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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 408 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 5 240 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232275 35232275 + Missense_Mutation SNP T T C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:35232275T>C ENST00000392232.3 + 6 1289 c.1121T>C c.(1120-1122)tTt>tCt p.F374S ZNF181_ENST00000459757.1_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S Q2M3W8 ZN181_HUMAN zinc finger protein 181 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F266S(1) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GGAAAGTCTTTTAGTCGTGTG 0.398000 7 326 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79323771 79323771 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:79323771G>A ENST00000419573.3 - 8 1507 c.1233C>T c.(1231-1233)taC>taT p.Y411Y RASGRF1_ENST00000558480.2_Silent_p.Y411Y|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 411 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGGACTTGGCGTAGTCCAGGC 0.637000 7 52 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926715 130926715 + Silent SNP C C T rs138793493 byFrequency TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr12:130926715C>T ENST00000261655.4 - 8 1294 c.1131G>A c.(1129-1131)tcG>tcA p.S377S RIMBP2_ENST00000536002.1_Silent_p.S285S|RIMBP2_ENST00000535703.1_Silent_p.S285S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 377 Fibronectin type-III 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCAGCTCATCCGAGCTGCCCC 0.637000 39 164 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32486730 32486730 + Missense_Mutation SNP C C T rs139772014 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chrX:32486730C>T ENST00000357033.4 - 23 3253 c.3047G>A c.(3046-3048)cGg>cAg p.R1016Q DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1016 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGATATTTCCGGCTAATTTC 0.433000 16 130 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49935855 49935855 + Silent SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:49935855G>T ENST00000221485.3 - 9 1242 c.1071C>A c.(1069-1071)atC>atA p.I357I SLC17A7_ENST00000543531.1_Silent_p.I345I|SLC17A7_ENST00000600601.1_Silent_p.I290I NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 357 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) TCTGGCCGCCGATGGGCACGA 0.672000 5 101 0.000602214 0.000622628 1 1 0 TNFRSF1B 7133 broad.mit.edu 37 1 12251922 12251922 + Silent SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:12251922G>T ENST00000376259.3 + 4 488 c.399G>T c.(397-399)ggG>ggT p.G133G TNFRSF1B_ENST00000536782.1_Silent_p.G133G|TNFRSF1B_ENST00000492361.1_3'UTR NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 133 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) AGCAGGAGGGGTGCCGGCTGT 0.692000 30 97 1.06801e-11 1.14968e-11 1 1 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 6 386 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37618172 37618172 + Missense_Mutation SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:37618172A>C ENST00000337995.3 + 5 494 c.279A>C c.(277-279)aaA>aaC p.K93N ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGAAGCCAAAGGCAAGATGG 0.368000 9 278 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103057008 103057008 + Missense_Mutation SNP A A T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:103057008A>T ENST00000375735.2 + 42 6815 c.6671A>T c.(6670-6672)cAc>cTc p.H2224L DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2224 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CCAGACTTTCACAAACCTATG 0.393000 4 155 0 0 1 0 0 HIST3H3 8290 broad.mit.edu 37 1 228612733 228612733 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:228612733C>A ENST00000366696.1 - 1 293 c.294G>T c.(292-294)gaG>gaT p.E98D NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 98 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) CCAGGTAAGACTCGCACGCCT 0.602000 26 441 2.24059e-21 2.45526e-21 1 1 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 4 175 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154018452 154018452 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:154018452C>T ENST00000496811.1 - 11 1472 c.1392G>A c.(1390-1392)atG>atA p.M464I DHX36_ENST00000544526.1_Missense_Mutation_p.M464I|DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000308361.6_Missense_Mutation_p.M464I NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 464 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CATCCTCCATCATTTCTATAA 0.313000 29 347 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 8 171 0 0 1 0 0 KRT18P55 0 broad.mit.edu 37 17 26604393 26604393 + RNA SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:26604393A>G ENST00000577198.1 - 0 568 NR_028334.1 AGAGGACAGGACTCAGGTTTT 0.458000 7 306 0 0 1 0 0 LHX6 26468 broad.mit.edu 37 9 124967022 124967022 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:124967022C>T ENST00000340587.3 - 9 1292 c.1092G>A c.(1090-1092)ccG>ccA p.P364P LHX6_ENST00000373755.2_3'UTR|LHX6_ENST00000464484.2_Silent_p.P22P|LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000394319.4_3'UTR|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000373754.2_Silent_p.P335P|LHX6_ENST00000541397.2_Silent_p.P353P NM_199160.3 NP_954629.2 Q9UPM6 LHX6_HUMAN LIM homeobox 6 0 cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 CGGGCAGATGCGGAAGTGCCG 0.682000 30 25 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817138 129817138 + RNA SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:129817138G>A ENST00000507643.1 + 0 720 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups AGAACCTGCGGGAGTCGCAGC 0.522000 6 194 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56423115 56423115 + Missense_Mutation SNP G G C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:56423115G>C ENST00000290649.5 - 9 1468 c.1258C>G c.(1258-1260)Cac>Gac p.H420D NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 420 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TGGAAGAAGTGATTGTGTTGG 0.423000 16 461 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 5 282 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811532 23811532 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:23811532G>A ENST00000314520.3 + 1 1079 c.603G>A c.(601-603)gcG>gcA p.A201A MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 201 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AAAGCTGGGCGGATGCCATTG 0.592000 53 86 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765105 77765105 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:77765105G>A ENST00000521891.2 + 10 6396 c.5948G>A c.(5947-5949)cGt>cAt p.R1983H ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1938 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R1983H(2) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATTTGCTCGTCAATACAGG 0.458000 HNSCC(33;0.089) 49 113 0 0 1 0 0 GNAL 2774 broad.mit.edu 37 18 11752449 11752449 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr18:11752449G>A ENST00000423027.3 + 1 338 c.17G>A c.(16-18)gGc>gAc p.G6D GNAL_ENST00000334049.6_Intron|GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 6 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 TGTTTGGGCGGCAACAGCAAG 0.557000 8 754 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 7 574 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152376273 152376273 + Nonsense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:152376273G>A ENST00000427231.2 - 154 22691 c.22489C>T c.