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 SEMA3E 9723 broad.mit.edu 37 7 83119432 83119432 + Missense_Mutation SNP C C G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:83119432C>G ENST00000307792.3 - 2 741 c.274G>C c.(274-276)Gag>Cag p.E92Q SEMA3E_ENST00000427262.1_Missense_Mutation_p.E32Q NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 92 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TTCTATACCTCTTTATAGCCG 0.388000 17 36 0 0 1 0 0 DEFB119 245932 broad.mit.edu 37 20 29966170 29966170 + Missense_Mutation SNP C C A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr20:29966170C>A ENST00000339144.3 - 2 192 c.86G>T c.(85-87)tGc>tTc p.C29F DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_5'UTR Q8N690 DB119_HUMAN defensin, beta 119 0 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) agtatccaggcagcatcccac 0.488000 17 180 2.4624e-09 2.57432e-09 1 1 0 DDX19A 55308 broad.mit.edu 37 16 70400656 70400656 + Silent SNP T T C rs142443034 byFrequency TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:70400656T>C ENST00000302243.7 + 9 1075 c.912T>C c.(910-912)gaT>gaC p.D304D DDX19A_ENST00000417604.2_Silent_p.D273D|DDX19A_ENST00000443119.2_Silent_p.D214D NM_018332.3 NP_060802.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1) 11 Ovarian(137;0.221) AGACCCTGGATACCATCAAGC 0.502000 25 101 0 0 1 0 0 RAB27A 5873 broad.mit.edu 37 15 55497845 55497845 + Missense_Mutation SNP T T A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr15:55497845T>A ENST00000396307.2 - 6 777 c.526A>T c.(526-528)Atg>Ttg p.M176L RAB27A_ENST00000564609.1_Missense_Mutation_p.M176L|RAB27A_ENST00000569493.1_Missense_Mutation_p.M176L|RAB27A_ENST00000336787.1_Missense_Mutation_p.M176L NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 176 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) TCCAGAAGCATCTCAATTGCT 0.473000 27 44 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33638268 33638268 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:33638268G>A ENST00000374316.5 + 20 3416 c.2356G>A c.(2356-2358)Gtg>Atg p.V786M ITPR3_ENST00000605930.1_Missense_Mutation_p.V786M Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 786 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCACGTGCACGTGGACCGTGA 0.622000 50 101 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129123129 129123129 + Missense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:129123129C>T ENST00000505956.1 - 7 1529 c.1367G>A c.(1366-1368)cGg>cAg p.R456Q EFCAB12_ENST00000326085.3_Missense_Mutation_p.R456Q NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 GCCCTGGGACCGGAGCAGAGC 0.562000 55 59 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156726 26156726 + Silent SNP T T A rs148044098 TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:26156726T>A ENST00000304218.3 + 1 168 c.108T>A c.(106-108)tcT>tcA p.S36S NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 36 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 GCAAAGCGTCTGGGCCCCCGG 0.662000 47 31 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72845967 72845967 + Missense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:72845967C>T ENST00000293190.5 - 7 1743 c.1597G>A c.(1597-1599)Gtg>Atg p.V533M GRIN2C_ENST00000347612.4_Missense_Mutation_p.V533M NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 533 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GCCACCATCACACTGATGCCC 0.637000 8 103 0 0 1 0 0 PRDX6 9588 broad.mit.edu 37 1 173450467 173450467 + Missense_Mutation SNP G G T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:173450467G>T ENST00000340385.5 + 2 230 c.98G>T c.(97-99)tGg>tTg p.W33L PRDX6_ENST00000470017.1_3'UTR NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 33 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 CCTTTCAGATGGGGCATTCTC 0.453000 5 80 4.096e-09 4.23407e-09 1 1 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 4 32 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94214273 94214273 + Silent SNP G G T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr10:94214273G>T ENST00000265986.6 - 25 3044 c.2988C>A c.(2986-2988)acC>acA p.T996T IDE_ENST00000371581.5_Silent_p.T441T|IDE_ENST00000496903.1_5'UTR NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 996 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTTGAATTCGGTCATGTTCT 0.408000 35 46 3.62531e-18 3.97057e-18 1 1 0 SNHG14 0 broad.mit.edu 37 15 25475911 25475911 + RNA SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr15:25475911G>A ENST00000453082.2 + 0 1506 NR_003343.1 CCTTCCTGGCGCCCTGGACTG 0.597000 32 41 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72301394 72301394 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:72301394G>A ENST00000579490.1 + 8 1330 c.1195G>A c.