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 SIGLEC16 400709 broad.mit.edu 37 19 50474929 50474929 + RNA SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:50474929C>A ENST00000602139.1 + 0 1004 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TTCAGATCCTCCAGAGAACCT 0.587000 26 41 4.59853e-10 4.86214e-10 1 1 0 ERBB3 2065 broad.mit.edu 37 12 56495462 56495462 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:56495462G>A ENST00000267101.3 + 28 4092 c.3652G>A c.(3652-3654)Gag>Aag p.E1218K RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_Missense_Mutation_p.E338K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E575K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1159K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E459K NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1218 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AAGTTCCCTTGAGGAGCTGGG 0.542000 24 49 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73489054 73489054 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:73489054C>T ENST00000314256.7 + 16 2351 c.1957C>T c.(1957-1959)Ctg>Ttg p.L653L KIAA0195_ENST00000375248.5_Silent_p.L663L|KIAA0195_ENST00000579208.1_Silent_p.L304L NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 653 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGAGAACCATCTGGCGCTGTA 0.627000 27 89 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125555862 125555862 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr2:125555862C>T ENST00000431078.1 + 19 3543 c.3179C>T c.(3178-3180)tCt>tTt p.S1060F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1060 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AATTCTTCTTCTCAGGACTTC 0.498000 14 25 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72831616 72831616 + Silent SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr16:72831616C>G ENST00000268489.5 - 9 5637 c.4965G>C c.(4963-4965)gtG>gtC p.V1655V ZFHX3_ENST00000397992.5_Silent_p.V741V NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1655 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CACTGGTGCTCACAGGACTTG 0.562000 10 70 0 0 1 0 0 E2F2 1870 broad.mit.edu 37 1 23848400 23848400 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:23848400G>A ENST00000361729.2 - 3 933 c.507C>T c.(505-507)atC>atT p.I169I NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 169 Leucine-zipper. G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) TGATGTCATAGATGCGCCGCT 0.582000 10 43 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912774 77912774 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chrX:77912774G>A ENST00000321110.1 - 2 1439 c.1144C>T c.(1144-1146)Cta>Tta p.L382L NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 382 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 AGATCAGATAGGTTGGTGGCT 0.493000 6 51 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1220629 1220629 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:1220629C>T ENST00000326873.7 + 5 1820 c.647C>T c.(646-648)tCc>tTc p.S216F NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 216 Protein kinase. S -> F (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.S216F(3)|p.?(2) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCAGGGCTCCCCGGCTTTC 0.711000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 4 7 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82643010 82643010 + Silent SNP A A G rs140996530 TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:82643010A>G ENST00000533655.1 + 6 842 c.630A>G c.(628-630)tcA>tcG p.S210S C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.S210S|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000528759.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 210 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TAGATCACTCAAATAGTGATC 0.383000 57 85 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224947 42224947 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:42224947C>G ENST00000221992.6 + 8 1991 c.1877C>G c.(1876-1878)tCt>tGt p.S626C CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S625C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S626C NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 626 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCGCAGTATTCTTGGCGTATC 0.522000 60 65 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255643 140255643 + Missense_Mutation SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr5:140255643C>A ENST00000398631.2 + 1 586 c.586C>A c.(586-588)Ctt>Att p.L196I PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.1 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) TGAATTAGTTCTTCGGAAGTT 0.363000 31 26 8.58068e-18 9.37101e-18 1 1 0 ZNF33B 7582 broad.mit.edu 37 10 43088981 43088981 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr10:43088981C>G ENST00000359467.3 - 5 1531 c.1417G>C c.(1417-1419)Gag>Cag p.E473Q ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 473 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E473*(1)|p.E473Q(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TTCCCACACTCAAGACATTCA 0.378000 43 59 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183226083 183226083 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:183226083C>T ENST00000341319.3 - 3 708 c.673G>A c.(673-675)Gat>Aat p.D225N NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 225 BACK. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) taaaggtcatcactcttcaag 0.507000 5 64 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049106 70049106 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:70049106C>G ENST00000330891.5 - 10 1814 c.1588G>C c.(1588-1590)Gag>Cag p.E530Q BEST3_ENST00000553096.1_Missense_Mutation_p.E424Q|BEST3_ENST00000488961.1_Missense_Mutation_p.E317Q|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 530 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CCTGTAAACTCAGAGCTCAAG 0.577000 55 118 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7807240 7807240 + Silent SNP C C T rs61744840 byFrequency TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:7807240C>T ENST00000380358.4 + 24 4003 c.4002C>T c.(4000-4002)gaC>gaT p.D1334D CHD3_ENST00000358181.4_Silent_p.D1275D|CHD3_ENST00000330494.7_Silent_p.D1275D NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1275 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AGGACACTGACGTGCAGAACA 0.527000 5 62 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22853733 22853733 + Splice_Site SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr15:22853733G>A ENST00000283645.4 + 12 1501 c.e12-1 TUBGCP5_ENST00000453949.2_Splice_Site|TUBGCP5_ENST00000559846.1_3'UTR NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CTCTGCCTCAGGTCTCCCTCC 0.547000 7 11 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2120500 2120500 + Missense_Mutation SNP A A G rs137854371 TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr16:2120500A>G ENST00000219476.3 + 17 2390 c.1760A>G c.(1759-1761)tAt>tGt p.Y587C TSC2_ENST00000439673.2_Missense_Mutation_p.Y550C|TSC2_ENST00000382538.6_Missense_Mutation_p.Y538C|TSC2_ENST00000401874.2_Missense_Mutation_p.Y587C|TSC2_ENST00000568454.1_Missense_Mutation_p.Y598C|TSC2_ENST00000353929.4_Missense_Mutation_p.Y587C|TSC2_ENST00000350773.4_Missense_Mutation_p.Y587C NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 587 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) ACGCGTGTGTATGAGATGCTG 0.602000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 7 43 0 0 1 0 0 ALKBH6 84964 broad.mit.edu 37 19 36503936 36503936 + Missense_Mutation SNP T T C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:36503936T>C ENST00000378875.3 - 3 199 c.194A>G c.