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 MYOT 9499 broad.mit.edu 37 5 137222946 137222946 + Nonsense_Mutation SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr5:137222946C>T ENST00000239926.4 + 10 1743 c.1369C>T c.(1369-1371)Cga>Tga p.R457* RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Nonsense_Mutation_p.R342*|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Nonsense_Mutation_p.R273* NM_006790.2 NP_006781 Q9UBF9 MYOTI_HUMAN myotilin 457 Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GTTACGGGTTCGACCAACATT 0.393000 35 77 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 121 0 0 1 0 0 ZNF8 7554 broad.mit.edu 37 19 58806614 58806614 + Silent SNP T T C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr19:58806614T>C ENST00000196548.5 + 4 1571 c.1440T>C c.(1438-1440)tcT>tcC p.S480S AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Silent_p.S480S P17098 ZNF8_HUMAN zinc finger protein 8 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) TTCAGAGCTCTCACCTCATCC 0.557000 65 131 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 119 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302912 123302912 + Silent SNP T T C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr7:123302912T>C ENST00000458573.2 + 2 1429 c.1272T>C c.(1270-1272)ccT>ccC p.P424P LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 424 Pro-rich. cytoskeleton actin binding|tropomyosin binding ctcctcctcctccccctcctc 0.592000 3 4 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153751171 153751171 + Missense_Mutation SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr1:153751171G>A ENST00000271857.2 + 7 2600 c.1840G>A c.(1840-1842)Ggg>Agg p.G614R SLC27A3_ENST00000368661.3_Missense_Mutation_p.G533R|SLC27A3_ENST00000484014.1_3'UTR Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 533 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGGTGAGCCAGGGCTGCTGGT 0.637000 12 24 0 0 1 0 0 OR52W1 120787 broad.mit.edu 37 11 6220865 6220865 + Missense_Mutation SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr11:6220865C>T ENST00000311352.2 + 1 490 c.412C>T c.(412-414)Cct>Tct p.P138S NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGCACTACCCTGTCCTGGT 0.542000 21 22 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 4 41 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511870 195511870 + Missense_Mutation SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr3:195511870G>A ENST00000463781.3 - 2 7040 c.6581C>T c.(6580-6582)cCt>cTt p.P2194L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 983 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCGGTGACAGGAAGAGGGGT 0.592000 3 9 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538361 27538361 + RNA SNP C C A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr10:27538361C>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA AAGGTTCAATCTCTGTTGTGG 0.522000 66 124 5.10508e-28 6.52976e-28 1 1 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr11:534285C>A ENST00000417302.1 - 2 225 c.38G>T c.(37-39)gGt>gTt p.G13V HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 11 19 4.68919e-08 5.37303e-08 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105405446 105405446 + Missense_Mutation SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr14:105405446G>A ENST00000333244.5 - 7 16461 c.16342C>T c.(16342-16344)Cct>Tct p.P5448S AHNAK2_ENST00000557457.1_Missense_Mutation_p.P446S NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5448 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGGTCCACAGGCTGCTCCCCA 0.542000 4 12 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74975940 74975940 + Splice_Site SNP C C G TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr14:74975940C>G ENST00000261978.4 - 22 3790 c.e22+1 LTBP2_ENST00000556690.1_Splice_Site NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GAGGCTCATACCTTCACAGGA 0.647000 15 17 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61292465 61292465 + Silent SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr20:61292465G>A ENST00000217159.1 + 5 1264 c.1059G>A c.(1057-1059)aaG>aaA p.K353K SLCO4A1_ENST00000370507.1_Silent_p.K353K NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 353 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) ACCAGTTGAAGGACAGCAGCC 0.642000 12 36 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174119 51174119 + Missense_Mutation SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr16:51174119C>T ENST00000440970.1 - 2 2154 c.1723G>A c.