(1195-1197)Gtc>Atc p.V399I DNAI2_ENST00000311014.6_Missense_Mutation_p.V342I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 342 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCAGGGCATCGTCATCTCCTG 0.577000 Kartagener syndrome 4 103 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660106 46660106 + Missense_Mutation SNP T T C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:46660106T>C ENST00000544460.1 + 1 4495 c.4241T>C c.(4240-4242)tTg>tCg p.L1414S TDRD6_ENST00000316081.6_Missense_Mutation_p.L1414S NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1414 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TTGCCGGGGTTGTGCATTCAT 0.408000 109 92 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140082874 140082874 + Silent SNP C C A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr9:140082874C>A ENST00000323927.2 - 1 115 c.111G>T c.(109-111)ctG>ctT p.L37L NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 37 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) TCACCAGCCCCAGCGCAGCCG 0.706000 3 24 6.4e-05 6.54222e-05 1 1 0 SYNRG 11276 broad.mit.edu 37 17 35902074 35902074 + Splice_Site SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:35902074C>T ENST00000339208.6 - 15 3342 c.3202_splice c.e15+1 p.G1068_splice SYNRG_ENST00000394378.2_Splice_Site_p.G990_splice|SYNRG_ENST00000591288.1_Splice_Site_p.G862_splice|SYNRG_ENST00000346661.4_Splice_Site_p.G1068_splice|SYNRG_ENST00000345615.4_Splice_Site_p.G990_splice|SYNRG_ENST00000585472.1_Splice_Site_p.G989_splice|SYNRG_ENST00000502449.2_Splice_Site_p.G945_splice NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1068 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGCTACTCACCTTGAACAGAA 0.373000 49 57 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088048 86088048 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr14:86088048G>A ENST00000330753.4 + 2 957 c.190G>A c.(190-192)Ggc>Agc p.G64S FLRT2_ENST00000554746.1_Missense_Mutation_p.G64S NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 64 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GATCCCGGAGGGCGTAACTGT 0.517000 37 108 0 0 1 0 0 IGLV3-12 0 broad.mit.edu 37 22 23114830 23114830 + RNA SNP A A G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr22:23114830A>G ENST00000390313.2 + 0 111 TGGCCACAGCACAGATGGCCA 0.498000 5 23 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101840287 101840287 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:101840287G>A ENST00000360264.3 + 15 1649 c.1629G>A c.(1627-1629)atG>atA p.M543I CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.M532I|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.M430I|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.M532I|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.M430I|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.M532I NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 532 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TCAATGGCATGGCCCCATCCC 0.522000 10 146 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 32 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139734050 139734050 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:139734050G>A ENST00000263549.3 - 8 2279 c.1406C>T c.(1405-1407)aCg>aTg p.T469M PARP12_ENST00000470515.1_5'UTR NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 469 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) TTGCATGGTCGTCACATCCTG 0.493000 13 22 0 0 1 0 0 C19orf10 56005 broad.mit.edu 37 19 4660690 4660690 + Silent SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:4660690G>A ENST00000262947.3 - 4 395 c.360C>T c.(358-360)gcC>gcT p.A120A C19orf10_ENST00000599630.1_Silent_p.A120A NM_019107.3 NP_061980.1 Q969H8 CS010_HUMAN chromosome 19 open reading frame 10 120 ER-Golgi intermediate compartment|extracellular region haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015) CGTAGGCCATGGCGTACTCAA 0.617000 5 111 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33463111 33463111 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr9:33463111G>A ENST00000455041.2 - 24 3114 c.3055C>T c.(3055-3057)Ctt>Ttt p.L1019F NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 1071 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TAGAAGAAAAGGGCCAGATCC 0.552000 9 20 0 0 1 0 0 PCDHGA10 0 broad.mit.edu 37 5 140794825 140794825 + Missense_Mutation SNP C C G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr5:140794825C>G ENST00000398610.2 + 1 2083 c.2083C>G c.