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 MYO9A 4649 broad.mit.edu 37 15 72193592 72193592 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:72193592G>T ENST00000356056.5 - 23 3562 c.3090C>A c.(3088-3090)ttC>ttA p.F1030L MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1030 IQ 1.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity p.F1030L(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCAAGACCCTGAACCATCGCT 0.453000 42 75 4.01765e-15 4.7746e-15 0.847076 1 0 SUMF1 285362 broad.mit.edu 37 3 4458835 4458835 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:4458835C>T ENST00000272902.5 - 6 852 c.817G>A c.(817-819)Gat>Aat p.D273N SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N|SUMF1_ENST00000458465.2_Intron NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 273 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) TGGAAGCCATCCTCACCAGTG 0.552000 7 403 0 0 0.248553 0 0 MSL2 55167 broad.mit.edu 37 3 135870947 135870947 + Missense_Mutation SNP T T A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:135870947T>A ENST00000309993.2 - 2 1508 c.776A>T c.(775-777)gAt>gTt p.D259V MSL2_ENST00000434835.2_Missense_Mutation_p.D185V NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 259 histone H4-K16 acetylation MSL complex zinc ion binding p.D259V(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 AGGTTTTATATCTTCACTGAA 0.448000 57 156 0 0 0.870114 0 0 DPP8 54878 broad.mit.edu 37 15 65780073 65780073 + Missense_Mutation SNP T T C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:65780073T>C ENST00000341861.5 - 7 2538 c.958A>G c.(958-960)Atg>Gtg p.M320V DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 320 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity p.M304V(1) NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTTTCCAACATAGGGGATGTA 0.338000 20 247 0 0 0.575678 0 0 CHD1 1105 broad.mit.edu 37 5 98192174 98192174 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr5:98192174C>T ENST00000284049.3 - 35 5192 c.5043G>A c.(5041-5043)caG>caA p.Q1681Q NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1681 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding p.Q1681Q(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AAGGAGATCTCTGATCTAGTG 0.443000 53 21 0 0 0.870114 0 0 CTGF 1490 broad.mit.edu 37 6 132271204 132271204 + Missense_Mutation SNP C C A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr6:132271204C>A ENST00000367976.3 - 4 838 c.638G>T c.(637-639)tGt>tTt p.C213F NM_001901.2 NP_001892.1 P29279 CTGF_HUMAN connective tissue growth factor 213 TSP type-1. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding p.C213F(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) GCCCATCCCACAGGTCTTGGA 0.587000 OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 77 0.00909568 0.00956213 0.150653 1 0 ZKSCAN1 7586 broad.mit.edu 37 7 99631796 99631796 + Silent SNP C C T rs147984747 byFrequency TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:99631796C>T ENST00000324306.6 + 6 1902 c.1668C>T c.(1666-1668)ggC>ggT p.G556G ZKSCAN1_ENST00000426572.1_Silent_p.G520G|ZKSCAN1_ENST00000535170.1_Silent_p.G343G NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 556 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) ATGCATTTGGCGCGTTCCTGA 0.498000 5 349 0 0 0.217242 0 0 COL11A1 1301 broad.mit.edu 37 1 103544235 103544235 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:103544235G>A ENST00000358392.2 - 3 784 c.467C>T c.(466-468)aCt>aTt p.T156I COL11A1_ENST00000370096.3_Missense_Mutation_p.T156I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 156 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.T156I(2)|p.T156S(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GATGTTAACAGTTCTGAAGAG 0.368000 68 88 0 0 0.870114 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428780 128428780 + Silent SNP A A C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr8:128428780A>C ENST00000465342.2 + 2 1826 c.669A>C c.(667-669)gcA>gcC p.A223A CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000501396.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A223A(2) lung(1)|prostate(1)|urinary_tract(1) 3 TATGCAAAGCAGAAACCCTCA 0.507000 17 18 0 0 0.500413 0 0 HSPG2 3339 broad.mit.edu 37 1 22178148 22178148 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:22178148G>A ENST00000374695.3 - 55 7128 c.7049C>T c.