6 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.0245) CAAGCTTCTGTAGTTTTTCCC 0.363000 6 56 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125831672 125831672 + Nonsense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr3:125831672G>A ENST00000393434.2 - 19 2483 c.2134C>T c.(2134-2136)Cga>Tga p.R712* ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712* NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 712 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) ACAAAGAGTCGGCCTGCTGCA 0.557000 9 78 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171695 207171695 + Missense_Mutation SNP G G A TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr2:207171695G>A ENST00000374423.3 + 5 2829 c.2443G>A c.(2443-2445)Gtt>Att p.V815I NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 815 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GGAAGAAACTGTTGATCTGGA 0.348000 5 55 0 0 1 0 0 UTP15 84135 broad.mit.edu 37 5 72866466 72866466 + Silent SNP C C G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr5:72866466C>G ENST00000296792.4 + 6 858 c.603C>G c.(601-603)ctC>ctG p.L201L UTP15_ENST00000543251.1_Silent_p.L11L|UTP15_ENST00000508491.1_Silent_p.L182L NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 201 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) AGAGTGTTCTCTCCGTTGAGC 0.398000 11 102 0 0 1 0 0 DBI 1622 broad.mit.edu 37 2 120128319 120128319 + Frame_Shift_Del DEL G G - TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr2:120128319delG ENST00000542275.1 + 3 398 c.314delG c.(313-315)cgfs p.R105fs DBI_ENST00000535617.1_Frame_Shift_Del_p.R86fs|DBI_ENST00000535757.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000393103.2_Frame_Shift_Del_p.R45fs|DBI_ENST00000409094.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000355857.3_Frame_Shift_Del_p.R44fs|DBI_ENST00000311521.4_Frame_Shift_Del_p.R61fs NM_001178017.1 NP_001171488.1 P07108 ACBP_HUMAN diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) 44 transport benzodiazepine receptor binding|fatty-acyl-CoA binding kidney(1)|lung(4)|skin(1) 6 GTTTAAGAACGGCCCGGGATG 0.428 13 31 --- --- --- --- CC2D2A 57545 broad.mit.edu 37 4 15513005 15513007 + In_Frame_Del DEL GAA GAA - rs112367037 TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr4:15513005_15513007delGAA ENST00000424120.1 + 8 930_932 c.676_678delGAA c.(676-678)del p.E229del CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E229del Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 229 Poly-Glu. cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GGAGGAAGGGGAAGAAGAAGAAC 0.443 8 13 --- --- --- --- CPEB4 80315 broad.mit.edu 37 5 173380262 173380265 + Frame_Shift_Del DEL AGAT AGAT - TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr5:173380262_173380265delAGAT ENST00000265085.5 + 9 3403_3406 c.1949_1952delAGAT c.(1948-1953)gafs p.EI650fs CPEB4_ENST00000520867.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000522336.1_Frame_Shift_Del_p.EI260fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.EI633fs|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Frame_Shift_Del_p.EI243fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.EI625fs NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 650 RRM 2. nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGCATGGAGAGATAGATAAACGG 0.402 20 83 --- --- --- --- SLC39A7 7922 broad.mit.edu 37 6 33169301 33169301 + Frame_Shift_Del DEL C C - TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr6:33169301delC ENST00000374677.3 + 1 652 c.279delC c.(277-279)agfs p.S93fs SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.S93fs NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 93 His-rich. endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 ATGGCCATAGCCATGGCTACT 0.552 35 44 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 6 3 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 4 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58883399 58883400 + RNA INS - - T rs149794923 by1000genomes TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cde89bf-7a49-4ec1-8cbb-505e17a13016 4c85a4ba-ea92-4b99-9c08-0b4943620dc9 g.chr20:58883399_58883400insT ENST00000432910.1 + 0 332 NR_046099.1 ggaccgggaaacagatgcttac 0.569 3 6 --- --- --- ---