(2083-2085)Ctg>Gtg p.L695V PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACCTCACTCTGTACCTGGT 0.647000 4 269 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135076223 135076223 + Nonsense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:135076223G>A ENST00000409645.1 + 5 738 c.486G>A c.(484-486)tgG>tgA p.W162* MGAT5_ENST00000281923.2_Nonsense_Mutation_p.W162* Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 162 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TGTTTCAGTGGATGAAAGACA 0.488000 7 254 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263352 263352 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:263352G>A ENST00000360127.6 + 2 734 c.718G>A c.(718-720)Gag>Aag p.E240K C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 270 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. E -> D (in Ref. 3; AAH57385). p.E240K(2) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCCGACCCCGAGGCCCTCAA 0.726000 3 29 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115614246 115614246 + Missense_Mutation SNP G G C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:115614246G>C ENST00000265440.7 - 3 425 c.245C>G c.(244-246)tCt>tGt p.S82C TFEC_ENST00000393485.1_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.S172C|TFEC_ENST00000320239.7_Intron NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 82 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TAGCAGAGGAGAGTCTGCTCC 0.333000 8 48 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85982088 85982088 + Missense_Mutation SNP C C A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr10:85982088C>A ENST00000372113.4 - 3 1246 c.1241G>T c.(1240-1242)gGa>gTa p.G414V LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 414 Fibronectin type-III. integral to membrane p.G414L(2)|p.G414V(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 AGTATTGATTCCGGGGCCAAT 0.552000 4 93 0.00909568 0.00909568 1 1 0 KIF19 124602 broad.mit.edu 37 17 72346559 72346559 + Silent SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:72346559C>T ENST00000389916.4 + 11 1371 c.1233C>T c.(1231-1233)agC>agT p.S411S NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 411 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 AGCTGCACAGCGGGCAGGGTG 0.672000 11 9 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17250900 17250900 + Missense_Mutation SNP G G A rs140882535 TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:17250900G>A ENST00000375541.5 + 3 346 c.277G>A c.(277-279)Gtg>Atg p.V93M CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 93 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCTGTCCCGCGTGGAGGACCT 0.657000 18 24 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801052 9801052 + Missense_Mutation SNP C C T rs115285977 by1000genomes TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:9801052C>T ENST00000457674.2 - 5 1645 c.1127G>A c.(1126-1128)cGt>cAt p.R376H ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGTTTACTACGATAGGAAGA 0.388000 27 42 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 37 27 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13600893 13600893 + Missense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr4:13600893C>T ENST00000040738.5 - 10 7766 c.7631G>A c.(7630-7632)gGg>gAg p.G2544E NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2544 DNA binding AGCCACGGTCCCTTGAACAGG 0.493000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 9 0 0 1 0 0 CMAS 55907 broad.mit.edu 37 12 22199458 22199458 + Missense_Mutation SNP G G C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:22199458G>C ENST00000229329.2 + 1 351 c.221G>C c.(220-222)tGg>tCg p.W74S NM_018686.4 NP_061156.1 Q8NFW8 NEUA_HUMAN cytidine monophosphate N-acetylneuraminic acid synthetase 74 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 CTCATTGGCTGGGTCCTGCGT 0.692000 9 11 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156846352 156846352 + Missense_Mutation SNP A A G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:156846352A>G ENST00000368196.3 + 13 1895 c.1775A>G c.