(22489-22491)Cga>Tga p.R7497* NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000172853.10_Nonsense_Mutation_p.R5796*|NEB_ENST00000397345.3_Nonsense_Mutation_p.R7497* NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5796 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AAATTTTCTCGGTATTTAACC 0.353000 5 245 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59404241 59404241 + Silent SNP G G C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:59404241G>C ENST00000301645.3 - 6 1445 c.1308C>G c.(1306-1308)ccC>ccG p.P436P NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 436 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CCGATCCAAAGGGCATGTAGT 0.353000 Neonatal Giant Cell Hepatitis 219 445 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817127 129817127 + RNA SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:129817127A>C ENST00000507643.1 + 0 709 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CCAGTTCCGGAAGAACCTGCG 0.522000 6 214 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99482481 99482481 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:99482481G>A ENST00000268035.6 + 18 3960 c.3349G>A c.(3349-3351)Gga>Aga p.G1117R IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1117 Protein kinase. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TCAGATGGCCGGAGAGATTGC 0.438000 8 431 0 0 1 0 0 MEF2D 4209 broad.mit.edu 37 1 156437921 156437921 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:156437921G>A ENST00000348159.4 - 11 1898 c.1418C>T c.(1417-1419)cCa>cTa p.P473L MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 473 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCCCCGGCTGGGCTGCTGAG 0.706000 18 380 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15841926 15841926 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:15841926C>T ENST00000338282.6 - 17 2264 c.2158G>A c.(2158-2160)Gtc>Atc p.V720I MYH11_ENST00000576790.1_Missense_Mutation_p.V720I|MYH11_ENST00000452625.2_Missense_Mutation_p.V727I|MYH11_ENST00000396324.3_Missense_Mutation_p.V727I|MYH11_ENST00000300036.5_Missense_Mutation_p.V720I NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 720 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCCTGGAAGACGATCCGGTTG 0.647000 T CBFB AML 61 290 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4228226 4228226 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:4228226G>A ENST00000296358.4 - 1 390 c.366C>T c.(364-366)cgC>cgT p.R122R NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 122 biomineral tissue development extracellular space|integral to membrane p.R122R(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTCCTTGAGGCGGAAGAGGC 0.716000 4 44 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 54 147 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651162 1651162 + Missense_Mutation SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:1651162G>T ENST00000399676.2 + 1 130 c.92G>T c.(91-93)tGt>tTt p.C31F NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 31 C -> R (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) tgtggaggctgtggctctggc 0.716000 6 329 0.00448238 0.00458255 1 1 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 8 382 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 153 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 7 258 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37725121 37725121 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr5:37725121G>A ENST00000265107.4 + 16 1839 c.1683G>A c.(1681-1683)tcG>tcA p.S561S NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 561 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCTGAAGTCGCATAAACCTG 0.527000 5 459 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111626165 111626165 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:111626165G>A ENST00000527614.1 - 6 762 c.697C>T c.(697-699)Cgc>Tgc p.R233C PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 233 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) GCAAGGAGGCGCACTGAATCC 0.448000 35 215 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 7 349 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52439281 52439281 + Missense_Mutation SNP C C T rs143891879 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:52439281C>T ENST00000460680.1 - 11 1432 c.961G>A c.(961-963)Gca>Aca p.A321T BAP1_ENST00000296288.5_Missense_Mutation_p.A303T NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 321 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GGGGCTTGTGCGCATGAACCA 0.597000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 6 653 0 0 1 0 0 CGRRF1 10668 broad.mit.edu 37 14 55004518 55004518 + Missense_Mutation SNP T T G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:55004518T>G ENST00000216420.7 + 5 781 c.649T>G c.(649-651)Ttg>Gtg p.L217V CGRRF1_ENST00000557512.1_3'UTR NM_006568.2 NP_006559.1 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 217 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1) 13 ATATTTACTCTTGGCTCAAGG 0.338000 102 260 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513734 14513734 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr18:14513734C>T ENST00000358970.5 - 10 1459 c.1460G>A c.(1459-1461)gGa>gAa p.G487E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 487 p.G487E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGTGATATTCCAGTGTTCTG 0.323000 5 409 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628273 29628273 + Missense_Mutation SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:29628273A>G ENST00000278882.3 + 6 655 c.275A>G c.(274-276)aAt>aGt p.N92S FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S|FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTAGATGCAATGAAGCAGGG 0.373000 7 500 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44104721 44104721 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:44104721C>A ENST00000361807.3 + 4 364 c.170C>A c.(169-171)cCa>cAa p.P57Q ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TCTTCCAAACCAAAACTAATT 0.468000 4 189 0.00909568 0.00919618 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628270 29628270 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:29628270G>A ENST00000278882.3 + 6 652 c.272G>A c.(271-273)tGc>tAc p.C91Y FRG1B_ENST00000358464.4_Missense_Mutation_p.C91Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.C96Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTATTAGATGCAATGAAGCA 0.363000 8 510 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155575617 155575617 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:155575617C>T ENST00000461783.3 + 28 5651 c.4378C>T c.(4378-4380)Cgt>Tgt p.R1460C TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1460 PH 2. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAACTTCAGGCGTCACATAAA 0.458000 81 226 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817144 129817144 + RNA SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:129817144G>T ENST00000507643.1 + 0 726 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups TGCGGGAGTCGCAGCAGCTCT 0.527000 6 180 2.80697e-09 3.00395e-09 1 1 0 QSER1 79832 broad.mit.edu 37 11 32956817 32956817 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:32956817G>A ENST00000399302.2 + 4 3961 c.3626G>A c.