(193-195)tAt>tGt p.Y65C ALKBH6_ENST00000252984.7_Missense_Mutation_p.Y37C|ALKBH6_ENST00000495116.2_5'UTR|ALKBH6_ENST00000486389.1_Intron|ALKBH6_ENST00000485128.1_Missense_Mutation_p.Y37C|AC002116.8_ENST00000473572.2_RNA NM_032878.3|NM_198867.1 NP_116267.3|NP_942567.1 Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 (E. coli) 37 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 9 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCGAAGCAAATACTCCTCCTC 0.517000 46 72 0 0 1 0 0 ALDH3B1 221 broad.mit.edu 37 11 67789255 67789255 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:67789255G>A ENST00000539229.1 + 8 977 c.861G>A c.(859-861)caG>caA p.Q287Q ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Silent_p.Q251Q|ALDH3B1_ENST00000007633.8_Silent_p.Q287Q NM_001161473.1 NP_001154945.1 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 288 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) TCATCAACCAGAAACAGTTCC 0.637000 17 116 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212272 131212272 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chrX:131212272C>T ENST00000298542.4 - 12 1948 c.1773G>A c.(1771-1773)caG>caA p.Q591Q FRMD7_ENST00000464296.1_Silent_p.Q576Q|FRMD7_ENST00000370879.1_Silent_p.Q471Q NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 591 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CTGATTGGCTCTGGGACCTTT 0.433000 5 73 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr6:32155509T>A ENST00000375050.4 - 5 1055 c.785A>T c.(784-786)tAt>tTt p.Y262F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 transcription factor binding p.Y262F(3) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGTAGAAATACTCATTTAG 0.517000 3 17 0 0 1 0 0 ALDOA 226 broad.mit.edu 37 16 30081367 30081367 + Missense_Mutation SNP G G T rs2071390 by1000genomes TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr16:30081367G>T ENST00000569798.1 + 8 1193 c.1016G>T c.(1015-1017)aGg>aTg p.R339M ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000566897.1_Intron P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 0 C -> Y (in GSD12). actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 ATAGGCAGGAGGTGGGCAGGG 0.617000 3 20 1 1 1 1 0 ZNF767 79970 broad.mit.edu 37 7 149318371 149318371 + RNA SNP T T C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr7:149318371T>C ENST00000463567.1 - 0 465 NR_027788.1 zinc finger family member 767 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) TCCCCCTTGCTGCCCGGGGGC 0.677000 42 93 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44177200 44177200 + Silent SNP A A G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr4:44177200A>G ENST00000360029.3 - 2 1312 c.1029T>C c.(1027-1029)gaT>gaC p.D343D NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 343 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CACTTCCTTTATCAGTGACTT 0.438000 HNSCC(17;0.042) 19 60 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121768910 121768910 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr6:121768910G>A ENST00000282561.3 + 2 1074 c.917G>A c.(916-918)aGt>aAt p.S306N NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 306 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) AAGCAAGCAAGTGAGCAAAAC 0.502000 23 115 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 87 0 0 1 0 0 CIDECP 152302 broad.mit.edu 37 3 10067794 10067794 + RNA SNP A A G rs35993975 by1000genomes TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:10067794A>G ENST00000432401.1 - 0 247 GTGGCGGATCATGTCTACGAA 0.557000 3 28 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37584323 37584323 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr21:37584323C>T ENST00000399151.3 + 7 917 c.832C>T c.(832-834)Ctc>Ttc p.L278F DOPEY2_ENST00000492760.1_3'UTR NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 278 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CGTGCGCATTCTCTCAGCCGC 0.478000 16 56 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2643959 2643959 + Splice_Site SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr9:2643959C>T ENST00000382100.2 + 7 1422 c.1066_splice c.e7+1 p.H356_splice VLDLR_ENST00000382099.2_Splice_Site_p.H356_splice NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 356 EGF-like 1. cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) GAAAGAGTGTCGTAAGTGTAC 0.448000 18 24 0 0 1 0 0 CRY1 1407 broad.mit.edu 37 12 107391777 107391777 + Missense_Mutation SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:107391777C>A ENST00000008527.5 - 8 2072 c.1205G>T c.(1204-1206)tGt>tTt p.C402F NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 402 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 AAAGGAACTACAAGACAGCCA 0.388000 31 81 2.47511e-08 2.60043e-08 1 1 0 NUMA1 4926 broad.mit.edu 37 11 71726241 71726241 + Nonsense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:71726241G>A ENST00000393695.3 - 15 2639 c.2308C>T c.(2308-2310)Cga>Tga p.R770* NUMA1_ENST00000358965.6_Nonsense_Mutation_p.R770*|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 770 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TGCTGTAATCGAGCCTCCAGC 0.627000 T RARA APL 27 60 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117047683 117047683 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr6:117047683C>G ENST00000368564.1 + 12 1299 c.1151C>G c.(1150-1152)cCt>cGt p.P384R KPNA5_ENST00000356348.1_Missense_Mutation_p.P384R O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 381 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) AATATTTTTCCTGTTTTGATT 0.338000 15 27 0 0 1 0 0 C17orf58 284018 broad.mit.edu 37 17 65989227 65989227 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:65989227G>A ENST00000536693.1 - 1 441 c.36C>T c.(34-36)ttC>ttT p.F12F C17orf58_ENST00000449250.2_Silent_p.F12F|C17orf58_ENST00000334461.7_Silent_p.F12F Q2M2W7 CQ058_HUMAN chromosome 17 open reading frame 58 12 lung(2) 2 all_cancers(12;4.57e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) GGACTCGGAAGAAGAAGCCGT 0.577000 24 48 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402416 33402416 + Silent SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:33402416G>C ENST00000373456.7 - 9 2189 c.2190C>G c.(2188-2190)gcC>gcG p.A730A RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Silent_p.A729A NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 730 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTCATACTCTGGCTTCTCCAC 0.473000 12 132 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52946691 52946691 + Silent SNP G G T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:52946691G>T ENST00000267119.5 - 1 240 c.171C>A c.(169-171)ctC>ctA p.L57L NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 57 Gly-rich.|Head. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) TGGCCACATTGAGGCTCCGGA 0.662000 44 120 1.35964e-18 1.4947e-18 1 1 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:7577574T>C ENST00000420246.2 - 7 839 c.707A>G c.(706-708)tAc>tGc p.Y236C TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTACACATGTAGTTGTAGTG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 37 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196387429 196387429 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:196387429C>T ENST00000328557.4 + 3 1118 c.915C>T c.(913-915)ctC>ctT p.L305L NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species AGTTCCTCCTCGTGGACGGCA 0.607000 44 65 0 0 1 0 0 GATA4 2626 broad.mit.edu 37 8 11607683 11607683 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr8:11607683C>T ENST00000335135.4 + 4 1405 c.847C>T c.