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 ACTN2 88 broad.mit.edu 37 1 236925911 236925911 + Missense_Mutation SNP G G T rs142646143 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:236925911G>T ENST00000366578.4 + 21 2843 c.2677G>T c.(2677-2679)Gat>Tat p.D893Y ACTN2_ENST00000546208.1_Missense_Mutation_p.D387Y|ACTN2_ENST00000542672.1_Missense_Mutation_p.D893Y NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 893 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding p.D893Y(2) endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGGGGAGAGCGATCTGTGATG 0.507000 17 14 1.5739e-10 1.93116e-10 0.004007 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33549428 33549428 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:33549428C>A ENST00000504830.1 - 21 4521 c.4186G>T c.(4186-4188)Gac>Tac p.D1396Y ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1311Y NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1396 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.D1396Y(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TTCCGGTGGTCCCGGCTGTCC 0.567000 HNSCC(64;0.19) 69 83 3.41413e-29 5.09572e-29 0.014410 1 0 OR10K1 391109 broad.mit.edu 37 1 158436195 158436195 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:158436195A>T ENST00000289451.2 + 1 924 c.844A>T c.(844-846)Acc>Tcc p.T282S NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T282S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CACCATCCTTACCCCATTGTT 0.388000 63 67 0 0 0.014410 0 0 MUC17 140453 broad.mit.edu 37 7 100680675 100680675 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:100680675G>C ENST00000306151.4 + 3 6042 c.5978G>C c.(5977-5979)aGc>aCc p.S1993T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1993 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S1993T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ATGCCTCTCAGCACCACGCTG 0.507000 148 276 0 0 0.014410 0 0 KDM3B 51780 broad.mit.edu 37 5 137727539 137727539 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:137727539A>T ENST00000314358.5 + 8 2418 c.2218A>T c.(2218-2220)Act>Tct p.T740S KDM3B_ENST00000394866.1_Missense_Mutation_p.T396S|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 740 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.T740S(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TGAGATGCCAACTCTCTCCTC 0.612000 43 114 0 0 0.008740 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237382 140237382 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:140237382G>A ENST00000307360.5 + 1 1749 c.1749G>A c.(1747-1749)tcG>tcA p.S583S PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.S583S(1) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGCGGTCGGTGGTTGCGG 0.657000 5 74 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179593685 179593685 + Silent SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:179593685C>A ENST00000589042.1 - 65 19304 c.19080G>T c.(19078-19080)ggG>ggT p.G6360G TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.G6043G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G5116G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6043 Ig-like 45. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G5116V(1) 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) AGGTATATCTCCCACTGTGTC 0.383000 15 29 6.72482e-11 8.30225e-11 0.003163 1 0 RNF5 6048 broad.mit.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:32147865C>T ENST00000427134.2 + 5 422 c.407C>T c.(406-408)aCc>aTc p.T136I RNF5_ENST00000375094.3_Missense_Mutation_p.T136I Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 136 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T136I(3) endometrium(1)|lung(7)|urinary_tract(2) 10 TTTTTCACCACCGTCTTCAAT 0.557000 6 203 0 0 0.001168 0 0 USP9X 8239 broad.mit.edu 37 X 41088852 41088852 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:41088852G>T ENST00000324545.7 + 43 7884 c.7251G>T c.(7249-7251)tgG>tgT p.W2417C USP9X_ENST00000378308.2_Missense_Mutation_p.W2417C NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2417 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity p.W2410C(1)|p.W2417C(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 AGTGGACCTGGGCAGTGGAAT 0.383000 27 17 9.80776e-20 1.38137e-19 0.006320 1 0 ZNF28 7576 broad.mit.edu 37 19 53304727 53304727 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:53304727C>T ENST00000438150.2 - 2 1105 c.212G>A c.(211-213)gGc>gAc p.G71D ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.G71D|ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000457749.2_Missense_Mutation_p.G124D|ZNF28_ENST00000414252.2_Missense_Mutation_p.G71D P17035 ZNF28_HUMAN zinc finger protein 28 124 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G71D(2)|p.G124D(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATCATGTTGGCCTGTACTACC 0.418000 84 262 0 0 0.014410 0 0 SPIN3 169981 broad.mit.edu 37 X 57020669 57020669 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:57020669C>G ENST00000374919.3 - 2 1034 c.712G>C c.(712-714)Gtg>Ctg p.V238L NM_001010862.2 NP_001010862.2 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 238 gamete generation p.V238L(1) central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 ATGAAGTACACAGAGGGTTTT 0.403000 36 21 0 0 0.003755 0 0 ZNF253 56242 broad.mit.edu 37 19 19989390 19989390 + Missense_Mutation SNP A A C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:19989390A>C ENST00000589717.1 + 2 196 c.104A>C c.(103-105)gAg>gCg p.E35A ZNF253_ENST00000355650.4_Intron NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 35 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E35A(2) endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTGATGTTAGAGAACTACAGA 0.378000 23 84 0 0 0.003330 0 0 KIDINS220 57498 broad.mit.edu 37 2 8873800 8873800 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:8873800A>G ENST00000256707.3 - 29 4008 c.3827T>C c.(3826-3828)aTg>aCg p.M1276T KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1177T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1257T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1257T NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1276 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane p.M1276T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGCGTTTCTCATTTCTAGTAC 0.433000 14 43 0 0 0.002450 0 0 ATP1A2 477 broad.mit.edu 37 1 160093794 160093794 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:160093794A>T ENST00000361216.3 + 5 532 c.443A>T c.(442-444)cAg>cTg p.Q148L ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q148L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 148 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.Q148L(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCTACTACCAGGAGGCCAAG 0.532000 16 85 0 0 0.007413 0 0 OR4K1 79544 broad.mit.edu 37 14 20404276 20404276 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:20404276G>T ENST00000285600.4 + 1 510 c.451G>T c.(451-453)Gtg>Ttg p.V151L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V151L(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTCCTGGGCGGTGGGCGTTCT 0.458000 47 100 2.47872e-24 3.65863e-24 0.010771 1 0 IGHV2-70 28454 broad.mit.edu 37 14 107179223 107179223 + RNA SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:107179223G>T ENST00000390634.2 - 0 115 TCACAGGACGGGACAGTCAGT 0.507000 10 37 1.76689e-08 2.04857e-08 0.006214 1 0 UBE2J1 51465 broad.mit.edu 37 6 90045059 90045059 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:90045059G>T ENST00000435041.2 - 6 798 c.520C>A c.(520-522)Caa>Aaa p.Q174K NM_016021.2 NP_057105.2 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 174 endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity p.Q174K(1) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1) 18 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) TTGGCTTCTTGGTCAGCTTGG 0.398000 24 38 1.42536e-11 1.78728e-11 0.004656 1 0 HDAC2 3066 broad.mit.edu 37 6 114264527 114264527 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:114264527C>T ENST00000519065.1 - 12 1742 c.1366G>A c.(1366-1368)Gac>Aac p.D456N HDAC2_ENST00000398283.2_Missense_Mutation_p.D550N|HDAC2_ENST00000368632.2_Missense_Mutation_p.D426N|HDAC2_ENST00000519108.1_Missense_Mutation_p.D426N Q92769 HDAC2_HUMAN histone deacetylase 2 456 blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.D456N(1)|p.D550N(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) Gtttttttgtcctctgtttct 0.338000 16 18 0 0 0.004007 0 0 BLMH 642 broad.mit.edu 37 17 28576109 28576109 + Nonsense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:28576109C>A ENST00000261714.6 - 12 1468 c.1294G>T c.(1294-1296)Gag>Tag p.E432* BLMH_ENST00000394819.3_Nonsense_Mutation_p.E345*|RP11-354P11.2_ENST00000577420.1_RNA NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 432 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding p.E432*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 GCTAGCACCTCTTCAGGGACA 0.512000 16 66 3.52763e-06 3.94149e-06 0.004990 1 0 NFASC 23114 broad.mit.edu 37 1 204943311 204943311 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:204943311G>T ENST00000367172.4 + 13 1612 c.1284G>T c.(1282-1284)gtG>gtT p.V428V NFASC_ENST00000339876.6_Silent_p.V428V|NFASC_ENST00000539706.1_Silent_p.V439V|NFASC_ENST00000513543.1_Silent_p.V439V|NFASC_ENST00000403080.1_Silent_p.V428V|NFASC_ENST00000404907.1_Silent_p.V439V|NFASC_ENST00000367171.4_Silent_p.V428V|NFASC_ENST00000338515.6_Silent_p.V428V|NFASC_ENST00000404076.1_Silent_p.V422V|NFASC_ENST00000401399.1_Silent_p.V428V|NFASC_ENST00000360049.4_Silent_p.V439V|NFASC_ENST00000338586.6_Silent_p.V428V|NFASC_ENST00000367169.4_Silent_p.V428V|NFASC_ENST00000367170.4_Silent_p.V428V O94856 NFASC_HUMAN neurofascin 428 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.V428V(2)|p.V439V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TTTCAGATGTGCCGCCTCGGA 0.557000 13 12 7.03913e-09 8.28133e-09 0.013537 1 0 NOS1 4842 broad.mit.edu 37 12 117715889 117715889 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:117715889C>G ENST00000317775.6 - 9 2224 c.1539G>C c.(1537-1539)caG>caC p.Q513H NOS1_ENST00000338101.4_Missense_Mutation_p.Q513H|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 513 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.Q513H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTTTCCAGCCCTGCTGTATGC 0.587000 25 33 0 0 0.002780 0 0 KIF4B 285643 broad.mit.edu 37 5 154394083 154394083 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:154394083C>A ENST00000435029.4 + 1 824 c.664C>A c.(664-666)Caa>Aaa p.Q222K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 222 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.Q222K(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTCCATAGAGCAAAGAAAGAA 0.478000 19 66 1.33834e-09 1.59326e-09 0.007413 1 0 CACNA1D 776 broad.mit.edu 37 3 53760942 53760942 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:53760942G>T ENST00000288139.3 + 16 2315 c.2197G>T c.(2197-2199)Gat>Tat p.D733Y CACNA1D_ENST00000422281.2_Missense_Mutation_p.D713Y|CACNA1D_ENST00000350061.5_Missense_Mutation_p.D713Y NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 713 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.D733Y(1)|p.D733N(1) 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) TGTGATGTACGATGGCATCAT 0.498000 23 133 6.21321e-17 8.56995e-17 0.002780 1 0 CCT3 7203 broad.mit.edu 37 1 156307972 156307972 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:156307972T>C ENST00000295688.3 - 1 284 c.4A>G c.