(1774-1776)aAc>aGc p.N592S NTRK1_ENST00000524377.1_Missense_Mutation_p.N598S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N562S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N595S NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 598 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGGGACCTCAACCGCTTCCTC 0.642000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 7 16 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51751835 51751835 + Splice_Site SNP T T A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:51751835T>A ENST00000395052.3 + 5 2779 c.e5+2 GRM2_ENST00000442933.2_Splice_Site|GRM2_ENST00000475478.1_Splice_Site NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TTGGCCAAGGTCAGTGTCCTA 0.622000 20 22 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20370287 20370287 + RNA SNP T T C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:20370287T>C ENST00000593655.1 - 0 199 ATTGCCAATCTTTGAACTCAT 0.408000 5 12 0 0 1 0 0 LYPD6B 130576 broad.mit.edu 37 2 150064872 150064872 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:150064872G>A ENST00000409642.3 + 5 675 c.274G>A c.(274-276)Gca>Aca p.A92T LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.A92T|LYPD6B_ENST00000409876.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000409029.1_Missense_Mutation_p.A68T NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 68 UPAR/Ly6. anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 TTGTGAAAACGCAGGGGATAA 0.373000 74 25 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591586 86591586 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:86591586G>A ENST00000370571.2 - 3 799 c.433C>T c.(433-435)Cac>Tac p.H145Y COL24A1_ENST00000436319.1_Missense_Mutation_p.H145Y NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 145 Laminin G-like.|TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCTCTAATGTGTACTACTAAT 0.358000 5 11 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14849266 14849266 + Silent SNP G G C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:14849266G>C ENST00000261170.3 - 1 253 c.117C>G c.(115-117)gtC>gtG p.V39V RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 39 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CCATCATCAGGACGCTGATTT 0.527000 13 37 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13735963 13735963 + Missense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr5:13735963C>T ENST00000265104.4 - 67 11638 c.11534G>A c.(11533-11535)cGc>cAc p.R3845H NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3845 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGAAACTGGCGAAGCGAAGT 0.468000 Kartagener syndrome 66 105 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132238154 132238154 + Silent SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:132238154C>T ENST00000321253.6 + 4 995 c.888C>T c.(886-888)ttC>ttT p.F296F NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 296 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) ATGCCTGCTTCGAGCCAGCCA 0.597000 61 220 0 0 1 0 0 HAUS1 115106 broad.mit.edu 37 18 43685266 43685266 + Missense_Mutation SNP T T G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr18:43685266T>G ENST00000282058.6 + 2 217 c.137T>G c.(136-138)gTc>gGc p.V46G HAUS1_ENST00000585518.1_Missense_Mutation_p.V46G NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 46 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 CGCAACAGGGTCCGGGACAGG 0.438000 24 2 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49161202 49161202 + Silent SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:49161202G>A ENST00000418109.1 - 25 3920 c.3756C>T c.(3754-3756)gcC>gcT p.A1252A LAMB2_ENST00000305544.4_Silent_p.A1252A NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1252 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGTGGAGGCGGCTGAGGTGT 0.622000 53 25 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158068387 158068387 + Missense_Mutation SNP C C A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:158068387C>A ENST00000359775.5 + 7 1841 c.952C>A c.(952-954)Ccc>Acc p.P318T ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P318T|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 318 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CCTGTGTGGGCCCATCTCACC 0.498000 24 80 2.21704e-12 2.34445e-12 1 1 0 ABCA7 10347 broad.mit.edu 37 19 1056090 1056090 + Nonsense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:1056090C>T ENST00000263094.6 + 32 4495 c.4264C>T c.(4264-4266)Cga>Tga p.R1422* ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R1422*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R1284* NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1422 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGGGGGCCGAGACCCAGG 0.726000 30 38 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100491367 100491367 + Missense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:100491367C>T ENST00000302913.4 - 2 625 c.487G>A c.