(847-849)Cgc>Tgc p.R283C GATA4_ENST00000528712.1_Missense_Mutation_p.R77C|GATA4_ENST00000532059.1_Missense_Mutation_p.R284C NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 283 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CACGCTGTGGCGCCGCAATGC 0.627000 8 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579020 179579020 + Splice_Site SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr2:179579020G>A ENST00000589042.1 - 91 26705 c.26482_splice c.e91+1 p.L8827_splice TTN_ENST00000591111.1_Splice_Site_p.L8510_splice|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.L7583_splice|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8510 Ig-like 71. 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) TTTACTAACCGAGAACGGATA 0.388000 14 106 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278152 7278152 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr7:7278152G>C ENST00000436587.2 + 3 710 c.487G>C c.(487-489)Gat>Cat p.D163H C1GALT1_ENST00000223122.2_Missense_Mutation_p.D163H|C1GALT1_ENST00000402468.3_Missense_Mutation_p.D163H NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 163 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) AGAAGATGCTGATTGGTTTTT 0.383000 19 30 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976991 119976991 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr9:119976991G>C ENST00000313400.4 - 3 761 c.661C>G c.(661-663)Ctg>Gtg p.L221V ASTN2_ENST00000373996.3_Missense_Mutation_p.L221V|ASTN2_ENST00000361209.2_Missense_Mutation_p.L221V|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GTGAACACCAGCAGCAGCAGC 0.602000 4 44 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65272803 65272803 + RNA SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:65272803C>A ENST00000534336.1 + 0 7571 NR_002819.2 GGACTTGCCTCAACTCCCTCT 0.443000 5 46 1.23904e-05 1.27752e-05 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3265645 3265645 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr8:3265645G>A ENST00000602557.1 - 15 2405 c.1850C>T c.(1849-1851)tCg>tTg p.S617L CSMD1_ENST00000539096.1_Missense_Mutation_p.S616L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S617L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S616L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S616L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S617L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S617L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 617 CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCTGGCTCCGAGATAATCAA 0.403000 6 35 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123776208 123776208 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr9:123776208C>T ENST00000223642.1 - 17 2229 c.2200G>A c.(2200-2202)Gtc>Atc p.V734I NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 734 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TGGCTTGCGACGACACAACAT 0.448000 8 96 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11097633 11097633 + RNA SNP A A G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr21:11097633A>G ENST00000470054.1 - 0 236 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ctgggcagacaatgccagaaa 0.567000 4 59 0 0 1 0 0 RRP1 8568 broad.mit.edu 37 21 45217310 45217310 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr21:45217310G>A ENST00000497547.1 + 6 547 c.430G>A c.(430-432)Gag>Aag p.E144K RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 144 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CAGACAGATCGAGGAGCTGCT 0.577000 7 20 0 0 1 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859601 31859601 + Nonsense_Mutation SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr21:31859601C>A ENST00000334055.3 - 1 154 c.67G>T c.(67-69)Gga>Tga p.G23* NM_181608.1 NP_853639.1 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 23 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TATCTGCATCCTTCATAGCCG 0.547000 30 133 1.39806e-14 1.49727e-14 1 1 0 GAD1 2571 broad.mit.edu 37 2 171713609 171713609 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr2:171713609G>A ENST00000358196.3 + 15 2045 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 499 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AAACAGAGAAGAATTTGAGAT 0.423000 20 82 0 0 1 0 0 CHM 1121 broad.mit.edu 37 X 85218783 85218783 + Missense_Mutation SNP T T C rs140566714 TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chrX:85218783T>C ENST00000357749.2 - 5 618 c.589A>G c.(589-591)Agt>Ggt p.S197G CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.S49G NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 197 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) ACATTTTCACTCATGTCTTCT 0.368000 4 37 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413884 178413884 + Silent SNP G G A rs149519053 byFrequency TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr5:178413884G>A ENST00000231188.5 - 7 1633 c.1455C>T c.(1453-1455)ggC>ggT p.G485G RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.G485G NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 485 detection of visible light|visual perception integral to plasma membrane p.G485G(1) NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CCTGGTACCCGCCACTGCTGG 0.647000 14 19 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179263610 179263610 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr5:179263610C>T ENST00000510187.1 + 7 1106 c.1090C>T c.(1090-1092)Ctt>Ttt p.L364F SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000360718.5_3'UTR|SQSTM1_ENST00000402874.3_3'UTR Q13501 SQSTM_HUMAN sequestosome 1 0 Interaction with NTRK1 (By similarity). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGCCCACCTCTTCTGCGTGC 0.542000 39 64 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164709969 164709969 + Missense_Mutation SNP T T C rs113739230 TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:164709969T>C ENST00000264382.3 - 43 5041 c.4979A>G c.(4978-4980)cAt>cGt p.H1660R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1660 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTTACTGTATGGTAGTCAAA 0.358000 HNSCC(35;0.089) 41 73 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107236557 107236557 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:107236557C>T ENST00000392837.4 + 5 1178 c.1027C>T c.(1027-1029)Cat>Tat p.H343Y RIC8B_ENST00000392839.2_Missense_Mutation_p.H343Y|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.H303Y Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 343 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 GGAGGCCATTCATGTTTTACT 0.368000 14 40 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32563294 32563294 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr14:32563294G>A ENST00000345122.3 + 2 3734 c.3419G>A c.(3418-3420)aGa>aAa p.R1140K ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R1140K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R1140K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R1140K|ARHGAP5_ENST00000433497.1_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1140 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTTTCTGATAGAACCTCAAAA 0.333000 17 29 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129168748 129168748 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:129168748C>G ENST00000296266.3 + 2 268 c.76C>G c.