(7048-7050)tCg>tTg p.S2350L HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2350 Ig-like C2-type 9. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.S2350L(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGCCACTTGCGAGGAGGAGGG 0.652000 4 111 0 0 0.248553 0 0 SLC9A5 6553 broad.mit.edu 37 16 67305047 67305047 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr16:67305047C>T ENST00000299798.11 + 16 2690 c.2625C>T c.(2623-2625)acC>acT p.T875T NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 875 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.T875T(1) 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) AGGACCACACCCATCTCAGCC 0.662000 4 31 0 0 0.150653 0 0 LGR6 59352 broad.mit.edu 37 1 202245638 202245638 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:202245638C>T ENST00000367278.3 + 5 722 c.633C>T c.(631-633)agC>agT p.S211S LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 211 integral to membrane|plasma membrane protein-hormone receptor activity p.S211S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 ATCTCACCAGCCTTGTGGTGC 0.617000 12 19 0 0 0.500413 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746838 77746838 + Missense_Mutation SNP C C T rs141419994 by1000genomes TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr2:77746838C>T ENST00000409088.3 - 3 571 c.157G>A c.(157-159)Gca>Aca p.A53T LRRTM4_ENST00000409884.1_Missense_Mutation_p.A53T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A53T NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 53 LRRNT. integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GGGATATCTGCGAAAGCATGA 0.463000 4 177 0 0 0.184627 0 0 POPDC2 64091 broad.mit.edu 37 3 119379078 119379078 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:119379078C>G ENST00000493094.1 - 1 652 c.193G>C c.(193-195)Gtg>Ctg p.V65L POPDC2_ENST00000468801.1_Missense_Mutation_p.V65L|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Missense_Mutation_p.V65L|POPDC2_ENST00000264231.3_Missense_Mutation_p.V65L Q9HBU9 POPD2_HUMAN popeye domain containing 2 65 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) CCCCACAGCACGCAGCACAGG 0.577000 3 127 0 0 0.115264 0 0 NTRK1 4914 broad.mit.edu 37 1 156830913 156830913 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:156830913C>T ENST00000368196.3 + 1 307 c.187C>T c.(187-189)Ccc>Tcc p.P63S NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_Missense_Mutation_p.P63S|NTRK1_ENST00000524377.1_Missense_Mutation_p.P63S NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 63 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.P63S(2) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCACCACCTGCCCGGCGCAGA 0.736000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 5 7 0 0 0.217242 0 0 CDK13 8621 broad.mit.edu 37 7 40039015 40039015 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:40039015C>G ENST00000181839.4 + 4 2703 c.2098C>G c.(2098-2100)Cgc>Ggc p.R700G CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.R700G NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 700 R -> L (in dbSNP:rs1057000). alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.R700G(1)|p.L700V(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 CTGGGGAAAACGCTGCGTGGA 0.358000 68 174 0 0 0.870114 0 0 POLN 353497 broad.mit.edu 37 4 2097644 2097644 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr4:2097644C>G ENST00000511885.2 - 20 2352 c.1999G>C c.(1999-2001)Gaa>Caa p.E667Q POLN_ENST00000382865.1_Missense_Mutation_p.E667Q Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 667 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GTCACCTGTTCCACGGGCACA 0.602000 DNA polymerases (catalytic subunits) 3 119 0 0 0.115264 0 0 DDX19B 11269 broad.mit.edu 37 16 70359583 70359583 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr16:70359583G>A ENST00000288071.6 + 7 844 c.599G>A c.