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 IL2RB 3560 broad.mit.edu 37 22 37524438 37524438 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr22:37524438C>T ENST00000216223.5 - 10 1552 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 452 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ATCCTCTCTTCACCGGCCCCA 0.667000 9 10 0 0 0.000442599 0 0 KIAA0895 23366 broad.mit.edu 37 7 36373544 36373544 + Silent SNP G G T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:36373544G>T ENST00000317020.6 - 4 1374 c.1074C>A c.(1072-1074)ggC>ggA p.G358G KIAA0895_ENST00000338533.5_Silent_p.G396G|KIAA0895_ENST00000297063.6_Silent_p.G409G|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000440378.1_Silent_p.G406G|KIAA0895_ENST00000453212.1_Silent_p.G164G|KIAA0895_ENST00000436884.1_Silent_p.G306G NM_015314.2 NP_056129.2 Q8NCT3 K0895_HUMAN KIAA0895 409 breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TGACAAACCTGCCAATATCTT 0.448000 6 122 2.0095e-06 2.91377e-05 8.12818e-05 1 0 HLA-DMA 3108 broad.mit.edu 37 6 32918314 32918314 + Missense_Mutation SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr6:32918314T>C ENST00000374843.4 - 2 440 c.355A>G c.(355-357)Aaa>Gaa p.K119E XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000464392.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119E NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 119 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 ACCGGGATTTTCCCATCAAGT 0.488000 9 209 0 0 0.000442599 0 0 NOD1 10392 broad.mit.edu 37 7 30491515 30491515 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:30491515G>A ENST00000222823.4 - 6 2043 c.1518C>T c.(1516-1518)ccC>ccT p.P506P NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 506 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 GGTCACCCCCGGGGCCCAGCT 0.627000 7 56 0 0 0.000274275 0 0 DMBT1 1755 broad.mit.edu 37 10 124339284 124339284 + Silent SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:124339284C>T ENST00000338354.3 + 10 976 c.870C>T c.(868-870)ggC>ggT p.G290G DMBT1_ENST00000368909.3_Silent_p.G290G|DMBT1_ENST00000368956.2_Silent_p.G290G|DMBT1_ENST00000330163.4_Silent_p.G290G|DMBT1_ENST00000344338.3_Silent_p.G290G|DMBT1_ENST00000368955.3_Silent_p.G290G|DMBT1_ENST00000359586.6_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 290 SRCR 2. 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) CCCAGTTTGGCCAGGGCTCAG 0.597000 7 149 0 0 0.000274275 0 0 POLR3A 11128 broad.mit.edu 37 10 79779004 79779004 + Missense_Mutation SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:79779004T>C ENST00000372371.3 - 9 1342 c.1205A>G c.(1204-1206)aAt>aGt p.N402S POLR3A_ENST00000484760.1_5'UTR NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 402 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCTCAAGAAATTGATGTTTGC 0.383000 9 50 0 0 0.000274275 0 0 CPPED1 55313 broad.mit.edu 37 16 12875100 12875100 + Missense_Mutation SNP C C G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:12875100C>G ENST00000381774.4 - 2 471 c.231G>C c.(229-231)aaG>aaC p.K77N CPPED1_ENST00000261660.4_Missense_Mutation_p.K77N|CPPED1_ENST00000433677.2_Missense_Mutation_p.K77N NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 77 K -> E (in Ref. 2; BAA92034). hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 TGGGGTTCAGCTTGTTGATGG 0.562000 3 41 0 0 6.4e-05 0 0 MIR371B 100616185 broad.mit.edu 37 19 54290965 54290965 + RNA SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr19:54290965G>A ENST00000595160.1 - 0 331 MIR371A_ENST00000362161.1_RNA NR_029864.1|NR_029865.1|NR_039909.1 TCTGCTCTCTGGTGAAAGTGC 0.557000 6 36 0 0 3.59834e-05 0 0 MOGAT3 346606 broad.mit.edu 37 7 100843556 100843556 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:100843556G>A ENST00000223114.4 - 3 413 c.247C>T c.(247-249)Cgg>Tgg p.R83W MOGAT3_ENST00000379423.3_Missense_Mutation_p.R83W|MOGAT3_ENST00000440203.2_Missense_Mutation_p.R83W NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 83 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CAAATTGCCCGGTTCCTTATC 0.562000 29 200 0 0 0.000409698 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545643 234545643 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:234545643A>G ENST00000344644.5 + 1 544 c.475A>G c.