(76-78)Caa>Gaa p.Q26E IFT122_ENST00000349441.2_Missense_Mutation_p.Q26E|IFT122_ENST00000348417.2_Missense_Mutation_p.Q26E|IFT122_ENST00000347300.2_Missense_Mutation_p.Q26E|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.Q26E|IFT122_ENST00000507564.1_Missense_Mutation_p.Q26E NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 26 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TGATGGAACTCAACTGATTTT 0.408000 5 72 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219870935 219870935 + Missense_Mutation SNP G G T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr2:219870935G>T ENST00000341552.5 - 31 4813 c.4730C>A c.(4729-4731)cCc>cAc p.P1577H CCDC108_ENST00000453220.1_Missense_Mutation_p.P1577H|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1577H|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1577 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTTCTTGATGGGAGGCAGTGT 0.612000 5 76 0.014758 0.0148474 1 1 0 RNF43 54894 broad.mit.edu 37 17 56438227 56438227 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:56438227G>C ENST00000584437.1 - 6 2721 c.766C>G c.(766-768)Cgg>Ggg p.R256G RNF43_ENST00000500597.2_Missense_Mutation_p.R215G|RNF43_ENST00000583753.1_Missense_Mutation_p.R215G|RNF43_ENST00000577625.1_Missense_Mutation_p.R129G|RNF43_ENST00000407977.2_Missense_Mutation_p.R256G|RNF43_ENST00000577716.1_Missense_Mutation_p.R256G|RNF43_ENST00000581868.1_Missense_Mutation_p.R129G|BZRAP1-AS1_ENST00000583841.1_RNA Q68DV7 RNF43_HUMAN ring finger protein 43 256 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CACTCACCCCGGGCCTGCCTG 0.637000 11 24 0 0 1 0 0 FFAR1 2864 broad.mit.edu 37 19 35842853 35842853 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:35842853C>T ENST00000246553.2 + 1 409 c.399C>T c.(397-399)ctC>ctT p.L133L NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 133 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) TCTGGGCCCTCGTCCTGTGTC 0.652000 10 75 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446851 85446851 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr6:85446851C>G ENST00000369663.5 - 8 1713 c.1376G>C c.(1375-1377)gGc>gCc p.G459A TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 459 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GCTGCTCACGCCCACATAGGA 0.577000 36 86 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124982337 124982337 + Splice_Site SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr8:124982337C>A ENST00000522917.1 + 6 653 c.447_splice c.e6+1 p.S149_splice FER1L6_ENST00000399018.1_Splice_Site_p.S149_splice NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 149 C2 1. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCAAAATCTCCGTAAGTATAG 0.443000 37 42 4.92203e-23 5.44704e-23 1 1 0 TENM3 55714 broad.mit.edu 37 4 183676138 183676138 + Missense_Mutation SNP G G T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr4:183676138G>T ENST00000511685.1 + 22 4741 c.4618G>T c.(4618-4620)Gat>Tat p.D1540Y TENM3_ENST00000406950.2_Missense_Mutation_p.D1540Y|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 AGTCACTGGTGATTACCTTTA 0.393000 13 31 0.00136819 0.00138488 1 1 0 HIST1H3C 8352 broad.mit.edu 37 6 26045818 26045818 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr6:26045818G>A ENST00000540144.1 + 1 180 c.180G>A c.(178-180)gaG>gaA p.E60E NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 60 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 AGTCCACCGAGCTGCTGATCC 0.637000 27 69 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74976824 74976824 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr14:74976824C>T ENST00000261978.4 - 20 3507 c.3121G>A c.(3121-3123)Gag>Aag p.E1041K LTBP2_ENST00000556690.1_Missense_Mutation_p.E1041K NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1041 Cys-rich.|EGF-like 8; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GAGGTGACCTCATAGCCCTGC 0.582000 16 18 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185181348 185181348 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:185181348G>C ENST00000265026.3 + 8 1623 c.1289G>C c.(1288-1290)aGa>aCa p.R430T MAP3K13_ENST00000446828.1_Missense_Mutation_p.R223T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R286T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R430T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R286T NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 430 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GCTGAATGGAGAGAAGAAGTG 0.383000 11 60 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89198748 89198748 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr8:89198748C>T ENST00000286614.6 - 3 642 c.361G>A c.(361-363)Gca>Aca p.A121T MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 121 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CCTGTCAATGCATATCGCTTT 0.398000 97 114 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71660566 71660566 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr4:71660566C>T ENST00000381006.3 + 14 2091 c.1512C>T c.(1510-1512)gaC>gaT p.D504D RUFY3_ENST00000502653.1_Silent_p.D451D NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 339 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) TACAAAACGACAGGAGCATCC 0.363000 20 76 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73931477 73931477 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr5:73931477C>T ENST00000302351.4 - 2 1964 c.834G>A c.(832-834)caG>caA p.Q278Q ENC1_ENST00000510316.1_Silent_p.Q205Q|ENC1_ENST00000537006.1_Silent_p.Q278Q NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 278 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) CACCGTCATTCTGCAGGATTT 0.498000 26 51 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40384039 40384039 + Missense_Mutation SNP T T G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:40384039T>G ENST00000293328.3 - 2 275 c.107A>C c.(106-108)cAg>cCg p.Q36P NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 36 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TTCAATCCACTGGGATAAATA 0.428000 29 65 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6635621 6635621 + Silent SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:6635621C>A ENST00000315579.5 + 21 3373 c.2574C>A c.(2572-2574)gtC>gtA p.V858V NCAPD2_ENST00000545962.1_Silent_p.V813V|NCAPD2_ENST00000542492.1_3'UTR NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 858 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 CAGGCTTTGTCCACCCAGACC 0.547000 25 61 5.45024e-15 5.87493e-15 1 1 0 FBN3 84467 broad.mit.edu 37 19 8161800 8161800 + Missense_Mutation SNP C C A rs143230386 by1000genomes TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:8161800C>A ENST00000600128.1 - 43 5792 c.5378G>T c.(5377-5379)cGa>cTa p.R1793L FBN3_ENST00000270509.2_Missense_Mutation_p.R1793L|FBN3_ENST00000601739.1_Missense_Mutation_p.R1793L Q75N90 FBN3_HUMAN fibrillin 3 1793 EGF-like 27; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TTTGTACCCTCGGGTGCACTT 0.607000 28 38 4.59853e-10 4.86214e-10 1 1 0 CIDECP 152302 broad.mit.edu 37 3 10067797 10067797 + RNA SNP T T C rs33917318 by1000genomes TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:10067797T>C ENST00000432401.1 - 0 244 GCGGATCATGTCTACGAAGAG 0.562000 3 29 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176004449 176004449 + Missense_Mutation SNP C C T rs3762960 TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr5:176004449C>T ENST00000510636.1 + 13 1518 c.1244C>T c.(1243-1245)gCc>gTc p.A415V CDHR2_ENST00000261944.5_Missense_Mutation_p.A415V|CDHR2_ENST00000506348.1_Missense_Mutation_p.A415V NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 415 Cadherin 4. A -> G (in dbSNP:rs3762960). