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 DCHS1 8642 broad.mit.edu 37 11 6655409 6655409 + Silent SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:6655409C>A ENST00000299441.3 - 3 2337 c.1926G>T c.(1924-1926)cgG>cgT p.R642R RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 642 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTCCAGGGTCCGGGTTGTGC 0.582000 20 71 7.45023e-12 8.30168e-12 1 1 0 PABPC1L 80336 broad.mit.edu 37 20 43541300 43541300 + Splice_Site SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:43541300G>A ENST00000255136.3 + 2 275 c.e2-1 PABPC1L_ENST00000537323.1_Splice_Site|PABPC1L_ENST00000217073.2_Splice_Site|PABPC1L_ENST00000217074.4_Splice_Site NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 CTTCTGTCCAGCGGAGCGGGC 0.502000 4 65 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184075861 184075861 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:184075861C>G ENST00000265593.4 - 5 675 c.504G>C c.(502-504)aaG>aaC p.K168N CLCN2_ENST00000434054.2_Missense_Mutation_p.K124N|CLCN2_ENST00000457512.1_Missense_Mutation_p.K168N|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.K168N NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 168 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCAAGATGGTCTTCATCTCAG 0.577000 49 85 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 2117711 2117711 + Missense_Mutation SNP A A G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr6:2117711A>G ENST00000380815.4 - 3 496 c.227T>C c.(226-228)aTt>aCt p.I76T GMDS_ENST00000530927.1_Missense_Mutation_p.I46T NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 76 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) ACTTCCTTCAATGTGAGCCTG 0.373000 27 42 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6643058 6643058 + Silent SNP G G A rs148587402 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:6643058G>A ENST00000299441.3 - 21 10260 c.9849C>T c.(9847-9849)agC>agT p.S3283S RP11-732A19.5_ENST00000526456.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 3283 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGACTCTGCGCTGAGTGCTG 0.647000 4 10 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 70 0 0 1 0 0 PRR5 55615 broad.mit.edu 37 22 45133115 45133115 + Missense_Mutation SNP G G T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr22:45133115G>T ENST00000403581.1 + 10 1833 c.1224G>T c.(1222-1224)caG>caT p.Q408H PRR5_ENST00000336985.6_Missense_Mutation_p.Q385H|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.Q376H|ARHGAP8_ENST00000389773.5_Intron NM_001198721.1 NP_001185650.1 proline rich 5 (renal) p.Q408H(1)|p.Q385H(1) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) GGGGCCGGCAGAGTGTCGTGT 0.587000 16 41 1.99824e-07 2.16476e-07 1 1 0 KY 339855 broad.mit.edu 37 3 134323201 134323201 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:134323201C>A ENST00000508956.1 - 10 1200 c.1143G>T c.(1141-1143)ttG>ttT p.L381F KY_ENST00000423778.2_Missense_Mutation_p.L402F|KY_ENST00000503669.1_3'UTR Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 402 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 GGTACACCTCCAACTTCATCC 0.547000 15 44 0.000219431 0.000225206 1 1 0 KIAA1755 85449 broad.mit.edu 37 20 36869030 36869030 + Nonsense_Mutation SNP A A T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:36869030A>T ENST00000279024.4 - 3 1774 c.1503T>A c.(1501-1503)tgT>tgA p.C501* NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 501 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AGTAGAGGGAACACAGGACTT 0.522000 6 158 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4796013 4796013 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr17:4796013C>G ENST00000355280.6 + 19 2457 c.2261C>G c.(2260-2262)tCt>tGt p.S754C MINK1_ENST00000453408.3_Missense_Mutation_p.S734C|MINK1_ENST00000347992.7_Missense_Mutation_p.S717C NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 754 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CTTCCAGCCTCTCACGGGCAC 0.682000 12 41 0 0 1 0 0 EPT1 85465 broad.mit.edu 37 2 26596256 26596256 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:26596256C>G ENST00000260585.7 + 5 451 c.332C>G c.(331-333)gCt>gGt p.A111G NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) 111 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding GGAAAGCAAGCTCGCAGAACC 0.423000 3 23 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160151813 160151813 + Nonsense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:160151813C>A ENST00000368081.4 + 20 3432 c.2961C>A c.(2959-2961)taC>taA p.Y987* ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Nonsense_Mutation_p.Y123* NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 987 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGCGAATGTACCCACTCAAGT 0.522000 33 85 8.73648e-17 9.90473e-17 1 1 0 NCF2 4688 broad.mit.edu 37 1 183534894 183534894 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:183534894G>A ENST00000413720.1 - 9 1084 c.810C>T c.(808-810)tcC>tcT p.S270S NCF2_ENST00000418089.1_Silent_p.S234S|NCF2_ENST00000367536.1_Silent_p.S315S|NCF2_ENST00000367535.3_Silent_p.S315S NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 315 SH3 1. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 CTGGGATGTCGGACTGCGGAG 0.592000 26 75 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 3 34 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142446032 142446032 + RNA SNP T T C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr8:142446032T>C ENST00000606664.1 + 0 1388 MROH5_ENST00000430863.1_RNA AGCTGGGCATTGGTCCTTCAG 0.672000 5 51 0 0 1 0 0 TNFSF15 9966 broad.mit.edu 37 9 117552903 117552903 + Silent SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr9:117552903G>C ENST00000374045.4 - 4 698 c.585C>G c.(583-585)ctC>ctG p.L195L TNFSF15_ENST00000374044.1_Silent_p.L118L NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 195 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 TGGTCCCCATGAGGAGCTGGG 0.532000 10 16 0 0 1 0 0 C3orf72 401089 broad.mit.edu 37 3 138669110 138669110 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:138669110C>T ENST00000383165.3 + 3 355 c.224C>T c.(223-225)cCg>cTg p.P75L NM_001040061.2 NP_001035150.1 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 75 large_intestine(1)|lung(3) 4 TCCCCAGGGCCGGGAATCCTG 0.706000 17 34 0 0 1 0 0 EIF3H 8667 broad.mit.edu 37 8 117661114 117661114 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr8:117661114C>G ENST00000521861.1 - 6 782 c.759G>C c.(757-759)atG>atC p.M253I EIF3H_ENST00000276682.4_Missense_Mutation_p.M267I NM_003756.2 NP_003747.1 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, subunit H 253 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) TATCTTGGCTCATTTCATCCA 0.343000 20 43 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18276475 18276475 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr10:18276475C>T ENST00000377369.2 + 7 1437 c.1164C>T c.(1162-1164)gtC>gtT p.V388V SLC39A12_ENST00000377371.3_Silent_p.V388V|SLC39A12_ENST00000539911.1_Silent_p.V254V|SLC39A12_ENST00000377374.4_Silent_p.V388V NM_001145195.1|NM_001282733.1|NM_001282734.1 NP_001138667.1|NP_001269662.1|NP_001269663.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 388 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CAGCGCTGGTCCTTTTCCATA 0.547000 7 112 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40392611 40392611 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:40392611C>T ENST00000221347.6 - 16 7900 c.7893G>A c.(7891-7893)ccG>ccA p.P2631P NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2631 VWFD 6. extracellular region protein binding 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) AGGTGGGCGGCGGCAGGCAGG 0.647000 5 45 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255135 140255135 + Silent SNP G G T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:140255135G>T ENST00000398631.2 + 1 78 c.78G>T c.(76-78)gtG>gtT p.V26V PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGGAGGTGGGGAGCGGCC 0.642000 12 50 2.80697e-09 3.07506e-09 1 1 0 RNF123 63891 broad.mit.edu 37 3 49735549 49735549 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:49735549C>T ENST00000327697.6 + 7 606 c.462C>T c.(460-462)atC>atT p.I154I RNF123_ENST00000432042.1_Silent_p.I8I NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 154 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GGTGCACCATCAGCTGCCGCT 0.617000 28 50 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769234 140769234 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:140769234G>C ENST00000519479.1 + 1 1783 c.1783G>C c.(1783-1785)Gac>Cac p.D595H PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGACGCAGACTCAGGACA 0.677000 6 48 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21101749 21101749 + Missense_Mutation SNP C C G rs146601168 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr10:21101749C>G ENST00000377122.4 - 24 2863 c.2467G>C c.(2467-2469)Ggg>Cgg p.G823R NEBL_ENST00000417816.2_Missense_Mutation_p.G160R|NEBL_ENST00000377159.4_Missense_Mutation_p.G126R NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 823 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGGTGGACCCCTTTATAGGCA 0.532000 9 58 0 0 1 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117787898 117787898 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:117787898C>T ENST00000526090.1 - 3 694 c.543G>A c.