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 DNM1P46 0 broad.mit.edu 37 15 100341319 100341319 + RNA SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr15:100341319C>T ENST00000341853.1 - 0 327 NR_003260.1 TTTCCATTTGCCGCTCCAGCT 0.582000 4 68 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47198145 47198145 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr11:47198145C>T ENST00000524782.1 - 2 341 c.113G>A c.(112-114)aGc>aAc p.S38N ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000395449.3_5'UTR NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 38 Arf-GAP. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding p.S38N(1) breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GTACGTGATGCTGGCCCAACT 0.632000 3 57 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125591185 125591185 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr4:125591185G>A ENST00000504087.1 - 4 4284 c.3247C>T c.(3247-3249)Cgt>Tgt p.R1083C ANKRD50_ENST00000515641.1_Missense_Mutation_p.R904C NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1083 p.R1083C(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GCTGCAACACGCATAGCAGTG 0.418000 5 136 0 0 1 0 0 XRCC6 2547 broad.mit.edu 37 22 42059704 42059704 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr22:42059704C>T ENST00000359308.4 + 12 2370 c.1715C>T c.(1714-1716)aCg>aTg p.T572M XRCC6_ENST00000405506.1_Missense_Mutation_p.T522M|XRCC6_ENST00000405878.1_Missense_Mutation_p.T572M|XRCC6_ENST00000428575.2_Missense_Mutation_p.T439M|XRCC6_ENST00000360079.3_Missense_Mutation_p.T572M|XRCC6_ENST00000402580.3_Missense_Mutation_p.T531M P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 572 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding p.T572M(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 AGCAAGGGTACGCTGGGCAAG 0.562000 Non-homologous end-joining 33 128 0 0 1 0 0 HIST1H4K 8362 broad.mit.edu 37 6 27799301 27799301 + Missense_Mutation SNP G G C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr6:27799301G>C ENST00000357549.2 - 1 4 c.5C>G c.(4-6)tCt>tGt p.S2C NM_003541.2 NP_003532.1 P62805 H4_HUMAN histone cluster 1, H4k 2 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.S2C(1) breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1) 7 GCCGCGGCCAGACATGACGAG 0.592000 16 68 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71485847 71485847 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr14:71485847G>A ENST00000304743.2 + 12 3564 c.3118G>A c.(3118-3120)Gtc>Atc p.V1040I PCNX_ENST00000238570.5_Missense_Mutation_p.V1040I|PCNX_ENST00000439984.3_Missense_Mutation_p.V929I NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1040 integral to membrane p.V1040I(1) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTTCTGCCTCGTCATAGCCAG 0.423000 98 210 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196918732 196918732 + Missense_Mutation SNP G G A rs144596551 byFrequency TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr1:196918732G>A ENST00000367415.4 + 2 320 c.206G>A c.(205-207)cGc>cAc p.R69H CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 69 Sushi 1. extracellular region p.R69H(1) large_intestine(2)|ovary(1)|skin(3) 6 TTTTGGACTCGCATAACGTGC 0.393000 4 110 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917506 26917506 + Missense_Mutation SNP T T A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr14:26917506T>A ENST00000539517.2 - 5 1500 c.1183A>T c.(1183-1185)Acc>Tcc p.T395S NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S|NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 398 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding p.T395S(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TATCCATTGGTTGCAGCAGTA 0.522000 13 36 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104192139 104192139 + Silent SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr9:104192139G>A ENST00000374855.4 - 3 346 c.222C>T c.(220-222)atC>atT p.I74I ALDOB_ENST00000468981.2_5'UTR NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 74 I -> T (in HFI; affects proper folding). fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding p.I74I(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) TCACACCCCCGATGCTCTGGT 0.532000 94 247 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754889 54754889 + Silent SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr19:54754889T>C ENST00000450632.1 - 13 1823 c.1746A>G c.(1744-1746)agA>agG p.R582R LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 388 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCCATCTGTCTGTCCTCTT 0.597000 3 34 0 0 1 0 0 CCDC121 79635 broad.mit.edu 37 2 27850383 27850383 + Missense_Mutation SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr2:27850383T>C ENST00000324364.3 - 2 464 c.284A>G c.(283-285)aAt>aGt p.N95S ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S NM_024584.4 NP_078860.2 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 95 p.N95S(1) breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(172;0.155) GGATTGGATATTTTCCTTTTG 0.393000 158 322 0 0 1 0 0 AGFG1 3267 broad.mit.edu 37 2 228389506 228389506 + Missense_Mutation SNP A A C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr2:228389506A>C ENST00000310078.7 + 5 829 c.569A>C c.