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GATGCAGAAGCCTTCAGCGTC 0.657000 4 5 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215793728 215793728 + Missense_Mutation SNP A A G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:215793728A>G ENST00000259154.4 + 18 2510 c.2216A>G c.(2215-2217)aAg>aGg p.K739R KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 739 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TCAGAATCCAAGAAAAGGTCA 0.353000 7 84 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56557512 56557512 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:56557512G>A ENST00000323777.3 - 2 776 c.667C>T c.(667-669)Cgg>Tgg p.R223W NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTGGGGTCCGATCTAAACCT 0.468000 35 105 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16870183 16870183 + Silent SNP A A G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:16870183A>G ENST00000524140.2 + 7 2335 c.1917A>G c.(1915-1917)ggA>ggG p.G639G NWD1_ENST00000552788.1_Silent_p.G639G|NWD1_ENST00000549814.1_Silent_p.G639G|NWD1_ENST00000523826.1_Silent_p.G433G|NWD1_ENST00000379808.3_Silent_p.G639G|NWD1_ENST00000339803.6_Silent_p.G504G NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 639 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGGATCTGGGATACTACTTGG 0.662000 15 14 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28296356 28296356 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:28296356G>C ENST00000394835.3 + 4 930 c.738G>C c.(736-738)aaG>aaC p.K246N EFCAB5_ENST00000536908.2_Missense_Mutation_p.K190N|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K246N|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K246N|EFCAB5_ENST00000320856.5_Missense_Mutation_p.K246N NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 246 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AAGACCTGAAGATATATGTTC 0.338000 7 21 0 0 1 0 0 MCTS1 28985 broad.mit.edu 37 X 119739990 119739990 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chrX:119739990G>A ENST00000371315.3 + 3 757 c.224G>A c.(223-225)aGa>aAa p.R75K MCTS1_ENST00000371317.5_Missense_Mutation_p.R74K|MCTS1_ENST00000487133.1_3'UTR NM_001137554.1 NP_001131026.1 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 74 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1) 10 TTTAGACAAAGAGAAGGGCCT 0.279000 5 6 0 0 1 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76968021 76968021 + Silent SNP T T C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:76968021T>C ENST00000262776.3 - 6 1703 c.1395A>G c.(1393-1395)caA>caG p.Q465Q LGALS3BP_ENST00000591778.1_3'UTR NM_005567.3 NP_005558.1 Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 465 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AGCTGGGGTGTTGTGGAGTCT 0.557000 OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 33 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35921144 35921144 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr5:35921144C>T ENST00000397367.2 - 2 205 c.79G>A c.(79-81)Gaa>Aaa p.E27K CAPSL_ENST00000397366.1_Missense_Mutation_p.E27K|CAPSL_ENST00000514524.1_Missense_Mutation_p.E27K NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 27 cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CGGAGTCTTTCAATGGGGTCG 0.602000 24 94 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3673252 3673252 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr20:3673252G>A ENST00000344754.4 - 15 3945 c.3946C>T c.(3946-3948)Cgg>Tgg p.R1316W SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1316W NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1316 Ig-like C2-type 13. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCATGAGCCCGCGTGGCCACC 0.652000 6 22 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178096180 178096180 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr2:178096180G>A ENST00000397062.3 - 5 1705 c.1151C>T c.(1150-1152)gCc>gTc p.A384V NFE2L2_ENST00000464747.1_Missense_Mutation_p.A368V|NFE2L2_ENST00000446151.2_Missense_Mutation_p.A361V|NFE2L2_ENST00000397063.4_Missense_Mutation_p.A368V NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 384 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTTCCAGGGGCACTATCTAG 0.498000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 60 88 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98763931 98763931 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr10:98763931G>A ENST00000266058.4 - 34 4004 c.3759C>T c.(3757-3759)gcC>gcT p.A1253A SLIT1_ENST00000371070.4_Silent_p.A1253A|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1253 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TCTGGTCAAAGGCAACCAGCT 0.557000 57 137 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155155736 155155736 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr4:155155736G>A ENST00000357232.3 - 25 8702 c.8703C>T c.(8701-8703)atC>atT p.I2901I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2901 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATGTACCACTGATGTGTGTTC 0.433000 21 52 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160585554 160585554 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr2:160585554G>C ENST00000259050.3 + 2 143 c.21G>C c.(19-21)agG>agC p.R7S MARCH7_ENST00000539065.1_Missense_Mutation_p.R7S|MARCH7_ENST00000409175.1_Missense_Mutation_p.R7S|MARCH7_ENST00000473749.1_3'UTR NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 7 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AACCTTCAAGGATTCCAAGAA 0.348000 4 24 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10893794 10893794 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:10893794C>G ENST00000314646.5 + 6 1011 c.847C>G c.(847-849)Cag>Gag p.Q283E DNM2_ENST00000359692.6_Missense_Mutation_p.Q283E|DNM2_ENST00000408974.4_Missense_Mutation_p.Q283E|DNM2_ENST00000389253.4_Missense_Mutation_p.Q283E|DNM2_ENST00000585892.1_Missense_Mutation_p.Q283E|DNM2_ENST00000355667.6_Missense_Mutation_p.Q283E P50570 DYN2_HUMAN dynamin 2 283 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GACGCTGAATCAGGTACTGCA 0.582000 """F, N, Splice, Mis, O""" ETP ALL 16 26 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24535346 24535346 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr5:24535346C>T ENST00000264463.4 - 5 1196 c.689G>A c.(688-690)aGa>aAa p.R230K NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 230 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTATTGCTCTCTGTTTTCTCT 0.423000 HNSCC(23;0.051) 20 128 0 0 1 0 0 IFT52 51098 broad.mit.edu 37 20 42232421 42232421 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr20:42232421C>G ENST00000373030.3 + 4 359 c.229C>G c.(229-231)Ctt>Gtt p.L77V IFT52_ENST00000373039.4_Missense_Mutation_p.L77V NM_016004.2 NP_057088.2 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog (Chlamydomonas) 77 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GAAGAAATATCTTGACACTGG 0.348000 20 24 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237057670 237057670 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:237057670C>G ENST00000366577.5 + 30 3612 c.3218C>G c.(3217-3219)tCt>tGt p.S1073C MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S1022C NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1073 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GAGAAGGACTCTGCCAGCACG 0.572000 8 52 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106898816 106898816 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr7:106898816C>G ENST00000393603.2 - 15 1952 c.1681G>C c.