(541-543)tcG>tcA p.S181S TMPRSS13_ENST00000524993.1_Silent_p.S181S|TMPRSS13_ENST00000430170.2_Silent_p.S181S|TMPRSS13_ENST00000528626.1_Intron|TMPRSS13_ENST00000445164.2_Silent_p.S181S NM_001206790.1 NP_001193719.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 176 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GGATGATGAGCGAAACCACCA 0.637000 9 39 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377615 18377615 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:18377615G>C ENST00000392413.4 - 3 950 c.735C>G c.(733-735)atC>atG p.I245M KIAA1683_ENST00000600359.3_Missense_Mutation_p.I199M|KIAA1683_ENST00000600328.3_Missense_Mutation_p.I245M NM_001145304.1 NP_001138776.1 Q9H0B3 K1683_HUMAN KIAA1683 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGGGAAATCTGATGGTGACCG 0.617000 22 57 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67283838 67283838 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chrX:67283838C>A ENST00000355520.5 - 21 2657 c.2016G>T c.(2014-2016)aaG>aaT p.K672N OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 672 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 TAGACACCAACTTCCCCACGT 0.587000 10 72 2.17888e-05 2.28431e-05 1 1 0 PATL1 219988 broad.mit.edu 37 11 59406552 59406552 + Nonsense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:59406552G>A ENST00000300146.9 - 18 2344 c.2260C>T c.(2260-2262)Cag>Tag p.Q754* AP000442.1_ENST00000531108.1_RNA|AP000442.1_ENST00000531311.1_RNA NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 754 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TTCAGTTTCTGCCGGTCAACA 0.473000 11 36 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142446033 142446033 + RNA SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr8:142446033G>C ENST00000606664.1 + 0 1389 MROH5_ENST00000430863.1_RNA GCTGGGCATTGGTCCTTCAGG 0.672000 5 51 0 0 1 0 0 AHCY 191 broad.mit.edu 37 20 32880237 32880237 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:32880237G>A ENST00000538132.1 - 4 674 c.288C>T c.(286-288)ccC>ccT p.P96P AHCY_ENST00000217426.2_Silent_p.P124P|AHCY_ENST00000468908.1_5'UTR NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 124 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TCATGTTGAGGGGCCCGTCCT 0.617000 18 89 0 0 1 0 0 DTNBP1 84062 broad.mit.edu 37 6 15627647 15627647 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr6:15627647G>A ENST00000338950.5 - 5 387 c.282C>T c.(280-282)ctC>ctT p.L94L DTNBP1_ENST00000344537.5_Silent_p.L94L|DTNBP1_ENST00000355917.3_Silent_p.L94L NM_183040.2 NP_898861.1 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 94 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) GCAGCTCCACGAGGCTTGTCT 0.483000 Hermansky-Pudlak syndrome 10 44 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71740847 71740847 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr18:71740847C>A ENST00000269500.5 - 10 1489 c.1154G>T c.(1153-1155)gGa>gTa p.G385V FBXO15_ENST00000419743.2_Missense_Mutation_p.G461V|FBXO15_ENST00000580806.1_5'UTR NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 385 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GTATGTCTGTCCCAAGAAGCT 0.512000 40 205 6.5261e-18 7.48582e-18 1 1 0 IRX1 79192 broad.mit.edu 37 5 3599660 3599660 + Missense_Mutation SNP C C A rs143830823 byFrequency TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:3599660C>A ENST00000302006.3 + 2 650 c.598C>A c.(598-600)Cag>Aag p.Q200K CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 200 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CAGCAAGGACCAGGAAGATGG 0.622000 13 43 4.3838e-07 4.72288e-07 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131348125 131348125 + Nonsense_Mutation SNP G G T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr9:131348125G>T ENST00000358161.5 + 19 2772 c.2659G>T c.(2659-2661)Gag>Tag p.E887* SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E887*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.E887* Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 887 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCAGGACCTGGAGGACTCTCT 0.557000 34 52 4.3181e-19 4.98242e-19 1 1 0 VPS33A 65082 broad.mit.edu 37 12 122750907 122750907 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr12:122750907C>T ENST00000267199.4 - 1 161 c.49G>A c.(49-51)Gag>Aag p.E17K RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E17K|VPS33A_ENST00000451053.2_Missense_Mutation_p.E17K NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 17 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CGCACCGCCTCGCGCAACACG 0.677000 15 54 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763390 77763390 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr8:77763390G>A ENST00000521891.2 + 10 4681 c.4233G>A c.(4231-4233)aaG>aaA p.K1411K ZFHX4_ENST00000518282.1_Silent_p.K1385K|ZFHX4_ENST00000455469.2_Silent_p.K1366K|ZFHX4_ENST00000050961.6_Silent_p.K1366K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1366 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTATGCAGAAGCTTCAGATAC 0.438000 HNSCC(33;0.089) 6 23 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986173 61986173 + Missense_Mutation SNP T T C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr13:61986173T>C ENST00000409186.1 - 5 4164 c.2059A>G c.(2059-2061)Ata>Gta p.I687V PCDH20_ENST00000409204.4_Missense_Mutation_p.I687V Q8N6Y1 PCD20_HUMAN protocadherin 20 660 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CCTGTATCTATGACAAAAATA 0.478000 38 62 0 0 1 0 0 LRRC24 441381 broad.mit.edu 37 8 145747933 145747933 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr8:145747933C>T ENST00000529415.2 - 5 1585 c.1468G>A c.(1468-1470)Gac>Aac p.D490N LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.D487N Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 490 integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GGGCCGCAGTCAGCGGGCGCC 0.741000 3 4 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164244 150164244 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr7:150164244C>G ENST00000307271.3 + 2 1032 c.458C>G c.(457-459)cCt>cGt p.P153R NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 153 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AAAAACAAACCTCTCAAGCAG 0.448000 7 193 0 0 1 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221670 10221670 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:10221670G>A ENST00000428358.1 + 12 1423 c.1251G>A c.(1249-1251)cgG>cgA p.R417R PPAN-P2RY11_ENST00000393796.4_Silent_p.R417R|PPAN_ENST00000393793.1_Silent_p.R364R|PPAN_ENST00000253107.7_Silent_p.R417R|PPAN_ENST00000556468.1_Silent_p.R417R NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 417 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CTCCAGGGCGGAAGCGGAAGC 0.632000 13 97 0 0 1 0 0 PIGV 55650 broad.mit.edu 37 1 27120805 27120805 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:27120805G>A ENST00000374145.1 + 3 962 c.280G>A c.(280-282)Gcc>Acc p.A94T PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Missense_Mutation_p.A94T NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 94 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) TTTCCCCTTGGCCCTGCTGGT 0.517000 11 39 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817755 4817755 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:4817755G>C ENST00000248244.5 - 2 864 c.635C>G c.(634-636)tCc>tGc p.S212C NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 212 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CATGGTAGGGGACTGGCTGAT 0.662000 25 46 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134027937 134027937 + Missense_Mutation SNP T T C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:134027937T>C ENST00000534548.2 - 31 4124 c.4060A>G c.(4060-4062)Atc>Gtc p.I1354V NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1354 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GAATTCAGGATTGCAATGGTG 0.532000 8 194 0 0 1 0 0 ABHD12 26090 broad.mit.edu 37 20 25290154 25290154 + Missense_Mutation SNP T T G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:25290154T>G ENST00000339157.5 - 7 949 c.677A>C c.(676-678)cAc>cCc p.H226P ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.H226P NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 226 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 GTCAAAAACGTGGAGTGCGTC 0.597000 8 70 0 0 1 0 0 ZNF705A 440077 broad.mit.edu 37 12 8328510 8328510 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr12:8328510G>C ENST00000359286.4 + 4 379 c.290G>C c.(289-291)aGa>aCa p.R97T NM_001004328.2|NM_001278713.1 NP_001004328.1|NP_001265642.1 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4) 18 Kidney(36;0.0877) CCTATCACCAGAAAAGACGCA 0.343000 19 55 0 0 1 0 0 GPM6B 2824 broad.mit.edu 37 X 13792691 13792691 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chrX:13792691C>T ENST00000454189.2 - 7 840 c.713G>A c.(712-714)aGt>aAt p.S238N GPM6B_ENST00000356942.5_Missense_Mutation_p.S257N|GPM6B_ENST00000398361.3_Missense_Mutation_p.S171N|GPM6B_ENST00000316715.4_Intron|GPM6B_ENST00000355135.2_Missense_Mutation_p.S297N|GPM6B_ENST00000493677.1_Intron NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 257 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 ATCTTCCCGACTCTTAAACTT 0.413000 7 77 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38338840 38338840 + Missense_Mutation SNP A A G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:38338840A>G ENST00000322350.5 + 3 594 c.248A>G c.