(4-6)Atg>Gtg p.M2V CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.M2V|CCT3_ENST00000368261.3_5'UTR|TSACC_ENST00000368255.3_Intron|CCT3_ENST00000472765.2_5'UTR NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 2 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding p.M2V(1) endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CGATGGCCCATCATGGCGACG 0.587000 3 17 0 0 0.009096 0 0 IGSF10 285313 broad.mit.edu 37 3 151176394 151176394 + Missense_Mutation SNP C C A rs138815446 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:151176394C>A ENST00000282466.3 - 1 103 c.104G>T c.(103-105)tGt>tTt p.C35F NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 35 LRRNT. cell differentiation|multicellular organismal development|ossification extracellular region p.C35F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGCATATAACAGGCACAGCG 0.557000 19 33 3.99206e-14 5.25271e-14 0.007413 1 0 CHD5 26038 broad.mit.edu 37 1 6169915 6169915 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:6169915G>T ENST00000262450.3 - 38 5617 c.5518C>A c.(5518-5520)Cag>Aag p.Q1840K CHD5_ENST00000378021.1_Missense_Mutation_p.Q697K NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1840 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.Q1840K(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GACAGGTGCTGGTGGCTCTCG 0.682000 52 101 2.01872e-29 3.02429e-29 0.014410 1 0 CDH8 1006 broad.mit.edu 37 16 61761041 61761041 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:61761041G>C ENST00000577390.1 - 9 2447 c.1493C>G c.(1492-1494)tCc>tGc p.S498C CDH8_ENST00000299345.6_Missense_Mutation_p.S498C|CDH8_ENST00000584337.1_Missense_Mutation_p.S498C|CDH8_ENST00000577730.1_Missense_Mutation_p.S498C NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 498 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S498C(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTCATATTCGGATGCGAATTC 0.383000 28 94 0 0 0.006320 0 0 KCNH7 90134 broad.mit.edu 37 2 163302909 163302909 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:163302909C>T ENST00000332142.5 - 7 1272 c.1173G>A c.(1171-1173)caG>caA p.Q391Q KCNH7_ENST00000328032.4_Silent_p.Q384Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 391 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.Q391Q(1)|p.Q384Q(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGCGTGGTGTCTGCAGTTTGT 0.398000 15 32 0 0 0.003163 0 0 OR6N2 81442 broad.mit.edu 37 1 158746817 158746817 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:158746817A>T ENST00000339258.1 - 1 608 c.609T>A c.(607-609)aaT>aaA p.N203K NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N203K(1) endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TTATGAAAGCATTAATGGCAA 0.393000 22 19 0 0 0.012319 0 0 ACSL1 2180 broad.mit.edu 37 4 185678833 185678833 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:185678833T>C ENST00000515030.1 - 20 2237 c.1912A>G c.(1912-1914)Atg>Gtg p.M638V ACSL1_ENST00000513317.1_Missense_Mutation_p.M638V|ACSL1_ENST00000507295.1_Missense_Mutation_p.M604V|ACSL1_ENST00000454703.2_Missense_Mutation_p.M467V|ACSL1_ENST00000437665.3_Missense_Mutation_p.M467V|ACSL1_ENST00000504342.1_Missense_Mutation_p.M638V|ACSL1_ENST00000281455.2_Missense_Mutation_p.M638V P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 638 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity p.M638V(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGTCTCACCATATCTTCGAGG 0.368000 97 92 0 0 0.014410 0 0 CDYL2 124359 broad.mit.edu 37 16 80718806 80718806 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:80718806C>G ENST00000299564.8 - 2 400 c.245G>C c.(244-246)cGa>cCa p.R82P CDYL2_ENST00000566173.1_Missense_Mutation_p.R82P|CDYL2_ENST00000563890.1_Missense_Mutation_p.R82P|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.R82P NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 82 nucleus catalytic activity|protein binding p.R82P(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CGACGGGCCTCGACTGTCACG 0.527000 8 65 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179443697 179443697 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:179443697A>T ENST00000589042.1 - 320 68284 c.68060T>A c.(68059-68061)gTg>gAg p.V22687E TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V13747E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V21046E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13622E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V13814E|TTN_ENST00000342992.6_Missense_Mutation_p.V20119E|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21046 Fibronectin type-III 65. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V20119E(1)|p.V13747E(1)|p.V13814E(1)|p.V13622E(1)|p.V20117E(1) 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) CTTGTTGTTCACAGAATCCCT 0.483000 29 51 0 0 0.005443 0 0 LILRA1 11024 broad.mit.edu 37 19 55107955 55107955 + Splice_Site SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:55107955A>G ENST00000251372.3 + 7 1442 c.1261_splice c.e7+1 p.S420_splice LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 420 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.S420S(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCATGGTCTCAGGTGAGGGCC 0.617000 49 64 0 0 0.014410 0 0 SYDE2 84144 broad.mit.edu 37 1 85647781 85647781 + Splice_Site SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:85647781C>G ENST00000341460.5 - 3 2593 c.2544_splice c.e3+1 p.Q848_splice NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 848 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity p.Q848H(1)|p.Q770H(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) AAGATAATACCTGACAGCCTC 0.323000 3 31 0 0 0.009096 0 0 LAMB4 22798 broad.mit.edu 37 7 107703285 107703285 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:107703285G>T ENST00000388781.3 - 23 3299 c.3216C>A c.(3214-3216)gtC>gtA p.V1072V LAMB4_ENST00000388780.3_Silent_p.V1072V|LAMB4_ENST00000205386.4_Silent_p.V1072V NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1072 Laminin EGF-like 11. cell adhesion basement membrane p.V1072V(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CTCTGCCAGGGACCAGATTCC 0.522000 9 33 1.12685e-05 1.25206e-05 0.004482 1 0 BNIP3P1 319138 broad.mit.edu 37 14 28734290 28734290 + RNA SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:28734290G>T ENST00000550043.1 + 0 695 GCTGGCCATCGGATTGGGGAT 0.468000 14 30 6.31663e-08 7.219e-08 0.003163 1 0 SLC20A1 6574 broad.mit.edu 37 2 113420521 113420521 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:113420521C>T ENST00000272542.3 + 11 2498 c.1959C>T c.(1957-1959)gcC>gcT p.A653A NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 653 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.A653A(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 TTTTTATGGCCTGGTTTGTCA 0.463000 41 94 0 0 0.013114 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68208794 68208794 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:68208794C>A ENST00000262215.3 - 5 900 c.511G>T c.(511-513)Gta>Tta p.V171L NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 171 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.V171L(1) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCTTGCAGTACAGTCCCTTCA 0.333000 24 62 1.10923e-09 1.33642e-09 0.002780 1 0 IFNA4 3441 broad.mit.edu 37 9 21187301 21187301 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:21187301A>T ENST00000421715.1 - 1 297 c.230T>A c.(229-231)aTc>aAc p.I77N NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 77 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.I77N(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GAGGACAGAGATGGCTTGAGC 0.493000 10 229 0 0 0.013537 0 0 F2R 2149 broad.mit.edu 37 5 76029084 76029084 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:76029084C>A ENST00000319211.4 + 2 1299 c.1034C>A c.(1033-1035)aCc>aAc p.T345N NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 345 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity p.T345N(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) CACACTTCCACCACAGAGGCT 0.493000 32 91 2.81731e-10 3.43575e-10 0.010818 1 0 RTN4IP1 84816 broad.mit.edu 37 6 107035708 107035708 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:107035708C>A ENST00000369063.3 - 7 1301 c.836G>T c.(835-837)gGa>gTa p.G279V RTN4IP1_ENST00000539449.1_Intron NM_032730.4 NP_116119.2 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 279 mitochondrion oxidoreductase activity|zinc ion binding p.G279V(1) breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) TTCAGTGGATCCGCCAACATT 0.463000 16 14 1.15088e-07 1.30782e-07 0.004007 1 0 SYT3 84258 broad.mit.edu 37 19 51128750 51128750 + Missense_Mutation SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:51128750T>A ENST00000338916.4 - 6 2107 c.1474A>T c.(1474-1476)Aac>Tac p.N492Y SYT3_ENST00000600079.1_Missense_Mutation_p.N492Y|SYT3_ENST00000593901.1_Missense_Mutation_p.N492Y|SYT3_ENST00000544769.1_Missense_Mutation_p.N492Y NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 492 C2 2. cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.N492Y(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TTCAGCGTGTTCTTCTTGATG 0.582000 11 16 0 0 0.010729 0 0 EGFLAM 133584 broad.mit.edu 37 5 38448410 38448410 + Silent SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:38448410A>T ENST00000322350.5 + 18 2818 c.2472A>T c.(2470-2472)atA>atT p.I824I EGFLAM_ENST00000354891.3_Silent_p.I832I|EGFLAM_ENST00000397202.2_Silent_p.I190I|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.I590I|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000506135.1_5'UTR NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 832 cell junction|proteinaceous extracellular matrix|synapse p.I832I(1)|p.I824I(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CAGCGATCATAGAAGCCATTG 0.483000 50 205 0 0 0.014410 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38647260 38647260 + RNA SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr10:38647260G>C ENST00000494540.1 + 0 131 NR_003086.1 CTGGCCCTCTGCAAGCGGCTG 0.537000 9 12 0 0 0.006214 0 0 PAFAH1B2 5049 broad.mit.edu 37 11 117038152 117038152 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:117038152G>T ENST00000527958.1 + 6 586 c.427G>T c.(427-429)Ggt>Tgt p.G143C PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000419197.2_Intron NM_002572.3 NP_002563.1 P68402 PA1B2_HUMAN platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) 143 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity p.G143C(1) kidney(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111) GTTACCTCGAGGTGAGAAACC 0.433000 T IGH@ MLCLS 29 26 1.06801e-11 1.35191e-11 0.009535 1 0 PRR23C 389152 broad.mit.edu 37 3 138763205 138763205 + Silent SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:138763205C>G ENST00000413199.1 - 1 529 c.258G>C c.