(487-489)Gtg>Atg p.V163M ACHE_ENST00000411582.1_Missense_Mutation_p.V163M|ACHE_ENST00000428317.1_Missense_Mutation_p.V163M|ACHE_ENST00000419336.2_Missense_Mutation_p.V163M|ACHE_ENST00000241069.5_Missense_Mutation_p.V163M|ACHE_ENST00000412389.1_Missense_Mutation_p.V163M NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 163 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CCATCGTACACGTCCAAGGAG 0.637000 33 115 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21109960 21109960 + Missense_Mutation SNP T T C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:21109960T>C ENST00000261383.3 - 17 2496 c.2497A>G c.(2497-2499)Aat>Gat p.N833D DNAH3_ENST00000415178.1_Missense_Mutation_p.N833D NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 833 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AACGCCCGATTTAGGTTCTTT 0.413000 4 119 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147108875 147108875 + Missense_Mutation SNP T T C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:147108875T>C ENST00000383075.3 - 4 1359 c.847A>G c.(847-849)Aag>Gag p.K283E ZIC4_ENST00000484399.1_Missense_Mutation_p.K283E|ZIC4_ENST00000425731.3_Missense_Mutation_p.K321E|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.K283E|ZIC4_ENST00000525172.2_Missense_Mutation_p.K333E|ZIC4_ENST00000491672.1_Missense_Mutation_p.K77E NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 283 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 TTCATGTGCTTACGCAGCGAG 0.642000 33 30 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172549335 172549335 + Missense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:172549335C>T ENST00000534253.2 + 3 325 c.157C>T c.(157-159)Ctt>Ttt p.L53F DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L53F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L53F Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 53 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) AGAATCAGATCTTGAAAAAAA 0.353000 7 16 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1409282 1409282 + Missense_Mutation SNP G G T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chrX:1409282G>T ENST00000381524.3 + 7 712 c.526G>T c.(526-528)Gtg>Ttg p.V176L CSF2RA_ENST00000381509.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V176L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V43L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V176L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V176L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V176L P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 176 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGGAACCCATGTGGGATGTCA 0.433000 38 196 5.20837e-25 5.77313e-25 1 1 0 CDH12 1010 broad.mit.edu 37 5 21817119 21817119 + Missense_Mutation SNP C C A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr5:21817119C>A ENST00000382254.1 - 9 2023 c.937G>T c.(937-939)Ggg>Tgg p.G313W CDH12_ENST00000504376.2_Missense_Mutation_p.G313W|CDH12_ENST00000522262.1_Missense_Mutation_p.G273W|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 313 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AAATTTCCCCCATCTCCTGGA 0.383000 HNSCC(59;0.17) 62 98 3.00467e-41 3.41271e-41 1 1 0 MYBPC2 4606 broad.mit.edu 37 19 50962009 50962009 + Missense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:50962009C>T ENST00000357701.5 + 21 2555 c.2504C>T c.(2503-2505)gCg>gTg p.A835V NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 835 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) AGGGAGATTGCGGGTGCGTGG 0.672000 3 17 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75476735 75476735 + RNA SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:75476735C>T ENST00000459803.1 - 0 621 NR_024241.1 p.E194E(3) CTCGGAGCTGCTCGAGGACCC 0.602000 5 46 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72700686 72700686 + Missense_Mutation SNP T T C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:72700686T>C ENST00000469092.1 - 3 598 c.322A>G c.(322-324)Act>Gct p.T108A CD300LF_ENST00000583937.1_Missense_Mutation_p.T105A|CD300LF_ENST00000464910.1_Missense_Mutation_p.T108A|CD300LF_ENST00000581500.1_Missense_Mutation_p.T108A|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.T108A|CD300LF_ENST00000361254.4_Missense_Mutation_p.T108A|CD300LF_ENST00000326165.6_Missense_Mutation_p.T105A|CD300LF_ENST00000301573.9_Missense_Mutation_p.T105A Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 105 Ig-like V-type. integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CACCAGTAAGTGTCAGCATCA 0.478000 71 104 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43897195 43897195 + Splice_Site SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:43897195G>A ENST00000562955.1 + 34 4917 c.e34+1 SZT2_ENST00000372442.1_Splice_Site NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CATGAATGAGGTGAGCCCCCC 0.498000 58 14 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51392325 51392325 + Missense_Mutation SNP G G T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:51392325G>T ENST00000266037.9 + 41 4143 c.4120G>T c.