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 RNPEPL1 57140 broad.mit.edu 37 2 241513564 241513564 + Missense_Mutation SNP A A G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:241513564A>G ENST00000270357.3 + 5 873 c.280A>G c.(280-282)Atc>Gtc p.I94V NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 94 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CTCCTTCCCCATCGTGGCCAT 0.627000 10 21 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61499249 61499249 + Missense_Mutation SNP G G A rs143701650 by1000genomes TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr17:61499249G>A ENST00000424789.2 + 25 5910 c.5906G>A c.(5905-5907)cGa>cAa p.R1969Q RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1979Q NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1969 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAGCTGTCCCGAGACTCTCGG 0.532000 13 24 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212798288 212798288 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:212798288C>T ENST00000294829.3 + 1 500 c.69C>T c.(67-69)acC>acT p.T23T RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 23 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TGTTCAACACCACCATGGGGA 0.488000 14 37 0 0 1 0 0 CFDP1 10428 broad.mit.edu 37 16 75446587 75446587 + Missense_Mutation SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr16:75446587T>C ENST00000283882.3 - 3 380 c.248A>G c.(247-249)gAg>gGg p.E83G RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.E140G|CFDP1_ENST00000564286.1_5'UTR NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 83 Glu-rich. multicellular organismal development endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 ACTGCTTCCCTCAGATTCTGA 0.493000 4 129 0 0 1 0 0 VSIG4 11326 broad.mit.edu 37 X 65242294 65242294 + Silent SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chrX:65242294G>A ENST00000374737.4 - 8 1119 c.1011C>T c.(1009-1011)gcC>gcT p.A337A VSIG4_ENST00000412866.2_Silent_p.A243A|VSIG4_ENST00000455586.2_3'UTR NM_001257403.1|NM_007268.2 NP_001244332.1|NP_009199.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 337 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTGCGAAGATGGCCACCCTCA 0.562000 10 18 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14479160 14479160 + RNA SNP G G C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr18:14479160G>C ENST00000581457.1 - 0 748 NR_024076.1 CAGATAGGTAGTTTCCCCTTT 0.493000 3 39 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81743629 81743629 + Missense_Mutation SNP G G A rs148063041 TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr14:81743629G>A ENST00000555447.1 - 6 2438 c.2026C>T c.(2026-2028)Cgg>Tgg p.R676W STON2_ENST00000267540.2_Missense_Mutation_p.R676W NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 676 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) GTCCTGAACCGCATTAGCTCA 0.537000 3 42 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16665777 16665777 + Silent SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr17:16665777T>C ENST00000443444.2 + 14 3957 c.3817T>C c.(3817-3819)Ttg>Ctg p.L1273L CCDC144A_ENST00000456009.1_Silent_p.L1039L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1273L|CCDC144A_ENST00000399273.1_Silent_p.L1273L|CCDC144A_ENST00000360524.8_Silent_p.L1273L A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 1273 TAAAACCGAATTGGAAAGATA 0.333000 3 3 0 0 1 0 0 LGALS9C 654346 broad.mit.edu 37 17 18396088 18396088 + Missense_Mutation SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr17:18396088G>A ENST00000328114.6 + 10 920 c.839G>A c.(838-840)cGt>cAt p.R280H LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247H|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192H NM_001040078.2 NP_001035167.2 Q6DKI2 LEG9C_HUMAN lectin, galactoside-binding, soluble, 9C 280 Galectin 2. sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 GCTGTGGTCCGTAACACCCAG 0.587000 4 66 0 0 1 0 0 LGALS9B 284194 broad.mit.edu 37 17 20354879 20354879 + Missense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr17:20354879C>T ENST00000423676.3 - 10 902 c.839G>A c.(838-840)cGt>cAt p.R280H LGALS9B_ENST00000324290.5_Missense_Mutation_p.R279H Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 280 Galectin 2. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 CTGGGTGTTACGGACCACAGC 0.587000 14 19 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27135188 27135188 + Missense_Mutation SNP T T A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr7:27135188T>A ENST00000343060.4 - 1 405 c.344A>T c.