(256-258)tcG>tcC p.S86S MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.S86S NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 86 p.S86S(1) breast(2)|lung(7)|skin(2) 11 CTCGCAGGACCGACATTGGCG 0.667000 2 4 0 0 0.004672 0 0 CNKSR2 22866 broad.mit.edu 37 X 21624935 21624935 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:21624935C>T ENST00000425654.2 + 18 2473 c.1993C>T c.(1993-1995)Cca>Tca p.P665S CNKSR2_ENST00000543067.1_Missense_Mutation_p.P646S|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P695S|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P695S NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 695 PH. regulation of signal transduction cytoplasm|membrane protein binding p.P695S(1) breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AGCAGATACTCCATCAACACC 0.413000 24 18 0 0 0.006320 0 0 MUC16 94025 broad.mit.edu 37 19 9087924 9087924 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:9087924C>A ENST00000397910.4 - 1 4094 c.3891G>T c.(3889-3891)atG>atT p.M1297I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1297 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.M1297I(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGAGTAAGCCATTCTGGCTG 0.493000 101 76 3.39216e-54 5.23886e-54 0.014410 1 0 OXSR1 9943 broad.mit.edu 37 3 38287589 38287589 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:38287589G>T ENST00000311806.3 + 13 1506 c.1134G>T c.(1132-1134)gtG>gtT p.V378V OXSR1_ENST00000446845.1_Silent_p.V378V NM_005109.2 NP_005100.1 O95747 OXSR1_HUMAN oxidative stress responsive 1 378 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity p.V378V(1) skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTGATCCTGTGGGTACTTTGC 0.502000 46 52 2.01872e-29 3.02429e-29 0.014410 1 0 IREB2 3658 broad.mit.edu 37 15 78730689 78730689 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:78730689C>A ENST00000258886.8 + 1 159 c.10C>A c.(10-12)Cca>Aca p.P4T IREB2_ENST00000560440.1_Missense_Mutation_p.P4T NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 4 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding p.P4T(1) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GATGGACGCCCCAAAAGCAGG 0.657000 3 11 0.004672 0.00487937 0.004672 1 0 AKT2 208 broad.mit.edu 37 19 40740980 40740980 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:40740980C>A ENST00000392038.2 - 13 1636 c.1338G>T c.(1336-1338)caG>caT p.Q446H AKT2_ENST00000311278.6_Missense_Mutation_p.Q403H|AKT2_ENST00000579047.1_Missense_Mutation_p.Q384H|AKT2_ENST00000424901.1_Missense_Mutation_p.Q446H NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 446 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.Q446H(1) breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) TTGTGATGGACTGGGCGGTAA 0.607000 A """ovarian, pancreatic """ 11 57 3.86212e-05 4.2209e-05 0.008291 1 0 ROS1 6098 broad.mit.edu 37 6 117629963 117629963 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:117629963T>C ENST00000368508.3 - 41 6761 c.6563A>G c.(6562-6564)gAt>gGt p.D2188G ROS1_ENST00000368507.3_Missense_Mutation_p.D2182G NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2188 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.D2188G(2) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTACAGATCATCAGGACAATT 0.368000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 23 16 0 0 0.003954 0 0 FSHR 2492 broad.mit.edu 37 2 49210068 49210068 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:49210068G>T ENST00000406846.2 - 8 770 c.651C>A c.(649-651)gcC>gcA p.A217A FSHR_ENST00000304421.4_Silent_p.A191A|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Silent_p.A217A|FSHR_ENST00000541117.1_5'UTR NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 217 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.A217A(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CTGGTCCAGAGGCTCCGTGGA 0.433000 Gonadal Dysgenesis, 46 XX 7 32 0.000274275 0.000294129 0.004482 1 0 NPHS1 4868 broad.mit.edu 37 19 36336695 36336695 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:36336695G>C ENST00000378910.5 - 13 1632 c.1633C>G c.(1633-1635)Cca>Gca p.P545A NPHS1_ENST00000353632.6_Missense_Mutation_p.P545A NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 545 Ig-like C2-type 6. cell adhesion|excretion|muscle organ development integral to plasma membrane p.P545A(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACGTTAGTTGGGGGAACTGGG 0.652000 6 40 0 0 0.004482 0 0 PEX2 5828 broad.mit.edu 37 8 77895569 77895569 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:77895569C>A ENST00000419564.2 - 4 1310 c.846G>T c.(844-846)aaG>aaT p.K282N PEX2_ENST00000357039.4_Missense_Mutation_p.K282N|PEX2_ENST00000520103.1_Missense_Mutation_p.K282N|PEX2_ENST00000522527.1_Missense_Mutation_p.K282N NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 282 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding p.K282N(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 CTGTGCCACACTTAGGACAAG 0.403000 56 132 6.4308e-24 9.45706e-24 0.014410 1 0 KCNA1 3736 broad.mit.edu 37 12 5020916 5020916 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:5020916G>A ENST00000382545.3 + 2 1479 c.372G>A c.(370-372)gaG>gaA p.E124E KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 124 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity p.E124E(1) NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGTTGGGCGAGGAGGCCATGG 0.627000 18 48 0 0 0.004990 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110460608 110460608 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:110460608A>T ENST00000378402.5 + 39 6117 c.6013A>T c.(6013-6015)Aat>Tat p.N2005Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2005 IPT/TIG 13. immune response cytosol|extracellular space|integral to membrane receptor activity p.N2007Y(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCAAAATATTAATCCAAGCCA 0.348000 HNSCC(38;0.096) 14 21 0 0 0.001855 0 0 PLA2G7 7941 broad.mit.edu 37 6 46684773 46684773 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:46684773G>A ENST00000274793.7 - 3 366 c.170C>T c.(169-171)cCc>cTc p.P57L PLA2G7_ENST00000537365.1_Missense_Mutation_p.P57L|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Missense_Mutation_p.P12L NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 57 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding p.P57L(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) ATTTCCCCGGGGGATTTTAGT 0.373000 26 94 0 0 0.004656 0 0 CLPX 10845 broad.mit.edu 37 15 65447222 65447222 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:65447222C>T ENST00000300107.3 - 11 1697 c.1509G>A c.(1507-1509)gtG>gtA p.V503V NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 503 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding p.V503V(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 GCAATGGAACCACCACAGGCA 0.428000 28 67 0 0 0.005443 0 0 HPS4 89781 broad.mit.edu 37 22 26859974 26859974 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr22:26859974A>T ENST00000398145.2 - 11 2238 c.1622T>A c.(1621-1623)aTg>aAg p.M541K HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Missense_Mutation_p.M554K|HPS4_ENST00000402105.3_Missense_Mutation_p.M536K|HPS4_ENST00000336873.5_Missense_Mutation_p.M541K NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 541 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity p.M541K(1)|p.M554K(1) breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 GTAGAGATTCATCCTCACGAG 0.597000 Hermansky-Pudlak syndrome 11 36 0 0 0.010729 0 0 TLR6 10333 broad.mit.edu 37 4 38829311 38829311 + Missense_Mutation SNP A A C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:38829311A>C ENST00000436693.2 - 2 1903 c.1784T>G c.(1783-1785)aTg>aGg p.M595R TLR6_ENST00000381950.1_Missense_Mutation_p.M595R NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 595 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.M595R(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAACACCAGCATGGTGGCACC 0.532000 11 91 0 0 0.001855 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52000177 52000177 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:52000177G>T ENST00000291707.3 - 7 1611 c.1556C>A c.(1555-1557)aCa>aAa p.T519K SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T401K NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 519 cell adhesion integral to membrane sugar binding p.T519K(1) NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CTCCATGCCTGTATCCCCCAC 0.592000 36 59 2.87052e-16 3.94573e-16 0.005524 1 0 VPS28 51160 broad.mit.edu 37 8 145651592 145651592 + Splice_Site SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:145651592C>A ENST00000377348.2 - 3 127 c.e3-1 VPS28_ENST00000526734.1_Splice_Site|VPS28_ENST00000526054.1_Splice_Site|VPS28_ENST00000529182.1_Splice_Site|VPS28_ENST00000292510.4_Splice_Site NM_183057.1 NP_898880.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding p.?(2) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TTCCCAGGGGCTGCAAGAGAA 0.632000 12 9 4.14922e-12 5.31951e-12 0.004007 1 0 MMP13 4322 broad.mit.edu 37 11 102825237 102825237 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:102825237G>T ENST00000260302.3 - 3 489 c.461C>A c.(460-462)aCc>aAc p.T154N MMP13_ENST00000340273.4_Missense_Mutation_p.T154N NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 154 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.T154N(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTGAAGTCTGGTAAAATTCAG 0.348000 25 41 1.42536e-11 1.78728e-11 0.004656 1 0 KRT72 140807 broad.mit.edu 37 12 52986255 52986255 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:52986255C>A ENST00000293745.2 - 4 808 c.723G>T c.(721-723)atG>atT p.M241I KRT72_ENST00000537672.2_Missense_Mutation_p.M241I|KRT72_ENST00000354310.4_Missense_Mutation_p.M241I|KRT72_ENST00000398066.3_Missense_Mutation_p.M53I NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 241 Coil 1B.|Rod. keratin filament structural molecule activity p.M241I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) CAACCTTATTCATGTAAGCAG 0.542000 27 41 7.26314e-15 9.71658e-15 0.007291 1 0 ZCCHC2 54877 broad.mit.edu 37 18 60241328 60241328 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr18:60241328A>G ENST00000269499.5 + 13 2432 c.2014A>G c.(2014-2016)Aca>Gca p.T672A ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T351A NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 672 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding p.T672A(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GAATCCATCAACAACTAGGTT 0.398000 33 84 0 0 0.009535 0 0 CORO2B 10391 broad.mit.edu 37 15 69006317 69006317 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:69006317G>T ENST00000543950.1 + 6 1041 c.687G>T c.(685-687)atG>atT p.M229I CORO2B_ENST00000566799.1_Missense_Mutation_p.M234I|CORO2B_ENST00000540068.1_Missense_Mutation_p.M229I|CORO2B_ENST00000261861.5_Missense_Mutation_p.M229I NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 234 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding p.M234I(1) kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGGGGAACATGAAGCGGCTCC 0.597000 21 22 2.4624e-09 2.92273e-09 0.008871 1 0 ZC3H13 23091 broad.mit.edu 37 13 46543169 46543169 + Silent SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr13:46543169C>A ENST00000242848.4 - 14 3858 c.3510G>T c.