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 ROBO3 64221 broad.mit.edu 37 11 124739959 124739959 + Missense_Mutation SNP T T C TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr11:124739959T>C ENST00000397801.1 + 4 953 c.761T>C c.(760-762)gTa>gCa p.V254A ROBO3_ENST00000538940.1_Missense_Mutation_p.V232A NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 254 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GAAGTCATGGTACTGGGTAGG 0.522000 19 18 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55575675 55575675 + Missense_Mutation SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr4:55575675G>A ENST00000288135.5 + 7 1298 c.1201G>A c.(1201-1203)Gct>Act p.A401T NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 401 Ig-like C2-type 4. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TGACGTCAATGCTGCCATAGC 0.368000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 4 84 0 0 1 0 0 ARID3A 1820 broad.mit.edu 37 19 964334 964334 + Missense_Mutation SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr19:964334C>A ENST00000263620.3 + 5 1180 c.853C>A c.(853-855)Ctc>Atc p.L285I NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 285 ARID. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 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) GAAGGGCGGCCTCGTGGAGGT 0.612000 3 24 0.150653 0.150653 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070173 141070173 + RNA SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr9:141070173G>A ENST00000503395.1 + 0 1253 GGTGAGCTGCGGGCGAGGACT 0.647000 3 32 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135193918 135193918 + Missense_Mutation SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr10:135193918C>A ENST00000278060.5 + 2 680 c.597C>A c.(595-597)agC>agA p.S199R PAOX_ENST00000357296.3_Missense_Mutation_p.S199R|PAOX_ENST00000480071.2_Missense_Mutation_p.S199R|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_Intron NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 337 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GCACCCACAGCATGGACCTGG 0.627000 3 34 0.004672 0.00486667 1 1 0 LRRN2 10446 broad.mit.edu 37 1 204587794 204587794 + Silent SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:204587794G>A ENST00000367175.1 - 1 3539 c.1327C>T c.(1327-1329)Ctg>Ttg p.L443L LRRN2_ENST00000367176.3_Silent_p.L443L|LRRN2_ENST00000367177.3_Silent_p.L443L O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 443 Ig-like C2-type. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) CGGCAATGCAGCACCATGCTC 0.632000 3 30 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99945087 99945087 + Missense_Mutation SNP T T A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chrX:99945087T>A ENST00000372981.1 - 8 979 c.793A>T c.(793-795)Atc>Ttc p.I265F SYTL4_ENST00000454200.2_Missense_Mutation_p.I266F|SYTL4_ENST00000263033.5_Missense_Mutation_p.I265F|SYTL4_ENST00000372989.1_Missense_Mutation_p.I265F|SYTL4_ENST00000276141.6_Missense_Mutation_p.I265F|SYTL4_ENST00000455616.1_Missense_Mutation_p.I265F Q96C24 SYTL4_HUMAN synaptotagmin-like 4 265 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGCCTGAGGATTTTTCTGGTG 0.443000 8 40 0 0 1 0 0 PIF1 80119 broad.mit.edu 37 15 65108897 65108897 + Missense_Mutation SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr15:65108897G>A ENST00000268043.4 - 12 1836 c.1742C>T c.(1741-1743)gCc>gTc p.A581V PIF1_ENST00000559239.1_Missense_Mutation_p.A581V|PIF1_ENST00000333425.6_Missense_Mutation_p.A581V Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 581 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 CCGAGAAAGGGCCACATAGGC 0.622000 8 60 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407310 50407310 + Missense_Mutation SNP C C T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr20:50407310C>T ENST00000217086.4 - 2 1823 c.1712G>A c.(1711-1713)tGc>tAc p.C571Y SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 571 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GACTCGGTGGCAAATGAGACA 0.547000 50 58 0 0 1 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 4 122 0.000602214 0.000716922 1 1 0 KBTBD8 84541 broad.mit.edu 37 3 67054375 67054375 + Silent SNP G G T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr3:67054375G>T ENST00000295568.4 + 3 1037 c.906G>T c.(904-906)ggG>ggT p.G302G KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.G328G NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 328 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GAGAAGTTGGGATTCTTGTAT 0.433000 11 103 0.000978159 0.00111154 1 1 0 EHD2 30846 broad.mit.edu 37 19 48239781 48239781 + Silent SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr19:48239781G>A ENST00000263277.3 + 5 1322 c.1071G>A c.(1069-1071)caG>caA p.Q357Q EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.Q221Q NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 357 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) CTGATTGCCAGAAAATGCAGG 0.532000 16 20 0 0 1 0 0 CROCCP3 114819 broad.mit.edu 37 1 16812092 16812092 + RNA SNP G G A rs3895546 by1000genomes TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:16812092G>A ENST00000263511.4 - 0 1459 NR_023386.1 AGTGAGGTCCGTGTTGACCTG 0.597000 11 7 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124489205 124489205 + Silent SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr11:124489205C>A ENST00000284288.2 + 4 620 c.553C>A c.