(568-570)cAg>cCg p.Q190P AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR NM_001135188.1|NM_004504.4 NP_001128660.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 190 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding p.Q190P(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 TCTCAAGGGCAGCAGCAGGAG 0.423000 57 194 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49755885 49755885 + Silent SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:49755885G>A ENST00000535833.1 - 10 4464 c.1014C>T c.(1012-1014)gcC>gcT p.A338A RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.A338A|GMPPB_ENST00000480687.1_3'UTR Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 338 Ig-like C2-type. heterophilic cell-cell adhesion integral to membrane p.A338A(1) endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CGTTGCCTATGGCCAAGCTGC 0.667000 9 34 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133799131 133799131 + Splice_Site SNP C C A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr9:133799131C>A ENST00000372338.4 - 4 1091 c.849_splice c.e4+1 p.T283_splice FIBCD1_ENST00000372337.2_Splice_Site_p.T125_splice|FIBCD1_ENST00000253018.4_Splice_Site_p.T125_splice|FIBCD1_ENST00000448616.1_Splice_Site_p.T283_splice NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 283 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding p.T283T(1) kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GGACACTCACCGTCCAGCCGC 0.682000 9 16 0.000442599 0.000463676 1 1 0 NF2 4771 broad.mit.edu 37 22 30035110 30035110 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr22:30035110C>T ENST00000338641.4 + 3 713 c.272C>T c.(271-273)cCa>cTa p.P91L NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 91 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.P91L(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 AAGGAAGAACCAGTCACCTTT 0.423000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 35 88 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110765384 110765384 + Silent SNP T T A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr12:110765384T>A ENST00000395494.2 + 7 1139 c.576T>A c.(574-576)gcT>gcA p.A192A ATP2A2_ENST00000539276.2_Silent_p.A219A|ATP2A2_ENST00000308664.6_Silent_p.A219A P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 219 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding p.A219A(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CTGGGAAAGCTATGGGAGTGG 0.468000 100 239 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128957923 128957923 + Missense_Mutation SNP A A C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr5:128957923A>C ENST00000274487.4 + 10 1779 c.1634A>C c.(1633-1635)aAt>aCt p.N545T CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 545 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N545T(2) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTACAAACAAATCCGCAGAGT 0.428000 28 70 0 0 1 0 0 RTCB 51493 broad.mit.edu 37 22 32794016 32794016 + Silent SNP A A G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr22:32794016A>G ENST00000216038.5 - 7 824 c.726T>C c.(724-726)gcT>gcC p.A242A RTCB_ENST00000451746.2_Intron NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase p.A242A(1) TTTTTTTAGCAGCATACTCAT 0.458000 45 136 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262494 45262494 + Silent SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr5:45262494C>T ENST00000303230.4 - 8 2259 c.2202G>A c.(2200-2202)ccG>ccA p.P734P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 734 Gln-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.P734P(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 cctgctgctgcggctgctgtt 0.652000 6 13 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7691147 7691147 + Nonsense_Mutation SNP C C A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr19:7691147C>A ENST00000358368.4 - 5 569 c.532G>T c.(532-534)Gag>Tag p.E178* XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175* NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 178 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 TCTGCACTCTCAGGACTCAGC 0.657000 Direct reversal of damage;Nucleotide excision repair (NER) 4 211 1 1 1 1 0 JAK1 3716 broad.mit.edu 37 1 65310466 65310466 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr1:65310466C>T ENST00000342505.4 - 16 2470 c.2222G>A c.(2221-2223)gGc>gAc p.G741D JAK1_ENST00000465376.1_5'UTR NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 741 Protein kinase 1. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.G741D(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AATGGGGATGCCGGGGTCACT 0.587000 Mis ALL 23 41 0 0 1 0 0 DDHD1 0 broad.mit.edu 37 14 53521264 53521264 + Missense_Mutation SNP A A G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr14:53521264A>G ENST00000357758.3 - 11 2512 c.2329T>C c.