(3508-3510)acG>acT p.T1170T ZC3H13_ENST00000378921.2_Silent_p.T126T|ZC3H13_ENST00000282007.3_Silent_p.T1170T Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1170 nucleic acid binding|zinc ion binding p.T1170T(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCACGTGAGGCGTCTCTACTT 0.483000 73 75 3.4779e-39 5.33011e-39 0.014410 1 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 3 1 0.00448238 0.00469359 0.004482 1 0 LRRTM3 347731 broad.mit.edu 37 10 68688212 68688212 + Splice_Site SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr10:68688212T>C ENST00000361320.4 + 2 2114 c.e2+2 CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 integral to membrane p.?(2) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 GAGTGTGAGGTATGAACCATT 0.493000 17 33 0 0 0.004007 0 0 GLT1D1 144423 broad.mit.edu 37 12 129360514 129360514 + Nonsense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:129360514G>T ENST00000442111.2 + 2 212 c.124G>T c.(124-126)Gaa>Taa p.E42* GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.E31*|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.E42* Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 42 biosynthetic process extracellular region transferase activity, transferring glycosyl groups p.E42*(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CTTTGACTTTGAAAGCCGATC 0.488000 22 238 1.10513e-12 1.43524e-12 0.014323 1 0 LELP1 149018 broad.mit.edu 37 1 153177438 153177438 + Silent SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:153177438C>G ENST00000368747.1 + 2 365 c.255C>G c.(253-255)tcC>tcG p.S85S NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 85 Cys/Pro-rich. p.S85S(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCCTTCATCCTGCCCACATG 0.642000 7 41 0 0 0.001984 0 0 ACTC1 70 broad.mit.edu 37 15 35086936 35086936 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:35086936C>A ENST00000290378.4 - 2 729 c.74G>T c.(73-75)gGc>gTc p.G25V RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 25 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding p.G25V(1) central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CGCGTCATCGCCCGCAAAGCC 0.687000 33 43 3.03874e-20 4.32561e-20 0.003271 1 0 SKIL 6498 broad.mit.edu 37 3 170108188 170108188 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:170108188G>T ENST00000458537.3 + 4 2316 c.1607G>T c.(1606-1608)aGa>aTa p.R536I SKIL_ENST00000413427.2_Missense_Mutation_p.R490I|SKIL_ENST00000426052.2_Missense_Mutation_p.R516I|SKIL_ENST00000259119.4_Missense_Mutation_p.R536I NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 536 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity p.R536I(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GAAGTAATGAGAACTTATTTA 0.343000 13 30 1.5842e-08 1.84209e-08 0.001855 1 0 ZDHHC19 131540 broad.mit.edu 37 3 195937568 195937568 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:195937568C>A ENST00000296326.3 - 2 266 c.187G>T c.(187-189)Gtt>Ttt p.V63F ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 63 integral to membrane acyltransferase activity|zinc ion binding p.V63F(1) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) CCTGTGATAACAGGAAAGGCC 0.587000 6 25 3.59834e-05 3.94338e-05 0.001168 1 0 KIAA1551 55196 broad.mit.edu 37 12 32134697 32134697 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:32134697G>A ENST00000312561.4 + 4 1222 c.808G>A c.(808-810)Gcc>Acc p.A270T KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 p.A270T(1) ACAGCAGTATGCCACGCAAAC 0.398000 52 66 0 0 0.014410 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25749242 25749242 + RNA SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:25749242G>T ENST00000586223.1 + 0 1143 NR_033892.1 GAACATTCAGGAAATCAAGAT 0.493000 25 25 2.44723e-14 3.24137e-14 0.004656 1 0 CAPN2 824 broad.mit.edu 37 1 223959907 223959907 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:223959907A>G ENST00000295006.5 + 20 2354 c.2045A>G c.(2044-2046)gAg>gGg p.E682G CAPN2_ENST00000433674.2_Missense_Mutation_p.E604G|CAPN2_ENST00000474026.1_3'UTR NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 682 Domain IV.|EF-hand 3. proteolysis cytoplasm|plasma membrane p.E682G(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) CTGGATCCCGAGAATACTGGA 0.502000 64 70 0 0 0.014410 0 0 MROH2B 133558 broad.mit.edu 37 5 41055876 41055876 + Nonsense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:41055876A>T ENST00000399564.4 - 10 1451 c.1001T>A c.(1000-1002)tTg>tAg p.L334* MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.L334*(1) TAACAAAGTCAAGATTCCCAC 0.423000 4 160 0 0 0.000602 0 0 MERTK 10461 broad.mit.edu 37 2 112767591 112767591 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:112767591A>G ENST00000295408.4 + 15 2284 c.2027A>G c.(2026-2028)tAc>tGc p.Y676C MERTK_ENST00000421804.2_Missense_Mutation_p.Y676C|MERTK_ENST00000409780.1_Missense_Mutation_p.Y500C Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 676 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity p.Y676C(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TTCATGAAATACGGGGACCTG 0.423000 48 103 0 0 0.014410 0 0 GRIP1 23426 broad.mit.edu 37 12 66788002 66788002 + Silent SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:66788002C>G ENST00000359742.4 - 17 2355 c.2115G>C c.(2113-2115)ggG>ggC p.G705G GRIP1_ENST00000286445.7_Silent_p.G705G|GRIP1_ENST00000398016.3_Silent_p.G653G Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 705 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity p.G653G(1) NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CAGCTAATCCCCCTTTAGTGA 0.448000 6 538 0 0 0.001984 0 0 SYT10 341359 broad.mit.edu 37 12 33560221 33560221 + Nonsense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:33560221C>A ENST00000228567.3 - 3 876 c.580G>T c.(580-582)Gaa>Taa p.E194* SYT10_ENST00000535526.1_Nonsense_Mutation_p.E13* NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 194 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.E194*(2) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) AAAACAGGTTCTGTGCCCATG 0.448000 42 83 6.48837e-15 8.73854e-15 0.010771 1 0 CDH10 1008 broad.mit.edu 37 5 24488183 24488183 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:24488183G>T ENST00000264463.4 - 12 2463 c.1956C>A c.(1954-1956)gaC>gaA p.D652E CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 652 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D652E(1) 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) TCACAATGTTGTCTCTGATAT 0.433000 HNSCC(23;0.051) 21 46 1.50039e-11 1.86965e-11 0.012319 1 0 TPR 7175 broad.mit.edu 37 1 186315293 186315293 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:186315293T>C ENST00000367478.3 - 23 3366 c.3070A>G c.(3070-3072)Aga>Gga p.R1024G NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1024 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.R1024G(1)|p.R1025G(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TCTATGGCTCTTCTTTTATCA 0.328000 T NTRK1 papillary thyroid 12 80 0 0 0.001855 0 0 DYTN 391475 broad.mit.edu 37 2 207527633 207527633 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:207527633G>A ENST00000452335.2 - 11 1743 c.1627C>T c.(1627-1629)Cca>Tca p.P543S NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 543 plasma membrane zinc ion binding p.P543S(2) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTACCTGATGGCGTTTCTAGA 0.418000 50 283 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179568920 179568920 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:179568920G>T ENST00000589042.1 - 106 30401 c.30177C>A c.(30175-30177)acC>acA p.T10059T TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.T9742T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T8815T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9742 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T8815T(1) 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) CATATTTGCAGGTGTACTGAC 0.438000 28 177 7.68411e-24 1.12588e-23 0.008361 1 0 TRIM48 79097 broad.mit.edu 37 11 55032470 55032470 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:55032470G>T ENST00000417545.2 + 2 225 c.139G>T c.(139-141)Ggg>Tgg p.G47W NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 31 intracellular zinc ion binding p.G47W(1)|p.G31W(1) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CATAGACTGTGGGCACAGCTT 0.473000 37 163 3.62531e-18 5.05269e-18 0.004289 1 0 ROCK2 9475 broad.mit.edu 37 2 11332366 11332366 + Silent SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:11332366A>G ENST00000315872.6 - 32 4519 c.4071T>C c.(4069-4071)ccT>ccC p.P1357P ROCK2_ENST00000401753.1_Silent_p.P1114P NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1357 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity p.P1357P(2) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) ATCGGGCAAAAGGGTCTGGAG 0.433000 5 335 0 0 0.001168 0 0 NPAP1 23742 broad.mit.edu 37 15 24923531 24923531 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:24923531C>T ENST00000329468.2 + 1 2991 c.2517C>T c.(2515-2517)acC>acT p.T839T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.T839T(1) TGCAGTCTACCTTTGTCTCCA 0.502000 26 91 0 0 0.004656 0 0 ACKR3 57007 broad.mit.edu 37 2 237489646 237489646 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:237489646A>G ENST00000272928.3 + 2 848 c.538A>G c.(538-540)Acc>Gcc p.T180A NM_020311.2 NP_064707.1 atypical chemokine receptor 3 p.T180A(1) TCTGCCTGACACCTACTACCT 0.582000 6 137 0 0 0.001984 0 0 SEPT10 151011 broad.mit.edu 37 2 110332300 110332300 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:110332300T>C ENST00000356688.4 - 5 773 c.458A>G c.(457-459)tAt>tGt p.Y153C SEPT10_ENST00000415095.1_Missense_Mutation_p.Y153C|SEPT10_ENST00000334001.6_Missense_Mutation_p.Y20C|SEPT10_ENST00000397712.2_Missense_Mutation_p.Y153C|SEPT10_ENST00000397714.2_Missense_Mutation_p.Y130C|SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000437928.1_Missense_Mutation_p.Y138C Q9P0V9 SEP10_HUMAN septin 10 153 cell cycle|cell division septin complex GTP binding p.Y153C(1)|p.Y130C(1) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 TTCTTGGAGATAGGCCTCAAA 0.378000 41 59 0 0 0.008740 0 0 MDC1 9656 broad.mit.edu 37 6 30676135 30676135 + Splice_Site SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:30676135C>A ENST00000376406.3 - 8 2869 c.e8-1 MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding p.?(1) breast(2)|kidney(1)|ovary(1) 4 TCTAGGGTACCTGgaagggga 0.512000 Other conserved DNA damage response genes 27 20 3.28513e-13 4.30836e-13 0.003954 1 0 SUMF1 285362 broad.mit.edu 37 3 4458925 4458925 + Splice_Site SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:4458925G>C ENST00000272902.5 - 6 762 c.725_splice c.e6-1 p.L243_splice SUMF1_ENST00000534863.1_Splice_Site_p.L243_splice|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000383843.5_Splice_Site_p.L218_splice|SUMF1_ENST00000405420.2_Splice_Site_p.L243_splice NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 243 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity p.L243V(1) breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) CAGGGGAAAAGTCTGTCAGAA 0.498000 46 41 0 0 0.010771 0 0 OBSCN 84033 broad.mit.edu 37 1 228504513 228504513 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:228504513G>T ENST00000570156.2 + 62 16334 c.16260G>T c.