(475-477)Aaa>Gaa p.K159E UGT1A10_ENST00000373445.1_Missense_Mutation_p.K159E|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) AATTGTTGCTAAATATTTCTC 0.423000 26 132 0 0 0.000227799 0 0 DMBT1 1755 broad.mit.edu 37 10 124377716 124377716 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:124377716A>G ENST00000338354.3 + 38 4794 c.4688A>G c.(4687-4689)cAg>cGg p.Q1563R DMBT1_ENST00000368909.3_Missense_Mutation_p.Q1563R|DMBT1_ENST00000368956.2_Missense_Mutation_p.Q935R|DMBT1_ENST00000330163.4_Missense_Mutation_p.Q935R|DMBT1_ENST00000344338.3_Missense_Mutation_p.Q1553R|DMBT1_ENST00000368955.3_Missense_Mutation_p.Q1553R|DMBT1_ENST00000359586.6_Missense_Mutation_p.Q414R Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1563 SRCR 12. 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) GGAAATGCCCAGTTTGGCCAG 0.612000 5 229 0 0 0.000157383 0 0 PCBP3 54039 broad.mit.edu 37 21 47360050 47360050 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr21:47360050G>A ENST00000400314.1 + 15 1354 c.1016G>A c.(1015-1017)cGt>cAt p.R339H PCBP3_ENST00000400310.1_Missense_Mutation_p.R319H|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.R339H|PCBP3_ENST00000400304.1_Missense_Mutation_p.R329H|PCBP3_ENST00000400308.1_Missense_Mutation_p.R313H|PCBP3_ENST00000400309.1_Missense_Mutation_p.R338H P57721 PCBP3_HUMAN poly(rC) binding protein 3 339 KH 3. 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) TCCTCAGAGCGTCAGATCACC 0.557000 11 46 0 0 6.40141e-05 0 0 FAT2 2196 broad.mit.edu 37 5 150931118 150931118 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr5:150931118G>A ENST00000261800.5 - 6 4218 c.4206C>T c.(4204-4206)atC>atT p.I1402I NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1402 Cadherin 12. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCAATGACGATGCTGCCTG 0.522000 7 63 0 0 0.000274275 0 0 SDF4 51150 broad.mit.edu 37 1 1158663 1158663 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:1158663C>T ENST00000263741.7 - 4 830 c.538G>A c.(538-540)Gcc>Acc p.A180T SDF4_ENST00000545427.1_Missense_Mutation_p.A180T|SDF4_ENST00000360001.6_Missense_Mutation_p.A180T NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 180 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AGCCTGATGGCGTCGGCAACC 0.562000 20 111 0 0 0.000375601 0 0 GPR35 2859 broad.mit.edu 37 2 241569479 241569479 + Missense_Mutation SNP T T G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:241569479T>G ENST00000319838.5 + 6 1052 c.110T>G c.(109-111)cTc>cGc p.L37R GPR35_ENST00000438013.2_Missense_Mutation_p.L68R|GPR35_ENST00000430267.1_Missense_Mutation_p.L37R|GPR35_ENST00000407714.1_Missense_Mutation_p.L37R|GPR35_ENST00000403859.1_Missense_Mutation_p.L37R NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 37 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GGCCTGCTGCTCAACAGCCTG 0.642000 5 50 0 0 0.000602214 0 0 OR52E6 390078 broad.mit.edu 37 11 5862669 5862669 + Silent SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr11:5862669C>T ENST00000329322.5 - 1 458 c.459G>A c.(457-459)agG>agA p.R153R TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.R157R NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTACAAGCTCCTCAGGACAG 0.483000 7 204 0 0 8.12818e-05 0 0 RAB40C 57799 broad.mit.edu 37 16 675984 675984 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:675984C>T ENST00000535977.1 + 6 650 c.428C>T c.(427-429)gCg>gTg p.A143V RAB40C_ENST00000248139.3_Missense_Mutation_p.A143V|RAB40C_ENST00000539661.1_Missense_Mutation_p.A143V|RAB40C_ENST00000538492.1_Missense_Mutation_p.A143V NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 143 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CAGGCCCGCGCGTACGCAGAG 0.617000 11 31 0 0 6.40141e-05 0 0 HVCN1 84329 broad.mit.edu 37 12 111099246 111099246 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr12:111099246G>A ENST00000356742.5 - 3 782 c.29C>T c.(28-30)aCc>aTc p.T10I HVCN1_ENST00000439744.2_5'UTR|HVCN1_ENST00000242607.8_Missense_Mutation_p.T10I|HVCN1_ENST00000548312.1_Missense_Mutation_p.T10I Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 10 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 GGCCCTGCGGGTGACTGCCTA 0.602000 5 25 0 0 0.000602214 0 0 TRMT5 57570 broad.mit.edu 37 14 61446337 61446337 + Silent SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:61446337T>C ENST00000261249.6 - 2 663 c.279A>G c.(277-279)acA>acG p.T93T RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 93 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) GAATGTTGACTGTCTTTTTAA 0.423000 15 192 0 0 0.000566183 0 0 GNPNAT1 64841 broad.mit.edu 37 14 53250176 53250176 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:53250176G>C ENST00000216410.3 - 3 369 c.182C>G c.