(598-600)gGc>gAc p.G200D DDX19B_ENST00000563392.1_Missense_Mutation_p.G91D|DDX19B_ENST00000563206.1_Missense_Mutation_p.G205D|DDX19B_ENST00000393657.2_Missense_Mutation_p.G91D|DDX19B_ENST00000355992.3_Missense_Mutation_p.G169D|DDX19B_ENST00000568625.1_Missense_Mutation_p.G91D|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.G200D|DDX19B_ENST00000451014.3_Missense_Mutation_p.G174D NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 200 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GCTGTTCGAGGCAATAAATGT 0.363000 4 182 0 0 0.150653 0 0 FCGBP 8857 broad.mit.edu 37 19 40420067 40420067 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr19:40420067C>T ENST00000221347.6 - 6 2934 c.2927G>A c.(2926-2928)gGc>gAc p.G976D NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 976 VWFD 2. extracellular region protein binding p.G976D(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GACAGTCAGGCCAAAGTCCGT 0.592000 37 60 0 0 0.819951 0 0 MFSD8 256471 broad.mit.edu 37 4 128843022 128843022 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr4:128843022C>G ENST00000296468.3 - 11 1222 c.1095G>C c.(1093-1095)caG>caC p.Q365H MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H|MFSD8_ENST00000515130.1_Intron NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 365 cell death|transmembrane transport integral to membrane|lysosomal membrane p.Q365H(1) cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TACCTTCCCACTGTATTTTGG 0.373000 30 60 0 0 0.740014 0 0 ZFP28 140612 broad.mit.edu 37 19 57065114 57065114 + Silent SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr19:57065114G>A ENST00000301318.3 + 8 1031 c.960G>A c.(958-960)ggG>ggA p.G320G AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G320G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) ATGCTGAAGGGGTAACAGACA 0.403000 6 152 0 0 0.217242 0 0 HJURP 55355 broad.mit.edu 37 2 234756069 234756069 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr2:234756069C>G ENST00000411486.2 - 5 441 c.376G>C c.(376-378)Gaa>Caa p.E126Q HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 126 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding p.E126Q(1) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACTGACTCTTCCTGGTCTGAC 0.488000 7 128 0 0 0.307466 0 0 CYP4F3 4051 broad.mit.edu 37 19 15756624 15756624 + Silent SNP C C A rs116936513 by1000genomes TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr19:15756624C>A ENST00000221307.7 + 3 342 c.294C>A c.(292-294)atC>atA p.I98I CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.1_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 98 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.I98I(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GGCACGCAATCGTCCGCATCT 0.582000 48 75 3.05275e-18 3.68125e-18 0.864702 1 0 ELMO3 79767 broad.mit.edu 37 16 67234423 67234423 + Nonsense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr16:67234423G>A ENST00000393997.2 + 6 699 c.642G>A c.(640-642)tgG>tgA p.W214* ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48* NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 161 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding p.W214*(1) cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TGGTGTCCTGGGAGACTCTGA 0.652000 3 68 0 0 0.115264 0 0 ADCY6 112 broad.mit.edu 37 12 49176734 49176734 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr12:49176734G>A ENST00000307885.4 - 1 1178 c.484C>T c.(484-486)Ctc>Ttc p.L162F ADCY6_ENST00000550422.1_Missense_Mutation_p.L162F|ADCY6_ENST00000357869.3_Missense_Mutation_p.L162F NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 162 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding p.L162F(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 ACCGCTGTGAGCAGCACCAGC 0.652000 18 24 0 0 0.539581 0 0 CPVL 54504 broad.mit.edu 37 7 29070308 29070308 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:29070308C>T ENST00000409850.1 - 16 1851 c.1205G>A c.(1204-1206)gGc>gAc p.G402D CPVL_ENST00000265394.5_Missense_Mutation_p.G402D|CPVL_ENST00000396276.3_Missense_Mutation_p.G402D Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 402 proteolysis protein binding|serine-type carboxypeptidase activity p.G402D(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 CCAGTCCATGCCCATCAAGGA 0.473000 7 647 0 0 0.248553 0 0 DMBT1 1755 broad.mit.edu 37 10 124376760 124376760 + Silent SNP T T G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr10:124376760T>G ENST00000338354.3 + 37 4594 c.4488T>G c.