(16258-16260)gaG>gaT p.E5420D OBSCN_ENST00000366709.4_Missense_Mutation_p.E1582D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4463D|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4463D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2097D NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4463 Ig-like 51. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.E4463D(1)|p.E5175D(1)|p.E5045D(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCGTGGGAGAGGCGTCCTGGT 0.692000 5 19 0.000602214 0.000640654 0.000602 1 0 ZNF431 170959 broad.mit.edu 37 19 21366255 21366255 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:21366255G>T ENST00000311048.7 + 5 1293 c.1149G>T c.(1147-1149)tgG>tgT p.W383C ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.W383F(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 GCTTTAATTGGTCCTCAACCC 0.343000 15 21 1.49906e-05 1.65186e-05 0.002450 1 0 ZFP91 80829 broad.mit.edu 37 11 58380279 58380279 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:58380279G>T ENST00000316059.6 + 8 1124 c.953G>T c.(952-954)tGt>tTt p.C318F ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.C318F NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 318 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding p.C318F(2) cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ATGGAAGGATGTGGAACTGTC 0.408000 20 90 5.45024e-15 7.41529e-15 0.003330 1 0 ADA 100 broad.mit.edu 37 20 43249676 43249676 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr20:43249676C>T ENST00000372874.4 - 10 1092 c.958G>A c.(958-960)Gag>Aag p.E320K ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Missense_Mutation_p.E296K|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 320 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding p.E320K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) TTAAACTCCTCTTCAGTAAAG 0.522000 Adenosine Deaminase Deficiency 70 44 0 0 0.014410 0 0 DNAJB11 51726 broad.mit.edu 37 3 186299186 186299186 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:186299186G>A ENST00000439351.1 + 6 1412 c.483G>A c.(481-483)agG>agA p.R161R DNAJB11_ENST00000265028.3_Silent_p.R161R Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 161 protein folding endoplasmic reticulum lumen heat shock protein binding p.R161R(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) CTGTGGCAAGGCAGGCTCCTG 0.522000 25 87 0 0 0.003954 0 0 STAB2 55576 broad.mit.edu 37 12 104149163 104149163 + Silent SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:104149163C>G ENST00000388887.2 + 62 7002 c.6798C>G c.(6796-6798)ggC>ggG p.G2266G RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2266 Link. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.G2266G(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGAACTGTGGCTCTGGTGTGG 0.572000 41 125 0 0 0.009718 0 0 ARID1A 8289 broad.mit.edu 37 1 27089625 27089625 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:27089625G>C ENST00000324856.7 + 8 2952 c.2581G>C c.(2581-2583)Gcc>Ccc p.A861P ARID1A_ENST00000457599.2_Missense_Mutation_p.A861P|ARID1A_ENST00000374152.2_Missense_Mutation_p.A478P NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 861 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.A861P(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GATGAGTCACGCCTCCATGGG 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 4 50 0 0 0.003163 0 0 TTC17 55761 broad.mit.edu 37 11 43511885 43511885 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:43511885C>T ENST00000039989.4 + 22 3141 c.3127C>T c.(3127-3129)Cac>Tac p.H1043Y NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1043 binding p.H1043Y(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CCAGGCTCTGCACTATGCGCC 0.562000 21 57 0 0 0.010504 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166206 140166206 + Missense_Mutation SNP G G A rs148838866 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:140166206G>A ENST00000504120.2 + 1 331 c.331G>A c.(331-333)Gac>Aac p.D111N PCDHA1_ENST00000394633.3_Missense_Mutation_p.D111N|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D111N NM_018900.2 NP_061723.1 p.D111N(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGATCGCCGACAGGCCGCT 0.498000 83 83 0 0 0.014410 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542094 133542094 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:133542094C>A ENST00000409261.1 - 14 2663 c.2290G>T c.(2290-2292)Gtg>Ttg p.V764L NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V764L NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 764 protein binding p.V764L(1) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTTTGTGTCACTGTCCTGGAG 0.418000 16 89 0.00498961 0.00519751 0.004990 1 0 PCDHB18P 54660 broad.mit.edu 37 5 140616204 140616204 + RNA SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:140616204C>A ENST00000526308.1 + 0 2267 NR_001281.1 p.A640E(1) endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CTGGTGGTGGCGTTGGCCTCG 0.682000 74 113 1.08321e-29 1.63503e-29 0.014410 1 0 LCT 3938 broad.mit.edu 37 2 136564899 136564899 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:136564899C>A ENST00000264162.2 - 9 3982 c.3972G>T c.(3970-3972)tgG>tgT p.W1324C NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1324 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.W1324C(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCCATTTAGCCACTCAAAGT 0.527000 41 49 4.14481e-20 5.85839e-20 0.006230 1 0 SCIN 85477 broad.mit.edu 37 7 12683870 12683870 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:12683870G>A ENST00000297029.5 + 12 1790 c.1689G>A c.(1687-1689)gaG>gaA p.E563E SCIN_ENST00000445618.2_Silent_p.E316E|SCIN_ENST00000519209.1_Silent_p.E316E NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 563 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding p.E563E(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) AGGAGGAGGAGAAAGGAGCAG 0.473000 5 21 0 0 0.000602 0 0 MGAT5 4249 broad.mit.edu 37 2 135027974 135027974 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:135027974G>C ENST00000409645.1 + 3 511 c.259G>C c.(259-261)Gct>Cct p.A87P MGAT5_ENST00000281923.2_Missense_Mutation_p.A87P Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 87 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity p.A87P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) GAAAACCCTTGCTGTGTTATT 0.418000 5 69 0 0 0.001984 0 0 CYP19A1 1588 broad.mit.edu 37 15 51535050 51535050 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:51535050G>A ENST00000396402.1 - 2 213 c.60C>T c.(58-60)gcC>gcT p.A20A CYP19A1_ENST00000559878.1_Silent_p.A20A|CYP19A1_ENST00000396404.4_Silent_p.A20A|CYP19A1_ENST00000405913.3_Silent_p.A20A|CYP19A1_ENST00000260433.2_Silent_p.A20A|CYP19A1_ENST00000557858.1_Silent_p.A20A|RP11-108K3.1_ENST00000559909.1_lincRNA NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 20 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity p.A20A(1) endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) CAGCAGGCATGGCTTCAGGCA 0.488000 58 79 0 0 0.014410 0 0 PARP4 143 broad.mit.edu 37 13 25017845 25017845 + Silent SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr13:25017845T>A ENST00000381989.3 - 28 3495 c.3390A>T c.(3388-3390)cgA>cgT p.R1130R NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1130 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity p.R1130R(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TGATTAGAGCTCGGGCTGCCA 0.343000 87 57 0 0 0.014410 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39703403 39703403 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:39703403C>T ENST00000553728.1 + 1 298 c.85C>T c.(85-87)Ctt>Ttt p.L29F MIA2_ENST00000280082.3_Missense_Mutation_p.L29F|MIA2_ENST00000556784.1_Missense_Mutation_p.L29F p.L29F(1) GCTGGCAGACCTTAAAAAATG 0.423000 10 40 0 0 0.008291 0 0 DCX 1641 broad.mit.edu 37 X 110653618 110653618 + Silent SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:110653618A>G ENST00000338081.3 - 2 423 c.252T>C c.(250-252)ctT>ctC p.L84L DCX_ENST00000356915.2_Silent_p.L3L|DCX_ENST00000371993.2_Silent_p.L3L|DCX_ENST00000488120.1_Silent_p.L3L|DCX_ENST00000356220.3_Silent_p.L3L|DCX_ENST00000496551.1_5'UTR NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 84 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding p.L3L(1)|p.L84L(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GTCCAAAATCAAGTTCCATAT 0.498000 3 68 0 0 0.004672 0 0 FOXN1 8456 broad.mit.edu 37 17 26864298 26864298 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:26864298G>A ENST00000226247.2 + 8 1820 c.1791G>A c.(1789-1791)ttG>ttA p.L597L FOXN1_ENST00000579795.1_Silent_p.L597L NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 597 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.L597L(1) endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CAGGTGACTTGGCAGCCCCGG 0.672000 6 50 0 0 0.001168 0 0 OR8B2 26595 broad.mit.edu 37 11 124253209 124253209 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:124253209C>G ENST00000375013.2 - 1 49 c.31G>C c.(31-33)Gaa>Caa p.E11Q NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E11Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGAATAAATTCAGTCACTAAG 0.373000 15 100 0 0 0.008871 0 0 ZNF391 346157 broad.mit.edu 37 6 27368575 27368575 + Silent SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:27368575T>C ENST00000244576.4 + 3 971 c.426T>C c.(424-426)tgT>tgC p.C142C NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C142C(2) endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 GCAACAAATGTGGGAAATCTT 0.378000 21 118 0 0 0.010504 0 0 MED28 80306 broad.mit.edu 37 4 17616296 17616296 + Missense_Mutation SNP G G T rs10028056 byFrequency TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:17616296G>T ENST00000237380.6 + 1 43 c.19G>T c.(19-21)Ggt>Tgt p.G7C NM_025205.3 NP_079481.2 Q9H204 MED28_HUMAN mediator complex subunit 28 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding p.G7C(1) lung(6)|skin(2) 8 TCCACTAGGGGGTATGTTTTC 0.652000 13 57 1.5842e-08 1.84209e-08 0.001855 1 0 GATA5 140628 broad.mit.edu 37 20 61040522 61040522 + Splice_Site SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr20:61040522T>A ENST00000252997.2 - 6 975 c.e6-2 NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.?(1) kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) TTGTGGATCCTGGAAGCGAAG 0.627000 36 44 0 0 0.006230 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:42301736G>A ENST00000357396.3 + 2 521 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 94 Ig-like V-type. integral to membrane p.A94T(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGGGCCGCATACAGCGG 0.463000 5 273 0 0 0.001168 0 0 SYT3 84258 broad.mit.edu 37 19 51135967 51135967 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:51135967G>T ENST00000338916.4 - 2 883 c.250C>A c.(250-252)Cgg>Agg p.R84R SYT3_ENST00000600079.1_Silent_p.R84R|SYT3_ENST00000593901.1_Silent_p.R84R|SYT3_ENST00000544769.1_Silent_p.R84R NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 84 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.R84R(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCCTTGTCCCGCCAGGGCACC 0.652000 34 41 6.05902e-23 8.78119e-23 0.003755 1 0 GPR64 10149 broad.mit.edu 37 X 19031915 19031915 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:19031915G>C ENST00000354791.3 - 15 1181 c.940C>G c.