(343-345)cAg>cTg p.Q115L HOXA1_ENST00000355633.5_Missense_Mutation_p.Q115L NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 115 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GTCTGCTTCCTGATTTAACGC 0.562000 3 66 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687217 21687217 + Missense_Mutation SNP C C A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr20:21687217C>A ENST00000398485.2 + 2 482 c.428C>A c.(427-429)tCc>tAc p.S143Y PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.S119Y NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 143 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CTCCGCGTATCCCACGGCTGC 0.682000 19 22 8.00594e-06 8.00594e-06 1 1 0 MUC16 94025 broad.mit.edu 37 19 9075100 9075100 + Missense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:9075100C>T ENST00000397910.4 - 3 12549 c.12346G>A c.(12346-12348)Gcc>Acc p.A4116T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4118 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCCAGGAGGCTGTGGCTGAT 0.493000 8 38 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862645 10862645 + RNA SNP G G C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr21:10862645G>C ENST00000559480.1 + 0 24 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GGAGGATCCTGTTTTTGGTGG 0.507000 4 283 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121002881 121002881 + Nonsense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr12:121002881C>T ENST00000325954.4 + 11 2133 c.1672C>T c.(1672-1674)Cga>Tga p.R558* RNF10_ENST00000413266.2_Nonsense_Mutation_p.R563* NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 558 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTAGGATGTTCGACAGCGTCA 0.453000 42 67 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580901 40580901 + Missense_Mutation SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:40580901T>C ENST00000450241.2 - 6 1657 c.1346A>G c.(1345-1347)aAt>aGt p.N449S ZNF780A_ENST00000595687.2_Missense_Mutation_p.N483S|ZNF780A_ENST00000340963.5_Missense_Mutation_p.N483S|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000455521.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGAGCCACGATTGAAGGCCTT 0.423000 46 47 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 7 51 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118548121 118548121 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:118548121C>T ENST00000336338.5 - 32 4757 c.4692G>A c.(4690-4692)gaG>gaA p.E1564E NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1564 cilium|flagellar axoneme|microtubule p.E1564D(1) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTCGCAGCTGCTCACGCTTTT 0.443000 27 12 0 0 1 0 0 SUPT7L 9913 broad.mit.edu 37 2 27876404 27876404 + Missense_Mutation SNP C C G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:27876404C>G ENST00000337768.5 - 6 1762 c.1193G>C c.(1192-1194)gGg>gCg p.G398A SUPT7L_ENST00000404798.2_Missense_Mutation_p.G263A|SUPT7L_ENST00000406540.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000405491.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000464789.2_Missense_Mutation_p.G396A NM_014860.1 NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 398 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) AGGGGAGGACCCCATGAGGCT 0.498000 19 28 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26165009 26165009 + Missense_Mutation SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr22:26165009G>A ENST00000335473.7 + 4 1376 c.1126G>A c.(1126-1128)Ggt>Agt p.G376S MYO18B_ENST00000407587.2_Missense_Mutation_p.G376S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G376S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 376 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGAGAAAGCAGGTGAGCTTCG 0.572000 4 1 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238283663 238283663 + Splice_Site SNP A A T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:238283663A>T ENST00000295550.4 - 8 3523 c.3070_splice c.e8-1 p.V1024_splice COL6A3_ENST00000472056.1_Splice_Site_p.V417_splice|COL6A3_ENST00000392004.3_Splice_Site_p.V818_splice|COL6A3_ENST00000347401.3_Splice_Site_p.V823_splice|COL6A3_ENST00000409809.1_Splice_Site_p.V818_splice|COL6A3_ENST00000392003.2_Splice_Site_p.V617_splice|COL6A3_ENST00000346358.4_Splice_Site_p.V824_splice|COL6A3_ENST00000353578.4_Splice_Site_p.V818_splice NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1024 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTCACCTGAAACTGGGAGGAG 0.522000 5 11 0 0 1 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46077965 46077965 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr21:46077965C>T ENST00000397907.1 + 1 117 c.69C>T c.