(1681-1683)Gga>Cga p.G561R COG5_ENST00000347053.3_Missense_Mutation_p.G561R|COG5_ENST00000297135.3_Missense_Mutation_p.G561R NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 561 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding p.G561R(1) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CTTGCATCTCCTTGTGTGGAG 0.408000 24 43 0 0 1 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74701039 74701039 + Missense_Mutation SNP A A C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr10:74701039A>C ENST00000373032.3 - 3 446 c.354T>G c.(352-354)tgT>tgG p.C118W NM_032562.2 NP_115951.2 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB 118 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) AAGTGTCATAACAGACATCCA 0.493000 55 106 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185181373 185181373 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:185181373G>A ENST00000265026.3 + 8 1648 c.1314G>A c.(1312-1314)gaG>gaA p.E438E MAP3K13_ENST00000446828.1_Silent_p.E231E|MAP3K13_ENST00000535426.1_Silent_p.E294E|MAP3K13_ENST00000424227.1_Silent_p.E438E|MAP3K13_ENST00000443863.1_Silent_p.E294E NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 438 Leucine-zipper 1. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AACATTTTGAGAAGATCAAAA 0.413000 14 55 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57063721 57063721 + Silent SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr16:57063721G>C ENST00000436936.1 + 9 2505 c.2280G>C c.(2278-2280)ctG>ctC p.L760L NLRC5_ENST00000308149.7_Silent_p.L760L|NLRC5_ENST00000262510.6_Silent_p.L760L|NLRC5_ENST00000539144.1_Silent_p.L760L Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 760 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AGGTGGTGCTGAACATTGTGG 0.572000 7 46 0 0 1 0 0 NAGPA 51172 broad.mit.edu 37 16 5083366 5083366 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr16:5083366C>T ENST00000312251.3 - 2 469 c.450G>A c.(448-450)ggG>ggA p.G150G NAGPA_ENST00000381955.3_Silent_p.G150G|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 150 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) TCACCACGTTCCCCAGGCACT 0.726000 3 9 0 0 1 0 0 CCDC7 221016 broad.mit.edu 37 10 32856604 32856604 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr10:32856604G>C ENST00000362006.5 + 16 1747 c.1204G>C c.(1204-1206)Gaa>Caa p.E402Q C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.E402Q NM_145023.4 NP_659460.3 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 402 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) ACAGGAAGCTGAAAAAGCTAA 0.333000 6 21 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200545 123200545 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:123200545C>G ENST00000528880.2 - 1 894 c.740G>C c.(739-741)aGc>aCc p.S247T HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 247 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) CACAACCACGCTGGGAAGGAA 0.552000 7 19 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8089921 8089921 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr4:8089921G>A ENST00000296372.8 - 4 571 c.429C>T c.(427-429)agC>agT p.S143S ABLIM2_ENST00000361581.5_Silent_p.S143S|ABLIM2_ENST00000447017.2_Silent_p.S143S|ABLIM2_ENST00000361737.5_Silent_p.S143S|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Silent_p.S143S|ABLIM2_ENST00000545242.1_Silent_p.S143S|ABLIM2_ENST00000546334.1_Silent_p.S143S|ABLIM2_ENST00000428004.2_Silent_p.S143S|ABLIM2_ENST00000505872.1_Silent_p.S143S|ABLIM2_ENST00000341937.5_Silent_p.S143S Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 143 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 ACAGGTGCGCGCTGCTGCCCA 0.632000 16 17 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73487524 73487524 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:73487524C>T ENST00000314256.7 + 13 1768 c.1374C>T c.(1372-1374)ttC>ttT p.F458F KIAA0195_ENST00000375248.5_Silent_p.F468F|KIAA0195_ENST00000579208.1_Silent_p.F109F NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 458 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCGCTCCTTCTGCCATCCCG 0.632000 36 68 0 0 1 0 0 PDGFRL 5157 broad.mit.edu 37 8 17486207 17486207 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr8:17486207G>C ENST00000541323.1 + 5 1162 c.717G>C c.(715-717)gaG>gaC p.E239D PDGFRL_ENST00000398074.3_Missense_Mutation_p.E239D|PDGFRL_ENST00000251630.6_Missense_Mutation_p.E239D NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 239 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) CTCATTCCGAGCACCAGGGTG 0.577000 8 65 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11786923 11786923 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:11786923G>A ENST00000262442.3 + 56 10895 c.10827G>A c.(10825-10827)caG>caA p.Q3609Q DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Silent_p.Q3609Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3609 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAAAGCAGCAGAATGGATTCA 0.502000 45 43 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60193861 60193861 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr14:60193861C>T ENST00000267484.5 - 3 1876 c.1541G>A c.(1540-1542)cGg>cAg p.R514Q NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 514 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGCCAGGCCCCGCCGGCTTGG 0.726000 4 11 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2413747 2413747 + Missense_Mutation SNP T T G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr19:2413747T>G ENST00000332578.3 + 9 1202 c.1202T>G c.(1201-1203)tTt>tGt p.F401C NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 401 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) GGCCGGTTCTTTCTGGCTGGC 0.642000 14 49 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25220650 25220650 + Nonsense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr8:25220650C>T ENST00000276440.7 + 29 3081 c.3037C>T c.(3037-3039)Caa>Taa p.Q1013* NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1013 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GAATATGACTCAAAACAGGTG 0.448000 19 59 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196884094 196884094 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:196884094G>C ENST00000367416.2 + 9 1500 c.1363G>C c.(1363-1365)Gaa>Caa p.E455Q CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.E209Q|CFHR4_ENST00000251424.4_Missense_Mutation_p.E209Q NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AGATTCTTCAGAAAAGTGTGG 0.358000 6 118 0 0 1 0 0 IGFBP4 3487 broad.mit.edu 37 17 38610236 38610236 + Silent SNP A A G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:38610236A>G ENST00000269593.4 + 3 839 c.564A>G c.(562-564)tcA>tcG p.S188S IGFBP4_ENST00000542955.1_Silent_p.S88S NM_001552.2 NP_001543.2 P22692 IBP4_HUMAN insulin-like growth factor binding protein 4 188 Thyroglobulin type-1. DNA metabolic process|signal transduction|skeletal system development NS(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TGGCCGCTTCACAGAGCCGCA 0.647000 37 93 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032181 26032181 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr6:26032181C>T ENST00000244661.2 - 1 107 c.108G>A c.(106-108)gtG>gtA p.V36V NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 36 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 GAGGCTTTTTCACGCCGCCGG 0.627000 55 125 0 0 1 0 0 PIAS3 10401 broad.mit.edu 37 1 145580237 145580237 + Missense_Mutation SNP G G T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:145580237G>T ENST00000393045.2 + 6 809 c.719G>T c.