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 TVP23C-CDRT4 100533496 broad.mit.edu 37 17 15457141 15457141 + Missense_Mutation SNP T T A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr17:15457141T>A ENST00000522212.2 - 3 210 c.98A>T c.(97-99)cAt>cTt p.H33L TVP23C_ENST00000225576.3_Missense_Mutation_p.H33L|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Missense_Mutation_p.H33L|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.H33L|TVP23C_ENST00000428082.2_Missense_Mutation_p.H33L NM_001204478.1 NP_001191407.1 TGCTACTGGATGTCTGAAAAC 0.378000 32 75 0 0 1 0 0 RBP4 5950 broad.mit.edu 37 10 95360770 95360770 + Missense_Mutation SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:95360770C>T ENST00000371467.1 - 2 335 c.16G>A c.(16-18)Gcg>Acg p.A6T RBP4_ENST00000371464.3_Missense_Mutation_p.A6T|RBP4_ENST00000371469.2_Intron|FFAR4_ENST00000604414.1_Intron P02753 RET4_HUMAN retinol binding protein 4, plasma 6 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) AGCAAGAGCGCCCACACCCAC 0.697000 17 34 0 0 1 0 0 FAR2P1 440905 broad.mit.edu 37 2 130798070 130798070 + RNA SNP T T C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr2:130798070T>C ENST00000325390.3 - 0 2340 NR_026758.1 GGCCTTGCTATAGGTCTAAGT 0.473000 4 8 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 5 24 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2131703 2131703 + Missense_Mutation SNP C C T rs137854353 TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr16:2131703C>T ENST00000219476.3 + 31 4348 c.3718C>T c.(3718-3720)Cgc>Tgc p.R1240C TSC2_ENST00000350773.4_Missense_Mutation_p.R1240C|TSC2_ENST00000439673.2_Missense_Mutation_p.R1160C|TSC2_ENST00000401874.2_Missense_Mutation_p.R1196C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1207C|TSC2_ENST00000353929.4_Missense_Mutation_p.R1197C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1148C NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1240 R -> W (in TSC2). cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GGCGGCTGAGCGCTTCAAGGA 0.627000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 4 54 0 0 1 0 0 MARS 4141 broad.mit.edu 37 12 57908512 57908512 + Missense_Mutation SNP G G A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr12:57908512G>A ENST00000262027.5 + 16 2111 c.1977G>A c.(1975-1977)atG>atA p.M659I MARS_ENST00000315473.5_Missense_Mutation_p.M425I NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 659 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GAGCTGGGATGTTTGTGTCTA 0.507000 8 243 0 0 1 0 0 RBMX 27316 broad.mit.edu 37 X 135961213 135961213 + Missense_Mutation SNP G G T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chrX:135961213G>T ENST00000562646.1 - 3 333 c.179C>A c.(178-180)gCa>gAa p.A60E RBMX_ENST00000565438.1_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 60 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CTTAGCGTCTGCTGGGCTTTC 0.383000 4 103 0.150653 0.150653 1 1 0 DIRC2 84925 broad.mit.edu 37 3 122545710 122545710 + Silent SNP A A G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr3:122545710A>G ENST00000261038.5 + 3 899 c.501A>G c.(499-501)ccA>ccG p.P167P NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 167 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) ATGCAGCACCATTTCTCTCTA 0.413000 10 68 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589813 140589813 + Missense_Mutation SNP A A G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr5:140589813A>G ENST00000239450.2 + 1 1523 c.1334A>G c.(1333-1335)aAt>aGt p.N445S PCDHB12_ENST00000541609.1_Missense_Mutation_p.N108S NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 445 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCGACGTCAATGACAACGCC 0.597000 6 81 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123663783 123663783 + Missense_Mutation SNP A A G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chrX:123663783A>G ENST00000422452.2 - 16 2765 c.2702T>C c.(2701-2703)cTa>cCa p.L901P TENM1_ENST00000371130.3_Missense_Mutation_p.L901P NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CACTCCCACTAGAGGAGTTCC 0.473000 3 66 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr18:14542693C>T ENST00000358970.5 - 1 452 c.453G>A c.(451-453)aaG>aaA p.K151K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 151 p.K151K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTCTGGGGACCTTACCCCACC 0.592000 4 107 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648781 62648781 + Silent SNP T T C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:62648781T>C ENST00000337910.5 - 6 982 c.645A>G c.(643-645)caA>caG p.Q215Q RHOBTB1_ENST00000357917.4_Silent_p.Q215Q NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 215 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) ATTTCCAGAATTGCAGGTGCC 0.478000 14 153 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99655137 99655137 + Missense_Mutation SNP G G A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:99655137G>A ENST00000370597.3 - 11 1706 c.1351C>T c.(1351-1353)Cgc>Tgc p.R451C CRTAC1_ENST00000370591.2_Missense_Mutation_p.R451C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R451C NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 451 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AACCGGGTGCGTGGCACCACT 0.632000 20 23 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132119 42132119 + Missense_Mutation SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr19:42132119C>T ENST00000221954.2 - 2 390 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 94 Ig-like V-type. integral to plasma membrane|membrane fraction p.A94T(1) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCACTGTATGCGGCCCCTGGG 0.488000 4 132 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261233 1261233 + Missense_Mutation SNP T T C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr16:1261233T>C ENST00000348261.5 + 22 4537 c.4289T>C c.