(1723-1725)Gcc>Acc p.A575T SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.A672T NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 672 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGAAACTTGGCCTTGAACTGC 0.587000 23 32 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 140 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143123 56143123 + Silent SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr11:56143123G>A ENST00000302270.1 + 1 24 c.24G>A c.(22-24)caG>caA p.Q8Q NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) ATTGCACCCAGGCGACAGAGT 0.413000 9 13 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68229479 68229479 + Silent SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr14:68229479C>T ENST00000347230.4 - 33 6207 c.6069G>A c.(6067-6069)gtG>gtA p.V2023V ZFYVE26_ENST00000555452.1_Silent_p.V2023V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2023 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CCAAAGATGGCACGTGGCGAT 0.507000 14 31 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144106956 144106956 + Missense_Mutation SNP C C A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr4:144106956C>A ENST00000307017.4 + 1 859 c.353C>A c.(352-354)cCg>cAg p.P118Q USP38_ENST00000510377.1_Missense_Mutation_p.P118Q NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 118 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) ATGAGCTGTCCGTCGGTGCTG 0.572000 3 37 0.115264 0.117399 1 1 0 DCC 1630 broad.mit.edu 37 18 49867118 49867118 + Translation_Start_Site SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr18:49867118G>A ENST00000442544.2 + 0 577 NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) gagtgCTGCCGCTGCCCGCGA 0.577000 9 42 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56094269 56094269 + Missense_Mutation SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr2:56094269C>T ENST00000394555.2 - 11 1856 c.1421G>A c.(1420-1422)gGg>gAg p.G474E EFEMP1_ENST00000355426.3_Missense_Mutation_p.G474E|EFEMP1_ENST00000394554.1_Missense_Mutation_p.G474E|EFEMP1_ENST00000424836.2_Missense_Mutation_p.G336E NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 474 Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity p.G474E(1) NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCGGAAGGTCCCTATACTGCT 0.438000 34 69 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 77 0.00909568 0.00962043 1 1 0 DOK6 220164 broad.mit.edu 37 18 67345052 67345052 + Silent SNP C C A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr18:67345052C>A ENST00000382713.5 + 4 562 c.372C>A c.(370-372)ccC>ccA p.P124P DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 124 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TTGGGGAGCCCGACCTTCTGG 0.527000 15 29 2.32078e-09 2.77485e-09 1 1 0 BRCA1 672 broad.mit.edu 37 17 41245222 41245222 + Missense_Mutation SNP C C A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr17:41245222C>A ENST00000309486.4 - 9 2465 c.1438G>T c.(1438-1440)Gat>Tat p.D480Y BRCA1_ENST00000346315.3_Missense_Mutation_p.D776Y|BRCA1_ENST00000471181.2_Missense_Mutation_p.D776Y|BRCA1_ENST00000493795.1_Missense_Mutation_p.D729Y|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.D776Y|BRCA1_ENST00000354071.3_Missense_Mutation_p.D776Y|BRCA1_ENST00000586385.1_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 776 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GTGCCATAATCAGTACCAGGT 0.408000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 5 261 1 1 1 1 0 PIP5K1C 23396 broad.mit.edu 37 19 3653479 3653479 + Missense_Mutation SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr19:3653479G>A ENST00000335312.3 - 7 818 c.730C>T c.(730-732)Cgc>Tgc p.R244C PIP5K1C_ENST00000539785.1_Missense_Mutation_p.R244C|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.R244C|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.R244C NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 244 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TTGACCACGCGGGGCAGGATG 0.602000 14 36 0 0 1 0 0 MCCC2 64087 broad.mit.edu 37 5 70939667 70939667 + Missense_Mutation SNP A A G TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr5:70939667A>G ENST00000340941.6 + 12 1223 c.1094A>G c.