(718-720)cGc>cTc p.R240L PIAS3_ENST00000369298.1_Missense_Mutation_p.R205L|PIAS3_ENST00000369299.3_Missense_Mutation_p.R231L NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 240 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGGCCCAGCCGCCCCATCAAC 0.587000 25 149 1.55469e-16 1.68679e-16 1 1 0 GRHL2 79977 broad.mit.edu 37 8 102570864 102570864 + Missense_Mutation SNP A A T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr8:102570864A>T ENST00000251808.3 + 4 840 c.502A>T c.(502-504)Atg>Ttg p.M168L GRHL2_ENST00000395927.1_Missense_Mutation_p.M152L NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 168 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ACCAGTTTTCATGGCCCCACC 0.562000 29 66 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115336635 115336635 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr9:115336635C>G ENST00000337530.6 + 2 571 c.275C>G c.(274-276)tCt>tGt p.S92C KIAA1958_ENST00000536272.1_Missense_Mutation_p.S92C|KIAA1958_ENST00000374244.3_Missense_Mutation_p.S92C NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 92 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GGGGTGCCCTCTGAGACACAG 0.498000 10 78 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192279318 192279318 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr2:192279318G>C ENST00000392318.3 + 29 3329 c.3082G>C c.(3082-3084)Gag>Cag p.E1028Q MYO1B_ENST00000339514.4_Missense_Mutation_p.E970Q|MYO1B_ENST00000304164.4_Missense_Mutation_p.E1028Q|MYO1B_ENST00000439065.2_Missense_Mutation_p.E273Q|MYO1B_ENST00000392316.1_Missense_Mutation_p.E999Q NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 1028 myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AATCAAGTCAGAGGTTCCATT 0.383000 5 44 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89499342 89499342 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:89499342G>A ENST00000336596.2 + 15 2737 c.2512G>A c.(2512-2514)Gat>Aat p.D838N EPHA3_ENST00000494014.1_Missense_Mutation_p.D838N NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 838 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TAAAGCTGTAGATGAGGGCTA 0.493000 TSP Lung(6;0.00050) 20 20 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 70007391 70007391 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:70007391C>T ENST00000355303.5 + 17 2008 c.1703C>T c.(1702-1704)gCa>gTa p.A568V ANO1_ENST00000316296.5_Missense_Mutation_p.A510V|ANO1_ENST00000530676.1_Missense_Mutation_p.A422V|ANO1_ENST00000398543.2_Missense_Mutation_p.A422V|ANO1_ENST00000531349.1_Missense_Mutation_p.A277V|ANO1_ENST00000538023.1_Missense_Mutation_p.A568V NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 568 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 ACAGCCACCGCAGTCATCATC 0.587000 6 63 0 0 1 0 0 DPPA3 359787 broad.mit.edu 37 12 7864204 7864204 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:7864204G>A ENST00000345088.2 + 1 155 c.38G>A c.(37-39)gGg>gAg p.G13E NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 13 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) TACATCCCAGGGTCTCCACAA 0.483000 12 31 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63198131 63198131 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr17:63198131G>A ENST00000449996.3 + 14 1060 c.988G>A c.(988-990)Gaa>Aaa p.E330K RGS9_ENST00000262406.9_Missense_Mutation_p.E333K|RGS9_ENST00000443584.3_Missense_Mutation_p.E330K NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 333 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GGGATTCTGGGAAGCCTGCGA 0.483000 18 52 0 0 1 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043672 26043672 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr6:26043672C>G ENST00000357905.2 - 1 213 c.214G>C c.(214-216)Gag>Cag p.E72Q NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 72 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GCGATGCGCTCGAAGATGTCG 0.572000 63 127 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6637215 6637215 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:6637215C>T ENST00000315579.5 + 24 3900 c.3101C>T c.(3100-3102)tCt>tTt p.S1034F NCAPD2_ENST00000545962.1_Missense_Mutation_p.S989F|NCAPD2_ENST00000542492.1_3'UTR NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1034 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 CCAGACCTCTCTGCAGCTGCT 0.522000 46 117 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58126243 58126243 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:58126243G>C ENST00000357377.3 - 1 299 c.300C>G c.(298-300)ttC>ttG p.F100L NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTGCACAAAAGAACATCTGAG 0.478000 29 31 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101528870 101528870 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr15:101528870G>C ENST00000284395.5 + 6 856 c.456G>C c.(454-456)tgG>tgC p.W152C LRRK1_ENST00000532029.2_Missense_Mutation_p.W155C|LRRK1_ENST00000388948.3_Missense_Mutation_p.W155C Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 155 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCTGAACTGGATGCTGGCCT 0.612000 28 65 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133805952 133805952 + Nonsense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:133805952G>A ENST00000321016.8 - 6 1047 c.817C>T c.(817-819)Cag>Tag p.Q273* IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Q273* Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 273 Ig-like 3. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTCACTTCTGAAAGTAGACG 0.617000 4 12 0 0 1 0 0 OPALIN 93377 broad.mit.edu 37 10 98118916 98118916 + Translation_Start_Site SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr10:98118916C>A ENST00000419479.1 - 0 176 OPALIN_ENST00000371172.3_De_novo_Start_InFrame|OPALIN_ENST00000393871.1_De_novo_Start_InFrame NM_001040103.1 NP_001035192.1 Q96PE5 OPALI_HUMAN oligodendrocytic myelin paranodal and inner loop protein Golgi apparatus|integral to membrane|plasma membrane breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 CCCTCTTTGCCTTGATTTTCT 0.562000 4 5 0.000602214 0.000613298 1 1 0 GPR65 8477 broad.mit.edu 37 14 88478137 88478137 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr14:88478137C>G ENST00000267549.3 + 2 1504 c.946C>G c.(946-948)Caa>Gaa p.Q316E RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 316 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TAATACATCACAAAGACAAAG 0.363000 11 16 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810602 123810602 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:123810602C>T ENST00000307033.2 + 1 353 c.279C>T c.(277-279)tcC>tcT p.S93S NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTACCATTTCCTTTGGTGGAT 0.468000 47 75 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31448657 31448657 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr5:31448657G>A ENST00000511367.2 - 22 3123 c.2879C>T c.(2878-2880)tCg>tTg p.S960L DROSHA_ENST00000344624.3_Missense_Mutation_p.S960L|DROSHA_ENST00000442743.1_Missense_Mutation_p.S923L|DROSHA_ENST00000513349.1_Missense_Mutation_p.S923L NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 960 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 ACTTTACCTCGAGGGAGTTGG 0.313000 8 33 0 0 1 0 0 C2orf40 84417 broad.mit.edu 37 2 106690449 106690449 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr2:106690449G>A ENST00000409944.1 + 4 358 c.127G>A c.(127-129)Gag>Aag p.E43K C2orf40_ENST00000238044.3_Missense_Mutation_p.E79K|C2orf40_ENST00000489174.1_3'UTR Q9H1Z8 AUGN_HUMAN chromosome 2 open reading frame 40 79 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 GACTCGGCCCGAGGTGCAGCA 0.577000 6 109 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423731 107423731 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr7:107423731G>A ENST00000340010.5 - 9 1222 c.1038C>T c.