(4486-4488)tcT>tcG p.S1496S DMBT1_ENST00000330163.4_Silent_p.S868S|DMBT1_ENST00000368956.2_Silent_p.S868S|DMBT1_ENST00000368955.3_Silent_p.S1486S|DMBT1_ENST00000368909.3_Silent_p.S1496S|DMBT1_ENST00000344338.3_Silent_p.S1486S|DMBT1_ENST00000359586.6_Silent_p.S347S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1496 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGCCAACCTCTCGTGCATCAA 0.448000 11 734 0 0 0.479597 0 0 ZBTB37 84614 broad.mit.edu 37 1 173839439 173839439 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:173839439C>T ENST00000367704.1 + 3 475 c.76C>T c.(76-78)Cgc>Tgc p.R26C ZBTB37_ENST00000432989.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367702.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367701.4_Missense_Mutation_p.R26C Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 AAACCAGTTGCGCATGCAGGG 0.527000 4 108 0 0 0.150653 0 0 SDHAP1 0 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:195711466G>T ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 3 70 0.00909568 0.00956213 0.150653 1 0 FAM174B 400451 broad.mit.edu 37 15 93162648 93162648 + Missense_Mutation SNP A A G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:93162648A>G ENST00000555748.1 - 3 447 c.94T>C c.(94-96)Tgg>Cgg p.W32R FAM174B_ENST00000327355.5_3'UTR|FAM174B_ENST00000555696.1_Missense_Mutation_p.W32R|FAM174B_ENST00000553393.1_Intron|FAM174B_ENST00000555064.1_Missense_Mutation_p.W32R|RP11-386M24.9_ENST00000607766.1_RNA Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 0 integral to membrane endometrium(2)|lung(1) 3 GCAGCTGACCAACTTTCCACA 0.527000 19 28 0 0 0.575678 0 0 SRSF1 6426 broad.mit.edu 37 17 56083187 56083187 + Missense_Mutation SNP T T C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr17:56083187T>C ENST00000582730.2 - 3 650 c.527A>G c.(526-528)gAt>gGt p.D176G SRSF1_ENST00000258962.4_Missense_Mutation_p.D176G|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G NM_001078166.1 NP_001071634.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 176 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding p.D176G(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTAGTGTTATCCAGTTTTCG 0.403000 85 117 0 0 0.870114 0 0 SPG11 80208 broad.mit.edu 37 15 44944401 44944401 + Missense_Mutation SNP C C A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:44944401C>A ENST00000261866.7 - 5 949 c.933G>T c.(931-933)aaG>aaT p.K311N SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 311 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) CATCTACGCCCTTAGGTCCTT 0.373000 4 181 0.00909568 0.00956213 0.150653 1 0 ASAP2 8853 broad.mit.edu 37 2 9484930 9484930 + Splice_Site SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr2:9484930G>A ENST00000281419.3 + 11 1363 c.e11+1 ASAP2_ENST00000315273.4_Splice_Site NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 CCATGGTACCGTAAGTATTCT 0.423000 4 117 0 0 0.150653 0 0 SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr17:47696432A>C ENST00000393331.3 - 7 861 c.391T>G c.(391-393)Tgg>Ggg p.W131G SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458000 Prostate(2;0.17) 139 222 0 0 0.870114 0 0 STAMBP 10617 broad.mit.edu 37 2 74072296 74072296 + Silent SNP A A G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr2:74072296A>G ENST00000394070.2 + 4 785 c.282A>G c.(280-282)aaA>aaG p.K94K STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_Silent_p.K94K NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 94 Interaction with CHMP3. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding p.K94K(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 TGTCTCAGAAATTAAAGGAGA 0.343000 41 53 0 0 0.840704 0 0 MAST2 23139 broad.mit.edu 37 1 46497980 46497980 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:46497980C>T ENST00000361297.2 + 25 3601 c.3318C>T c.(3316-3318)atC>atT p.I1106I MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1106 PDZ. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTCCCATCATCATCCACCGAG 0.572000 4 117 0 0 0.307466 0 0 LRIG3 121227 broad.mit.edu 37 12 59283855 59283855 + Silent SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr12:59283855G>A ENST00000320743.3 - 5 868 c.582C>T c.