(2329-2331)Tca>Cca p.S777P DDHD1_ENST00000323669.5_Missense_Mutation_p.S777P|DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 777 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) GAGTCTTTTGATGTTTCAGAT 0.468000 4 176 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7787976 7787976 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr4:7787976G>A ENST00000420658.1 - 12 1747 c.1475C>T c.(1474-1476)gCc>gTc p.A492V AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 492 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GCTGGGGTGGGCATAGCCGTT 0.493000 4 218 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20846220 20846220 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr14:20846220G>A ENST00000262715.5 - 39 5724 c.5684C>T c.(5683-5685)gCg>gTg p.A1895V TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1895 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CTGGCAACCCGCATGCAGGAA 0.592000 3 82 0 0 1 0 0 ZNF182 7569 broad.mit.edu 37 X 47837103 47837103 + Missense_Mutation SNP G G T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chrX:47837103G>T ENST00000396965.1 - 7 733 c.383C>A c.(382-384)aCa>aAa p.T128K ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K|ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T128K(1) endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 GGTGATAATTGTTTTCTTGTC 0.388000 6 63 2.0095e-06 2.13914e-06 1 1 0 SUPT5H 6829 broad.mit.edu 37 19 39965235 39965235 + Silent SNP G G T rs138311423 TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr19:39965235G>T ENST00000599117.1 + 29 3268 c.2901G>T c.(2899-2901)acG>acT p.T967T SUPT5H_ENST00000432763.2_Silent_p.T967T|SUPT5H_ENST00000598725.1_Silent_p.T967T|SUPT5H_ENST00000359191.6_Silent_p.T963T|SUPT5H_ENST00000402194.2_Silent_p.T963T O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 967 Pro-rich. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity p.T967T(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACCCACACACGCCAGGCTCAG 0.607000 OREG0025462 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 61 0.000602214 0.000621034 1 1 0 NKX3-1 4824 broad.mit.edu 37 8 23538909 23538909 + Missense_Mutation SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr8:23538909T>C ENST00000380871.4 - 2 567 c.530A>G c.(529-531)tAt>tGt p.Y177C NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 177 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding p.Y177C(2) large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) CTTAGTCTTATAGCGTCTGTT 0.582000 80 250 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51947198 51947198 + Silent SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr6:51947198G>A ENST00000371117.3 - 4 548 c.273C>T c.(271-273)tgC>tgT p.C91C PKHD1_ENST00000340994.4_Silent_p.C91C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 91 IPT/TIG 1; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.C91C(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACCTGGTCCGGCATGTCACCA 0.478000 4 294 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68682435 68682435 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr11:68682435C>T ENST00000255078.3 + 6 967 c.856C>T c.(856-858)Cgg>Tgg p.R286W NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 286 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding p.R286W(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGTTTTAGCGCGGAGCGACAG 0.597000 37 135 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101813486 101813486 + Silent SNP G G A rs145273103 TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr5:101813486G>A ENST00000506729.1 - 3 867 c.696C>T c.(694-696)ttC>ttT p.F232F SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F232F|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 232 integral to membrane|plasma membrane transporter activity p.F232F(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCCCAAGGATGAAGAAAGACA 0.383000 77 206 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87628819 87628819 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr10:87628819C>T ENST00000327946.7 - 6 984 c.899G>A c.(898-900)cGc>cAc p.R300H NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 300 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.R300H(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GGAGGAGATGCGGTGGTTGTT 0.567000 Multiple Myeloma(13;0.14) 41 55 0 0 1 0 0 COPS6 10980 broad.mit.edu 37 7 99686977 99686977 + Silent SNP C C G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr7:99686977C>G ENST00000303904.3 + 2 178 c.141C>G c.(139-141)gtC>gtG p.V47V COPS6_ENST00000418625.1_Silent_p.V46V NM_006833.4 NP_006824.2 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 47 MPN. cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding p.V47V(1) breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1) 12 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) ATCCCCTTGTCATTCTCAACA 0.592000 75 191 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182376434 182376434 + Silent SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr2:182376434T>C ENST00000397033.2 + 17 2284 c.1854T>C c.