(1093-1095)tAc>tGc p.Y365C MCCC2_ENST00000323375.8_Missense_Mutation_p.Y327C NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 365 Acyl-CoA binding (Potential).|Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) ATATTTGGGTACCCAGTAGGT 0.333000 35 81 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533276 533276 + Splice_Site SNP C C A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr11:533276C>A ENST00000417302.1 - 5 720 c.e5+1 HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397596.2_Intron|HRAS_ENST00000397594.1_Splice_Site|HRAS_ENST00000451590.1_Intron NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GGGAGACTTACAGCGCGAGGG 0.726000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 5 2 0.000602214 0.000662436 1 1 0 CASP9 842 broad.mit.edu 37 1 15844669 15844669 + Silent SNP T T C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr1:15844669T>C ENST00000546424.1 - 2 598 c.354A>G c.(352-354)ccA>ccG p.P118P CASP9_ENST00000333868.5_Silent_p.P118P|CASP9_ENST00000375890.4_Silent_p.P35P|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000348549.5_Silent_p.P118P P55211 CASP9_HUMAN caspase 9, apoptosis-related cysteine peptidase 118 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) TGAGAACCTCTGGTTTGCGAA 0.512000 18 30 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75891860 75891860 + Missense_Mutation SNP T T G TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr2:75891860T>G ENST00000321027.3 - 17 2411 c.2278A>C c.(2278-2280)Aat>Cat p.N760H MRPL19_ENST00000409374.1_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.N722H|GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 760 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCTGCTTGATTCAAAGCTTTT 0.294000 24 55 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29867319 29867319 + Missense_Mutation SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr18:29867319G>A ENST00000399218.4 - 4 1296 c.1241C>T c.(1240-1242)gCt>gTt p.A414V GAREM_ENST00000269209.6_Missense_Mutation_p.A414V NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 AGGAAAGGGAGCCCAATCTCC 0.547000 23 42 0 0 1 0 0 HACE1 57531 broad.mit.edu 37 6 105177562 105177562 + Missense_Mutation SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr6:105177562C>T ENST00000262903.4 - 24 2981 c.2705G>A c.(2704-2706)gGc>gAc p.G902D HACE1_ENST00000369125.2_Missense_Mutation_p.G687D|HACE1_ENST00000517995.1_5'UTR NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 902 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) ACCATAGCTGCCACAATGTAG 0.383000 30 44 0 0 1 0 0 MMP14 4323 broad.mit.edu 37 14 23312527 23312527 + Silent SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr14:23312527C>T ENST00000311852.6 + 5 1011 c.750C>T c.(748-750)tcC>tcT p.S250S MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 250 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TCGAGCATTCCAGTGACCCCT 0.582000 19 39 0 0 1 0 0 HDAC11 79885 broad.mit.edu 37 3 13522848 13522848 + Missense_Mutation SNP T T A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr3:13522848T>A ENST00000295757.3 + 2 288 c.105T>A c.(103-105)caT>caA p.H35Q HDAC11_ENST00000402259.1_Missense_Mutation_p.H35Q|HDAC11_ENST00000437379.2_Missense_Mutation_p.H7Q|HDAC11_ENST00000404040.1_Missense_Mutation_p.H35Q|HDAC11_ENST00000405025.1_Missense_Mutation_p.H7Q|HDAC11_ENST00000404548.1_Missense_Mutation_p.H35Q|HDAC11_ENST00000522202.1_Missense_Mutation_p.H7Q|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000433119.1_Missense_Mutation_p.H7Q|HDAC11_ENST00000402271.1_Missense_Mutation_p.H35Q NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 35 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 AGAAGCTGCATCCCTTTGATG 0.537000 5 31 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37841802 37841802 + Missense_Mutation SNP A A G TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr4:37841802A>G ENST00000381967.4 + 6 740 c.640A>G c.(640-642)Agc>Ggc p.S214G PGM2_ENST00000537241.1_Missense_Mutation_p.S54G|PGM2_ENST00000544359.1_Missense_Mutation_p.S75G NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 214 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TTTAATTGATAGCAGTCCACT 0.403000 26 71 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112200395 112200395 + Splice_Site SNP T T G TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr9:112200395T>G ENST00000412145.1 - 3 2746 c.193A>C c.