(3625-3627)gGt>gAt p.G1209D QSER1_ENST00000527788.1_Missense_Mutation_p.G970D NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1209 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) GAAACTGGCGGTAACAGTCCA 0.423000 7 731 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56015735 56015735 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:56015735C>A ENST00000327381.5 + 1 787 c.687C>A c.(685-687)agC>agA p.S229R NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 229 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CGGCCAACAGCGGCAGCAACA 0.647000 63 169 8.95546e-19 9.75505e-19 1 1 0 ASPA 443 broad.mit.edu 37 17 3397713 3397713 + Missense_Mutation SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:3397713A>G ENST00000263080.2 + 5 862 c.704A>G c.(703-705)gAa>gGa p.E235G ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 235 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) CCCCGGGATGAAAATGGAGAA 0.343000 12 876 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618819 141618819 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:141618819C>T ENST00000548136.1 + 1 203 c.144C>T c.(142-144)gtC>gtT p.V48V MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TCATGATTGTCTGTGTGGATA 0.453000 20 690 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30926703 30926703 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:30926703C>A ENST00000597505.1 - 29 4112 c.4113G>T c.(4111-4113)ttG>ttT p.L1371F DCDC1_ENST00000406071.2_Missense_Mutation_p.L106F|DCDC1_ENST00000339794.5_Missense_Mutation_p.L450F P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGTCACACGACAAATCAACCt 0.363000 22 41 8.10497e-08 8.57347e-08 1 1 0 IYD 389434 broad.mit.edu 37 6 150715311 150715311 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:150715311G>A ENST00000344419.3 + 4 747 c.607G>A c.(607-609)Gca>Aca p.A203T IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 203 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TGGTTTCGCCGCAAATGGCAA 0.433000 6 437 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244180 56244180 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:56244180C>T ENST00000332836.2 - 2 1044 c.1017G>A c.(1015-1017)acG>acA p.T339T NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 339 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CCAACCAGCACGTAAAGGGAT 0.413000 99 470 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 4 22 0 0 1 0 0 XIST 0 broad.mit.edu 37 X 73065231 73065231 + RNA SNP T T C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chrX:73065231T>C ENST00000429829.1 - 0 7357 NR_001564.2 TGTGCAGTTATGCACATTCAT 0.498000 5 392 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436797 179436797 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:179436797G>A ENST00000589042.1 - 326 74286 c.74062C>T c.(74062-74064)Cgt>Tgt p.R24688C TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15623C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23047C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23047 Fibronectin type-III 79. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGAAACACGGAAAGAGTAT 0.478000 43 134 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 11 469 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193207 128193207 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:128193207G>A ENST00000284694.7 - 3 682 c.562C>T c.(562-564)Cgg>Tgg p.R188W C10orf90_ENST00000544758.1_Missense_Mutation_p.R285W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R188W|C10orf90_ENST00000356858.3_Missense_Mutation_p.R141W|C10orf90_ENST00000392694.1_Missense_Mutation_p.R141W|C10orf90_ENST00000368674.1_5'UTR NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 188 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CTCTGATGCCGACCTGGATGG 0.627000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 555 0 0 1 0 0 ALG1L 200810 broad.mit.edu 37 3 125649457 125649457 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:125649457C>T ENST00000340333.3 - 5 454 c.291G>A c.(289-291)gtG>gtA p.V97V NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 97 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 CTTCATGTTTCACCAGCTCAT 0.597000 14 198 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22737642 22737642 + RNA SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:22737642G>T ENST00000503442.1 + 0 188 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTGTGTCTGGGACACATTTAC 0.448000 75 136 7.577e-32 8.35296e-32 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 6 384 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 5 295 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94376883 94376883 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:94376883G>A ENST00000282020.4 + 11 1874 c.1616G>A c.(1615-1617)cGt>cAt p.R539H GRID2_ENST00000510992.1_Missense_Mutation_p.R444H NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 539 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTTACGACACGTTACATGGAC 0.443000 9 386 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44223304 44223304 + Nonstop_Mutation SNP A A T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:44223304A>T ENST00000393810.1 - 3 426 c.283T>A c.(283-285)Tga>Aga p.*95R SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Silent_p.G53G|SLC35B2_ENST00000393812.3_Silent_p.G146G|SLC35B2_ENST00000537814.1_Silent_p.G13G Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 0 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TAAAGCGCTCACCCGGTGATG 0.572000 103 204 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 12 95 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95572489 95572489 + Missense_Mutation SNP T T A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:95572489T>A ENST00000526495.1 - 20 3167 c.2876A>T c.(2875-2877)aAa>aTa p.K959I DICER1_ENST00000343455.3_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 959 PAZ. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGAAGGAAATTTACTGAGTGG 0.373000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 24 454 0 0 1 0 0 EMP3 2014 broad.mit.edu 37 19 48833591 48833591 + Missense_Mutation SNP C C G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:48833591C>G ENST00000270221.6 + 5 657 c.356C>G c.(355-357)gCc>gGc p.A119G EMP3_ENST00000596315.1_Missense_Mutation_p.A50G|EMP3_ENST00000597279.1_Missense_Mutation_p.A119G NM_001425.2 NP_001416.1 P54852 EMP3_HUMAN epithelial membrane protein 3 119 cell growth|negative regulation of cell proliferation integral to membrane lung(1) 1 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) TTGATCTATGCCATTCACGCC 0.607000 169 356 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124323215 124323215 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr12:124323215C>T ENST00000409039.3 + 28 4786 c.4761C>T c.(4759-4761)tgC>tgT p.C1587C NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1587 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACCCACTCTGCGTCCAGGAGC 0.537000 20 423 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36104957 36104957 + Missense_Mutation SNP C C G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:36104957C>G ENST00000203166.5 + 4 240 c.215C>G c.(214-216)cCa>cGa p.P72R HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 72 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle p.P72L(1) NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 CAGGACAGTCCACAGGTGAGA 0.537000 24 307 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86693827 86693827 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:86693827C>T ENST00000409556.1 + 11 1705 c.1340C>T c.