(1852-1854)ttT>ttC p.F618F NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 618 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.F618F(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGATAAACTTTGCAAGGTTTT 0.303000 62 181 0 0 1 0 0 GPR160 26996 broad.mit.edu 37 3 169802125 169802125 + Missense_Mutation SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:169802125T>C ENST00000355897.5 + 4 973 c.365T>C c.(364-366)cTg>cCg p.L122P NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 122 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GATTATTGCCTGAATTTCTCT 0.289000 3 101 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 100 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11744501 11744501 + Translation_Start_Site SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:11744501G>A ENST00000404339.1 - 0 358 VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.T3M(1) NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ATCCAATGGCGTCTCCATTCC 0.368000 11 44 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 1624710 1624710 + Silent SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr6:1624710G>A ENST00000380815.4 - 10 1322 c.1053C>T c.(1051-1053)ttC>ttT p.F351F GMDS_ENST00000530927.1_Silent_p.F321F|GMDS_ENST00000467288.2_5'UTR NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 351 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity p.F351F(1) GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TACTCACATCGAAAGCGACCC 0.667000 3 24 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34826505 34826505 + Nonsense_Mutation SNP C C G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr5:34826505C>G ENST00000265109.3 + 16 3007 c.2720C>G c.(2719-2721)tCa>tGa p.S907* RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878* NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 907 cell cortex|cytoskeleton protein binding p.S907*(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CTCTCCTACTCAACAAGCTCA 0.512000 28 67 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6709 6709 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chrM:6709G>A ENST00000361624.2 + 1 806 c.806G>A c.(805-807)gGa>gAa p.269_269insE mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 AGAACCATTTGGATACATAGG 0.393000 2 1 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147206 55147206 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr6:55147206G>A ENST00000370862.3 + 7 1625 c.1289G>A c.(1288-1290)aGc>aAc p.S430N NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 430 feeding behavior integral to plasma membrane neuropeptide receptor activity p.S430N(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACTAGCATAAGCACACTCCCA 0.408000 11 25 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432968 73432968 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:73432968G>A ENST00000263666.4 - 10 2863 c.2749C>T c.(2749-2751)Ccg>Tcg p.P917S PDZRN3_ENST00000479530.1_Missense_Mutation_p.P634S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P574S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P574S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P639S NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 917 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCCATGCGCGGCTCCGACGGG 0.652000 3 81 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158585065 158585065 + Silent SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr1:158585065G>A ENST00000368148.3 - 48 6909 c.6729C>T c.(6727-6729)gaC>gaT p.D2243D SPTA1_ENST00000368147.3_Silent_p.D2240D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2243 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.D2243D(1) 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) GGTAGAGCTGGTCCCACTGCT 0.542000 87 233 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113547892 113547892 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr9:113547892C>T ENST00000416899.2 + 11 1774 c.1648C>T c.(1648-1650)Ccg>Tcg p.P550S MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 558 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CCAGAGGATGCCGCTCCTTCT 0.498000 4 253 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 51 0 0 1 0 0 EEF1DP3 0 broad.mit.edu 37 13 32527029 32527029 + RNA SNP C C A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr13:32527029C>A ENST00000428783.1 + 0 729 TGCCCGGCCACTGGGCCACAG 0.642000 10 19 0.000673444 0.000683805 1 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643252 1643252 + Silent SNP A A G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr11:1643252A>G ENST00000399682.1 - 1 116 c.72T>C c.