(181-183)aCa>aGa p.T61R GNPNAT1_ENST00000554230.1_5'UTR NM_198066.3 NP_932332.1 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 61 N-acetyltransferase. dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity liver(1)|lung(1)|prostate(1)|skin(1) 4 Breast(41;0.176) TCCAGTCTCTGTTAGCTGACC 0.318000 3 95 0 0 0.000602214 0 0 WHSC1 7468 broad.mit.edu 37 4 1961303 1961303 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr4:1961303G>C ENST00000382895.3 + 19 3522 c.3091G>C c.(3091-3093)Gag>Cag p.E1031Q WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.E379Q|WHSC1_ENST00000382891.5_Missense_Mutation_p.E1031Q|WHSC1_ENST00000382892.2_Missense_Mutation_p.E1031Q|WHSC1_ENST00000508803.1_Missense_Mutation_p.E1031Q NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1031 AWS. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CTTTGATTCGGAGTGTCTGAA 0.527000 T IGH@ MM 7 54 0 0 0.000157383 0 0 ZNF462 58499 broad.mit.edu 37 9 109773236 109773236 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr9:109773236G>C ENST00000277225.5 + 13 7735 c.7446G>C c.(7444-7446)aaG>aaC p.K2482N ZNF462_ENST00000441147.2_Missense_Mutation_p.K1388N|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.K439N|ZNF462_ENST00000457913.1_Missense_Mutation_p.K2542N Q96JM2 ZN462_HUMAN zinc finger protein 462 2482 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TTTCCCTAAAGAATGAAACAG 0.413000 6 19 0 0 8.12818e-05 0 0 CDYL2 124359 broad.mit.edu 37 16 80718848 80718848 + Nonsense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:80718848G>C ENST00000299564.8 - 2 358 c.203C>G c.(202-204)tCa>tGa p.S68* CDYL2_ENST00000562812.1_Nonsense_Mutation_p.S68*|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.S68*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Nonsense_Mutation_p.S68* NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 68 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CTGCTTCCCTGACTTGATCCT 0.547000 22 74 0 0 0.000586117 0 0 COL4A4 1286 broad.mit.edu 37 2 227872966 227872966 + Missense_Mutation SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:227872966T>C ENST00000396625.3 - 47 4784 c.4577A>G c.(4576-4578)aAc>aGc p.N1526S COL4A4_ENST00000329662.7_Missense_Mutation_p.N1523S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1526 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTGGTGGATGTTGCAGTAGGC 0.582000 3 33 0 0 6.4e-05 0 0 OGDH 4967 broad.mit.edu 37 7 44687313 44687313 + Missense_Mutation SNP G G T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:44687313G>T ENST00000222673.5 + 4 514 c.472G>T c.(472-474)Gac>Tac p.D158Y OGDH_ENST00000543843.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000443864.2_Missense_Mutation_p.D158Y|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Missense_Mutation_p.D158Y NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 158 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TGCTGATCTGGACTCCTCCGT 0.557000 18 148 1.10513e-12 1.70386e-11 0.000295444 1 0 OR14C36 127066 broad.mit.edu 37 1 248512522 248512522 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:248512522G>A ENST00000317861.1 + 1 446 c.446G>A c.(445-447)aGt>aAt p.S149N NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TCCCTACTCAGTGGTCTTGTC 0.527000 5 66 0 0 0.000602214 0 0 DMBT1 1755 broad.mit.edu 37 10 124339221 124339221 + Silent SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:124339221T>C ENST00000338354.3 + 10 913 c.807T>C c.(805-807)aaT>aaC p.N269N DMBT1_ENST00000368909.3_Silent_p.N269N|DMBT1_ENST00000368956.2_Silent_p.N269N|DMBT1_ENST00000330163.4_Silent_p.N269N|DMBT1_ENST00000344338.3_Silent_p.N269N|DMBT1_ENST00000368955.3_Silent_p.N269N|DMBT1_ENST00000359586.6_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 269 SRCR 2. 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) ATGATGCCAATGTGGTCTGCA 0.607000 20 289 0 0 0.000375601 0 0 TANK 10010 broad.mit.edu 37 2 162036222 162036222 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:162036222C>T ENST00000392749.2 + 2 288 c.49C>T c.