(940-942)Ccc>Gcc p.P314A GPR64_ENST00000360279.4_Missense_Mutation_p.P308A|GPR64_ENST00000379878.3_Missense_Mutation_p.P314A|GPR64_ENST00000356606.4_Missense_Mutation_p.P316A|GPR64_ENST00000379869.3_Missense_Mutation_p.P330A|GPR64_ENST00000379873.2_Missense_Mutation_p.P330A|GPR64_ENST00000379876.1_Missense_Mutation_p.P306A|GPR64_ENST00000340581.3_Missense_Mutation_p.P300A|GPR64_ENST00000357991.3_Missense_Mutation_p.P327A|GPR64_ENST00000357544.3_Missense_Mutation_p.P300A Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 330 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity p.P327A(1) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TGGGTTTGGGGCATAGGGGAA 0.582000 69 30 0 0 0.014410 0 0 ZNF678 339500 broad.mit.edu 37 1 227842427 227842427 + Missense_Mutation SNP G G T rs145397350 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:227842427G>T ENST00000343776.4 + 4 821 c.476G>T c.(475-477)gGc>gTc p.G159V ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.G214V F5GXA7 F5GXA7_HUMAN zinc finger protein 678 214 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.G214V(1)|p.G159V(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) GACGAATGTGGCAAAGTTTTT 0.333000 25 135 7.92952e-12 1.00692e-11 0.003954 1 0 CDC45 8318 broad.mit.edu 37 22 19471469 19471469 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr22:19471469C>T ENST00000407835.1 + 6 683 c.427C>T c.(427-429)Cat>Tat p.H143Y CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.H143Y|CDC45_ENST00000404724.3_Missense_Mutation_p.H97Y|CDC45_ENST00000437685.2_Missense_Mutation_p.H143Y O75419 CDC45_HUMAN cell division cycle 45 143 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding p.H143Y(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 GGATGAAGAGCATTCAGGAAA 0.443000 39 23 0 0 0.004878 0 0 PHLPP2 23035 broad.mit.edu 37 16 71710350 71710350 + Splice_Site SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:71710350T>A ENST00000393524.2 - 8 2204 c.1471_splice c.e8+1 p.R491_splice PHLPP2_ENST00000567016.1_Splice_Site_p.R526_splice|PHLPP2_ENST00000356272.3_Splice_Site_p.R491_splice|PHLPP2_ENST00000568954.1_Splice_Site_p.R491_splice|PHLPP2_ENST00000360429.3_Splice_Site_p.R491_splice Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 491 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity p.R491W(1) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GAAAACTCACTGTTGGAACTG 0.512000 18 25 0 0 0.007413 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12888465 12888465 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:12888465G>T ENST00000535591.1 - 2 254 c.59C>A c.(58-60)cCc>cAc p.P20H NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 20 p.P20H(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GCGGCGGAAGGGCCAGGCCTG 0.607000 27 97 1.39806e-14 1.85788e-14 0.008361 1 0 MYO1D 4642 broad.mit.edu 37 17 31048075 31048075 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:31048075C>A ENST00000318217.5 - 15 2183 c.1879G>T c.(1879-1881)Gcc>Tcc p.A627S MYO1D_ENST00000579584.1_Missense_Mutation_p.A627S|MYO1D_ENST00000394649.4_Missense_Mutation_p.A539S NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 627 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding p.A627S(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) TGGCGGAAGGCAAATCCTGCC 0.473000 82 89 2.97807e-44 4.58165e-44 0.014410 1 0 EXOC6B 23233 broad.mit.edu 37 2 72562101 72562101 + Missense_Mutation SNP T T A rs111624023 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:72562101T>A ENST00000272427.6 - 20 2301 c.2171A>T c.(2170-2172)cAg>cTg p.Q724L EXOC6B_ENST00000490919.1_5'UTR NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 724 protein transport|vesicle docking involved in exocytosis exocyst p.Q724L(1)|p.Q261L(1) breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 GAAGGCCAACTGCAGCGTGTC 0.453000 51 87 0 0 0.014410 0 0 PDK2 5164 broad.mit.edu 37 17 48186727 48186727 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:48186727T>C ENST00000503176.1 + 10 1207 c.1046T>C c.(1045-1047)aTg>aCg p.M349T PDK2_ENST00000007708.3_Missense_Mutation_p.M285T NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 349 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.M349T(1) central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 CTCTTCTCCATGGAAGGCTTT 0.597000 Autosomal Dominant Polycystic Kidney Disease 9 35 0 0 0.004482 0 0 BAGE2 85319 broad.mit.edu 37 21 11097608 11097608 + RNA SNP C C A rs4913758 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr21:11097608C>A ENST00000470054.1 - 0 261 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) ccttcatcagcctggcttgga 0.552000 4 64 2.56e-06 2.86835e-06 0.009096 1 0 SHC2 25759 broad.mit.edu 37 19 436423 436423 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:436423C>T ENST00000264554.6 - 6 782 c.783G>A c.(781-783)acG>acA p.T261T NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 261 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol p.T622T(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCACGTAATCCGTCATGTCCT 0.711000 3 37 0 0 0.009096 0 0 PKP1 5317 broad.mit.edu 37 1 201294883 201294883 + Splice_Site SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:201294883G>A ENST00000263946.3 + 13 2337 c.2084_splice c.e13-1 p.A696_splice PKP1_ENST00000367324.3_Splice_Site_p.A675_splice|PKP1_ENST00000352845.3_Splice_Site_p.A696_splice NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 696 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis p.A675T(1)|p.A696T(1) NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CCTGCCCAGTGCCTCACCCAA 0.597000 45 29 0 0 0.014410 0 0 CNBD1 168975 broad.mit.edu 37 8 87899795 87899795 + Missense_Mutation SNP T T G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:87899795T>G ENST00000518476.1 + 2 165 c.114T>G c.(112-114)aaT>aaG p.N38K NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 38 p.N38K(2) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AGCACATTAATTATGGCCAGT 0.279000 4 17 0 0 0.009096 0 0 EIF4G1 1981 broad.mit.edu 37 3 184052638 184052638 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:184052638C>T ENST00000342981.4 + 32 5159 c.4745C>T c.(4744-4746)tCt>tTt p.S1582F EIF4G1_ENST00000435046.2_Missense_Mutation_p.S1385F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S1581F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S1588F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S1386F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S1588F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S1494F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S1541F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S1588F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S1417F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S1542F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S1495F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S1581F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S1418F NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1581 EIF4A-binding.|W2. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.S1581F(1) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCCTTAAATCTGTCACAGCC 0.597000 10 52 0 0 0.001855 0 0 MED16 10025 broad.mit.edu 37 19 872078 872078 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:872078C>T ENST00000312090.6 - 12 2096 c.1946G>A c.(1945-1947)gGc>gAc p.G649D MED16_ENST00000589119.1_Missense_Mutation_p.G649D|MED16_ENST00000269814.4_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.G649D|MED16_ENST00000395808.3_Missense_Mutation_p.G649D Q9Y2X0 MED16_HUMAN mediator complex subunit 16 649 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding p.G649D(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCGAGGTGCCGTCCCGCAG 0.657000 3 36 0 0 0.004672 0 0 FYN 2534 broad.mit.edu 37 6 112024101 112024101 + Silent SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:112024101T>A ENST00000354650.3 - 8 1290 c.684A>T c.(682-684)gtA>gtT p.V228V FYN_ENST00000368682.3_Silent_p.V228V|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368678.4_Silent_p.V228V|FYN_ENST00000368667.2_Silent_p.V228V|FYN_ENST00000356013.2_Silent_p.V228V|FYN_ENST00000229471.4_Silent_p.V228V|FYN_ENST00000538466.1_Silent_p.V228V|FYN_ENST00000229470.5_Silent_p.V179V NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 228 SH2. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity p.V228V(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) AGTAATGTTGTACAAGCTGCT 0.433000 22 21 0 0 0.002780 0 0 TG 7038 broad.mit.edu 37 8 133948035 133948035 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:133948035G>A ENST00000220616.4 + 25 5007 c.4967G>A c.(4966-4968)aGc>aAc p.S1656N TG_ENST00000377869.1_Missense_Mutation_p.S1599N|TG_ENST00000542445.1_Missense_Mutation_p.S90N NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1656 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.S1656N(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AAGGCCACCAGCTTTGGAAGT 0.448000 13 82 0 0 0.002450 0 0 ZP2 7783 broad.mit.edu 37 16 21214498 21214498 + Silent SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:21214498T>C ENST00000574002.1 - 11 1529 c.1047A>G c.(1045-1047)acA>acG p.T349T AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.T349T|ZP2_ENST00000574091.1_Silent_p.T349T Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 349 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity p.T349T(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CCATGGATACTGTCTCTGGCC 0.403000 4 70 0 0 0.009096 0 0 OC90 729330 broad.mit.edu 37 8 133051267 133051267 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:133051267G>T ENST00000262283.5 - 10 1248 c.1149C>A c.(1147-1149)acC>acA p.T383T OC90_ENST00000603859.1_Silent_p.T187T|OC90_ENST00000254627.3_Silent_p.T187T|OC90_ENST00000443356.2_Silent_p.T187T Q02509 OC90_HUMAN otoconin 90 187 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity p.T193T(1)|p.T383T(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGCAGAAGGAGGTGTCCAGAA 0.547000 12 37 3.27435e-08 3.76362e-08 0.002450 1 0 MYO19 80179 broad.mit.edu 37 17 34863665 34863665 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:34863665C>A ENST00000431794.3 - 15 1852 c.1330G>T c.(1330-1332)Gct>Tct p.A444S MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 444 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity p.A444S(2) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGGTAGTGAGCCACAAAATGC 0.527000 13 10 0.000151284 0.000163994 0.001855 1 0 GBP3 2635 broad.mit.edu 37 1 89480279 89480279 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:89480279C>T ENST00000370481.4 - 4 599 c.379G>A c.(379-381)Gtg>Atg p.V127M NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 127 integral to membrane GTP binding|GTPase activity p.V127M(1) breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) CTATTGTACACGAGAGTGCTG 0.517000 41 124 0 0 0.013114 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559014 140559014 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:140559014C>G ENST00000239444.2 + 1 1644 c.1399C>G c.