(67-69)tcC>tcT p.S23S TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 23 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCCAGGCATCCTGCTATGTGC 0.672000 34 42 0 0 1 0 0 CDKL3 51265 broad.mit.edu 37 5 133648028 133648028 + Missense_Mutation SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr5:133648028T>C ENST00000521118.1 - 7 950 c.836A>G c.(835-837)gAt>gGt p.D279G CDKL3_ENST00000435211.1_Missense_Mutation_p.D279G|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_5'UTR|CDKL3_ENST00000523832.1_Missense_Mutation_p.D279G|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_Missense_Mutation_p.D90G|CDKL3_ENST00000265334.4_Missense_Mutation_p.D279G Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 279 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGCAAAAGATCACTAGATGA 0.328000 3 10 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100449 110100449 + Silent SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr8:110100449T>C ENST00000518632.1 + 2 1059 c.708T>C c.(706-708)aaT>aaC p.N236N TRHR_ENST00000311762.2_Silent_p.N236N P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 236 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CATGGAAAAATGATTCAACCC 0.373000 13 20 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29225514 29225514 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:29225514C>T ENST00000379558.4 + 5 891 c.540C>T c.(538-540)agC>agT p.S180S FAM179A_ENST00000403861.2_Silent_p.S180S NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 180 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TCATCCAGAGCATCCCTACCA 0.662000 5 9 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44847335 44847335 + Splice_Site SNP A A G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr3:44847335A>G ENST00000326047.4 + 16 1978 c.e16-1 KIF15_ENST00000425755.1_Splice_Site NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AATATCTATTAGGAAAAGGCA 0.343000 9 69 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46791574 46791574 + Silent SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr11:46791574G>A ENST00000529230.1 - 26 3307 c.3261C>T c.(3259-3261)ccC>ccT p.P1087P CKAP5_ENST00000312055.5_Silent_p.P1087P|CKAP5_ENST00000354558.3_Silent_p.P1087P|CKAP5_ENST00000415402.1_Silent_p.P1087P Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1087 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TTGCTTTAGTGGGTGGAGCAG 0.448000 30 44 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 605191 605191 + Missense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr11:605191C>T ENST00000264555.5 + 11 1353 c.1225C>T c.(1225-1227)Ccg>Tcg p.P409S PHRF1_ENST00000413872.2_Missense_Mutation_p.P408S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P409S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P405S NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 409 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAGCTGCATCCCGTCAGTGTT 0.557000 21 25 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54917726 54917726 + Missense_Mutation SNP G G C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr12:54917726G>C ENST00000293373.6 + 20 2221 c.2142G>C c.(2140-2142)gaG>gaC p.E714D NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E664D NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 714 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GCCACCTGGAGGCCAGACTCA 0.443000 18 34 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114354414 114354414 + Silent SNP G G A rs147797898 TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:114354414G>A ENST00000261441.5 - 1 684 c.621C>T c.(619-621)tgC>tgT p.C207C NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 207 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATCGGTTCCGCAGGAGCTGG 0.632000 5 20 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237054510 237054510 + Missense_Mutation SNP C C T rs139771804 TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:237054510C>T ENST00000366577.5 + 29 3479 c.3085C>T c.(3085-3087)Cgg>Tgg p.R1029W MTR_ENST00000535889.1_Missense_Mutation_p.R978W NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1029 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) ACTCCGGGCCCGGGGTGTGGT 0.522000 20 73 0 0 1 0 0 SLC44A1 23446 broad.mit.edu 37 9 108128699 108128699 + Missense_Mutation SNP T T A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr9:108128699T>A ENST00000374720.3 + 12 1730 c.1483T>A c.(1483-1485)Tat>Aat p.Y495N SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y495N|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y287N|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y495N NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 495 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) GTGCCTAAATTATTTAAATCA 0.299000 18 16 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61190752 61190752 + Missense_Mutation SNP G G T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr14:61190752G>T ENST00000216513.4 - 1 100 c.41C>A c.