(1339-1341)tCg>tTg p.S447L KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 447 S -> P (in dbSNP:rs34605051). androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 CCTTCCCCATCGGATGTTTCA 0.448000 28 480 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21544779 21544779 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:21544779C>T ENST00000298694.4 + 7 2021 c.1894C>T c.(1894-1896)Cca>Tca p.P632S ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P632S Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 632 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TGATGACCTTCCAACTGAACT 0.517000 8 472 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 7 337 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 8 121 0 0 1 0 0 PPP1R3C 5507 broad.mit.edu 37 10 93389939 93389939 + Missense_Mutation SNP C C G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:93389939C>G ENST00000238994.5 - 2 783 c.699G>C c.(697-699)gaG>gaC p.E233D NM_005398.5 NP_005389.1 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory subunit 3C 233 CBM21.|Interaction with EPM2A. protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1) 12 Colorectal(252;0.235) AAATGCAGAACTCAATTTTCT 0.408000 9 484 0 0 1 0 0 LRRC17 10234 broad.mit.edu 37 7 102585031 102585031 + Missense_Mutation SNP G G A rs117261467 byFrequency TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:102585031G>A ENST00000339431.4 + 4 1598 c.1303G>A c.(1303-1305)Gta>Ata p.V435I FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 435 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 GAAGCAAAGCGTAATAATTAC 0.318000 73 229 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543578 141543578 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:141543578C>T ENST00000442267.2 - 21 3646 c.3572G>A c.(3571-3573)cGg>cAg p.R1191Q NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1191 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CTGGCCGCTCCGCACCAGGAC 0.662000 11 115 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606544 21606544 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:21606544C>T ENST00000392288.2 + 4 1192 c.1083C>T c.(1081-1083)tcC>tcT p.S361S ZNF493_ENST00000355504.4_Silent_p.S233S|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCCTCACACCTTA 0.358000 5 482 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113678964 113678964 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr13:113678964G>A ENST00000397030.1 + 3 306 c.269G>A c.(268-270)cGg>cAg p.R90Q MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R87Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 87 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCAGGTGGGCGGGGGCAGGAC 0.612000 26 400 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 9 245 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215891634 215891634 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:215891634C>T ENST00000272895.7 - 10 1309 c.1090G>A c.(1090-1092)Gcc>Acc p.A364T AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 364 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTTAAGAGGGCATCTTCAAAG 0.353000 139 531 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414298 20414298 + Silent SNP A A G rs143254940 byFrequency TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:20414298A>G ENST00000380338.4 - 5 832 c.546T>C c.(544-546)agT>agC p.S182S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S179S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 182 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.522000 T MLL ALL 7 725 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806606 21806606 + Missense_Mutation SNP T T G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:21806606T>G ENST00000318220.6 + 14 2151 c.1103T>G c.(1102-1104)tTt>tGt p.F368C NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 424 NBPF 2. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTGGATAGATTTTATTCAACT 0.468000 8 239 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145324377 145324377 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:145324377C>A ENST00000342960.5 + 28 3607 c.3572C>A c.(3571-3573)gCg>gAg p.A1191E NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1191 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) GAGGTAGTAGCGCCTGAAGTC 0.483000 4 51 0.150653 0.151481 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151933008 151933008 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:151933008G>A ENST00000355193.2 - 16 2881 c.2663C>T c.(2662-2664)tCt>tTt p.S888F KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F lysine (K)-specific methyltransferase 2C TGGAAATCCAGACCCACGGCC 0.453000 13 262 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:7578235T>G ENST00000420246.2 - 6 746 c.614A>C c.(613-615)tAt>tCt p.Y205S TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 205 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCATCCAAATACTCCACACG 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 73 83 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86961301 86961301 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:86961301C>T ENST00000234701.3 + 13 2407 c.2056C>T c.(2056-2058)Cgg>Tgg p.R686W CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W A8K7I4 CLCA1_HUMAN chloride channel accessory 1 686 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CGCAGCCAGACGGAGAGTGAT 0.453000 47 147 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770055 31770055 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:31770055C>T ENST00000240587.4 - 2 971 c.644G>A c.(643-645)cGc>cAc p.R215H NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 215 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTCCTTACAGCGGAACTTGCT 0.612000 24 505 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150527952 150527952 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:150527952C>T ENST00000271643.4 + 8 1518 c.1282C>T c.(1282-1284)Cgc>Tgc p.R428C RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 428 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCGTGGCTTCCGCTTCTATGT 0.607000 8 191 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12883530 12883530 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:12883530G>A ENST00000379672.5 + 19 2219 c.1919G>A c.(1918-1920)aGt>aAt p.S640N ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S640N|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S634N NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 640 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GCAGACCAGAGTCCTCACACC 0.642000 54 72 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161146937 161146937 + RNA SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:161146937G>A ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 AATTTTGTTGGCAACATCCAA 0.378000 7 371 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414334 20414334 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:20414334G>A ENST00000380338.4 - 5 796 c.510C>T c.(508-510)agC>agT p.S170S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S167S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 170 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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) tgctgctgctgctgctgctac 0.537000 T MLL ALL 7 488 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62455974 62455974 + Missense_Mutation SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:62455974A>C ENST00000371158.2 + 28 3919 c.3805A>C c.