(580-582)ctC>ctT p.L194L LRIG3_ENST00000379141.4_Silent_p.L134L NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 194 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TTAACACAAGGAGTGTGTTGG 0.423000 T ROS1 NSCLC 6 412 0 0 0.307466 0 0 CREBBP 1387 broad.mit.edu 37 16 3778253 3778253 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr16:3778253C>T ENST00000262367.5 - 31 7604 c.6795G>A c.(6793-6795)gcG>gcA p.A2265A CREBBP_ENST00000382070.3_Silent_p.A2227A NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2265 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.A2265A(2) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCATCTGAGCCGCCATCTGGC 0.672000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 29 29 0 0 0.750413 0 0 SLC9A9 285195 broad.mit.edu 37 3 143100949 143100949 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:143100949C>T ENST00000316549.6 - 13 1685 c.1477G>A c.(1477-1479)Gtg>Atg p.V493M SLC9A9-AS2_ENST00000490153.1_RNA NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 493 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TCCAGGTCCACGCCAACTCTG 0.438000 6 573 0 0 0.248553 0 0 CRNKL1 51340 broad.mit.edu 37 20 20028414 20028414 + Missense_Mutation SNP T T C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr20:20028414T>C ENST00000377340.2 - 6 1131 c.1100A>G c.(1099-1101)gAg>gGg p.E367G CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 367 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GATATATCGCTCATAAATGGT 0.517000 3 103 0 0 0.150653 0 0 OTOGL 283310 broad.mit.edu 37 12 80658832 80658832 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr12:80658832G>T ENST00000458043.2 + 19 2045 c.2039G>T c.(2038-2040)tGc>tTc p.C680F OTOGL_ENST00000547103.1_Missense_Mutation_p.C680F NM_173591.3 NP_775862.3 otogelin-like p.C680F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTGCTCCTTGCCACATCTAT 0.493000 172 270 1.05207e-69 1.30711e-69 0.870114 1 0 KIF14 9928 broad.mit.edu 37 1 200587742 200587742 + Missense_Mutation SNP T T G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:200587742T>G ENST00000367350.4 - 2 548 c.110A>C c.(109-111)aAg>aCg p.K37T NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 37 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding p.K37T(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CAAATGCAGCTTAAGTCGGCT 0.368000 48 161 0 0 0.870114 0 0 ENTPD4 9583 broad.mit.edu 37 8 23290499 23290499 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr8:23290499C>T ENST00000358689.4 - 13 2026 c.1791G>A c.(1789-1791)tcG>tcA p.S597S ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.S589S NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 597 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity p.S597S(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GGGCGGCGGCCGAGCTGCTCC 0.647000 4 4 0 0 0.150653 0 0 PCDHB7 0 broad.mit.edu 37 5 140553130 140553130 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr5:140553130C>T ENST00000231137.3 + 1 888 c.714C>T c.(712-714)aaC>aaT p.N238N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 238 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N238N(3) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAAATGACAACGCCCCTGATT 0.542000 8 131 0 0 0.307466 0 0 TRPA1 8989 broad.mit.edu 37 8 72963064 72963064 + Silent SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr8:72963064G>A ENST00000262209.4 - 15 2061 c.1854C>T c.(1852-1854)ggC>ggT p.G618G RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 618 integral to plasma membrane p.G618G(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GACATTTATTGCCTGGAGAAT 0.338000 56 108 0 0 0.870114 0 0 UBE4B 10277 broad.mit.edu 37 1 10207138 10207138 + Missense_Mutation SNP G G A rs147329205 TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:10207138G>A ENST00000377157.3 + 18 2907 c.1846G>A c.(1846-1848)Gca>Aca p.A616T UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T|UBE4B_ENST00000253251.8_Missense_Mutation_p.A732T NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 861 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding p.A732T(1)|p.A861T(1) NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CCTGGACCCCGCATATCCCGA 0.493000 6 343 0 0 0.248553 0 0 HIPK3 10114 broad.mit.edu 37 11 33373268 33373268 + Silent SNP T T C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr11:33373268T>C ENST00000303296.4 + 15 3227 c.2922T>C c.