(247-249)gAg>gGg p.E83G EGFLAM_ENST00000354891.3_Missense_Mutation_p.E83G NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 83 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TCCCTGCAGGAGCAGTTGCAC 0.552000 8 26 0 0 1 0 0 CYP27C1 339761 broad.mit.edu 37 2 127951414 127951414 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:127951414C>A ENST00000335247.7 - 6 879 c.749G>T c.(748-750)cGg>cTg p.R250L CYP27C1_ENST00000409327.1_Missense_Mutation_p.R250L NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 250 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.R250Q(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) CTGGGTGACCCGGCCGTTCCC 0.577000 5 38 0.0215528 0.0216639 1 1 0 MUC17 140453 broad.mit.edu 37 7 100678978 100678978 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr7:100678978G>A ENST00000306151.4 + 3 4345 c.4281G>A c.(4279-4281)ggG>ggA p.G1427G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1427 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACCCCTGGGACCACTTCTG 0.493000 59 351 0 0 1 0 0 EMC7 56851 broad.mit.edu 37 15 34393975 34393975 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr15:34393975C>T ENST00000256545.4 - 1 174 c.66G>A c.(64-66)caG>caA p.Q22Q EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 CCTCCGAGCTCTGGACATCCC 0.657000 26 160 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77246388 77246388 + Missense_Mutation SNP G G C rs55839918 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr18:77246388G>C ENST00000253506.5 + 9 2602 c.2233G>C c.(2233-2235)Gtg>Ctg p.V745L NFATC1_ENST00000329101.4_Missense_Mutation_p.V732L|NFATC1_ENST00000545796.1_Missense_Mutation_p.V273L|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.V732L|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Missense_Mutation_p.V273L|NFATC1_ENST00000427363.2_Missense_Mutation_p.V745L NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CTCCTGCCTCGTGGCCGGCTT 0.657000 23 206 0 0 1 0 0 BCAP29 55973 broad.mit.edu 37 7 107258966 107258966 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr7:107258966G>A ENST00000379119.2 + 8 977 c.963G>A c.(961-963)ttG>ttA p.L321L BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000005259.4_3'UTR|BCAP29_ENST00000445771.2_Silent_p.L321L|BCAP29_ENST00000379117.2_3'UTR|BCAP29_ENST00000465919.1_3'UTR NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 0 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 CAAAATATTTGATGATGTTTC 0.284000 5 14 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22130322 22130322 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr16:22130322G>A ENST00000389398.5 + 12 1186 c.1090G>A c.(1090-1092)Gag>Aag p.E364K VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 364 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CAGCCCCTGTGAGGCGCTCAC 0.617000 6 19 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 24994690 24994690 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:24994690G>A ENST00000537502.1 - 7 2641 c.1110C>T c.(1108-1110)atC>atT p.I370I ACSS1_ENST00000542618.1_Silent_p.I332I|ACSS1_ENST00000323482.4_Silent_p.I453I|ACSS1_ENST00000432802.2_Silent_p.I453I Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 453 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCCGTGGTGCGATGCAGATGC 0.572000 6 21 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51367625 51367625 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:51367625C>G ENST00000266037.9 + 33 3482 c.3459C>G c.(3457-3459)gaC>gaG p.D1153E NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1153 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GGAAAGGTGACGAGAGCTACA 0.527000 4 9 0 0 1 0 0 LOXL3 84695 broad.mit.edu 37 2 74776595 74776595 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:74776595G>C ENST00000264094.3 - 4 664 c.593C>G c.(592-594)tCg>tGg p.S198W LOXL3_ENST00000409249.1_Missense_Mutation_p.S198W|LOXL3_ENST00000409986.1_Intron|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409549.1_Missense_Mutation_p.S198W|LOXL3_ENST00000393937.2_Intron NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 198 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 GCACACTTGCGACCAGCCGTC 0.652000 20 22 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5778493 5778493 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:5778493G>A ENST00000381624.3 + 22 2264 c.2203G>A c.(2203-2205)Ggg>Agg p.G735R CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 735 integral to membrane CAGCATCCTGGGGTCCGTTTG 0.562000 17 56 0 0 1 0 0 CCDC14 64770 broad.mit.edu 37 3 123634164 123634164 + Missense_Mutation SNP T T C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:123634164T>C ENST00000485727.1 - 9 6316 c.1724A>G c.(1723-1725)gAt>gGt p.D575G CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Missense_Mutation_p.D615G|CCDC14_ENST00000488653.2_Missense_Mutation_p.D775G|CCDC14_ENST00000433542.2_Missense_Mutation_p.D734G|CCDC14_ENST00000489746.1_Missense_Mutation_p.D575G Q49A88 CCD14_HUMAN coiled-coil domain containing 14 775 centrosome NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) AATTGTATTATCCAAATTATG 0.388000 17 72 0 0 1 0 0 TNFSF9 8744 broad.mit.edu 37 19 6534883 6534883 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:6534883G>A ENST00000245817.3 + 3 609 c.571G>A c.(571-573)Gag>Aag p.E191K NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 191 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 CGCCTCCTCCGAGGCTCGGAA 0.692000 7 14 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233390929 233390929 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:233390929G>A ENST00000258385.3 + 1 36 c.4G>A c.(4-6)Gag>Aag p.E2K CHRND_ENST00000536614.1_Missense_Mutation_p.E2K|CHRND_ENST00000543200.1_Missense_Mutation_p.E2K|CHRND_ENST00000457943.2_5'UTR NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 2 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GGATGGGATGGAGGGGCCAGT 0.667000 15 67 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100503108 100503108 + Silent SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr4:100503108C>G ENST00000457717.1 + 3 364 c.108C>G c.(106-108)ctC>ctG p.L36L MTTP_ENST00000265517.5_Silent_p.L36L|MTTP_ENST00000511045.1_Silent_p.L63L|MTTP_ENST00000422897.2_Silent_p.L36L NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 36 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.L36L(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TGTACAAGCTCACGTACTCCA 0.458000 14 79 0 0 1 0 0 ZFP69 339559 broad.mit.edu 37 1 40961283 40961283 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:40961283C>G ENST00000372706.1 + 6 2139 c.1133C>G c.(1132-1134)tCt>tGt p.S378C ZFP69_ENST00000372705.3_Missense_Mutation_p.S378C|RP11-656D10.3_ENST00000450713.1_RNA ZFP69 zinc finger protein AGGACTCATTCTGGAGAGAAA 0.398000 7 47 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136597608 136597608 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr9:136597608C>G ENST00000371872.4 - 3 704 c.447G>C c.(445-447)caG>caC p.Q149H SARDH_ENST00000298628.5_Missense_Mutation_p.Q149H|SARDH_ENST00000371867.1_Missense_Mutation_p.Q60H|SARDH_ENST00000439388.1_Missense_Mutation_p.Q149H|SARDH_ENST00000422262.2_5'UTR NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 149 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 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) GGCCCCCATTCTGGATCCAGC 0.672000 71 116 0 0 1 0 0 KCNK15 60598 broad.mit.edu 37 20 43379298 43379298 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:43379298G>A ENST00000372861.3 + 2 943 c.812G>A c.(811-813)aGc>aAc p.S271N NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 271 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) gcgcccgAGAGCCGTGGCCTC 0.756000 3 11 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41113416 41113416 + Silent SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:41113416C>G ENST00000308370.7 + 10 1338 c.1338C>G c.(1336-1338)ctC>ctG p.L446L LTBP4_ENST00000396819.3_Silent_p.L379L|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Silent_p.L409L|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 446 TB 2. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTGCCAGCTCTGCCCACCCT 0.657000 5 17 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96370376 96370376 + Splice_Site SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr12:96370376C>T ENST00000261208.3 - 19 2131 c.1763G>A c.(1762-1764)aGg>aAg p.R588K HAL_ENST00000538703.1_Splice_Site_p.R588K|HAL_ENST00000541929.1_Splice_Site_p.R380K NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 588 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TTGATCTTACCTTACAACAGA 0.517000 11 59 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193031849 193031849 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:193031849C>G ENST00000342358.4 - 19 2409 c.2292G>C c.(2290-2292)gaG>gaC p.E764D ATP13A5-AS1_ENST00000414634.1_RNA NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 764 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TCTCTTGGTTCTCCACCAGCT 0.517000 16 98 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121207652 121207652 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr10:121207652G>A ENST00000392870.2 + 13 1613 c.1284G>A c.(1282-1284)gcG>gcA p.A428A GRK5_ENST00000369108.3_Silent_p.A323A NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 428 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) CGAAAGATGCGAAGCAGAGGC 0.597000 18 108 0 0 1 0 0 MID1 4281 broad.mit.edu 37 X 10534939 10534939 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chrX:10534939C>T ENST00000317552.4 - 2 1049 c.649G>A c.