(553-555)Cga>Aga p.R185R NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 185 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TCGGAAAGAACGATACTTTGA 0.488000 21 28 3.5997e-14 4.49962e-14 1 1 0 MTR 4548 broad.mit.edu 37 1 237024423 237024423 + Splice_Site SNP A A T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:237024423A>T ENST00000366577.5 + 20 2437 c.e20-1 MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.?(1) 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) tgtcttttttAGGGCATTGAA 0.323000 6 17 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40900182 40900182 + Silent SNP C C T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr19:40900182C>T ENST00000324001.7 - 7 4347 c.4077G>A c.(4075-4077)gaG>gaA p.E1359E PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCcctcttcctcctcctcct 0.697000 3 19 0 0 1 0 0 RBM17 84991 broad.mit.edu 37 10 6154185 6154185 + Silent SNP G G A rs148263630 byFrequency TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr10:6154185G>A ENST00000446108.1 + 8 1361 c.717G>A c.(715-717)gcG>gcA p.A239A RBM17_ENST00000379888.4_Silent_p.A239A NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 239 G-patch. mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 GCACGGTGGCGCACAAGATCA 0.557000 3 36 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 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 44 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51121170 51121170 + Missense_Mutation SNP T T C TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:51121170T>C ENST00000396153.2 - 8 1139 c.688A>G c.(688-690)Atc>Gtc p.I230V FAF1_ENST00000371778.4_Missense_Mutation_p.I230V NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 230 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CGAACGGGGATACTTGTAAGG 0.368000 25 5 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36643701 36643703 + In_Frame_Del DEL AGA AGA - rs3045695 TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:36643701_36643703delAGA ENST00000316156.4 + 8 1949_1951 c.1496_1498delAGA c.(1495-1500)gag>g p.EK499del MAP7D1_ENST00000373151.2_In_Frame_Del_p.EK536del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.EK504del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.EK82del Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 536 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCAGTAACGAGAAGGAGTCAGC 0.719 5 2 --- --- --- --- LINC01562 104054213 broad.mit.edu 37 1 51662882 51662882 + RNA DEL A A - TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:51662882delA ENST00000366181.2 - 0 250 p.0?(2) aaataaaaataaaaaaaaaTT 0.502 2 4 --- --- --- --- CSDE1 7812 broad.mit.edu 37 1 115272911 115272912 + Frame_Shift_Ins INS - - C TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:115272911_115272912insC ENST00000438362.2 - 12 1839_1840 c.1461_1462insG c.(1459-1464)ccaaacfs p.N488fs CSDE1_ENST00000358528.4_Frame_Shift_Ins_p.N442fs|CSDE1_ENST00000534699.1_Frame_Shift_Ins_p.N442fs|CSDE1_ENST00000339438.6_Frame_Shift_Ins_p.N411fs|CSDE1_ENST00000530886.1_Frame_Shift_Ins_p.N312fs|CSDE1_ENST00000261443.5_Frame_Shift_Ins_p.N411fs|CSDE1_ENST00000369530.1_Frame_Shift_Ins_p.N457fs NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 442 CSD 6. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTAGTGGTTTTAGGATTGGAAA 0.381 36 8 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220348359 220348359 + Frame_Shift_Del DEL G G - TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr2:220348359delG ENST00000312358.7 + 30 6306 c.6174delG c.(6172-6174)ctfs p.L2058fs AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2058 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGGGAGGCCTGGGTGAGGGCG 0.776 2 4 --- --- --- --- POT1-AS1 401398 broad.mit.edu 37 7 124675408 124675408 + RNA DEL G G - TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr7:124675408delG ENST00000453342.1 + 0 614 TCAGGGAGACGGGGGTCATTa 0.488 2 4 --- --- --- --- MUC2 4583 broad.mit.edu 37 11 1090951 1090951 + Frame_Shift_Del DEL T T - rs72655327 TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr11:1090951delT ENST00000441003.2 + 28 3873 c.3846delT c.(3844-3846)acfs p.T1288fs MUC2_ENST00000359061.5_Frame_Shift_Del_p.T1289fs NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1288 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ccttcaccactaccaccacca 0.617 2 4 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 6 2 --- --- --- --- UBALD1 124402 broad.mit.edu 37 16 4660590 4660591 + Frame_Shift_Ins INS - - C TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr16:4660590_4660591insC ENST00000590965.1 - 2 263_264 c.187_188insG c.(187-189)ctgfs p.L63fs UBALD1_ENST00000283474.7_Intron|UBALD1_ENST00000590891.1_5'UTR|UBALD1_ENST00000587615.1_Intron|UBALD1_ENST00000591401.1_Intron|UBALD1_ENST00000587649.1_Intron|UBALD1_ENST00000591897.1_Intron UBA-like domain containing 1 CACCCTCCAGGCCCCCGCCGGC 0.649 2 4 --- --- --- ---