(3805-3807)Att>Ctt p.I1269L INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.I53L|INADL_ENST00000316485.6_Missense_Mutation_p.I1269L NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1269 PDZ 7. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TGTGGTGGGAATTAACCCGGA 0.428000 15 268 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197889248 197889248 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:197889248C>T ENST00000367390.3 + 3 321 c.294C>T c.(292-294)tcC>tcT p.S98S LHX9_ENST00000367391.1_Silent_p.S98S|LHX9_ENST00000367387.4_Silent_p.S107S|LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000337020.2_Silent_p.S107S NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 107 LIM zinc-binding 1. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.S107S(1)|p.S98S(1) endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 CCCTCGAGTCCGAGCTCACCT 0.557000 14 1352 0 0 1 0 0 USP10 9100 broad.mit.edu 37 16 84806216 84806216 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:84806216G>A ENST00000219473.7 + 12 2181 c.2068G>A c.(2068-2070)Gtt>Att p.V690I USP10_ENST00000570191.1_Missense_Mutation_p.V694I NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 690 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 GAAACGATTCGTTTATGAGAA 0.443000 164 432 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991818 21991818 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:21991818G>A ENST00000594012.1 - 7 1517 c.1003C>T c.(1003-1005)Ccc>Tcc p.P335S ZNF43_ENST00000354959.4_Missense_Mutation_p.P341S|ZNF43_ENST00000598381.1_Missense_Mutation_p.P335S|ZNF43_ENST00000595461.1_Missense_Mutation_p.P335S NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CATGTGTAGGGTTTCTCTCCA 0.383000 6 431 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144759999 144759999 + Missense_Mutation SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:144759999A>C ENST00000367545.3 + 11 1360 c.1360A>C c.(1360-1362)Aaa>Caa p.K454Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 454 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TGATGATGTAAAATCTCTACA 0.433000 65 148 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 5 303 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160517606 160517606 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:160517606C>T ENST00000356956.1 + 45 6939 c.6791C>T c.(6790-6792)gCc>gTc p.A2264V IGF2R_ENST00000475584.1_3'UTR NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2264 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CACGAGACTGCCGACTGCCAG 0.537000 5 381 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S 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 8 453 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40030190 40030190 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:40030190G>A ENST00000352035.2 - 23 2646 c.2516C>T c.(2515-2517)tCg>tTg p.S839L ACLY_ENST00000590151.1_Missense_Mutation_p.S839L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L|ACLY_ENST00000393896.2_Missense_Mutation_p.S829L NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 839 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) GGTCATGAACGAGGCAGGTTT 0.587000 82 135 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 13 546 0 0 1 0 0 RPL32 6161 broad.mit.edu 37 3 12877678 12877678 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:12877678C>T ENST00000429711.2 - 4 422 c.323G>A c.(322-324)cGc>cAc p.R108H RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000396957.1_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H|RPL32_ENST00000273223.6_Missense_Mutation_p.R126H NM_000994.3 NP_000985.1 P62910 RL32_HUMAN ribosomal protein L32 108 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 GATGGCTTTGCGGTTCTTGGA 0.507000 5 331 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390445 45390445 + Silent SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:45390445A>G ENST00000371438.1 + 2 532 c.174A>G c.(172-174)caA>caG p.Q58Q RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 58 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 6 147 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12869094 12869094 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:12869094C>T ENST00000456430.2 + 13 3407 c.3366C>T c.(3364-3366)taC>taT p.Y1122Y CAND2_ENST00000295989.5_Silent_p.Y1005Y NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 1122 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGGACCACTACGACATCCGGG 0.562000 69 236 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327998 57327998 + Silent SNP G G A rs143113379 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:57327998G>A ENST00000326441.9 - 10 2175 c.1812C>T c.(1810-1812)cgC>cgT p.R604R ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.R480R|PEG3_ENST00000593695.1_Silent_p.R478R NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 604 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGGTTTCCCCGCGCtcacgtt 0.463000 7 181 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 11 1257 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:102305092A>G ENST00000561463.1 + 0 13138 CATGAACACCATCAGCACAGC 0.632000 4 95 0 0 1 0 0 C9orf139 401563 broad.mit.edu 37 9 139929195 139929195 + Missense_Mutation SNP T T A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:139929195T>A ENST00000314330.2 + 3 1776 c.262T>A c.(262-264)Tgt>Agt p.C88S NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 88 cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) CCTTCCTGTTTGTGCTGCCAG 0.677000 175 178 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481888 142481888 + RNA SNP T T C rs138077672 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:142481888T>C ENST00000603901.1 + 0 567 NR_001296.3 TGGGCTTCCTTGAGGGAGGCA 0.522000 10 387 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242271086 242271086 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:242271086C>T ENST00000442594.2 - 9 1359 c.850G>A c.(850-852)Gtt>Att p.V284I PLD5_ENST00000536534.1_Missense_Mutation_p.V376I|PLD5_ENST00000427495.1_Missense_Mutation_p.V314I NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 376 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CGAACTCTAACGCTTCGTAAA 0.358000 150 444 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27356274 27356274 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:27356274C>A ENST00000395762.2 + 5 553 c.294C>A c.(292-294)aaC>aaA p.N98K IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000449195.1_Missense_Mutation_p.N98K|IL4R_ENST00000170630.2_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 98 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GTGCGGATAACTATACACTGG 0.642000 110 326 3.35719e-51 3.74614e-51 1 1 0 TSHZ3 57616 broad.mit.edu 37 19 31769290 31769290 + Missense_Mutation SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:31769290A>C ENST00000240587.4 - 2 1736 c.1409T>G c.(1408-1410)gTc>gGc p.V470G NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 470 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTCCTTCTTGACCTCCACATT 0.532000 139 764 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31575880 31575880 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:31575880C>T ENST00000399332.1 - 38 7686 c.7198G>A c.