(4288-4290)aTt>aCt p.I1430T CACNA1H_ENST00000358590.4_Missense_Mutation_p.I1430T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.I1430T NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1430 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CTCAGGCCCATTGGGAACATC 0.602000 4 72 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 382547 382547 + Silent SNP A A G rs146408628 TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr3:382547A>G ENST00000256509.2 + 6 1098 c.456A>G c.(454-456)ccA>ccG p.P152P CHL1_ENST00000397491.2_Silent_p.P152P NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 152 Ig-like C2-type 2. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTGTCCTCCCATGCAATCCTC 0.383000 21 29 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37598536 37598536 + Missense_Mutation SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr13:37598536C>T ENST00000360252.4 - 18 1623 c.1376G>A c.(1375-1377)gGt>gAt p.G459D SUPT20H_ENST00000350612.6_Missense_Mutation_p.G458D|SUPT20H_ENST00000464744.1_Missense_Mutation_p.G459D|SUPT20H_ENST00000542180.1_Missense_Mutation_p.G422D|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G458D|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G459D NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) ATGTTTTACACCCTTCCCCAA 0.378000 4 39 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55338716 55338716 + Missense_Mutation SNP G G C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr18:55338716G>C ENST00000536015.1 - 17 2035 c.1916C>G c.(1915-1917)aCa>aGa p.T639R RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T639R|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 639 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GGCATCCTGTGTTTCTTGCTT 0.398000 23 56 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159647583 159647583 + Missense_Mutation SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr6:159647583C>T ENST00000297267.9 + 9 1351 c.1151C>T c.(1150-1152)gCg>gTg p.A384V FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.A384V NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 384 Fibronectin type-III 4. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TCTTGGGATGCGCTACCAGAG 0.473000 3 10 0 0 1 0 0 CHMP4B 128866 broad.mit.edu 37 20 32436406 32436406 + Missense_Mutation SNP C C G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr20:32436406C>G ENST00000217402.2 + 2 489 c.324C>G c.(322-324)aaC>aaG p.N108K NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 108 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 TGCTCAAGAACATGGGCTATG 0.602000 5 31 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34408631 34408631 + Missense_Mutation SNP G G A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:34408631G>A ENST00000374789.3 - 24 3912 c.3587C>T c.(3586-3588)tCg>tTg p.S1196L PARD3_ENST00000545693.1_Missense_Mutation_p.S1180L|PARD3_ENST00000346874.4_Missense_Mutation_p.S1159L|PARD3_ENST00000545260.1_Missense_Mutation_p.S1106L|PARD3_ENST00000350537.4_Missense_Mutation_p.S1150L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1193L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1136L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1084L NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1196 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CACGGACACCGAGTGTCGCCC 0.612000 10 22 0 0 1 0 0 TDGF1 6997 broad.mit.edu 37 3 46620740 46620740 + Missense_Mutation SNP T T C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr3:46620740T>C ENST00000296145.5 + 3 840 c.107T>C c.(106-108)tTt>tCt p.F36S LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.F20S NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 36 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CATCAGGAATTTGCTCGTCCA 0.507000 9 47 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71491183 71491184 + Frame_Shift_Ins INS - - CCTAC TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr5:71491183_71491184insCCTAC ENST00000296755.7 + 5 2299_2300 c.2001_2002insCCTAC c.(1999-2004)acctatfs p.Y668fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 668 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AGGACAAAACACCTATCAAGaa 0.366 4 9 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 2 4 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494020 65494021 + In_Frame_Ins INS - - GCA rs34265378 TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr8:65494020_65494021insGCA ENST00000321870.1 + 1 1207_1208 c.673_674insGCA c.(673-675)cag>GCAcag p.224_225insA RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 224 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S234delS(1) NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 cggcagcggcggcagcagcagc 0.718 2 4 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 3 5 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 6 --- --- --- --- FECH 2235 broad.mit.edu 37 18 55253811 55253811 + Frame_Shift_Del DEL G G - TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr18:55253811delG ENST00000262093.5 - 1 193 c.42delC c.(40-42)gcfs p.A15fs FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Frame_Shift_Del_p.A15fs NM_000140.3|NM_001012515.2 NP_000131.2|NP_001012533.1 P22830 HEMH_HUMAN ferrochelatase 15 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) GGACGCCCGCGGCGCGCAGGG 0.756 2 4 --- --- --- ---