(193-195)Agt>Cgt p.S65R PTPN3_ENST00000374541.2_Splice_Site_p.S196R|PTPN3_ENST00000262539.3_Splice_Site_p.S87R|PTPN3_ENST00000446349.1_Splice_Site_p.S65R NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 196 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CCCCCTCACCTGTGCTGCTCA 0.453000 7 44 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169641993 169641993 + Missense_Mutation SNP G G T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr6:169641993G>T ENST00000366787.3 - 6 1004 c.755C>A c.(754-756)aCc>aAc p.T252N NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 252 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CACGTACTCGGTGGTGACATG 0.637000 21 23 5.35356e-11 6.54324e-11 1 1 0 WDR91 29062 broad.mit.edu 37 7 134878389 134878389 + Silent SNP G G C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr7:134878389G>C ENST00000354475.4 - 10 1462 c.1431C>G c.(1429-1431)ctC>ctG p.L477L WDR91_ENST00000344400.5_Silent_p.L477L|WDR91_ENST00000423565.1_Silent_p.L442L NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 477 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 CCGTGTCATAGAGACGCACTG 0.552000 6 52 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37396630 37396630 + Silent SNP T T C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr3:37396630T>C ENST00000361924.2 + 22 6989 c.6615T>C c.(6613-6615)ccT>ccC p.P2205P GOLGA4_ENST00000356847.4_Silent_p.P2220P|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 2205 GRIP. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TGAAGTTCCCTGATGATCAGA 0.393000 18 59 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976759 46976759 + Silent SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr1:46976759C>T ENST00000371956.4 + 3 516 c.501C>T c.(499-501)ccC>ccT p.P167P DMBX1_ENST00000360032.3_Silent_p.P162P NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 167 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CTGAGCAGCCCCCACGTCTGC 0.647000 19 45 0 0 1 0 0 FSTL3 10272 broad.mit.edu 37 19 677792 677792 + Splice_Site SNP G G A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr19:677792G>A ENST00000166139.4 + 2 136 c.104G>A c.(103-105)gGt>gAt p.G35D NM_005860.2 NP_005851.1 O95633 FSTL3_HUMAN follistatin-like 3 (secreted glycoprotein) 35 hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CGGCCCGCAGGTGGTGTTTGC 0.662000 T CCND1 B-CLL 7 14 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23965905 23965905 + Missense_Mutation SNP C C A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr20:23965905C>A ENST00000335694.4 - 6 830 c.626G>T c.(625-627)gGc>gTc p.G209V GGTLC1_ENST00000286890.4_Missense_Mutation_p.G209V|GGTLC1_ENST00000278765.4_Missense_Mutation_p.G209V NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 209 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 AGCTGCCCAGCCACCAGCCAT 0.597000 7 31 2.7689e-08 3.2402e-08 1 1 0 SBK2 646643 broad.mit.edu 37 19 56041201 56041201 + Missense_Mutation SNP T T C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr19:56041201T>C ENST00000413299.1 - 4 983 c.946A>G c.(946-948)Agc>Ggc p.S316G SBK2_ENST00000344158.3_Missense_Mutation_p.S316G NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 316 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 ATCACAGCGCTCCTCCTTCGG 0.756000 5 13 0 0 1 0 0 TAAR1 134864 broad.mit.edu 37 6 132966320 132966320 + Missense_Mutation SNP G G C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr6:132966320G>C ENST00000275216.1 - 1 822 c.823C>G c.(823-825)Cct>Gct p.P275A NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 275 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) TGAAGAAAAGGGTCCATGACT 0.368000 17 49 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576891 7576891 + Nonsense_Mutation SNP T T A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr17:7576891T>A ENST00000420246.2 - 9 1087 c.955A>T c.(955-957)Aag>Tag p.K319* TP53_ENST00000455263.2_Nonsense_Mutation_p.K319*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.K319*|TP53_ENST00000269305.4_Nonsense_Mutation_p.K319*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K319* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 319 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2. K -> E (in sporadic cancers; somatic mutation).