(2920-2922)caT>caC p.H974H HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000456517.1_Silent_p.H953H|HIPK3_ENST00000379016.3_Silent_p.H953H NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 974 Required for localization to nuclear speckles (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity p.H974H(1) endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 AGGACACTCATGAAAACACAG 0.483000 40 139 0 0 0.834066 0 0 SP1 0 broad.mit.edu 37 12 53804756 53804756 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr12:53804756G>A ENST00000426431.2 + 6 2129 c.2069G>A c.(2068-2070)aGg>aAg p.R690K SP1_ENST00000327443.4_Missense_Mutation_p.R697K NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 697 VZV IE62-binding. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.R697K(1) breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CGCTTCATGAGGAGTGACCAC 0.493000 143 195 0 0 0.870114 0 0 MAP4 4134 broad.mit.edu 37 3 47963256 47963256 + Splice_Site SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:47963256G>A ENST00000426837.2 - 6 666 c.580_splice c.e6+1 p.Y193_splice MAP4_ENST00000360240.6_Splice_Site_p.Y176_splice|MAP4_ENST00000383737.4_Splice_Site_p.Y176_splice|MAP4_ENST00000395734.3_Splice_Site_p.Y176_splice P27816 MAP4_HUMAN microtubule-associated protein 4 176 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) AAGCCATACCGTAACTGTCTT 0.393000 4 165 0 0 0.150653 0 0 ZNF713 349075 broad.mit.edu 37 7 56007656 56007656 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:56007656G>T ENST00000429591.2 + 4 1288 c.1250G>T c.(1249-1251)tGt>tTt p.C417F MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C417F(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAATATAAATGTGAGCAAACT 0.388000 105 86 1.09637e-55 1.34182e-55 0.870114 1 0 FES 2242 broad.mit.edu 37 15 91428783 91428783 + Missense_Mutation SNP C C A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:91428783C>A ENST00000328850.3 + 3 497 c.355C>A c.(355-357)Cag>Aag p.Q119K FES_ENST00000394300.3_Intron|FES_ENST00000414248.2_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 119 Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.Q119K(2) lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTACAGCGAGCAGTGGCAGCA 0.597000 12 17 1.05317e-09 1.21634e-09 0.457914 1 0 TPPP2 122664 broad.mit.edu 37 14 21498804 21498804 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr14:21498804G>A ENST00000321760.6 + 2 212 c.64G>A c.(64-66)Ggc>Agc p.G22S TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S|TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|NDRG2_ENST00000403829.3_Intron NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 22 cytoplasm p.G22S(1) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ATCAAGCAGTGGCACTGAAAT 0.517000 28 36 0 0 0.693898 0 0 CHD1 1105 broad.mit.edu 37 5 98192340 98192340 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr5:98192340C>G ENST00000284049.3 - 35 5026 c.4877G>C c.(4876-4878)aGa>aCa p.R1626T NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1626 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding p.R1626T(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AGAATGAGATCTATCTTTTAA 0.383000 71 18 0 0 0.870114 0 0 ERCC2 2068 broad.mit.edu 37 19 45858059 45858059 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr19:45858059G>A ENST00000391945.4 - 17 1671 c.1594C>T c.(1594-1596)Cct>Tct p.P532S ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 532 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.P532S(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ATGCCATCAGGGACCACAGCG 0.627000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 67 145 0 0 0.870114 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54903701 54903701 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr12:54903701C>T ENST00000293373.6 + 7 746 c.667C>T c.(667-669)Cgc>Tgc p.R223C NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173C NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 223 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity p.R223C(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TGAGCAGTGGCGCAGTGCCCA 0.517000 10 266 0 0 0.335167 0 0 ABCB5 340273 broad.mit.edu 37 7 20778650 20778650 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:20778650C>T ENST00000404938.2 + 24 3564 c.2912C>T c.