(4120-4122)Gtg>Ttg p.V1374L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1374 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAAAGAATACGTGTGCCGTGG 0.542000 39 131 8.69298e-16 9.40887e-16 1 1 0 TG 7038 broad.mit.edu 37 8 134128882 134128882 + Missense_Mutation SNP A A G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr8:134128882A>G ENST00000220616.4 + 45 7824 c.7784A>G c.(7783-7785)gAc>gGc p.D2595G TG_ENST00000377869.1_Missense_Mutation_p.D2538G|TG_ENST00000519543.1_Missense_Mutation_p.D728G|TG_ENST00000542445.1_Missense_Mutation_p.D965G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2595 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTATAATCGACATGGCCAGT 0.537000 57 69 0 0 1 0 0 RBM46 166863 broad.mit.edu 37 4 155720132 155720132 + Missense_Mutation SNP A A G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr4:155720132A>G ENST00000510397.1 + 4 997 c.818A>G c.(817-819)tAt>tGt p.Y273C RBM46_ENST00000514866.1_Missense_Mutation_p.Y273C|RBM46_ENST00000281722.3_Missense_Mutation_p.Y273C NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 273 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) CTTAGAGATTATGCTTTTGTT 0.363000 23 16 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 5 189 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59782054 59782054 + Silent SNP C C G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr14:59782054C>G ENST00000395125.1 + 3 353 c.330C>G c.(328-330)ctC>ctG p.L110L DAAM1_ENST00000360909.3_Silent_p.L110L|DAAM1_ENST00000351081.1_Silent_p.L110L NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 110 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding p.L110L(1) breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) TTGATCAGCTCAATTCCATGG 0.383000 11 90 0 0 1 0 0 GPR150 285601 broad.mit.edu 37 5 94956331 94956331 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr5:94956331G>A ENST00000380007.2 + 1 550 c.352G>A c.(352-354)Ggg>Agg p.G118R NM_199243.1 NP_954713.1 Q8NGU9 GP150_HUMAN G protein-coupled receptor 150 118 integral to membrane|plasma membrane G-protein coupled receptor activity lung(2) 2 all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051) all cancers(79;1.82e-16) CGCGGCCACGGGGGACCTGGC 0.766000 2 2 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108468989 108468989 + Missense_Mutation SNP A A C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr10:108468989A>C ENST00000263054.6 - 7 1142 c.1135T>G c.(1135-1137)Ttt>Gtt p.F379V SORCS1_ENST00000344440.6_Missense_Mutation_p.F379V NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 379 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACCTGAACAAACACATAATGA 0.418000 3 59 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6241395 6241395 + Missense_Mutation SNP G G T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr18:6241395G>T ENST00000400104.3 - 8 714 c.514C>A c.(514-516)Caa>Aaa p.Q172K L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.Q172K Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 172 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GGAGCATTTTGCAATTTGCAG 0.308000 73 19 1.15773e-35 1.29892e-35 1 1 0 EHD2 30846 broad.mit.edu 37 19 48244389 48244389 + Nonsense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:48244389G>A ENST00000263277.3 + 6 1583 c.1332G>A c.(1330-1332)tgG>tgA p.W444* EHD2_ENST00000538399.1_Nonsense_Mutation_p.W308*|EHD2_ENST00000540884.1_3'UTR NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 444 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) AGGCCGAGTGGGTGGTGACCA 0.647000 6 44 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23716446 23716446 + Silent SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:23716446G>A ENST00000256797.4 - 8 924 c.756C>T c.(754-756)tgC>tgT p.C252C ERN2_ENST00000457008.2_Silent_p.C204C NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 204 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GGCCCATCCCGCAGGACGCCA 0.647000 18 42 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179100469 179100469 + Missense_Mutation SNP T T C TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:179100469T>C ENST00000502732.1 - 3 571 c.368A>G c.