(49-51)Cgg>Tgg p.R17W TANK_ENST00000403609.1_Missense_Mutation_p.R17W|TANK_ENST00000405852.1_Missense_Mutation_p.R17W|TANK_ENST00000402568.1_Missense_Mutation_p.R75W|TANK_ENST00000406287.1_Missense_Mutation_p.R75W|TANK_ENST00000457476.1_Missense_Mutation_p.R17W|TANK_ENST00000259075.2_Missense_Mutation_p.R17W NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 17 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 TGAAGCCTTCCGGCAGGCATG 0.403000 4 30 0 0 0.000602214 0 0 BSN 8927 broad.mit.edu 37 3 49692949 49692949 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr3:49692949C>T ENST00000296452.4 + 5 6074 c.5960C>T c.(5959-5961)aCc>aTc p.T1987I NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1987 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ATGTCTGACACCAATTTGGCT 0.627000 4 29 0 0 0.000602214 0 0 CROCCP3 114819 broad.mit.edu 37 1 16809784 16809784 + RNA SNP T T G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:16809784T>G ENST00000263511.4 - 0 2001 NR_023386.1 CCCGGCACCTTCTCAGGAGCT 0.632000 2 5 0 0 6.4e-05 0 0 DSG3 1830 broad.mit.edu 37 18 29044158 29044158 + Nonsense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr18:29044158C>T ENST00000257189.4 + 9 1167 c.1084C>T c.(1084-1086)Cga>Tga p.R362* NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 362 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTTATCTCTCGATACCGAGT 0.378000 13 45 0 0 0.000219431 0 0 LRP4 4038 broad.mit.edu 37 11 46880755 46880755 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr11:46880755G>A ENST00000378623.1 - 38 5739 c.5497C>T c.(5497-5499)Cgg>Tgg p.R1833W LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1833 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AGGCCCCCCCGTGAGCTTCGC 0.562000 22 68 0 0 0.000295444 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655855 48655855 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr17:48655855A>G ENST00000352832.5 + 9 2603 c.2231A>G c.(2230-2232)tAc>tGc p.Y744C CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y744C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y744C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y744C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y744C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Y744C|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y744C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y744C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y744C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y744C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y744C NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 744 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GACAGCAAGTACTTTGGCCGG 0.592000 6 66 0 0 3.59834e-05 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338269 13338269 + RNA SNP G G A rs114664012 by1000genomes TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr4:13338269G>A ENST00000602906.1 + 0 287 kidney(3)|lung(1) 4 GACAAGATTCGCTATGAAAGC 0.428000 16 39 0 0 0.000422831 0 0 RANBP2 5903 broad.mit.edu 37 2 109384184 109384184 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:109384184G>C ENST00000283195.6 + 20 7315 c.7189G>C c.(7189-7191)Ggg>Cgg p.G2397R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2397 RanBD1 3. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AAATATGAAAGGGACAGAAAG 0.373000 8 623 0 0 6.40141e-05 0 0 G2E3 55632 broad.mit.edu 37 14 31077238 31077238 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:31077238A>G ENST00000206595.6 + 12 1617 c.1463A>G c.(1462-1464)gAt>gGt p.D488G G2E3_ENST00000553504.1_Missense_Mutation_p.D518G|G2E3_ENST00000438909.2_Missense_Mutation_p.D442G NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 488 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 ATTTTAGATGATGTTTCAGAC 0.343000 10 106 0 0 0.000151284 0 0 LPAR4 2846 broad.mit.edu 37 X 78010493 78010493 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chrX:78010493G>A ENST00000435339.2 + 2 532 c.127G>A c.(127-129)Ggt>Agt p.G43S RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Missense_Mutation_p.G43S NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 43 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TAATCTCAATGGTGCTGTCTA 0.408000 21 261 0 0 0.000295444 0 0 SVOP 55530 broad.mit.edu 37 12 109309580 109309580 + Nonsense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr12:109309580G>C ENST00000299134.5 - 13 1222 c.1223C>G c.(1222-1224)tCa>tGa p.S408* NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 ACGGAGTGATGAGAGCACCCA 0.612000 4 14 0 0 0.000602214 0 0 TAS2R1 50834 broad.mit.edu 37 5 9630087 9630087 + Missense_Mutation SNP C C A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr5:9630087C>A ENST00000382492.2 - 1 376 c.58G>T c.