(649-651)Gac>Aac p.D217N MID1_ENST00000380779.1_Missense_Mutation_p.D217N|MID1_ENST00000380780.1_Missense_Mutation_p.D217N|MID1_ENST00000380782.2_Missense_Mutation_p.D217N|MID1_ENST00000453318.2_Missense_Mutation_p.D217N|MID1_ENST00000380785.1_Missense_Mutation_p.D217N|MID1_ENST00000380787.1_Missense_Mutation_p.D217N NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 217 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 TTCAATTTGTCATAGCGCTCA 0.473000 10 48 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16266988 16266988 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr22:16266988C>A ENST00000343518.6 - 9 1512 c.1461G>T c.(1459-1461)agG>agT p.R487S NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 487 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTCTGCTTTTCCTTGGTGGAA 0.433000 8 289 1.49906e-05 1.58009e-05 1 1 0 SOX12 6666 broad.mit.edu 37 20 307492 307492 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:307492C>G ENST00000342665.2 + 1 1254 c.924C>G c.(922-924)atC>atG p.I308M SOX12_ENST00000544632.1_Missense_Mutation_p.I308M|RP5-1103G7.4_ENST00000442637.1_RNA NM_006943.2 NP_008874.2 O15370 SOX12_HUMAN SRY (sex determining region Y)-box 12 308 cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CGTCTAGCATCGCAGACCTGG 0.637000 16 79 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49672522 49672522 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr16:49672522G>A ENST00000561648.1 - 4 594 c.541C>T c.(541-543)Cgt>Tgt p.R181C ZNF423_ENST00000567169.1_Missense_Mutation_p.R64C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R64C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R181C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R121C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R121C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R121C NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 181 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGCCGGTCACGGCTCCTCTTG 0.582000 23 24 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68810291 68810291 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr4:68810291G>A ENST00000508048.1 - 3 230 c.195C>T c.(193-195)ttC>ttT p.F65F TMPRSS11A_ENST00000334830.7_Silent_p.F66F|TMPRSS11A_ENST00000396188.2_Silent_p.F66F|UBA6-AS1_ENST00000500538.2_RNA Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 66 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TGCTTTGTCCGAAATTGTTAT 0.333000 27 54 0 0 1 0 0 RAD51C 5889 broad.mit.edu 37 17 56770065 56770065 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr17:56770065C>A ENST00000337432.4 + 1 132 c.61C>A c.(61-63)Cca>Aca p.P21T RAD51C_ENST00000487921.1_Intron|RAD51C_ENST00000421782.2_Missense_Mutation_p.P21T|RAD51C_ENST00000583539.1_Missense_Mutation_p.P21T NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 21 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCGCTGTCTCCAGCGGTGCG 0.592000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 39 100 2.2871e-25 2.65466e-25 1 1 0 KIAA1109 84162 broad.mit.edu 37 4 123249453 123249453 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr4:123249453G>A ENST00000264501.4 + 66 11563 c.11190G>A c.(11188-11190)gaG>gaA p.E3730E KIAA1109_ENST00000388738.3_Silent_p.E3730E Q2LD37 K1109_HUMAN KIAA1109 3730 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AAGATTCCGAGAAGGATGAAA 0.418000 11 41 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26500796 26500796 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr10:26500796G>C ENST00000265944.5 + 35 4921 c.4755G>C c.(4753-4755)gaG>gaC p.E1585D MYO3A_ENST00000543632.1_Missense_Mutation_p.E601Q NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1585 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGAGCCCCGAGAAGGAGGAGG 0.652000 7 57 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071764 134071764 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr4:134071764C>T ENST00000264360.5 + 1 1295 c.469C>T c.(469-471)Cgc>Tgc p.R157C NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CAACTCCTTGCGCGACTACGA 0.622000 10 89 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114162391 114162391 + Silent SNP A A C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:114162391A>C ENST00000369615.1 + 8 1172 c.1110A>C c.(1108-1110)ccA>ccC p.P370P MAGI3_ENST00000369617.4_Silent_p.P395P|MAGI3_ENST00000369611.4_Silent_p.P370P|MAGI3_ENST00000307546.9_Silent_p.P370P NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 395 WW 2. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGAAAATCCAGTGGAGGAAG 0.323000 14 47 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49394933 49394933 + Missense_Mutation SNP A A G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:49394933A>G ENST00000419783.1 - 2 821 c.500T>C c.(499-501)tTc>tCc p.F167S GPX1_ENST00000419349.1_3'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 167 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) GCCCACCAGGAACTTCTCAAA 0.622000 8 68 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926794 72926794 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr17:72926794G>A ENST00000331427.4 + 6 1156 c.1064G>A c.(1063-1065)cGg>cAg p.R355Q OTOP2_ENST00000580223.1_Missense_Mutation_p.R355Q NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 355 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) TTTGACCGCCGGGCCATGGAC 0.592000 9 99 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536233 31536233 + Silent SNP G G A rs2232175 byFrequency TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr22:31536233G>A ENST00000215885.3 - 1 360 c.108C>T c.(106-108)gcC>gcT p.A36A NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 36 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TGCCAGGGACGGCCTTGGTCA 0.662000 11 83 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66949261 66949261 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr16:66949261C>G ENST00000299752.4 - 6 638 c.445G>C c.(445-447)Gag>Cag p.E149Q CDH16_ENST00000565796.1_Missense_Mutation_p.E149Q|CDH16_ENST00000394055.3_Missense_Mutation_p.E149Q|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000570262.1_Missense_Mutation_p.E69Q NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 149 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCTGAAGCCTCAAGGAAGAGG 0.582000 32 41 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49736208 49736208 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:49736208C>T ENST00000327697.6 + 9 735 c.591C>T c.(589-591)atC>atT p.I197I RNF123_ENST00000432042.1_Silent_p.I51I NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 197 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CGGGGGACATCGTGAGCTGCC 0.612000 19 34 0 0 1 0 0 LOC643923 643923 broad.mit.edu 37 11 107463146 107463146 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:107463146C>T ENST00000600612.1 + 2 357 c.344C>T c.(343-345)tCt>tTt p.S115F ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000531234.1_Intron AGGCATTGTTCTGCATCTCTG 0.483000 15 31 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516420 195516420 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:195516420C>T ENST00000463781.3 - 2 2490 c.2031G>A c.(2029-2031)tcG>tcA p.S677S MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S677S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 682 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TTTCTGAGGGCGAGTGCCCAC 0.582000 31 88 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79832928 79832928 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr4:79832928C>T ENST00000335016.5 + 16 3393 c.3227C>T c.(3226-3228)tCt>tTt p.S1076F PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 1076 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 CCCTTCCATTCTCCAGACCTG 0.532000 35 71 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33413826 33413826 + Missense_Mutation SNP A A G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:33413826A>G ENST00000404816.2 + 7 1962 c.1609A>G c.(1609-1611)Aca>Gca p.T537A LTBP1_ENST00000402934.1_Missense_Mutation_p.T211A|LTBP1_ENST00000390003.4_Missense_Mutation_p.T211A|LTBP1_ENST00000404525.1_Missense_Mutation_p.T211A|LTBP1_ENST00000354476.3_Missense_Mutation_p.T537A|LTBP1_ENST00000418533.2_Missense_Mutation_p.T211A|LTBP1_ENST00000407925.1_Missense_Mutation_p.T211A Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 537 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CATACATTCCACATACTCCCA 0.537000 16 165 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798176 7798176 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:7798176C>T ENST00000303635.7 + 16 4023 c.3816C>T c.(3814-3816)atC>atT p.I1272I CAMTA1_ENST00000439411.2_Silent_p.I1272I NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1272 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGCCAAATATCAGGAAGCAAA 0.532000 T WWTR1 epitheliod hemangioendothelioma 13 49 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88872213 88872213 + Silent SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr16:88872213C>A ENST00000301019.4 + 5 1387 c.768C>A c.(766-768)ccC>ccA p.P256P NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 256 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) GCAGTGTCCCCACCTTCAAGG 0.612000 3 23 6.4e-05 6.60317e-05 1 1 0 RET 5979 broad.mit.edu 37 10 43600508 43600508 + Missense_Mutation SNP T T C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr10:43600508T>C ENST00000355710.3 + 4 966 c.734T>C c.