(1399-1401)Ccc>Gcc p.P467A NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 467 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P467A(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAACAACAGCCCCGCCCTGCA 0.632000 32 615 0 0 0.003271 0 0 CDH12 1010 broad.mit.edu 37 5 21802463 21802463 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:21802463G>T ENST00000382254.1 - 10 2155 c.1069C>A c.(1069-1071)Cac>Aac p.H357N CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.H317N|CDH12_ENST00000504376.2_Missense_Mutation_p.H357N NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 357 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H357N(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TGAAACCGGTGGTCAAGGTGA 0.473000 HNSCC(59;0.17) 12 40 1.61879e-10 1.98017e-10 0.013537 1 0 MLLT10 8028 broad.mit.edu 37 10 21884350 21884350 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr10:21884350C>T ENST00000377072.3 + 5 734 c.386C>T c.(385-387)cCg>cTg p.P129L MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000307729.7_Missense_Mutation_p.P129L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P129L|MLLT10_ENST00000377059.3_Missense_Mutation_p.P129L NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 129 Self-association. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P129L(2) NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CAGTCTGTTCCGCATGATCGT 0.348000 T """MLL, PICALM, CDK6""" AL 26 49 0 0 0.005443 0 0 IGHG3 3502 broad.mit.edu 37 14 106236029 106236029 + RNA SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:106236029G>C ENST00000390551.2 - 0 774 GATGGGGGCTGGGAGGGCTTT 0.602000 5 422 0 0 0.001168 0 0 TFEC 22797 broad.mit.edu 37 7 115624558 115624558 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:115624558G>A ENST00000484212.1 - 4 382 c.208C>T c.(208-210)Cac>Tac p.H70Y TFEC_ENST00000393485.1_5'UTR|TFEC_ENST00000265440.7_5'UTR|TFEC_ENST00000320239.7_5'UTR O14948 TFEC_HUMAN transcription factor EC 0 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) CTTTCCAGGTGTGCTGGGACC 0.403000 25 40 0 0 0.002780 0 0 RFX2 5990 broad.mit.edu 37 19 5997179 5997179 + Silent SNP G G A rs147306532 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:5997179G>A ENST00000303657.5 - 16 2054 c.1905C>T c.(1903-1905)ttC>ttT p.F635F RFX2_ENST00000359161.3_Silent_p.F635F|RFX2_ENST00000592546.1_Silent_p.F610F|CTC-232P5.1_ENST00000587836.1_RNA NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.F635F(1) breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GGAAGGAGCCGAAGCTGGCAG 0.667000 13 27 0 0 0.001855 0 0 ZNF395 55893 broad.mit.edu 37 8 28206337 28206337 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:28206337C>A ENST00000344423.5 - 10 1572 c.1441G>T c.(1441-1443)Ggg>Tgg p.G481W ZNF395_ENST00000523202.1_Missense_Mutation_p.G481W|ZNF395_ENST00000523095.1_Missense_Mutation_p.G481W NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 481 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.G481W(1) cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TTAGCCTCCCCTCGGGCTTTC 0.627000 17 23 8.10497e-08 9.23644e-08 0.010504 1 0 DNAH7 56171 broad.mit.edu 37 2 196689130 196689130 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:196689130A>G ENST00000312428.6 - 49 9240 c.9140T>C c.(9139-9141)tTg>tCg p.L3047S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3047 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L3047S(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAGAGGTTCCAAAATAGGATC 0.353000 21 81 0 0 0.002780 0 0 LRRC8D 55144 broad.mit.edu 37 1 90400997 90400997 + Silent SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:90400997C>G ENST00000337338.5 + 3 2777 c.2370C>G c.(2368-2370)ctC>ctG p.L790L LRRC8D_ENST00000394593.3_Silent_p.L790L NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 790 integral to membrane protein binding p.L790L(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) TCACCTCACTCCCAGAGAAAG 0.512000 30 60 0 0 0.008361 0 0 WDR13 64743 broad.mit.edu 37 X 48460278 48460278 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:48460278A>G ENST00000218056.5 + 6 1443 c.938A>G c.(937-939)gAt>gGt p.D313G NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 313 cytoplasm|nucleus p.D313G(1) endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 CTGTCCTTTGATGCCCCTGGC 0.572000 15 12 0 0 0.004990 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994771 45994771 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr21:45994771C>A ENST00000400374.3 + 1 1166 c.1136C>A c.(1135-1137)tCc>tAc p.S379Y TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 379 36 X 5 AA repeats of C-C-X(3). keratin filament p.S379Y(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CCCGTCCCTTCCTGCTGTGCT 0.711000 17 68 6.33239e-15 8.55728e-15 0.010504 1 0 NSUN5P1 155400 broad.mit.edu 37 7 75045373 75045373 + RNA SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:75045373C>T ENST00000393633.2 + 0 4184 p.S38F(1) large_intestine(1)|lung(1) 2 ACTTTCCCTTCCCTGCAGCGG 0.647000 3 20 0 0 0.004672 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810495 65810495 + Missense_Mutation SNP T T G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:65810495T>G ENST00000312006.4 - 3 1060 c.779A>C c.(778-780)gAc>gCc p.D260A GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D260A NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 260 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity p.D260A(1) kidney(1)|lung(9)|ovary(2)|skin(2) 14 GAGCACGTCGTCCAGGTCCCA 0.706000 8 52 0 0 0.003080 0 0 TRAC 28755 broad.mit.edu 37 14 23019543 23019543 + RNA SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:23019543G>T ENST00000478163.3 + 0 361 ATTGGGTTCCGAATCCTCCTC 0.552000 39 61 2.62258e-09 3.10364e-09 0.010771 1 0 AKAP14 158798 broad.mit.edu 37 X 119053913 119053913 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:119053913G>T ENST00000371431.3 + 6 755 c.481G>T c.(481-483)Gca>Tca p.A161S AKAP14_ENST00000334356.2_Missense_Mutation_p.A101S|AKAP14_ENST00000371425.4_Missense_Mutation_p.A101S|AKAP14_ENST00000371423.2_Missense_Mutation_p.A102S|AKAP14_ENST00000491105.1_3'UTR NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 161 cytoplasm p.A161S(1) endometrium(4)|large_intestine(1)|lung(8) 13 TGACCACCAAGCATTAGTTCA 0.413000 35 17 4.62619e-21 6.65639e-21 0.004289 1 0 CACNA1E 777 broad.mit.edu 37 1 181705475 181705475 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:181705475G>C ENST00000526775.1 + 21 3435 c.3270G>C c.(3268-3270)gaG>gaC p.E1090D CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1041D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E716D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1109D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1060D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1090D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1109D NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1109 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.E1109D(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 aggatgaggaggaggtggaga 0.507000 9 6 0 0 0.004482 0 0 CSMD1 64478 broad.mit.edu 37 8 3474272 3474272 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:3474272C>A ENST00000602557.1 - 8 1612 c.1057G>T c.(1057-1059)Ggg>Tgg p.G353W CSMD1_ENST00000602723.1_Missense_Mutation_p.G353W|CSMD1_ENST00000400186.3_Missense_Mutation_p.G353W|CSMD1_ENST00000542608.1_Missense_Mutation_p.G353W|CSMD1_ENST00000539096.1_Missense_Mutation_p.G353W|CSMD1_ENST00000537824.1_Missense_Mutation_p.G353W|CSMD1_ENST00000520002.1_Missense_Mutation_p.G353W Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 353 Sushi 2. integral to membrane p.G353W(1)|p.G81W(1) 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) TCTGGAATCCCAGGATCTGGA 0.383000 13 33 4.36969e-10 5.31269e-10 0.001855 1 0 PLXNA4 91584 broad.mit.edu 37 7 131859587 131859587 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:131859587G>A ENST00000359827.3 - 21 4929 c.3967C>T c.(3967-3969)Cgg>Tgg p.R1323W PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1323W Q9HCM2 PLXA4_HUMAN plexin A4 1323 integral to membrane|intracellular|plasma membrane p.R1323W(3) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AACAGCACCCGCATGGTGTAA 0.582000 4 133 0 0 0.009096 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232411 1232411 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:1232411C>A ENST00000324642.3 + 2 361 c.238C>A c.(238-240)Cag>Aag p.Q80K SLC6A18_ENST00000296821.4_Missense_Mutation_p.Q80K NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 80 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.Q80K(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGCCATCGGCCAGCGGCTGCG 0.662000 13 19 1.5842e-08 1.84209e-08 0.001855 1 0 LEMD1 93273 broad.mit.edu 37 1 205389623 205389623 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:205389623G>A ENST00000367153.4 - 2 144 c.42C>T c.(40-42)aaC>aaT p.N14N LEMD1_ENST00000367151.2_Silent_p.N14N|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367149.3_Silent_p.N14N|LEMD1_ENST00000367154.1_Silent_p.N14N|LEMD1_ENST00000391936.2_Silent_p.N14N|LEMD1_ENST00000367152.1_Silent_p.N14N NM_001199050.1 NP_001185979.1 Q68G75 LEMD1_HUMAN LEM domain containing 1 14 LEM. integral to membrane|nuclear envelope p.N14N(2) breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) TCTCAAGTTGGTTCTGCAATT 0.363000 13 61 0 0 0.002450 0 0 TET1 80312 broad.mit.edu 37 10 70451167 70451167 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr10:70451167G>T ENST00000373644.4 + 12 6216 c.6007G>T c.(6007-6009)Gat>Tat p.D2003Y NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 2003 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding p.D2003Y(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CATCTTTTTGGATGCAAATAT 0.542000 40 147 6.5261e-18 9.06403e-18 0.008740 1 0 SDC3 9672 broad.mit.edu 37 1 31351564 31351564 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:31351564G>C ENST00000339394.6 - 2 336 c.162C>G c.(160-162)aaC>aaG p.N54K SDC3_ENST00000336798.7_5'UTR|SDC3_ENST00000471567.1_5'UTR NM_014654.3 NP_055469.3 O75056 SDC3_HUMAN syndecan 3 54 integral to membrane cytoskeletal protein binding p.N54K(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) GTCTCTCGAAGTTCTCACTGC 0.632000 21 84 0 0 0.010504 0 0 BAGE2 85319 broad.mit.edu 37 21 11097607 11097607 + RNA SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr21:11097607G>A ENST00000470054.1 - 0 262 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) tccttcatcagcctggcttgg 0.557000 5 63 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179593686 179593686 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:179593686C>A ENST00000589042.1 - 65 19303 c.19079G>T c.(19078-19080)gGg>gTg p.G6360V TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6043V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5116V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6043 Ig-like 45. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G5116V(1) 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) GGTATATCTCCCACTGTGTCC 0.383000 15 28 6.72482e-11 8.30225e-11 0.003163 1 0 C1orf94 84970 broad.mit.edu 37 1 34663081 34663081 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:34663081C>T ENST00000488417.1 + 2 696 c.576C>T c.