(7198-7200)Ggg>Agg p.G2400R HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2400 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AGTGGAGGCCCAGAACCTGAT 0.378000 9 375 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 4 191 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 7 235 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69033248 69033248 + Missense_Mutation SNP C C T rs143386950 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:69033248C>T ENST00000288368.4 + 30 3965 c.3688C>T c.(3688-3690)Cgg>Tgg p.R1230W NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1230 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CAGCAGCGTCCGGACTCTTGC 0.383000 120 238 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 5 251 0.184627 0.184627 1 1 0 PCBP3 54039 broad.mit.edu 37 21 47355186 47355186 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr21:47355186G>A ENST00000400314.1 + 14 1214 c.876G>A c.(874-876)ccG>ccA p.P292P PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Silent_p.P272P|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400309.1_Silent_p.P291P|PCBP3_ENST00000400304.1_Silent_p.P282P|PCBP3_ENST00000400308.1_Silent_p.P266P P57721 PCBP3_HUMAN poly(rC) binding protein 3 292 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CCAGCCCACCGGCCAGCACTC 0.582000 20 79 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108746697 108746697 + Silent SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:108746697G>T ENST00000232603.5 - 17 1687 c.1605C>A c.(1603-1605)ggC>ggA p.G535G MORC1_ENST00000483760.1_Silent_p.G535G NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 535 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGCTCATGGTGCCCAGTGGGA 0.398000 12 266 1.08611e-07 1.14229e-07 1 1 0 WNT3A 89780 broad.mit.edu 37 1 228238515 228238515 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:228238515G>A ENST00000284523.1 + 3 550 c.472G>A c.(472-474)Gac>Aac p.D158N WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 158 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CTGTAGCGAGGACATCGAGTT 0.657000 18 283 0 0 1 0 0 LILRA3 0 broad.mit.edu 37 19 54803682 54803682 + Silent SNP T T G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:54803682T>G ENST00000391745.1 - 7 509 c.193A>C c.(193-195)Agg>Cgg p.R65R LILRA3_ENST00000251390.3_Silent_p.R48R|LILRA3_ENST00000391744.3_Silent_p.R48R leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCCTGACACCTGAGGGTCACA 0.547000 135 239 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140406735 140406735 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:140406735C>T ENST00000286349.3 + 3 1402 c.1211C>T c.(1210-1212)tCc>tTc p.S404F NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 404 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CTAGAAGTGTCCAGGCAGAAG 0.433000 89 220 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 7 534 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90432759 90432759 + Missense_Mutation SNP T T C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:90432759T>C ENST00000369393.3 - 40 5997 c.5882A>G c.(5881-5883)gAc>gGc p.D1961G MDN1_ENST00000428876.1_Missense_Mutation_p.D1961G Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1961 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGGGGACTGGTCAACCAGCAT 0.478000 7 805 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34878358 34878358 + Nonsense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr21:34878358G>A ENST00000381831.3 - 19 2769 c.2506C>T c.(2506-2508)Caa>Taa p.Q836* GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*|GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836* NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 836 GART. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) ATATCAATTTGTGCAGAGCTA 0.418000 6 387 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32820990 32820990 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:32820990C>T ENST00000354258.4 - 1 765 c.604G>A c.(604-606)Gtc>Atc p.V202I PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 202 antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 GCATAACTGACAACGAAGGCG 0.657000 6 56 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31538269 31538269 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr18:31538269G>A ENST00000261592.5 - 7 1467 c.1170C>T c.(1168-1170)gaC>gaT p.D390D NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000535475.1_Silent_p.D235D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000538587.1_Silent_p.D316D|NOL4_ENST00000535384.1_Silent_p.D105D NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 390 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 AATCGTCATGGTCCTCGTGGT 0.493000 23 469 0 0 1 0 0 CNBP 7555 broad.mit.edu 37 3 128889325 128889325 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:128889325G>A ENST00000422453.2 - 5 665 c.505C>T c.(505-507)Cgg>Tgg p.R169W CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W NM_001127192.1|NM_001127193.1|NM_003418.4 NP_001120664.1|NP_001120665.1|NP_003409.1 P62633 CNBP_HUMAN CCHC-type zinc finger, nucleic acid binding protein 169 cholesterol biosynthetic process endoplasmic reticulum DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding biliary_tract(1)|endometrium(1)|kidney(1)|lung(2) 5 GTGCATTCCCGTGCAAGGTGC 0.448000 6 757 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 8 470 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 7 194 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 9 452 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 9 146 4.68919e-08 4.98908e-08 1 1 0 PCDHB13 0 broad.mit.edu 37 5 140594777 140594777 + Missense_Mutation SNP C C T rs148992616 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr5:140594777C>T ENST00000341948.4 + 1 1269 c.1082C>T c.(1081-1083)gCg>gTg p.A361V NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 361 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.A361V(1) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGAGAACGCGCCTGAAACT 0.448000 28 1028 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 7 19 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 9 903 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 8 909 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 7 245 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155450526 155450527 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:155450526_155450527insT ENST00000368346.3 - 3 2773_2774 c.2134_2135insA c.(2134-2136)aaafs p.K712fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K712fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 712 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCTTCCTTTTCTTTTTTTTAAT 0.401 7 555 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044104 161044106 + In_Frame_Del DEL CCA CCA - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:161044104_161044106delCCA ENST00000368012.3 - 6 1360_1362 c.1058_1060delTGG c.(1057-1062)ggt>g p.VG353del PVRL4_ENST00000453926.2_In_Frame_Del_p.VG87del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 353 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCGATCACACCCACCACCACCAC 0.606 11 693 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 7 371 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 8 1030 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248617054 248617055 + Frame_Shift_Ins INS - - TG rs143403968 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:248617054_248617055insTG ENST00000342927.3 + 1 978_979 c.956_957insTG c.