(40-42)gCg>gAg p.A14E NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 14 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CTTGATGTCCGCCGCACTTGC 0.607000 23 42 4.59853e-10 4.70802e-10 1 1 0 PSG8 440533 broad.mit.edu 37 19 43262332 43262332 + Silent SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:43262332G>A ENST00000404209.4 - 3 627 c.531C>T c.(529-531)agC>agT p.S177S PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.S55S|PSG8_ENST00000306511.4_Silent_p.S177S NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 177 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) ACCACAGGTAGCTTGCGTCCG 0.527000 5 246 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 36982171 36982171 + Translation_Start_Site SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:36982171G>A ENST00000497382.1 + 0 570 VIT_ENST00000457137.2_Missense_Mutation_p.R128Q|VIT_ENST00000404084.1_Missense_Mutation_p.R106Q|VIT_ENST00000379242.3_Missense_Mutation_p.R128Q|VIT_ENST00000379241.3_Missense_Mutation_p.R128Q|VIT_ENST00000389975.3_Missense_Mutation_p.R128Q|VIT_ENST00000401530.1_Missense_Mutation_p.R128Q Q6UXI7 VITRN_HUMAN vitrin proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TCCCTACCACGATGGAGAGAA 0.443000 3 42 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43850691 43850691 + Missense_Mutation SNP C C A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr20:43850691C>A ENST00000372769.3 + 2 508 c.418C>A c.(418-420)Caa>Aaa p.Q140K NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 140 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) TCATGGGACACAAAATCCTTC 0.388000 29 44 1.77063e-15 1.857e-15 1 1 0 SIX4 51804 broad.mit.edu 37 14 61190753 61190753 + Missense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr14:61190753C>T ENST00000216513.4 - 1 99 c.40G>A c.(40-42)Gcg>Acg p.A14T NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 14 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) TTGATGTCCGCCGCACTTGCG 0.607000 22 42 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 55 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33113510 33113510 + Missense_Mutation SNP C C G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:33113510C>G ENST00000306065.4 - 18 1803 c.1645G>C c.(1645-1647)Gtt>Ctt p.V549L NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 549 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) TCGTAGTAAACCAGAGCCTTC 0.547000 3 57 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241702149 241702151 + In_Frame_Del DEL CTC CTC - TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:241702149_241702151delCTC ENST00000498729.2 - 23 2347_2349 c.2101_2103delGAG c.(2101-2103)del p.E701del KIF1A_ENST00000320389.7_In_Frame_Del_p.E692del NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 692 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CATCCTCGGGCTCCTCCTCCTCC 0.621 3 6 --- --- --- --- RBPMS 11030 broad.mit.edu 37 8 30402178 30402180 + In_Frame_Del DEL CAC CAC - TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr8:30402178_30402180delCAC ENST00000520191.1 + 6 683_685 c.253_255delCAC c.(253-255)del p.H86del RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000517860.1_In_Frame_Del_p.H190del|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000538486.1_Intron Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 0 RRM. positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TCACTCACTTCACCACCAGTCCT 0.502 27 30 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 7 168 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 7 26 --- --- --- --- LOC645752 645752 broad.mit.edu 37 15 78217568 78217569 + RNA INS - - A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr15:78217568_78217569insA ENST00000567226.1 - 0 105 ATATTATGGCTAAAAAAAAAGT 0.426 2 4 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 4 5 --- --- --- --- MYH14 79784 broad.mit.edu 37 19 50771562 50771564 + In_Frame_Del DEL GAG GAG - TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:50771562_50771564delGAG ENST00000440075.2 + 24 3018_3020 c.2971_2973delGAG c.(2971-2973)del p.E994del MYH14_ENST00000262269.8_In_Frame_Del_p.E994del|MYH14_ENST00000376970.2_In_Frame_Del_p.E986del|MYH14_ENST00000601313.1_In_Frame_Del_p.E994del|MYH14_ENST00000598205.1_In_Frame_Del_p.E961del|MYH14_ENST00000596571.1_In_Frame_Del_p.E953del|MYH14_ENST00000425460.1_In_Frame_Del_p.E961del Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 953 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TCGCGTGGGCGAGGAGGAGGAGT 0.655 2 4 --- --- --- ---