(58-60)Ggg>Tgg p.G20W CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 20 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 GTGAAAATCCCAAGAAGAAAT 0.348000 20 56 8.10497e-08 1.21875e-06 0.000175454 1 0 IPO4 79711 broad.mit.edu 37 14 24652208 24652208 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:24652208C>T ENST00000354464.6 - 23 2571 c.2395G>A c.(2395-2397)Gtg>Atg p.V799M RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 799 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) GCCTTGAGCACGCCACAGAGC 0.677000 15 56 0 0 0.000219431 0 0 LOC440040 440040 broad.mit.edu 37 11 49597962 49597962 + RNA SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr11:49597962G>A ENST00000527477.1 + 0 566 TTCATGAGAGGAAGTGTGGGG 0.522000 4 23 0 0 0.000602214 0 0 TAAR5 9038 broad.mit.edu 37 6 132910007 132910007 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr6:132910007C>T ENST00000258034.2 - 1 870 c.819G>A c.(817-819)atG>atA p.M273I NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 273 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGCTGTCGACCATCGTGTCTA 0.517000 11 90 0 0 6.40141e-05 0 0 MAGI2 9863 broad.mit.edu 37 7 77764449 77764449 + Silent SNP G G T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:77764449G>T ENST00000354212.4 - 17 3173 c.2920C>A c.(2920-2922)Cgg>Agg p.R974R MAGI2_ENST00000522391.1_Silent_p.R974R|MAGI2_ENST00000419488.1_Silent_p.R960R NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 974 PDZ 5. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GCTAGGATCCGGTCTCCCACT 0.483000 5 159 8.12818e-05 0.00116472 8.12818e-05 1 0 RGPD4 285190 broad.mit.edu 37 2 108488724 108488724 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:108488724G>C ENST00000408999.3 + 20 4341 c.4264G>C c.(4264-4266)Ggg>Cgg p.G1422R RGPD4_ENST00000354986.4_Missense_Mutation_p.G1422R NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1422 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAATATGAAAGGGACAGAAAG 0.378000 21 328 0 0 0.000375601 0 0 GRIA3 2892 broad.mit.edu 37 X 122598956 122598956 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chrX:122598956G>C ENST00000264357.5 + 13 2609 c.2317G>C c.(2317-2319)Gca>Cca p.A773P GRIA3_ENST00000371256.5_Missense_Mutation_p.A773P|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000371251.1_Missense_Mutation_p.A773P|GRIA3_ENST00000542149.1_Missense_Mutation_p.A773P NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 773 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TAAAGGCTCAGCATTAAGGTG 0.398000 5 75 0 0 0.000602214 0 0 DHX35 60625 broad.mit.edu 37 20 37643539 37643539 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr20:37643539C>T ENST00000252011.3 + 14 1397 c.1364C>T c.(1363-1365)tCg>tTg p.S455L DHX35_ENST00000373325.2_Missense_Mutation_p.S455L|DHX35_ENST00000373323.4_Missense_Mutation_p.S424L NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 455 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CCAGCACAGTCGATGGTTCAA 0.388000 14 120 0 0 0.000566183 0 0 DNAJC10 54431 broad.mit.edu 37 2 183584806 183584806 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:183584806C>T ENST00000264065.6 + 4 692 c.277C>T c.(277-279)Cgg>Tgg p.R93W DNAJC10_ENST00000537515.1_Missense_Mutation_p.R93W|DNAJC10_ENST00000469118.1_3'UTR NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 93 J. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGAAGATCTACGGAAAAAGTA 0.313000 6 56 0 0 8.12818e-05 0 0 TNR 7143 broad.mit.edu 37 1 175362964 175362964 + Silent SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:175362964C>T ENST00000367674.1 - 6 2016 c.1308G>A c.(1306-1308)gaG>gaA p.E436E TNR_ENST00000263525.2_Silent_p.E436E NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 436 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ATGAGAAGGGCTCCCACTGCA 0.463000 15 173 0 0 0.000422831 0 0 ZNF341 84905 broad.mit.edu 37 20 32378868 32378868 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr20:32378868G>A ENST00000375200.1 + 15 2475 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T ZNF341_ENST00000342427.2_Missense_Mutation_p.A697T|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA Q9BYN7 ZN341_HUMAN zinc finger protein 341 704 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GCATCAGCGCGCCCACACGGG 0.612000 5 35 0 0 0.000602214 0 0 CDK4 1019 broad.mit.edu 37 12 58145430 58145430 + Missense_Mutation SNP C C A rs104894340 TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr12:58145430C>A ENST00000257904.6 - 2 436 c.71G>T c.