(2911-2913)aCg>aTg p.T971M ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 526 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.T526M(1)|p.T971M(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 ATCGGAGAAACGCTCGTTTTG 0.418000 27 111 0 0 0.740014 0 0 KCND2 3751 broad.mit.edu 37 7 120385960 120385960 + Nonsense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:120385960C>T ENST00000331113.4 + 5 2559 c.1594C>T c.(1594-1596)Cga>Tga p.R532* NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 532 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CTGCTGTTCACGACGACACAA 0.443000 4 141 0 0 0.184627 0 0 ALK 238 broad.mit.edu 37 2 29450529 29450529 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr2:29450529G>A ENST00000389048.3 - 17 3731 c.2825C>T c.(2824-2826)gCa>gTa p.A942V ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 942 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GTTTGAGGCTGCATTGCCGCC 0.527000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 4 179 0 0 0.184627 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6377648 6377648 + Missense_Mutation SNP G G C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr4:6377648G>C ENST00000335585.5 - 4 368 c.345C>G c.(343-345)atC>atG p.I115M PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.I115M|PPP2R2C_ENST00000314348.8_5'UTR NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 115 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity p.I115M(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TCCATAATTTGATAGTTTTAT 0.413000 10 234 0 0 0.335167 0 0 SNX33 257364 broad.mit.edu 37 15 75941857 75941857 + Missense_Mutation SNP C C A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:75941857C>A ENST00000308527.5 + 1 1611 c.414C>A c.(412-414)aaC>aaA p.N138K NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 138 cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 TGGGCACCAACGGGCACCCTC 0.642000 4 121 0.150653 0.156374 0.150653 1 0 CACNG2 10369 broad.mit.edu 37 22 36960764 36960764 + Silent SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr22:36960764G>A ENST00000300105.6 - 4 1587 c.606C>T c.(604-606)atC>atT p.I202I NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 202 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.I202I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TGTGCCGGTCGATAAACATGT 0.622000 142 194 0 0 0.870114 0 0 CCNG1 900 broad.mit.edu 37 5 162868107 162868107 + Nonsense_Mutation SNP T T A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr5:162868107T>A ENST00000340828.2 + 3 512 c.288T>A c.(286-288)tgT>tgA p.C96* CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*|CCNG1_ENST00000510664.1_Intron|AC112205.1_ENST00000599797.1_Intron NM_004060.3 NP_004051.1 P51959 CCNG1_HUMAN cyclin G1 96 cell division|mitosis|regulation of cyclin-dependent protein kinase activity nucleus p.C96*(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164) ACCTTGGGTGTGTTGGACTGA 0.368000 60 82 0 0 0.870114 0 0 DHRS13 147015 broad.mit.edu 37 17 27229944 27229944 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr17:27229944C>T ENST00000378895.4 - 1 145 c.19G>A c.(19-21)Ggc>Agc p.G7S DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR NM_144683.3 NP_653284.2 Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 7 extracellular region binding|oxidoreductase activity p.G7S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 9 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AACCCCGCGCCCAGCAGCAGC 0.756000 5 12 0 0 0.217242 0 0 CDCP2 200008 broad.mit.edu 37 1 54605390 54605390 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:54605390C>T ENST00000371330.1 - 4 2000 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K CDCP2_ENST00000530059.1_Intron NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 385 extracellular region p.E385K(1) kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GCCTCCCCTTCGCCCTCAGTG 0.612000 40 38 0 0 0.827153 0 0 OR10H3 26532 broad.mit.edu 37 19 15852413 15852413 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr19:15852413G>A ENST00000305892.1 + 1 211 c.211G>A c.