|K -> N (in a sporadic cancer; somatic mutation).|K -> R (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.K319*(8)|p.P318fs*15(2)|p.K319fs*19(2)|p.K319E(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTTTCTTCTTTGGCTGGGGA 0.468000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 22 13 0 0 1 0 0 ATG7 10533 broad.mit.edu 37 3 11468324 11468324 + Frame_Shift_Del DEL T T - TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr3:11468324delT ENST00000354449.3 + 18 2028 c.2003delT c.(2002-2004)gtgfs p.V668fs ATG7_ENST00000354956.5_Frame_Shift_Del_p.V641fs|ATG7_ENST00000446450.2_Intron NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 668 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CTAGCCAAGGTGTTTAATTCT 0.353 14 38 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 2 4 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18908504 18908504 + Frame_Shift_Del DEL C C - TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr9:18908504delC ENST00000380548.4 + 29 5586 c.5247delC c.(5245-5247)agcfs p.S1749fs ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.S450fs NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1749 PLAC. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCCAACTCAGCCAGTTTAAAT 0.547 2 4 --- --- --- --- RP11-526P5.2 0 broad.mit.edu 37 10 2561172 2561173 + RNA INS - - C rs34717268 by1000genomes TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr10:2561172_2561173insC ENST00000438753.1 + 0 207 aagaagaagGGGGGGGGAGGAG 0.381 3 4 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70030143 70030143 + RNA DEL A A - TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr16:70030143delA ENST00000531894.1 - 0 1647 NR_003610.1 TTAGACAATTAAAAAAAAAAA 0.423 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372914 74372914 + RNA DEL G G - rs67181940 TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr16:74372914delG ENST00000429810.2 - 0 1404 AACGTAGtttgtttttttttt 0.433 2 4 --- --- --- --- ABR 29 broad.mit.edu 37 17 909374 909374 + Frame_Shift_Del DEL G G - TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr17:909374delG ENST00000544583.2 - 23 2987 c.2388delC c.(2386-2388)cccfs p.P796fs ABR_ENST00000574437.1_Frame_Shift_Del_p.P796fs|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Frame_Shift_Del_p.P293fs|ABR_ENST00000536794.2_Frame_Shift_Del_p.P624fs|ABR_ENST00000291107.2_Frame_Shift_Del_p.P805fs|ABR_ENST00000302538.5_Frame_Shift_Del_p.P842fs NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 842 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity p.I843fs*>18(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CGAAGGAAATGGGGGGGTGCT 0.642 3 3 --- --- --- --- TP53I13 90313 broad.mit.edu 37 17 27899699 27899699 + Frame_Shift_Del DEL C C - TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr17:27899699delC ENST00000301057.7 + 6 1168 c.1053delC c.(1051-1053)agcfs p.S351fs RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 351 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) CAGCGGACAGCCAGGACACAG 0.701 2 4 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62839333 62839335 + In_Frame_Del DEL GAG GAG - TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr20:62839333_62839335delGAG ENST00000536311.1 + 7 1148_1150 c.784_786delGAG c.(784-786)gagdel p.E273del MYT1_ENST00000328439.1_In_Frame_Del_p.E273del|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 273 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) agaggaggacgaggaggaggagg 0.596 2 4 --- --- --- --- CDC42EP1 11135 broad.mit.edu 37 22 37964409 37964429 + In_Frame_Del DEL CAGCGCCTGCTGCAAACCCCT CAGCGCCTGCTGCAAACCCCT - rs13056859 by1000genomes TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e758da90-219b-4db9-ac2d-086847f5690d 29e158d6-4ad5-4863-8ea3-917a047024be g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT ENST00000249014.4 + 3 1178_1198 c.758_778delCAGCGCCTGCTGCAAACCCCT c.(757-780)ccagcgcctgctgcaaacccctca>cca p.APAANPS254del NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 254 8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG]. positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding p.N258_A264delNPSAPAA(3) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC 0.665 7 1 --- --- --- ---