(70-72)cGt>cTt p.R24L CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Missense_Mutation_p.R24L|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000551888.1_5'UTR NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 24 Protein kinase. R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3). cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding p.R24L(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GTGGGGATCACGGGCCTTGTA 0.557000 Mis melanoma Hereditary Melanoma 13 29 4.3838e-07 6.51155e-06 0.000151284 1 0 NCOA5 57727 broad.mit.edu 37 20 44691001 44691001 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr20:44691001G>C ENST00000290231.6 - 8 1842 c.1678C>G c.(1678-1680)Cag>Gag p.Q560E NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 560 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GCTGTGGTCTGGCTAACCAGG 0.547000 4 30 0 0 0.000602214 0 0 ATG2B 55102 broad.mit.edu 37 14 96811066 96811066 + Missense_Mutation SNP A A C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:96811066A>C ENST00000359933.4 - 4 1399 c.506T>G c.(505-507)aTa>aGa p.I169R NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 169 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AACAGTATCTATAAAAGTGAC 0.294000 6 32 0 0 0.000274275 0 0 RUNX3 864 broad.mit.edu 37 1 25229017 25229017 + Missense_Mutation SNP C C A rs149811022 TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:25229017C>A ENST00000399916.1 - 6 1324 c.886G>T c.(886-888)Gcc>Tcc p.A296S RUNX3_ENST00000540420.1_Missense_Mutation_p.A189S|RUNX3_ENST00000308873.6_Missense_Mutation_p.A282S|RUNX3_ENST00000338888.3_Missense_Mutation_p.A296S NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 282 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GAGGGCGTGGCGCTGTAGGGG 0.692000 24 66 4.72057e-08 7.18707e-07 0.000586117 1 0 FZD6 8323 broad.mit.edu 37 8 104331000 104331000 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr8:104331000G>A ENST00000358755.4 + 3 677 c.360G>A c.(358-360)gaG>gaA p.E120E FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Silent_p.E88E|FZD6_ENST00000522566.1_Silent_p.E120E NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 120 FZ. angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GGCCTGAGGAGCTTGAATGTG 0.368000 6 44 0 0 3.59834e-05 0 0 PRKD3 23683 broad.mit.edu 37 2 37543552 37543552 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:37543552C>T ENST00000379066.1 - 2 878 c.116G>A c.(115-117)cGa>cAa p.R39Q PRKD3_ENST00000234179.2_Missense_Mutation_p.R39Q O94806 KPCD3_HUMAN protein kinase D3 39 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ATTAGAGAGTCGGGCAGAGAG 0.517000 7 83 0 0 8.12818e-05 0 0 DMBT1 1755 broad.mit.edu 37 10 124339277 124339277 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:124339277A>G ENST00000338354.3 + 10 969 c.863A>G c.(862-864)cAg>cGg p.Q288R DMBT1_ENST00000368909.3_Missense_Mutation_p.Q288R|DMBT1_ENST00000368956.2_Missense_Mutation_p.Q288R|DMBT1_ENST00000330163.4_Missense_Mutation_p.Q288R|DMBT1_ENST00000344338.3_Missense_Mutation_p.Q288R|DMBT1_ENST00000368955.3_Missense_Mutation_p.Q288R|DMBT1_ENST00000359586.6_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 288 SRCR 2. 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) GGAAATGCCCAGTTTGGCCAG 0.607000 7 172 0 0 0.000442599 0 0 ADAM18 8749 broad.mit.edu 37 8 39564352 39564352 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr8:39564352G>A ENST00000265707.5 + 18 1991 c.1946G>A c.(1945-1947)aGa>aAa p.R649K ADAM18_ENST00000541111.1_Missense_Mutation_p.R63K|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.R625K NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 649 EGF-like. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CCTGGACATAGACCTCCAGAT 0.348000 21 58 0 0 0.000295444 0 0 ECT2 1894 broad.mit.edu 37 3 172480505 172480505 + Missense_Mutation SNP A A T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr3:172480505A>T ENST00000417960.1 + 10 1295 c.818A>T c.