(733-735)gTg>gCg p.V245A RET_ENST00000340058.5_Missense_Mutation_p.V245A NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 245 Cadherin. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GTGTGCACCGTGCACGCCGGC 0.731000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 4 34 0 0 1 0 0 CREG1 8804 broad.mit.edu 37 1 167517352 167517352 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:167517352G>A ENST00000370509.4 - 2 386 c.361C>T c.(361-363)Cca>Tca p.P121S NM_003851.2 NP_003842.1 O75629 CREG1_HUMAN cellular repressor of E1A-stimulated genes 1 121 cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter extracellular region FMN binding|transcription corepressor activity GTAGCATATGGATTCTCCTAT 0.398000 9 46 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143549 61143549 + RNA SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:61143549C>T ENST00000475015.1 - 0 789 C20orf166-AS1_ENST00000412495.1_RNA GTGCCACATTCTGAGCACAGA 0.642000 19 78 0 0 1 0 0 IRF9 10379 broad.mit.edu 37 14 24620550 24620550 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr14:24620550G>A ENST00000558468.1 + 1 124 c.124G>A c.(124-126)Gaa>Aaa p.E42K RNF31_ENST00000559275.1_Missense_Mutation_p.E416K|RNF31_ENST00000324103.6_Missense_Mutation_p.E567K|RNF31_ENST00000382687.3_Missense_Mutation_p.E416K CAACCTTGATGAAGCTGTGGA 0.592000 19 44 0 0 1 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217258 26217258 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr6:26217258C>T ENST00000303910.2 + 1 94 c.56C>T c.(55-57)tCt>tTt p.S19F NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 19 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) AAAACGCGTTCTTCCAGGGCC 0.557000 20 34 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102949 168102949 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:168102949G>A ENST00000409195.1 + 9 5136 c.5047G>A c.(5047-5049)Gaa>Aaa p.E1683K XIRP2_ENST00000409273.1_Missense_Mutation_p.E1461K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1683K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1508 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCAGGAAGATGAAAAAGGAGA 0.348000 7 32 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255136 140255136 + Missense_Mutation SNP G G T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:140255136G>T ENST00000398631.2 + 1 79 c.79G>T c.(79-81)Ggg>Tgg p.G27W PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGGAGGTGGGGAGCGGCCA 0.637000 12 50 2.80697e-09 3.07506e-09 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50468250 50468250 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr7:50468250C>T ENST00000331340.3 + 8 1640 c.1485C>T c.(1483-1485)tgC>tgT p.C495C IKZF1_ENST00000343574.5_Silent_p.C408C|IKZF1_ENST00000359197.5_Silent_p.C453C|IKZF1_ENST00000438033.1_Silent_p.C408C|IKZF1_ENST00000357364.4_Silent_p.C408C|IKZF1_ENST00000349824.4_Silent_p.C352C|IKZF1_ENST00000346667.4_Silent_p.C265C|IKZF1_ENST00000439701.1_Silent_p.C453C|IKZF1_ENST00000440768.2_3'UTR NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 495 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCAACATGTGCGGCTACCACA 0.602000 """D,T""" BCL6 """ALL, DLBCL""" 10 28 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22839532 22839532 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:22839532C>T ENST00000404138.1 + 13 3088 c.2577C>T c.(2575-2577)acC>acT p.T859T ZBTB40_ENST00000375647.4_Silent_p.T859T|ZBTB40_ENST00000374651.4_Silent_p.T747T NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 859 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GCCTTCACACCGGGGACCGCC 0.572000 4 46 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976150 120976150 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:120976150G>C ENST00000273666.6 + 17 2073 c.1802G>C c.(1801-1803)gGa>gCa p.G601A STXBP5L_ENST00000492541.1_Missense_Mutation_p.G601A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G601A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G601A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G601A NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 601 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GCTAGTGAAGGAGTAACAAAG 0.403000 3 64 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43305512 43305512 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr6:43305512G>A ENST00000361428.2 - 10 6301 c.6224C>T c.(6223-6225)tCt>tTt p.S2075F ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2075 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GGTTTTGGGAGAATCTAACGG 0.438000 17 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179463357 179463357 + Missense_Mutation SNP T T G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:179463357T>G ENST00000589042.1 - 292 57211 c.56987A>C c.(56986-56988)aAa>aCa p.K18996T TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K10056T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K17355T|TTN_ENST00000460472.2_Missense_Mutation_p.K9931T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K10123T|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K16428T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17355 Fibronectin type-III 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTGTCACTTTGGGAAATGG 0.403000 7 20 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7099849 7099849 + Missense_Mutation SNP T T G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr17:7099849T>G ENST00000399510.2 - 12 2110 c.1258A>C c.(1258-1260)Att>Ctt p.I420L DLG4_ENST00000399506.2_Missense_Mutation_p.I377L|DLG4_ENST00000302955.6_Missense_Mutation_p.I374L NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 377 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TTCAGGGCAATGGCAGCCTGC 0.562000 7 55 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52715044 52715044 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr12:52715044G>A ENST00000293670.3 - 1 138 c.76C>T c.(76-78)Cgg>Tgg p.R26W NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 26 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CGGCTTGGCCGGGGCCCGCAG 0.662000 43 95 0 0 1 0 0 BACE1 23621 broad.mit.edu 37 11 117165945 117165945 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:117165945G>A ENST00000313005.6 - 3 929 c.469C>T c.(469-471)Cgt>Tgt p.R157C BACE1_ENST00000513780.1_Missense_Mutation_p.R157C|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C|BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 157 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) ATGTTGGCACGCACAGTGACG 0.592000 4 107 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111896264 111896264 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:111896264C>A ENST00000280346.6 + 1 727 c.68C>A c.(67-69)aCg>aAg p.T23K DLAT_ENST00000393051.1_Missense_Mutation_p.T23K NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 23 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) GCTCGGTGGACGGCCTTGCAG 0.667000 12 50 9.31168e-06 9.86836e-06 1 1 0 IL3RA 3563 broad.mit.edu 37 X 1499970 1499970 + Silent SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chrX:1499970C>A ENST00000331035.4 + 11 1384 c.1035C>A c.(1033-1035)atC>atA p.I345I IL3RA_ENST00000381469.2_Silent_p.I267I NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 345 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AAGACCCCATCGGTGACAGCT 0.567000 34 201 1.22384e-17 1.3956e-17 1 1 0 USP54 159195 broad.mit.edu 37 10 75283447 75283447 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr10:75283447C>T ENST00000339859.4 - 16 2356 c.2256G>A c.(2254-2256)gcG>gcA p.A752A USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Silent_p.A602A|USP54_ENST00000408019.1_Silent_p.A752A|USP54_ENST00000497106.1_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 752 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CCTGTTCCTGCGCCCTCCTGG 0.478000 50 123 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18923972 18923972 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chrX:18923972C>G ENST00000379942.4 - 26 3477 c.2812G>C c.(2812-2814)Gag>Cag p.E938Q NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 938 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TCAGAAGCCTCTTCTCCTAAA 0.468000 12 67 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81335683 81335683 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr7:81335683C>G ENST00000222390.5 - 15 1903 c.1677G>C c.(1675-1677)gaG>gaC p.E559D HGF_ENST00000457544.2_Missense_Mutation_p.E554D NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 559 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GTTTGCATTTCTCATCTCCTC 0.363000 26 75 0 0 1 0 0 CTC-435M10.3 0 broad.mit.edu 37 19 41884266 41884266 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:41884266G>A ENST00000540732.1 + 2 179 c.52G>A c.(52-54)Gaa>Aaa p.E18K TMEM91_ENST00000544232.1_Missense_Mutation_p.E18K|TMEM91_ENST00000436170.2_Missense_Mutation_p.E18K|TMEM91_ENST00000413014.2_Missense_Mutation_p.E18K|TMEM91_ENST00000542945.1_Missense_Mutation_p.E18K|TMEM91_ENST00000447302.2_Missense_Mutation_p.E18K|TMEM91_ENST00000539627.1_Missense_Mutation_p.E18K|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000604123.1_Missense_Mutation_p.E75K|TMEM91_ENST00000356385.4_Missense_Mutation_p.E18K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E18K|TMEM91_ENST00000392002.2_Missense_Mutation_p.E18K GGAGGGCACAGAATGTGAGAC 0.582000 75 69 0 0 1 0 0 MYOT 9499 broad.mit.edu 37 5 137211532 137211532 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:137211532C>T ENST00000239926.4 + 3 745 c.371C>T c.