(1036-1038)atC>atT p.I346I SLC26A3_ENST00000422236.2_Silent_p.I311I NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 346 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CAACCATTGCGATGCCGAAGC 0.433000 17 78 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112237742 112237742 + Missense_Mutation SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:112237742C>A ENST00000261733.2 + 11 1342 c.1281C>A c.(1279-1281)ttC>ttA p.F427L ALDH2_ENST00000416293.3_Missense_Mutation_p.F380L NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 427 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) TCCTGAAGTTCAAGACCATAG 0.557000 T HMGA2 leiomyoma 15 26 1.3612e-06 1.42113e-06 1 1 0 PCNXL2 80003 broad.mit.edu 37 1 233394357 233394357 + Silent SNP C C A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:233394357C>A ENST00000258229.8 - 5 1485 c.1251G>T c.(1249-1251)gcG>gcT p.A417A PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 417 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GAGAACCGGCCGCCCCTGGGT 0.567000 80 63 8.41775e-28 9.37817e-28 1 1 0 CACNA1D 776 broad.mit.edu 37 3 53736702 53736702 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:53736702C>T ENST00000288139.3 + 9 1373 c.1255C>T c.(1255-1257)Cgg>Tgg p.R419W CACNA1D_ENST00000350061.5_Missense_Mutation_p.R419W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R419W NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 419 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGCAAAAGCACGGGGAGATTT 0.522000 9 18 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89498522 89498522 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr3:89498522G>C ENST00000336596.2 + 14 2719 c.2494G>C c.(2494-2496)Gat>Cat p.D832H EPHA3_ENST00000494014.1_Missense_Mutation_p.D832H NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 832 Protein kinase. extracellular region|integral to plasma membrane ATP binding p.D832N(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTCCAATCAGGATGTAAGTAT 0.443000 TSP Lung(6;0.00050) 39 50 0 0 1 0 0 GPR152 390212 broad.mit.edu 37 11 67219685 67219685 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr11:67219685C>T ENST00000312457.2 - 1 515 c.511G>A c.(511-513)Gag>Aag p.E171K NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 171 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) ACGGCAGCCTCGGGGAAGACC 0.682000 12 51 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6637370 6637370 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr12:6637370C>T ENST00000315579.5 + 25 3974 c.3175C>T c.(3175-3177)Ctg>Ttg p.L1059L NCAPD2_ENST00000545962.1_Silent_p.L1014L NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1059 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GCTTCGTCTTCTGTTCACCAT 0.527000 71 193 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212273710 212273710 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:212273710C>G ENST00000366991.4 + 14 1692 c.1378C>G c.(1378-1380)Ctt>Gtt p.L460V DTL_ENST00000542077.1_Missense_Mutation_p.L418V|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 460 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) AGACCTCCCTCTTCCTTCAAA 0.557000 5 91 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74818999 74818999 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:74818999C>G ENST00000370895.1 + 12 1320 c.1285C>G c.(1285-1287)Cag>Gag p.Q429E TNNI3K_ENST00000326637.3_Missense_Mutation_p.Q328E|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.Q429E|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.Q429E|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.Q429E Q59H18 TNI3K_HUMAN 328 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding TCTTCTTGATCAGAATGTCAT 0.368000 6 18 0 0 1 0 0 RSPO4 343637 broad.mit.edu 37 20 948618 948618 + Silent SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr20:948618G>A ENST00000217260.4 - 2 339 c.243C>T c.(241-243)cgC>cgT p.R81R RSPO4_ENST00000400634.2_Silent_p.R81R NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 81 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CCTCCTGGCCGCGGATGCCGA 0.602000 39 41 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10529691 10529691 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr6:10529691C>T ENST00000379597.3 + 1 1103 c.547C>T c.(547-549)Ccc>Tcc p.P183S GCNT2_ENST00000495262.1_Missense_Mutation_p.P183S|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 183 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CTCTGAAGTTCCCTGGAAGTA 0.493000 22 60 0 0 1 0 0 CDADC1 81602 broad.mit.edu 37 13 49852582 49852582 + Missense_Mutation SNP G G A TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr13:49852582G>A ENST00000251108.6 + 7 1260 c.1147G>A c.(1147-1149)Gac>Aac p.D383N CDADC1_ENST00000444959.1_Missense_Mutation_p.D185N NM_001193478.1|NM_030911.3 NP_001180407.1|NP_112173.1 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 383 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) ACACATGGATGACAAGCAGAA 0.403000 27 108 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 4 9 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 2 4 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888987 65888987 + RNA DEL C C - rs77289928 TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr7:65888987delC ENST00000442578.1 - 0 826 Ctttttttttctttttttttt 0.483 4 9 --- --- --- --- RASA4B 100271927 broad.mit.edu 37 7 102147228 102147229 + In_Frame_Ins INS - - TCG TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr7:102147228_102147229insTCG ENST00000481893.1 - 10 1249_1250 c.125_126insCGA c.(124-126)gga>gCGAga p.42_42G>AR RASA4B_ENST00000465829.1_In_Frame_Ins_p.114_114G>AR|RASA4B_ENST00000306682.6_In_Frame_Ins_p.42_42G>AR|RASA4B_ENST00000541662.1_In_Frame_Ins_p.114_114G>AR RAS p21 protein activator 4B skin(1) 1 CCTGCACCTCCTCGTCGGGGTC 0.698 3 4 --- --- --- --- SNHG24 101929369 broad.mit.edu 37 14 101451259 101451259 + RNA DEL T T - TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr14:101451259delT ENST00000554693.2 + 0 886 TAGAACATAATTTTTTTGGCA 0.328 9 23 --- --- --- --- PLA2G4E 123745 broad.mit.edu 37 15 42280282 42280282 + Frame_Shift_Del DEL A A - TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr15:42280282delA ENST00000399518.3 - 16 2282 c.1796delT c.(1795-1797)tcfs p.F599fs PLA2G4E_ENST00000413860.2_Frame_Shift_Del_p.F570fs|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 587 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CCACCTGTGGAAAAACTCCTC 0.612 2 4 --- --- --- --- TBC1D21 161514 broad.mit.edu 37 15 74173755 74173755 + Frame_Shift_Del DEL C C - TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr15:74173755delC ENST00000300504.2 + 2 159 c.76delC c.(76-78)ccfs p.P26fs TBC1D21_ENST00000562056.1_Frame_Shift_Del_p.P26fs|TBC1D21_ENST00000535547.2_Intron NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 26 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 GAGAAAACCACCCATTGACAA 0.443 17 38 --- --- --- --- ZNF74 7625 broad.mit.edu 37 22 20759667 20759667 + Splice_Site DEL A A - TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68872bc-a341-4293-bf53-84ef0a0e3cfb c634514e-679e-4fdb-a3ec-d2cabe170e9b g.chr22:20759667delA ENST00000400451.2 + 5 858 c.343_splice c.e5-1 p.E115_splice ZNF74_ENST00000356671.5_Splice_Site_p.E115_splice|ZNF74_ENST00000403682.3_Splice_Site_p.R86_splice|ZNF74_ENST00000405993.1_Splice_Site_p.E83_splice|ZNF74_ENST00000357502.5_Splice_Site_p.R120_splice NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 115 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TATCTTACAGAATGGGAGCTG 0.537 47 105 --- --- --- ---