(367-369)gAt>gGt p.D123G ABL2_ENST00000504405.1_Missense_Mutation_p.D87G|ABL2_ENST00000344730.3_Missense_Mutation_p.D108G|ABL2_ENST00000367623.4_Missense_Mutation_p.D102G|ABL2_ENST00000408940.3_Missense_Mutation_p.D87G|ABL2_ENST00000512653.1_Missense_Mutation_p.D108G|ABL2_ENST00000392043.3_Missense_Mutation_p.D102G|ABL2_ENST00000511413.1_Missense_Mutation_p.D123G|ABL2_ENST00000507173.1_Missense_Mutation_p.D102G NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 123 SH3. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GAGTGTGTTATCACCACTTGC 0.448000 T ETV6 AML 4 73 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568629 223568629 + Silent SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:223568629C>T ENST00000366875.3 + 1 1915 c.1812C>T c.(1810-1812)tcC>tcT p.S604S NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 604 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) CCAACAGCTCCCTTGATCAGA 0.582000 19 34 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415731 105415731 + Silent SNP C C T rs139340205 by1000genomes TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr14:105415731C>T ENST00000333244.5 - 7 6176 c.6057G>A c.(6055-6057)gaG>gaA p.E2019E AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2019 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) TCACGTCGGCCTCCACCTTGG 0.617000 4 145 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 4 31 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135076222 135076222 + Splice_Site SNP G G T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:135076222G>T ENST00000409645.1 + 5 737 c.483_splice c.e5-1 p.W162_splice MGAT5_ENST00000281923.2_Splice_Site_p.W162_splice Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 162 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TTGTTTCAGTGGATGAAAGAC 0.488000 7 254 0.000274275 0.000277289 1 1 0 DYRK1A 1859 broad.mit.edu 37 21 38884668 38884668 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr21:38884668G>A ENST00000339659.3 + 11 3569 c.2099G>A c.(2098-2100)cGc>cAc p.R700H DYRK1A_ENST00000455387.2_Missense_Mutation_p.R481H|DYRK1A_ENST00000398960.2_Missense_Mutation_p.R709H|DYRK1A_ENST00000338785.3_3'UTR NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 709 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TCCAATCCCCGCCAAGAGACT 0.488000 50 41 0 0 1 0 0 C20orf112 140688 broad.mit.edu 37 20 31035489 31035489 + Silent SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr20:31035489C>T ENST00000359676.5 - 8 1363 c.1221G>A c.(1219-1221)gtG>gtA p.V407V NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 407 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 TGAGCTGCCGCACGGCGCTGA 0.672000 28 30 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 131068482 131068482 + Missense_Mutation SNP C C T rs147225516 TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:131068482C>T ENST00000510688.1 + 16 1927 c.1703C>T c.(1702-1704)gCg>gTg p.A568V NEK11_ENST00000412440.2_Silent_p.S416S|NEK11_ENST00000510769.1_Silent_p.S495S|NEK11_ENST00000508196.1_Silent_p.S600S|RP11-933H2.4_ENST00000502521.1_RNA|RP11-933H2.4_ENST00000513905.1_RNA|NEK11_ENST00000383366.4_Silent_p.S600S|NEK11_ENST00000429253.2_Silent_p.S600S NM_001146003.1 NP_001139475.1 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 0 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AGAATGCTAGCGAAGCAGAGA 0.458000 22 47 0 0 1 0 0 UGT1A8 0 broad.mit.edu 37 2 234526858 234526858 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:234526858G>A ENST00000373450.4 + 1 568 c.505G>A c.(505-507)Gcc>Acc p.A169T NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TGTGGTCTTCGCCAGGGGAAT 0.468000 53 192 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48210912 48210912 + Missense_Mutation SNP G G T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:48210912G>T ENST00000394747.1 - 24 3810 c.3461C>A c.(3460-3462)aCa>aAa p.T1154K ABCC11_ENST00000353782.5_Missense_Mutation_p.T1154K|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1154K|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.T1154K NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1154 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CACGGTGGGTGTGTTGTCTCT 0.557000 20 15 1.56452e-12 1.67368e-12 1 1 0 KRT6C 286887 broad.mit.edu 37 12 52867083 52867083 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:52867083G>A ENST00000252250.6 - 1 486 c.439C>T c.(439-441)Ccc>Tcc p.P147S NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 147 Head. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AGGTTGAGGGGAGTCAGGAGA 0.617000 39 22 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79460508 79460508 + Missense_Mutation SNP T T A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr4:79460508T>A ENST00000264895.6 + 73 11799 c.11359T>A c.