(817-819)gAt>gTt p.D273V ECT2_ENST00000540509.1_Missense_Mutation_p.D305V|ECT2_ENST00000441497.2_Missense_Mutation_p.D274V|ECT2_ENST00000427830.1_Missense_Mutation_p.D274V|ECT2_ENST00000392692.3_Missense_Mutation_p.D305V|ECT2_ENST00000232458.5_Missense_Mutation_p.D274V NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 274 BRCT 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CCGCTTGGAGATGAAAGATGC 0.333000 4 52 0 0 3.59834e-05 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202391825 202391825 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:202391825C>T ENST00000406302.3 + 3 653 c.500C>T c.(499-501)cCa>cTa p.P167L PPP1R12B_ENST00000336894.4_Missense_Mutation_p.P167L|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.P167L|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.P167L NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 167 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GCAGAAGAGCCAGCCATGAAG 0.458000 13 61 0 0 0.000219431 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006474 118006474 + Missense_Mutation SNP T T A rs144274050 TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr4:118006474T>A ENST00000310754.4 - 1 262 c.76A>T c.(76-78)Atc>Ttc p.I26F NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 26 protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 CAGGAGACGATGTCCGCATGA 0.562000 10 47 0 0 0.00010058 0 0 SCN5A 6331 broad.mit.edu 37 3 38674694 38674694 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr3:38674694G>A ENST00000413689.1 - 2 298 c.105C>T c.(103-105)ggC>ggT p.G35G SCN5A_ENST00000425664.1_Silent_p.G35G|SCN5A_ENST00000443581.1_Silent_p.G35G|SCN5A_ENST00000414099.2_Silent_p.G35G|SCN5A_ENST00000455624.2_Silent_p.G35G|SCN5A_ENST00000450102.2_Silent_p.G35G|SCN5A_ENST00000423572.2_Silent_p.G35G|SCN5A_ENST00000333535.4_Silent_p.G35G|SCN5A_ENST00000449557.2_Silent_p.G35G|SCN5A_ENST00000451551.2_Silent_p.G35G NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 35 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGGTGGTTGAGCCGCGGGCTT 0.637000 3 16 0 0 6.4e-05 0 0 KRT19P2 160313 broad.mit.edu 37 12 95228798 95228798 + RNA SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr12:95228798G>A ENST00000405395.2 + 0 569 NR_036685.1 GCCCAGCTGGGCGATGTGCGA 0.577000 4 10 0 0 0.000602214 0 0 FLOT2 2319 broad.mit.edu 37 17 27208290 27208290 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr17:27208290G>A ENST00000394906.2 - 11 1260 c.1183C>T c.(1183-1185)Cgg>Tgg p.R395W FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.R340W|FLOT2_ENST00000394908.4_Missense_Mutation_p.R340W Q14254 FLOT2_HUMAN flotillin 2 340 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AGCTTCATCCGCTCAGCCTCT 0.612000 9 39 0 0 0.000673444 0 0 RABEPK 10244 broad.mit.edu 37 9 127969995 127969995 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr9:127969995A>G ENST00000373544.1 + 4 372 c.206A>G c.(205-207)gAt>gGt p.D69G RABEPK_ENST00000394125.4_Missense_Mutation_p.D69G|RABEPK_ENST00000259460.8_Missense_Mutation_p.D69G|RABEPK_ENST00000394124.4_Missense_Mutation_p.D69G|RABEPK_ENST00000373538.3_Missense_Mutation_p.D69G Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 69 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 CACACCATGGATCTGGGTAAG 0.507000 10 78 0 0 0.000673444 0 0 DIAPH3 81624 broad.mit.edu 37 13 60545013 60545013 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr13:60545013G>C ENST00000400324.4 - 16 2152 c.1932C>G c.(1930-1932)atC>atG p.I644M DIAPH3_ENST00000400320.1_Missense_Mutation_p.I598M|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I574M|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I644M|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I633M|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I644M|DIAPH3_ENST00000465066.1_5'UTR NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 644 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTCTCATGCTGATTTCAGGTT 0.338000 5 40 0 0 8.12818e-05 0 0 MCTS1 28985 broad.mit.edu 37 X 119739377 119739377 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chrX:119739377A>G ENST00000371315.3 + 2 663 c.130A>G c.(130-132)Atc>Gtc p.I44V MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371317.5_Missense_Mutation_p.I43V NM_001137554.1 NP_001131026.1 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 43 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1) 10 GCTTAATCAAATCATGCCTAA 0.343000 4 139 0 0 0.00024832 0 0 CACNG3 10368 broad.mit.edu 37 16 24268206 24268206 + Missense_Mutation SNP C C G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:24268206C>G ENST00000005284.3 + 1 1333 c.131C>G c.