(211-213)Gag>Aag p.E71K NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E71K(1) cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTCCATCTCTGAGATTCTGTT 0.498000 21 764 0 0 0.575678 0 0 SARDH 1757 broad.mit.edu 37 9 136573417 136573417 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr9:136573417G>T ENST00000371872.4 - 11 1719 c.1462C>A c.(1462-1464)Ctg>Atg p.L488M SARDH_ENST00000439388.1_Missense_Mutation_p.L488M|SARDH_ENST00000422262.2_Missense_Mutation_p.L320M NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 488 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity p.L488M(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) ACCTCGTGCAGCGGGTCTCTC 0.632000 12 76 3.07112e-06 3.49766e-06 0.387290 1 0 PRTG 283659 broad.mit.edu 37 15 55964737 55964737 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:55964737C>T ENST00000389286.4 - 11 1994 c.1947G>A c.(1945-1947)caG>caA p.Q649Q NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 649 Fibronectin type-III 3. multicellular organismal development integral to membrane p.Q649Q(1) breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GCTTGTAGCCCTGAATAGCAG 0.498000 45 79 0 0 0.859065 0 0 GPATCH4 54865 broad.mit.edu 37 1 156565503 156565504 + Frame_Shift_Ins INS - - T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:156565503_156565504insT ENST00000368232.4 - 8 746_747 c.614_615insA c.(613-615)aaafs p.K205fs GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs|GPATCH4_ENST00000497287.1_5'UTR NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 205 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTTCTTTTTCTTTTTTTTGGG 0.535 7 320 --- --- --- --- MAPKAPK3 7867 broad.mit.edu 37 3 50655021 50655042 + Frame_Shift_Del DEL CAGGGGGGCCCTGTGCCCCCGC CAGGGGGGCCCTGTGCCCCCGC - rs149349769 byFrequency TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC ENST00000446044.1 + 4 621_642 c.25_46delCAGGGGGGCCCTGTGCCCCCGC c.(25-48)cafs p.QGGPVPPP9fs MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 9 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGCAGAGGAGCAGGGGGGCCCTGTGCCCCCGCCAGTTGCACC 0.698 9 68 --- --- --- --- TMEM165 55858 broad.mit.edu 37 4 56262481 56262481 + Frame_Shift_Del DEL G G - TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr4:56262481delG ENST00000381334.5 + 1 358 c.125delG c.(124-126)cgfs p.R42fs TMEM165_ENST00000542052.1_5'UTR|TMEM165_ENST00000506198.1_Frame_Shift_Del_p.R42fs NM_018475.3 NP_060945.2 Q9HC07 TM165_HUMAN transmembrane protein 165 42 integral to membrane endometrium(1)|kidney(1)|large_intestine(2) 4 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) CTTAGCCACCGGAACAAAGAA 0.741 3 5 --- --- --- --- ICA1 3382 broad.mit.edu 37 7 8196560 8196578 + Frame_Shift_Del DEL AAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA - rs147272214 TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:8196560_8196578delAAAAAAAAAAAAAAAAAAA ENST00000407906.1 - 8 1223_1241 c.972_990delTTTTTTTTTTTTTTTTTTT c.(970-990)ttfs p.FFFFFFF324fs ICA1_ENST00000402384.3_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000265577.7_Intron|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000396675.3_Intron|ICA1_ENST00000406470.2_Intron Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 0 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CTGATGCAGTaaaaaaaaaaaaaaaaaaaaaaaaagaaa 0.370 6 12 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888170 65888170 + RNA DEL A A - rs147935079 TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:65888170delA ENST00000442578.1 - 0 826 TATTCAGAGCAAAAAAAAAAA 0.343 2 4 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 5 6 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78790207 78790208 + Frame_Shift_Ins INS - - GAATA rs55947300 TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr9:78790207_78790208insGAATA ENST00000376767.3 + 14 2574_2575 c.2062_2063insGAATA c.(2062-2064)aatfs p.N688fs 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 cgaatcgaatcgaatagaatag 0.342 6 4 --- --- --- --- MIR381HG 0 broad.mit.edu 37 14 101514904 101514905 + RNA DEL GT GT - TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr14:101514904_101514905delGT ENST00000553692.1 + 0 28 CACCTCTGGGgtgtgtgtgtgt 0.470 3 4 --- --- --- ---