(70-72)tgT>tgC p.C24C NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 24 keratin filament p.C24C(5) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) agccagagccacagcccccac 0.687000 4 43 0 0 1 0 0 RP11-464F9.1 0 broad.mit.edu 37 10 75482316 75482316 + RNA SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr10:75482316G>A ENST00000399449.3 - 0 526 BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA CCCAAAGCTGGCATCTATAAG 0.428000 4 228 0 0 1 0 0 ANKRD20A11P 0 broad.mit.edu 37 21 15352131 15352131 + RNA SNP G G C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr21:15352131G>C ENST00000344693.5 - 0 627 NR_027270.1 p.S32W(1) CTGCAGTTCCGAGTACCGGAT 0.632000 7 15 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100172836 100172836 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr7:100172836G>A ENST00000310300.6 - 18 1998 c.1946C>T c.(1945-1947)gCc>gTc p.A649V LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 649 CH. nervous system development PML body protein binding p.A649V(1) NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGCGGTAGGGCCTTGCCCCC 0.697000 5 13 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9965490 9965490 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr19:9965490C>T ENST00000264833.4 - 6 922 c.737G>A c.(736-738)cGt>cAt p.R246H OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 246 Olfactomedin-like. extracellular region p.R246H(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 TCCCAGGGTACGGAACTCCAG 0.612000 6 23 0 0 1 0 0 PTK7 0 broad.mit.edu 37 6 43106701 43106701 + Missense_Mutation SNP A A G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr6:43106701A>G ENST00000230419.4 + 8 1564 c.1343A>G c.(1342-1344)aAc>aGc p.N448S PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.N448S|PTK7_ENST00000481273.1_Missense_Mutation_p.N456S|PTK7_ENST00000352931.2_Missense_Mutation_p.N448S NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 448 Ig-like C2-type 5. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TGGTACAGAAACCAGATGCTC 0.557000 3 110 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919410 52919410 + Missense_Mutation SNP G G T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr19:52919410G>T ENST00000360465.3 + 7 1731 c.1305G>T c.(1303-1305)aaG>aaT p.K435N ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K435N(1) breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) CTGATGAGAAGCCTTACAAAT 0.383000 37 114 1.07637e-12 1.16459e-12 1 1 0 RP11-13J8.1 0 broad.mit.edu 37 2 201967218 201967218 + RNA DEL G G - TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr2:201967218delG ENST00000448256.1 + 0 628 aaaaaaaaaagaaTTTGTTCT 0.463 4 6 --- --- --- --- IQCJ-SCHIP1 0 broad.mit.edu 37 3 158980372 158980373 + Frame_Shift_Ins INS - - G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:158980372_158980373insG ENST00000485419.1 + 4 360_361 c.191_192insG c.(190-192)cgafs p.R64fs IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.R64fs|IQCJ_ENST00000482126.1_Frame_Shift_Ins_p.R37fs|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.R37fs|IQCJ_ENST00000451172.1_Frame_Shift_Ins_p.R64fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 Ser-rich. cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CTGCAGCGGCAGGAGCCCCTGG 0.540 7 250 --- --- --- --- MBL1P 0 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 3 6 --- --- --- --- GDPD5 81544 broad.mit.edu 37 11 75152348 75152349 + Frame_Shift_Ins INS - - G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr11:75152348_75152349insG ENST00000526177.1 - 10 2796_2797 c.918_919insC c.(916-921)tacgtcfs p.V307fs GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Frame_Shift_Ins_p.V326fs|GDPD5_ENST00000529721.1_Frame_Shift_Ins_p.V445fs|GDPD5_ENST00000336898.3_Frame_Shift_Ins_p.V445fs|GDPD5_ENST00000533805.1_Frame_Shift_Ins_p.V200fs|GDPD5_ENST00000376282.3_Frame_Shift_Ins_p.V326fs Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 445 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 TTCCAGGACGCGTAGTCCCTGT 0.629 20 80 --- --- --- --- FMNL3 91010 broad.mit.edu 37 12 50041517 50041519 + In_Frame_Del DEL GGG GGG - TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr12:50041517_50041519delGGG ENST00000335154.5 - 23 2978_2980 c.2745_2747delCCC c.(2743-2748)tta>tt p.FP915del FMNL3_ENST00000352151.5_In_Frame_Del_p.FP864del|FMNL3_ENST00000550488.1_In_Frame_Del_p.FP914del|FMNL3_ENST00000293590.5_In_Frame_Del_p.FP915del NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 915 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 GACAAATACTGGGAAGAATACAG 0.512 17 92 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 49002387 49002389 + In_Frame_Del DEL CCT CCT - TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr19:49002387_49002389delCCT ENST00000600059.1 - 11 2164_2166 c.1937_1939delAGG c.(1936-1941)ggc>g p.EG646del LMTK3_ENST00000270238.3_In_Frame_Del_p.EG675del lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGGGAGCTGCCCTCCTCCTCCTC 0.739 2 4 --- --- --- --- NKX2-4 644524 broad.mit.edu 37 20 21377696 21377697 + Frame_Shift_Ins INS - - C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr20:21377696_21377697insC ENST00000351817.4 - 1 969_970 c.341_342insG c.(340-342)gctfs p.A114fs NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 114 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 TGTTGCCCAGGCCGCCGTTGCA 0.752 2 4 --- --- --- ---