(370-372)tCa>tTa p.S124L MYOT_ENST00000421631.2_5'UTR|MYOT_ENST00000515645.1_Missense_Mutation_p.S9L|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_3'UTR NM_006790.2 NP_006781 Q9UBF9 MYOTI_HUMAN myotilin 124 Necessary for interaction with ACTN1. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAACAGTCCTCAGCTGGCCAA 0.368000 10 45 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151090536 151090536 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:151090536G>A ENST00000474524.1 + 25 3779 c.3741G>A c.(3739-3741)ctG>ctA p.L1247L P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.L1107L NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1247 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GATATGTACTGAGGACTATCT 0.363000 21 45 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616249 92616249 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:92616249C>T ENST00000298047.6 + 23 12644 c.12627C>T c.(12625-12627)ttC>ttT p.F4209F FAT3_ENST00000409404.2_Silent_p.F4209F|FAT3_ENST00000525166.1_Silent_p.F4059F|FAT3_ENST00000533797.1_Silent_p.F544F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4209 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCATCCCGTTCCGGAACCTGC 0.652000 TCGA Ovarian(4;0.039) 32 96 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80732049 80732049 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr6:80732049G>C ENST00000509894.1 + 11 1946 c.1117G>C c.(1117-1119)Gag>Cag p.E373Q TTK_ENST00000369798.2_Missense_Mutation_p.E373Q|TTK_ENST00000515751.1_3'UTR|TTK_ENST00000230510.3_Missense_Mutation_p.E373Q P33981 TTK_HUMAN TTK protein kinase 373 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AGAAACTAAAGAGTATCAAGA 0.328000 24 45 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62153735 62153735 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:62153735C>T ENST00000474889.1 + 8 1308 c.931C>T c.(931-933)Cgt>Tgt p.R311C PTPRG_ENST00000295874.10_Missense_Mutation_p.R311C NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 311 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ACCACAGCAGCGTCTGCATGA 0.512000 11 65 0 0 1 0 0 NDUFS8 4728 broad.mit.edu 37 11 67803985 67803985 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:67803985G>A ENST00000313468.5 + 7 665 c.558G>A c.(556-558)gaG>gaA p.E186E NDUFS8_ENST00000528492.1_Silent_p.E40E NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 186 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|lung(5)|skin(1) 8 NADH(DB00157) ACAACAAGGAGAAGTTGCTCA 0.617000 7 34 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58197374 58197374 + Missense_Mutation SNP C C T rs143313987 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr12:58197374C>T ENST00000537081.1 - 14 1728 c.1729G>A c.(1729-1731)Gag>Aag p.E577K AVIL_ENST00000550083.1_Intron|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.E584K O75366 AVIL_HUMAN advillin 584 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) TCCTGGCCCTCGGCCACAGTG 0.602000 OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 29 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53994668 53994668 + Missense_Mutation SNP G G T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:53994668G>T ENST00000396403.4 + 4 1310 c.1182G>T c.(1180-1182)caG>caT p.Q394H ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q394Q(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CCTTCAGTCAGGAGTTAACCC 0.418000 14 135 1.05317e-09 1.16686e-09 1 1 0 KDR 3791 broad.mit.edu 37 4 55987280 55987280 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr4:55987280G>C ENST00000263923.4 - 2 440 c.145C>G c.(145-147)Ctt>Gtt p.L49V NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 49 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GTAATTTGAAGAGTTGTATTA 0.328000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 13 25 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197118738 197118738 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:197118738C>T ENST00000260983.3 - 19 3617 c.3435G>A c.(3433-3435)gaG>gaA p.E1145E HECW2_ENST00000409111.1_Silent_p.E789E NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 ACGACATTATCTCTTCTTCAA 0.493000 13 69 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38876452 38876452 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:38876452G>C ENST00000274276.3 + 3 625 c.223G>C c.(223-225)Gaa>Caa p.E75Q OSMR_ENST00000502536.1_Missense_Mutation_p.E75Q NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 75 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CAGTAGGATTGAAACATCCAA 0.343000 10 16 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186507765 186507765 + Missense_Mutation SNP T T C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:186507765T>C ENST00000392481.2 - 11 1366 c.1085A>G c.(1084-1086)aAt>aGt p.N362S RFC4_ENST00000433496.1_Missense_Mutation_p.N335S|RFC4_ENST00000296273.2_Missense_Mutation_p.N362S NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 362 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) ACGTTAACAATTCTGAGATAA 0.348000 7 19 0 0 1 0 0 SPRED3 399473 broad.mit.edu 37 19 38886205 38886205 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:38886205G>A ENST00000587013.1 + 5 863 c.785G>A c.(784-786)cGc>cAc p.R262H SPRED3_ENST00000586301.1_Missense_Mutation_p.R218H|SPRED3_ENST00000338502.4_Missense_Mutation_p.R218H Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 218 Pro-rich. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGGGGCGGCCGCGGCTACGAG 0.731000 8 13 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 476462 476462 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:476462G>A ENST00000264938.3 - 13 1931 c.1922C>T c.(1921-1923)aCg>aTg p.T641M CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.T632M|CTD-2228K2.7_ENST00000607286.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 641 Interaction with PDZD3 (By similarity). cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CTCCGTGGGCGTGAGCTCGTG 0.622000 4 91 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50471831 50471831 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:50471831C>A ENST00000435965.1 - 3 491 c.318G>T c.(316-318)gaG>gaT p.E106D CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E37D|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E106D|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E106D|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E106D|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E106D|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E106D|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E106D|CACNA2D2_ENST00000487413.1_5'UTR Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 106 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TCTCCTGTACCTCGAACAGGT 0.567000 38 73 2.20474e-14 2.48511e-14 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53602723 53602723 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chrX:53602723C>T ENST00000342160.3 - 44 6367 c.5910G>A c.(5908-5910)ggG>ggA p.G1970G HUWE1_ENST00000262854.6_Silent_p.G1970G Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1970 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GGGTCATAACCCCAGGTTTAG 0.438000 10 30 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145625558 145625558 + Splice_Site SNP A A G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr8:145625558A>G ENST00000349769.3 - 9 1032 c.e9+1 MIR1234_ENST00000408875.1_RNA NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCCCACACTCACGAAGCGGGA 0.682000 7 4 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97339519 97339519 + Missense_Mutation SNP C C T rs78657464 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr12:97339519C>T ENST00000266742.4 + 14 2042 c.1703C>T c.(1702-1704)tCa>tTa p.S568L NEDD1_ENST00000429527.2_Missense_Mutation_p.S568L|NEDD1_ENST00000411739.2_Missense_Mutation_p.S479L|NEDD1_ENST00000457368.2_Missense_Mutation_p.S479L|NEDD1_ENST00000557644.1_Missense_Mutation_p.S575L NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 568 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 AGTTCACTCTCAGAAAAAATA 0.368000 7 42 0 0 1 0 0 SPDYA 245711 broad.mit.edu 37 2 29045273 29045273 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:29045273C>T ENST00000334056.5 + 5 566 c.377C>T c.(376-378)gCt>gTt p.A126V SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.A126V NM_182756.3 NP_877433.2 Q5MJ70 SPDYA_HUMAN speedy/RINGO cell cycle regulator family member A 126 Speedy/Ringo box; Required for CDK- binding (By similarity). G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) TTCTTTATTGCTCTGTAAGTA 0.274000 3 12 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6432092 6432092 + Missense_Mutation SNP C C A rs145320037 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:6432092C>A ENST00000389906.2 - 2 585 c.486G>T c.(484-486)gaG>gaT p.E162D APBB1_ENST00000609360.1_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) catcatcatcctcctcctcct 0.637000 3 43 0.004672 0.00476984 1 1 0 BIRC6 57448 broad.mit.edu 37 2 32832677 32832677 + Silent SNP A A G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:32832677A>G ENST00000421745.2 + 72 14360 c.14226A>G c.