(955-957)agtfs p.S319fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGGTGGCGACTGTGATCAGGA 0.554 7 397 --- --- --- --- ANKRD36C 400986 broad.mit.edu 37 2 96525717 96525718 + Frame_Shift_Ins INS - - T rs77057279 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:96525717_96525718insT ENST00000456556.1 - 61 3871_3872 c.3787_3788insA c.(3787-3789)gaafs p.E1263fs ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 CTTATTTTTCAGTTTTCGAATT 0.282 4 2 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 15 528 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 7 201 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:150877786delC ENST00000474524.1 + 7 1043 c.1005delC c.(1003-1005)ggfs p.G335fs MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGCCCTGGCCCCCCCGGCC 0.582 8 743 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 11 363 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 8 158 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr5:121356129_121356130insA ENST00000339397.4 + 6 771_772 c.699_700insA c.(697-702)acaaaafs p.TK233fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TAAGTCAAACCAAAAAAAACAA 0.401 9 559 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 8 1077 --- --- --- --- CPLX2 10814 broad.mit.edu 37 5 175306965 175306967 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr5:175306965_175306967delGAG ENST00000359546.4 + 5 965_967 c.322_324delGAG c.(322-324)del p.E114del CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del|CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 114 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTGCGGGGACGAGGAGGAGGAGG 0.645 7 141 --- --- --- --- KIF13A 63971 broad.mit.edu 37 6 17837307 17837308 + Frame_Shift_Ins INS - - C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:17837307_17837308insC ENST00000378814.5 - 11 955_956 c.956_957insG c.(955-957)gaafs p.E319fs KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 319 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTTGGCTGTTGCCCCCCAAGTT 0.450 29 506 --- --- --- --- OR2J1 442185 broad.mit.edu 37 6 29069580 29069580 + Frame_Shift_Del DEL C C - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:29069580delC ENST00000377171.3 + 1 1195 c.861delC c.(859-861)aafs p.N287fs olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene) breast(1)|lung(6) 7 CTAGTCTTAACCCTCTAATCT 0.448 48 202 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29761627 29761627 + RNA DEL T T - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:29761627delT ENST00000457107.1 + 0 853 ccccttgtcctgttgtaagtg 0.502 7 84 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 8 435 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508369 71508370 + Frame_Shift_Ins INS - - A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:71508369_71508370insA ENST00000370455.3 + 6 753_754 c.505_506insA c.(505-507)aaafs p.K169fs SMAP1_ENST00000370452.3_Frame_Shift_Ins_p.K142fs|SMAP1_ENST00000316999.5_Frame_Shift_Ins_p.K142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 gaaagaaaaggaaaaaaaaaag 0.287 13 54 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 8 305 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64532452 64532452 + RNA DEL T T - rs67432959 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:64532452delT ENST00000426828.1 + 0 1228 NR_033416.1 atgcccagccttttttttttt 0.408 8 11 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 8 634 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 10 518 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 16 9 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:123332839_123332841delAGG ENST00000223023.4 - 9 1239_1241 c.907_909delCCT c.(907-909)del p.P303del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 303 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity p.P303A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCCCCTagcaggaggaggagga 0.616 8 353 --- --- --- --- SGK223 0 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 44 99 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 7 1608 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 7 707 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 7 385 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 7 272 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 8 771 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 19 213 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 7 275 --- --- --- --- C9orf69 90120 broad.mit.edu 37 9 139008444 139008446 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:139008444_139008446delCAG ENST00000561457.1 - 2 825_827 c.375_377delCTG c.(373-378)tgg>tg p.CW125del C9orf69_ENST00000418388.1_In_Frame_Del_p.L101del NM_152833.2 NP_690046.3 chromosome 9 open reading frame 69 endometrium(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06) GCCGGCGGCCCAGCAGCAGCAGC 0.685 7 105 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103901076 103901077 + Frame_Shift_Ins INS - - C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:103901076_103901077insC ENST00000278070.2 + 5 2850_2851 c.2811_2812insC c.(2809-2814)ctccccfs p.LP937fs PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 937 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATCCTTGCCTGCCCCCCCCACC 0.604 9 270 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123988974 123988974 + Frame_Shift_Del DEL C C - rs147846497 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:123988974delC ENST00000369005.1 + 15 8350 c.8010delC c.(8008-8010)aafs p.N2670fs TACC2_ENST00000369004.3_Frame_Shift_Del_p.N760fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.N760fs|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000360561.3_Frame_Shift_Del_p.N748fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.N2670fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.N816fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.N816fs|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000260733.3_Frame_Shift_Del_p.N748fs|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000515603.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2670 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAGAAAAGAACCCCCCACTAT 0.542 8 2219 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129902204 129902205 + Frame_Shift_Del DEL TG TG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:129902204_129902205delTG ENST00000368654.3 - 13 8274_8275 c.7899_7900delCA c.(7897-7902)caaafs p.HK2633fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2633 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCTGGTTCTTTGTGTGTGTGTG 0.500 10 480 --- --- --- --- DENND5A 23258 broad.mit.edu 37 11 9199797 9199799 + In_Frame_Del DEL ATC ATC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:9199797_9199799delATC ENST00000328194.3 - 8 2106_2108 c.1786_1788delGAT c.(1786-1788)del p.D596del DENND5A_ENST00000530044.1_In_Frame_Del_p.D596del NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 596 Poly-Asp. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CAGGGTCTTTATCATCATCATCA 0.453 8 723 --- --- --- --- SWAP70 23075 broad.mit.edu 37 11 9735070 9735070 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:9735070delA ENST00000318950.6 + 3 401 c.298delA c.