(11359-11361)Ttt>Att p.F3787I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3782 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGAGGCTCACTTTGCCTCTGA 0.418000 13 77 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217736 150217736 + Missense_Mutation SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:150217736C>T ENST00000313543.4 + 2 831 c.674C>T c.(673-675)aCt>aTt p.T225I NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 225 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAAATCTACACTGACCAATTA 0.343000 22 36 0 0 1 0 0 C20orf112 140688 broad.mit.edu 37 20 31035488 31035488 + Missense_Mutation SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr20:31035488G>A ENST00000359676.5 - 8 1364 c.1222C>T c.(1222-1224)Cgg>Tgg p.R408W NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 408 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 ATGAGCTGCCGCACGGCGCTG 0.667000 27 29 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95768289 95768289 + Missense_Mutation SNP T T G TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr8:95768289T>G ENST00000414645.2 + 7 736 c.637T>G c.(637-639)Tcc>Gcc p.S213A NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 213 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) AATTGAATACTCCATTCCTTT 0.313000 29 57 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 109807 109807 + Silent SNP G G A TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:109807G>A ENST00000262316.6 - 14 1882 c.1740C>T c.(1738-1740)agC>agT p.S580S NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 580 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity p.S580S(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) GGTTCCCAGCGCTGTTTTTGG 0.592000 27 25 0 0 1 0 0 ZMAT3 64393 broad.mit.edu 37 3 178785379 178785379 + Silent SNP C C T TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:178785379C>T ENST00000311417.2 - 2 903 c.162G>A c.(160-162)tcG>tcA p.S54S ZMAT3_ENST00000432729.1_Silent_p.S54S NM_022470.3 NP_071915.1 Q9HA38 ZMAT3_HUMAN zinc finger, matrin-type 3 54 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1) 14 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) CCCCTCCCTTCGATAACTCTT 0.557000 4 79 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47088034 47088035 + Frame_Shift_Ins INS - - TGTA TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:47088034_47088035insTGTA ENST00000409792.3 - 16 7082_7083 c.7040_7041insTACA c.(7039-7041)cccfs p.P2347fs NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2347 Gln-rich.|Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTGCGGCTGGCTGTACCACCAC 0.455 """N, F, S, Mis""" clear cell renal carcinoma 15 48 --- --- --- --- BRAT1 221927 broad.mit.edu 37 7 2584622 2584622 + Frame_Shift_Del DEL G G - TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:2584622delG ENST00000340611.4 - 4 607 c.351delC c.(349-351)ccfs p.P117fs NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 117 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 TGCGCACGGTGGGGACGGCCC 0.682 2 4 --- --- --- --- RNASEH2B 79621 broad.mit.edu 37 13 51530586 51530587 + Frame_Shift_Ins INS - - A rs75254367 TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr13:51530586_51530587insA ENST00000336617.3 + 11 1314_1315 c.915_916insA c.(913-918)aaaaaafs p.KK305fs RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 305 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) GGGTAAAAAATAAAAAAAAAAT 0.297 3 3 --- --- --- --- LGALS3 3958 broad.mit.edu 37 14 55604096 55604099 + Frame_Shift_Del DEL CAGA CAGA - TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr14:55604096_55604099delCAGA ENST00000254301.9 + 2 266_269 c.5_8delCAGA c.(4-9)gcfs p.AD2fs LGALS3_ENST00000554715.1_Frame_Shift_Del_p.AD2fs|LGALS3_ENST00000553755.1_Intron NM_002306.3 NP_002297.2 P17931 LEG3_HUMAN lectin, galactoside-binding, soluble, 3 2 cell differentiation|innate immune response|mRNA processing|RNA splicing mitochondrial inner membrane|plasma membrane|spliceosomal complex IgE binding|sugar binding central_nervous_system(1)|endometrium(1)|prostate(1) 3 AGGAAAATGGCAGACAATTTTTCG 0.377 21 116 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25328156 25328156 + RNA DEL T T - TCGA-DH-A669-02A-11D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b020b62a-8acf-40d2-97ab-aa870ac61e96 e849abef-b55e-4124-b760-09101a7c4390 g.chr15:25328156delT ENST00000546682.1 + 0 188 SNHG14_ENST00000549804.2_RNA NR_003361.1 TAGGAAATTGTTTTAGGGACT 0.493 5 5 --- --- --- ---