(14224-14226)gaA>gaG p.E4742E NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4742 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CAATGCTAGAACAAATCAGAA 0.403000 11 47 0 0 1 0 0 LOC654342 654342 broad.mit.edu 37 2 91843454 91843454 + RNA SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:91843454C>A ENST00000609777.1 - 0 138 CCCACCAACTCTTGGTACTGG 0.617000 22 77 2.27731e-05 2.37473e-05 1 1 0 CEP63 80254 broad.mit.edu 37 3 134256013 134256013 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:134256013C>T ENST00000337090.3 + 6 631 c.458C>T c.(457-459)tCg>tTg p.S153L CEP63_ENST00000606977.1_Missense_Mutation_p.S153L|CEP63_ENST00000354446.3_Missense_Mutation_p.S153L|CEP63_ENST00000383229.3_Missense_Mutation_p.S153L|CEP63_ENST00000513612.2_Missense_Mutation_p.S153L|CEP63_ENST00000332047.5_Missense_Mutation_p.S153L Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 153 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding p.S153L(1) kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CGTCAGAAATCGCTGGACTGG 0.438000 18 57 0 0 1 0 0 RDX 5962 broad.mit.edu 37 11 110104203 110104203 + Splice_Site SNP G G T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:110104203G>T ENST00000343115.4 - 13 1665 c.1346C>A c.(1345-1347)gCt>gAt p.A449D RDX_ENST00000405097.1_Splice_Site_p.A449D|RDX_ENST00000544551.1_Splice_Site_p.A313D|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Splice_Site_p.A102D|RDX_ENST00000528498.1_Splice_Site_p.A449D NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 449 Glu-rich. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GGCTGCAAAAGCCTGAACATT 0.383000 5 44 0.0215528 0.0216639 1 1 0 TPPP 11076 broad.mit.edu 37 5 666141 666141 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:666141C>T ENST00000360578.5 - 3 530 c.409G>A c.(409-411)Gtt>Att p.V137I CEP72_ENST00000514507.1_3'UTR NM_007030.2 NP_008961.1 O94811 TPPP_HUMAN tubulin polymerization promoting protein 137 microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) ACCTCGCGAACGGCCTCCTCG 0.642000 22 96 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147183135 147183135 + Splice_Site SNP T T C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr7:147183135T>C ENST00000361727.3 + 11 2293 c.e11+2 NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCCACAACTGTGAGTGCCAAT 0.443000 HNSCC(39;0.1) 5 27 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196210763 196210763 + Splice_Site SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:196210763C>G ENST00000318037.3 - 4 1153 c.e4-1 NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) AGAAATTGTTCTTCAACAATA 0.323000 29 77 0 0 1 0 0 RGN 9104 broad.mit.edu 37 X 46951124 46951124 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chrX:46951124G>A ENST00000397180.1 + 6 1579 c.610G>A c.(610-612)Gat>Aat p.D204N RGN_ENST00000336169.3_Missense_Mutation_p.D204N|RGN_ENST00000457380.1_Missense_Mutation_p.D132N|RGN_ENST00000352078.4_Missense_Mutation_p.D204N NM_152869.2 NP_690608.1 Q15493 RGN_HUMAN regucalcin 204 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 9 ACAAATCCCAGATGGAATGTG 0.448000 18 57 0 0 1 0 0 CD74 972 broad.mit.edu 37 5 149782802 149782802 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:149782802G>A ENST00000009530.7 - 7 700 c.699C>T c.(697-699)gaC>gaT p.D233D CD74_ENST00000353334.6_Intron|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 233 Thyroglobulin type-1. antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCGTTCTCGTCGCACTTGG 0.597000 T ROS1 NSCLC 6 168 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201751889 201751889 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:201751889C>T ENST00000367296.4 + 6 2669 c.2249C>T c.(2248-2250)tCa>tTa p.S750L NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.S750L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.S750L|NAV1_ENST00000367302.1_Missense_Mutation_p.S763L|NAV1_ENST00000295624.6_Missense_Mutation_p.S750L|NAV1_ENST00000367295.1_Missense_Mutation_p.S359L NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 750 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GCCTTGGACTCAGACAACATC 0.572000 7 65 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071867 134071867 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr4:134071867G>C ENST00000264360.5 + 1 1398 c.572G>C c.(571-573)cGa>cCa p.R191P NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CCACTGGACCGAGAGCAGCAA 0.657000 11 62 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145562608 145562608 + Nonsense_Mutation SNP G G T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:145562608G>T ENST00000355594.4 + 10 2383 c.2296G>T c.(2296-2298)Gag>Tag p.E766* NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 766 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCCGTGTAGGGAGCCAGGCAC 0.652000 7 10 0.0293803 0.0293803 1 1 0 CLCN2 1181 broad.mit.edu 37 3 184075768 184075768 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:184075768C>T ENST00000265593.4 - 5 768 c.597G>A c.(595-597)ggG>ggA p.G199G CLCN2_ENST00000434054.2_Silent_p.G155G|CLCN2_ENST00000457512.1_Silent_p.G199G|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.G199G NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 199 G -> A (no effect). chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) CAAGCGGCATCCCGCTGCCTA 0.592000 17 41 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817573 4817573 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:4817573G>C ENST00000248244.5 - 2 1046 c.817C>G c.(817-819)Cct>Gct p.P273A NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 273 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGAAGCCCAGGAGGTGGGCTG 0.667000 17 28 0 0 1 0 0 VGF 7425 broad.mit.edu 37 7 100806828 100806828 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr7:100806828C>G ENST00000249330.2 - 2 1536 c.1297G>C c.(1297-1299)Gag>Cag p.E433Q VGF_ENST00000445482.2_Missense_Mutation_p.E433Q NM_003378.3 NP_003369.2 O15240 VGF_HUMAN VGF nerve growth factor inducible 433 Asp/Glu-rich (acidic). response to cAMP extracellular space|transport vesicle growth factor activity cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 9 Lung NSC(181;0.168)|all_lung(186;0.215) tctgtcccctcggcctccttc 0.687000 3 14 0 0 1 0 0 HIST1H2AJ 8331 broad.mit.edu 37 6 27782430 27782430 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr6:27782430C>T ENST00000333151.3 - 1 177 c.89G>A c.(88-90)cGa>cAa p.R30Q NM_021066.2 NP_066544.1 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 30 nucleosome assembly nucleosome|nucleus DNA binding p.R30Q(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 11 GCGATGCACTCGGCCTACGGG 0.652000 23 41 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71166025 71166025 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr17:71166025G>A ENST00000357585.2 + 2 936 c.567G>A c.(565-567)ggG>ggA p.G189G SSTR2_ENST00000315332.2_Silent_p.G189G|RP11-143K11.5_ENST00000580671.1_RNA NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 189 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) ACCAGTGGGGGAGAAGCAGCT 0.562000 7 71 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49190754 49190754 + Nonsense_Mutation SNP G G T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:49190754G>T ENST00000406846.2 - 10 1325 c.1206C>A c.(1204-1206)tgC>tgA p.C402* FSHR_ENST00000346173.3_Nonsense_Mutation_p.C340*|FSHR_ENST00000541117.1_Nonsense_Mutation_p.C138*|FSHR_ENST00000304421.4_Nonsense_Mutation_p.C376* NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 402 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGGCCAGGTTGCACATAAGGA 0.448000 Gonadal Dysgenesis, 46 XX 30 59 5.52252e-06 5.88465e-06 1 1 0 STIP1 10963 broad.mit.edu 37 11 63962054 63962054 + Silent SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:63962054G>C ENST00000358794.5 + 4 1159 c.606G>C c.(604-606)ctG>ctC p.L202L STIP1_ENST00000305218.4_Silent_p.L155L|STIP1_ENST00000543847.1_Silent_p.L155L|STIP1_ENST00000538945.1_Silent_p.L131L|STIP1_ENST00000540501.1_3'UTR NM_001282652.1 NP_001269581.1 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 155 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 ACCGGGAGCTGATAGAGCAGC 0.483000 16 34 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408525 2408525 + Silent SNP C C T rs141252745 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:2408525C>T ENST00000332578.3 + 7 912 c.912C>T c.(910-912)ttC>ttT p.F304F NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 304 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTGCCTTTCGGCCGGCACA 0.642000 39 92 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817244 4817244 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:4817244G>C ENST00000248244.5 - 2 1375 c.1146C>G c.(1144-1146)ttC>ttG p.F382L NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 382 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGGAGGAAGGGAACAGGGAGG 0.572000 18 29 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45442 45442 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:45442C>T ENST00000327669.4 - 1 943 c.944G>A c.(943-945)cGa>cAa p.R315Q NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 315 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) GCACACACCTCGGGTCCGGCT 0.632000 17 52 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145156270 145156270 + Missense_Mutation SNP T T G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:145156270T>G ENST00000558170.2 - 8 3668 c.2484A>C c.