(298-300)aafs p.K101fs SWAP70_ENST00000447399.2_Intron NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 101 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) CCTCTGTGTCAAAAAAAACCT 0.343 7 468 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 11 750 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 11 639 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 8 309 --- --- --- --- PUS3 83480 broad.mit.edu 37 11 125763815 125763816 + Frame_Shift_Ins INS - - TCAA TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:125763815_125763816insTCAA ENST00000227474.3 - 4 1407_1408 c.1310_1311insTTGA c.(1309-1311)gcafs p.A437fs HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Frame_Shift_Ins_p.A437fs NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597.3 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 437 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) AATGTGGGTGCTCAATTCGTCC 0.465 284 694 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671804 25671806 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr13:25671804_25671806delGCT ENST00000281589.3 + 1 1505_1507 c.1468_1470delGCT c.(1468-1470)del p.A496del NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 496 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGTCctgcagctgctgctgctg 0.532 11 301 --- --- --- --- SDR39U1 56948 broad.mit.edu 37 14 24910070 24910073 + Frame_Shift_Del DEL AGTC AGTC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:24910070_24910073delAGTC ENST00000554698.1 - 3 571_574 c.64_67delGACT c.(64-69)ttfs p.DF22fs SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000538105.2_Frame_Shift_Del_p.DF48fs|SDR39U1_ENST00000399390.1_Frame_Shift_Del_p.DF35fs|KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399395.3_Frame_Shift_Del_p.DF130fs Q9NRG7 D39U1_HUMAN short chain dehydrogenase/reductase family 39U, member 1 156 binding NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1) 5 TTGGAGAAAAAGTCAAAGTCCCCT 0.559 74 245 --- --- --- --- DAAM1 23002 broad.mit.edu 37 14 59787235 59787237 + In_Frame_Del DEL GAA GAA - rs141935137 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:59787235_59787237delGAA ENST00000395125.1 + 4 396_398 c.373_375delGAA c.(373-375)del p.E129del DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 129 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding 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) TTTAGAGAAGGAAGAAGAAGAAG 0.325 10 404 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 7 178 --- --- --- --- SPG11 80208 broad.mit.edu 37 15 44907750 44907750 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:44907750delA ENST00000261866.7 - 16 2865 c.2849delT c.(2848-2850)tgfs p.L950fs SPG11_ENST00000535302.2_Frame_Shift_Del_p.L950fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.L950fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.L950fs NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 950 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TTCAGATGCCAAAAAAACCCC 0.403 8 288 --- --- --- --- RFX7 64864 broad.mit.edu 37 15 56387062 56387067 + In_Frame_Del DEL GTGGGT GTGGGT - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:56387062_56387067delGTGGGT ENST00000423270.1 - 9 2858_2863 c.2859_2864delACCCAC c.(2857-2865)act>ac p.TPT953del RFX7_ENST00000559447.2_In_Frame_Del_p.TPT856del|RFX7_ENST00000317318.6_In_Frame_Del_p.TPT953del|RFX7_ENST00000422057.1_In_Frame_Del_p.TPT856del NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 856 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 tggagtAGGAgtgggtgtgggtgtgg 0.553 12 16 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64972995 64972997 + In_Frame_Del DEL CAC CAC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:64972995_64972997delCAC ENST00000326648.3 + 7 4224_4226 c.4096_4098delCAC c.(4096-4098)del p.H1371del NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1371 Poly-His. nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATGTCCACACACCACCACCACC 0.591 7 518 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 7 122 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102304934 102304936 + RNA DEL TCT TCT - rs72450638 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:102304934_102304936delTCT ENST00000561463.1 + 0 12980_12982 AAGGAGTTCATCTTCTCAGAGCT 0.586 8 98 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 7 190 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 10 3323 --- --- --- --- HIRIP3 8479 broad.mit.edu 37 16 30005972 30005972 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:30005972delT ENST00000279392.3 - 4 1324 c.494delA c.(493-495)agfs p.K165fs HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 165 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 CTTGTACCCCTTTTCCTCCTC 0.577 7 1605 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 13 348 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 9 609 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 9 474 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 8 242 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 7 167 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 10 1749 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 7 425 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81161713 81161713 + RNA DEL A A - rs113658800 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:81161713delA ENST00000534142.1 - 0 432 PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAATCAAAATAATCTTAACAC 0.438 8 11 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 7 122 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 8 658 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 8 1115 --- --- --- --- TCEB3CL2 100506888 broad.mit.edu 37 18 44543098 44543099 + Frame_Shift_Ins INS - - GC TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr18:44543098_44543099insGC ENST00000591973.2 - 1 1508_1509 c.1273_1274insGC c.(1273-1275)gcgfs p.A425fs KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_001242907.1 NP_001229836.1 transcription elongation factor B polypeptide 3C-like 2 TCGCAGCCGCTGCTCTCGGGCG 0.554 11 128 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 7 175 --- --- --- --- PSG9 5678 broad.mit.edu 37 19 43763170 43763170 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:43763170delT ENST00000418820.2 - 3 646 c.548delA c.(547-549)acfs p.N183fs PSG9_ENST00000270077.3_Frame_Shift_Del_p.N276fs|PSG9_ENST00000443718.3_Frame_Shift_Del_p.N183fs|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 183 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GCTCTGACCGTTTAGCCACCA 0.473 7 1425 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 10 569 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 9 205 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 17 1744 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15441192 15441193 + RNA INS - - T rs148464975 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr21:15441192_15441193insT ENST00000428809.1 + 0 177 TGTATTTTGAATTCTTGGAATT 0.361 7 365 --- --- --- --- DGCR5 0 broad.mit.edu 37 22 18976301 18976324 + RNA DEL TATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTATT - rs139950802 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT ENST00000438934.1 + 0 394 DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA TGGCTGGACAtatttatttatttatttatttatttatttattta 0.411 5 10 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 567 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 9 369 --- --- --- ---