(130-132)tCt>tGt p.S44C NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 44 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 voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) AGGACTAAATCTACAAGTGAT 0.453000 3 86 0 0 0.00024832 0 0 TMEM177 80775 broad.mit.edu 37 2 120439204 120439204 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:120439204G>C ENST00000424086.1 + 2 1248 c.775G>C c.(775-777)Gcc>Ccc p.A259P TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.A259P|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A259P NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 259 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) GGGCAACCTGGCCCTGCGCAG 0.587000 7 50 0 0 8.12818e-05 0 0 ISL1 3670 broad.mit.edu 37 5 50683467 50683467 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr5:50683467C>T ENST00000230658.7 + 3 947 c.362C>T c.(361-363)gCg>gTg p.A121V ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.A121V NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 121 LIM zinc-binding 2. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GACGAATTTGCGCTTCGGGAG 0.632000 7 30 0 0 8.12818e-05 0 0 RCSD1 92241 broad.mit.edu 37 1 167654689 167654689 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:167654689C>T ENST00000367854.3 + 3 471 c.140C>T c.(139-141)cCg>cTg p.P47L RCSD1_ENST00000537350.1_Intron NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 47 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CGAAGGAAACCGCCCTGTTCC 0.577000 7 46 0 0 8.12818e-05 0 0 UMODL1 89766 broad.mit.edu 37 21 43522353 43522353 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr21:43522353G>A ENST00000400427.1 + 8 1444 c.1048G>A c.(1048-1050)Gag>Aag p.E350K UMODL1_ENST00000400424.1_Missense_Mutation_p.E350K|UMODL1_ENST00000408910.2_Missense_Mutation_p.E422K|UMODL1_ENST00000408989.2_Missense_Mutation_p.E422K|C21orf128_ENST00000329015.2_3'UTR NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 422 Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CAGCAGTGTGGAGTACCAGGA 0.438000 8 144 0 0 0.000274275 0 0 TUFM 7284 broad.mit.edu 37 16 28855408 28855408 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:28855408G>A ENST00000313511.3 - 8 1075 c.937C>T c.(937-939)Cac>Tac p.H313Y NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 310 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 AGGCTCTTGTGGAACATCTCA 0.622000 11 62 0 0 0.000673444 0 0 PRPF40A 55660 broad.mit.edu 37 2 153547493 153547494 + Splice_Site INS - - A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:153547493_153547494insA ENST00000410080.1 - 5 870 c.e5-1 NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 GATGCTGTACCTAAAAAATAAA 0.267 2 4 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242468 55242482 + In_Frame_Del DEL ATTAAGAGAAGCAAC ATTAAGAGAAGCAAC - rs121913438 TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:55242468_55242482delATTAAGAGAAGCAAC ENST00000275493.2 + 19 2415_2429 c.2238_2252delATTAAGAGAAGCAAC c.(2236-2253)gaa>ga p.ELREAT746del EGFR_ENST00000455089.1_In_Frame_Del_p.ELREAT701del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREAT693del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 746 Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.T751_I759>N(8)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.L747S(6)|p.K745_E749del(6)|p.E746_T751>V(6)|p.E746_S752>A(6)|p.T751I(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.T751_I759>S(3)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.T751_I759del(2)|p.L747_K754>ST(1)|p.A750_K754del(1)|p.T751_I759>REA(1)|p.L747_P753del(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTATCAAGGAATTAAGAGAAGCAACATCTCCGAAA 0.479 E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 66 108 --- --- --- --- KIAA1429 25962 broad.mit.edu 37 8 95538800 95538800 + Frame_Shift_Del DEL G G - TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr8:95538800delG ENST00000297591.5 - 8 1747 c.1672delC c.(1672-1674)atfs p.H558fs KIAA1429_ENST00000437199.1_Frame_Shift_Del_p.H558fs|KIAA1429_ENST00000421249.2_Frame_Shift_Del_p.H558fs NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 558 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TCATAGAAATGGCATTTTTGG 0.398 50 118 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26114737 26114737 + RNA DEL C C - TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr20:26114737delC ENST00000416563.1 - 0 97 atctccaccaccaactgcatg 0.632 4 2 --- --- --- ---