(2482-2484)aaA>aaC p.K828N ZEB2_ENST00000539609.3_Missense_Mutation_p.K804N|ZEB2_ENST00000409487.3_Missense_Mutation_p.K828N|ZEB2_ENST00000303660.4_Missense_Mutation_p.K828N NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 828 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CTATAATACTTTTGGGTTCTT 0.398000 14 70 0 0 1 0 0 PSMC5 5705 broad.mit.edu 37 17 61908904 61908904 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr17:61908904G>A ENST00000310144.6 + 10 1316 c.1008G>A c.(1006-1008)atG>atA p.M336I PSMC5_ENST00000581882.1_Missense_Mutation_p.M328I|PSMC5_ENST00000580864.1_Missense_Mutation_p.M328I|PSMC5_ENST00000375812.4_Missense_Mutation_p.M328I NM_002805.5 NP_002796.4 P62195 PRS8_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 5 336 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 CTCGGAAGATGAACCTGACCC 0.547000 25 91 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660869 77660869 + Missense_Mutation SNP G G C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr4:77660869G>C ENST00000296043.6 + 5 2496 c.1543G>C c.(1543-1545)Gat>Cat p.D515H NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 515 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGCTACCATTGATGAGAATGG 0.532000 39 105 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10395175 10395175 + Missense_Mutation SNP C C T rs141326678 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:10395175C>T ENST00000264832.3 + 5 1347 c.1022C>T c.(1021-1023)aCg>aTg p.T341M CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.T119M NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 341 Ig-like C2-type 4. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) GCCAAGGTGACGCTGAATGGG 0.642000 29 95 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65942319 65942319 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr17:65942319G>A ENST00000321892.4 + 23 7934 c.7873G>A c.(7873-7875)Gag>Aag p.E2625K BPTF_ENST00000424123.3_Intron|BPTF_ENST00000306378.6_Missense_Mutation_p.E2499K|BPTF_ENST00000335221.5_Intron Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2625 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGTGTGCAAGAGCAGTTGCA 0.458000 20 77 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4516678 4516678 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:4516678G>A ENST00000301286.3 - 2 163 c.164C>T c.(163-165)cCa>cTa p.P55L NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 55 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CGTCTGCTCTGGGTGGGCAGC 0.632000 5 12 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765819 18765819 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr2:18765819C>T ENST00000304081.4 - 4 784 c.684G>A c.(682-684)tcG>tcA p.S228S NT5C1B_ENST00000600945.1_Silent_p.S288S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S288S|NT5C1B_ENST00000359846.2_Silent_p.S288S NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TCTCGTAGAACGACCTCATGG 0.692000 5 21 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42788265 42788265 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr20:42788265C>T ENST00000372980.3 - 2 2034 c.1162G>A c.(1162-1164)Gcc>Acc p.A388T NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 388 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TACCTGGAGGCGGCAATCTCG 0.677000 10 23 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44423762 44423762 + Missense_Mutation SNP A A C TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr19:44423762A>C ENST00000269973.5 - 8 1195 c.105T>G c.(103-105)gaT>gaG p.D35E ZNF45_ENST00000589703.1_Missense_Mutation_p.D35E|RP11-15A1.2_ENST00000586247.1_RNA NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 35 KRAB. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 CCAGCATCACATCTCGGTACA 0.527000 24 217 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117840333 117840333 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr9:117840333C>T ENST00000350763.4 - 7 2974 c.2563G>A c.(2563-2565)Gag>Aag p.E855K TNC_ENST00000542877.1_Missense_Mutation_p.E855K|TNC_ENST00000340094.3_Missense_Mutation_p.E855K|TNC_ENST00000535648.1_Missense_Mutation_p.E855K|TNC_ENST00000537320.1_Missense_Mutation_p.E855K|TNC_ENST00000345230.3_Missense_Mutation_p.E855K|TNC_ENST00000341037.4_Missense_Mutation_p.E855K|TNC_ENST00000423613.2_Missense_Mutation_p.E855K|TNC_ENST00000346706.3_Missense_Mutation_p.E855K NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 855 Fibronectin type-III 3. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TACTGGTTCTCGTCCTCTGTG 0.562000 20 24 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33249376 33249376 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr3:33249376C>G ENST00000309558.3 - 3 750 c.333G>C c.(331-333)atG>atC p.M111I NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 111 Link. cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CGACAGCTCTCATGATTTGCT 0.423000 6 56 0 0 1 0 0 C1orf159 54991 broad.mit.edu 37 1 1019691 1019691 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:1019691G>A ENST00000448924.1 - 10 1083 c.652C>T c.(652-654)Ctg>Ttg p.L218L C1orf159_ENST00000379339.1_Silent_p.L218L|C1orf159_ENST00000294576.5_Silent_p.L182L|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_Silent_p.L182L Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 218 integral to membrane 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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GACTGGCCCAGAGATGGGAAA 0.627000 14 41 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18154205 18154205 + Missense_Mutation SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr17:18154205C>G ENST00000327031.4 - 14 1948 c.1723G>C c.(1723-1725)Gag>Cag p.E575Q FLII_ENST00000579294.1_Missense_Mutation_p.E564Q|FLII_ENST00000379450.4_Missense_Mutation_p.E489Q|FLII_ENST00000578558.1_Missense_Mutation_p.E574Q|FLII_ENST00000545457.2_Missense_Mutation_p.E520Q NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 575 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GTGCGGCACTCAGCACCCAGG 0.602000 42 71 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322409 55322409 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr11:55322409C>T ENST00000314644.2 + 1 627 c.627C>T c.(625-627)tcC>tcT p.S209S NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TCTTGCATTCCATGATACAAA 0.478000 HNSCC(20;0.049) 17 62 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123258070 123258070 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr10:123258070C>T ENST00000358487.5 - 12 1883 c.1611G>A c.(1609-1611)atG>atA p.M537I FGFR2_ENST00000360144.3_Missense_Mutation_p.M449I|FGFR2_ENST00000369060.4_Missense_Mutation_p.M421I|FGFR2_ENST00000346997.2_Missense_Mutation_p.M535I|FGFR2_ENST00000369061.4_Missense_Mutation_p.M425I|FGFR2_ENST00000369059.1_Missense_Mutation_p.M423I|FGFR2_ENST00000351936.6_Missense_Mutation_p.M535I|FGFR2_ENST00000478859.1_Missense_Mutation_p.M309I|FGFR2_ENST00000457416.2_Missense_Mutation_p.M538I|FGFR2_ENST00000356226.4_Missense_Mutation_p.M420I|FGFR2_ENST00000369056.1_Missense_Mutation_p.M538I|FGFR2_ENST00000357555.5_Missense_Mutation_p.M448I NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 537 Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.M448I(1)|p.M535I(1)|p.M537I(1)|p.M538I(1) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TCATCTTCATCATCTCCATCT 0.418000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 12 46 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38072071 38072071 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr21:38072071G>A ENST00000290399.6 + 1 638 c.25G>A c.(25-27)Gcc>Acc p.A9T AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000430056.3_Missense_Mutation_p.A9T|SIM2_ENST00000460783.1_3'UTR NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 9 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 CAAGAATGCGGCCAAGACCAG 0.652000 4 45 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179290809 179290809 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr5:179290809C>T ENST00000356834.3 - 22 3429 c.3392G>A c.(3391-3393)gGc>gAc p.G1131D TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.G272D|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.G290D|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.G1114D NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1131 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCGCCGCTGCCCCCCTCCAC 0.642000 4 106 0 0 1 0 0 PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcggag>gcg p.E35del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 35 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 8 339 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)cagdel p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 9 249 --- --- --- --- TMEM229A 730130 broad.mit.edu 37 7 123672457 123672459 + In_Frame_Del DEL GCT GCT - rs72310362 TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr7:123672457_123672459delGCT ENST00000455783.1 - 1 1064_1066 c.599_601delAGC c.(598-603)cagcgg>cgg p.Q200del RP5-921G16.1_ENST00000484322.1_RNA NM_001136002.1 NP_001129474.1 B2RXF0 T229A_HUMAN transmembrane protein 229A 200 host cell nucleus|integral to membrane sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(3) 6 GCGCCCCTCCgctgctgctgctg 0.754 2 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 4 9 --- --- --- --- ANKRD20A18P 391269 broad.mit.edu 37 21 15436915 15436915 + RNA DEL G G - TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ebebc76-bf34-434d-9431-083319f71255 44546828-fa6f-4fcc-931e-b58ffd5e0d0e g.chr21:15436915delG ENST00000428809.1 + 0 177 AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000448463.1_RNA CCCCTGGGACGGGGGCCTTGG 0.687 3 4 --- --- --- ---