(574-576)ccC>ccT p.P192P C1orf94_ENST00000373374.3_Silent_p.P2P NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 2 protein binding p.P2P(1)|p.P192P(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TGGCCATGCCCGTTATCAGCA 0.572000 17 62 0 0 0.004990 0 0 RAB2A 5862 broad.mit.edu 37 8 61471410 61471410 + Splice_Site SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:61471410G>C ENST00000262646.7 + 2 397 c.e2-1 RAB2A_ENST00000531289.1_Intron|RAB2A_ENST00000529579.1_Splice_Site NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity p.?(1) endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) TTAACTTTCAGGTGTTGGTAA 0.358000 8 95 0 0 0.004482 0 0 TKT 7086 broad.mit.edu 37 3 53262099 53262099 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:53262099A>T ENST00000462138.1 - 12 1634 c.1546T>A c.(1546-1548)Ttg>Atg p.L516M TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.L516M|TKT_ENST00000296289.6_Missense_Mutation_p.L469M|TKT_ENST00000423516.1_Missense_Mutation_p.L524M P29401 TKT_HUMAN transketolase 516 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity p.L516M(1) endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) GCAGCGGCCAAGGCCTCGTGC 0.592000 16 24 0 0 0.004990 0 0 KALRN 8997 broad.mit.edu 37 3 124418854 124418854 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:124418854C>T ENST00000360013.3 + 56 8097 c.7970C>T c.(7969-7971)tCg>tTg p.S2657L KALRN_ENST00000291478.4_Missense_Mutation_p.S960L|KALRN_ENST00000428018.2_Missense_Mutation_p.S928L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2656 Fibronectin type-III. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.S960L(1)|p.S2657L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGCGAGCCCTCGGAGTTTGTG 0.597000 26 106 0 0 0.003330 0 0 SOX7 83595 broad.mit.edu 37 8 10583302 10583302 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:10583302G>C ENST00000304501.1 - 2 1191 c.1113C>G c.(1111-1113)atC>atG p.I371M SOX7_ENST00000554914.1_Missense_Mutation_p.I423M|SOX7_ENST00000553390.1_Missense_Mutation_p.I423M NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 371 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding p.I371M(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CCAGGACGGAGATGAGGCTGG 0.647000 7 18 0 0 0.003080 0 0 ETV5 2119 broad.mit.edu 37 3 185797643 185797643 + Missense_Mutation SNP T T G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:185797643T>G ENST00000306376.5 - 7 859 c.613A>C c.(613-615)Aag>Cag p.K205Q ETV5_ENST00000537818.1_Missense_Mutation_p.K247Q|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.K205Q NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 205 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.K205Q(2) breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) GGCATCATCTTTGGCATCTGC 0.567000 T """TMPRSS2, SCL45A3""" Prostate 16 132 0 0 0.004990 0 0 FAT4 79633 broad.mit.edu 37 4 126241071 126241071 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:126241071C>T ENST00000394329.3 + 1 3518 c.3505C>T c.(3505-3507)Cgg>Tgg p.R1169W NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1169 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R1169W(4) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCTTATGAGGCGGAGAGGGAC 0.453000 67 78 0 0 0.014410 0 0 CTNND2 1501 broad.mit.edu 37 5 11236919 11236919 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:11236919C>A ENST00000304623.8 - 10 1834 c.1645G>T c.(1645-1647)Gac>Tac p.D549Y CTNND2_ENST00000511377.1_Missense_Mutation_p.D458Y|CTNND2_ENST00000359640.2_Missense_Mutation_p.D549Y|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.D212Y|CTNND2_ENST00000458100.2_Missense_Mutation_p.D116Y NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 549 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.D549Y(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AGTTCCGGGTCTCTCCATCCA 0.478000 53 73 9.57592e-29 1.42393e-28 0.014410 1 0 SNTG1 54212 broad.mit.edu 37 8 51465646 51465646 + Silent SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:51465646C>A ENST00000522124.1 + 12 1378 c.717C>A c.(715-717)gtC>gtA p.V239V SNTG1_ENST00000517473.1_Silent_p.V239V|SNTG1_ENST00000276467.5_Silent_p.V239V|SNTG1_ENST00000518864.1_Silent_p.V239V NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 239 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.V239V(2) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGGATGGGGTCTGCACTGGGA 0.423000 20 87 5.45024e-15 7.41529e-15 0.003330 1 0 OR5AU1 390445 broad.mit.edu 37 14 21623231 21623231 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:21623231G>A ENST00000304418.3 - 1 991 c.954C>T c.(952-954)tcC>tcT p.S318S NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S318S(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) CCTGGGTCAAGGAGTAGCTGG 0.507000 29 76 0 0 0.009535 0 0 FBN3 84467 broad.mit.edu 37 19 8138147 8138147 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:8138147G>A ENST00000600128.1 - 62 8151 c.7737C>T c.(7735-7737)tgC>tgT p.C2579C FBN3_ENST00000601739.1_Silent_p.C2579C|FBN3_ENST00000270509.2_Silent_p.C2579C Q75N90 FBN3_HUMAN fibrillin 3 2579 EGF-like 43; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.C2579C(1) 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 AGGCGCTCCCGCAGGTGGGGG 0.647000 5 33 0 0 0.000602 0 0 ICAM5 7087 broad.mit.edu 37 19 10404521 10404521 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:10404521G>A ENST00000221980.4 + 7 1676 c.1613G>A c.(1612-1614)gGg>gAg p.G538E NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 538 Ig-like C2-type 6. cell-cell adhesion integral to plasma membrane p.G538E(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GTCATCGAGGGGCTGTTGCGT 0.657000 15 39 0 0 0.004990 0 0 FUK 197258 broad.mit.edu 37 16 70500067 70500067 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:70500067G>T ENST00000288078.6 + 5 550 c.318G>T c.(316-318)agG>agT p.R106S FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.R89S|FUK_ENST00000378912.2_Missense_Mutation_p.R138S NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 106 cytoplasm ATP binding|fucokinase activity p.R106S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) ACTGTGGCAGGGCTTTCACCT 0.622000 10 56 1.33987e-11 1.69069e-11 0.008291 1 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907393 12907393 + Missense_Mutation SNP C C A rs143857379 byFrequency TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:12907393C>A ENST00000317869.6 - 2 975 c.750G>T c.(748-750)gaG>gaT p.E250D NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.E250D(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 GTGGGTCCCCCTCCTCAGCAG 0.498000 6 194 5.9392e-07 6.71096e-07 0.001168 1 0 DOCK2 1794 broad.mit.edu 37 5 169494560 169494560 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:169494560C>A ENST00000256935.8 + 45 4594 c.4514C>A c.(4513-4515)gCc>gAc p.A1505D DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A566D|DOCK2_ENST00000520908.1_Missense_Mutation_p.A997D NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1505 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.A1505D(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGTCCACGGCCAATGAGAAG 0.463000 9 59 0.00448238 0.00469359 0.004482 1 0 TAS2R20 259295 broad.mit.edu 37 12 11150167 11150167 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:11150167C>A ENST00000538986.1 - 1 307 c.308G>T c.(307-309)aGc>aTc p.S103I TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 103 sensory perception of taste integral to membrane G-protein coupled receptor activity p.S103I(1) breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 ATAAAATATGCTGAGGCTAGT 0.358000 30 111 1.16021e-09 1.38947e-09 0.007291 1 0 LILRB1 10859 broad.mit.edu 37 19 55143593 55143593 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:55143593C>T ENST00000396331.1 + 6 923 c.566C>T c.(565-567)cCg>cTg p.P189L LILRB1_ENST00000448689.1_Missense_Mutation_p.P189L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P189L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P189L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P189L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P189L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P189L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P189L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P189L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P225L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P189L NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 189 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.P189L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCGTGAGCCCGAGTCGCAGG 0.592000 HNSCC(37;0.09) 67 98 0 0 0.014410 0 0 MMD2 221938 broad.mit.edu 37 7 4949536 4949536 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:4949536G>C ENST00000404774.3 - 6 779 c.585C>G c.(583-585)ttC>ttG p.F195L MMD2_ENST00000401401.3_Missense_Mutation_p.F171L|MMD2_ENST00000406755.1_Missense_Mutation_p.F171L NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 195 integral to membrane receptor activity p.F171L(1)|p.F195L(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CCAGGGCGGGGAAGAAGCCCA 0.572000 15 23 0 0 0.002450 0 0 LONRF3 79836 broad.mit.edu 37 X 118112341 118112341 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:118112341C>G ENST00000365713.2 + 2 1014 c.851C>G c.(850-852)tCt>tGt p.S284C LONRF3_ENST00000304778.7_Missense_Mutation_p.S284C|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.S284C Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 284 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding p.S284C(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 AGCAATCGGTCTCAGATTTAT 0.438000 37 19 0 0 0.004289 0 0 RNF152 220441 broad.mit.edu 37 18 59483393 59483393 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr18:59483393G>A ENST00000312828.3 - 2 1403 c.304C>T c.(304-306)Ctg>Ttg p.L102L NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 102 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding p.L102L(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GGCAGGGGCAGCATGTAGCAC 0.642000 13 47 0 0 0.001855 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21353597 21353597 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:21353597A>T ENST00000256958.2 + 9 1222 c.1126A>T c.(1126-1128)Atc>Ttc p.I376F NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 376 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.I376F(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TAAGGCTAACATCTTATTGGG 0.323000 6 29 0 0 0.001168 0 0 LNX1 84708 broad.mit.edu 37 4 54327665 54327665 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:54327665T>C ENST00000306888.2 - 9 1951 c.1700A>G c.(1699-1701)aAc>aGc p.N567S FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.N663S NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 663 PDZ 3. cytoplasm zinc ion binding p.N567S(1)|p.N663S(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) AAAAGGTTTGTTTCCATTGTA 0.328000 7 37 0 0 0.004482 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503277 140503277 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:140503277A>G ENST00000194152.1 + 1 1697 c.1697A>G c.(1696-1698)aAt>aGt p.N566S NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 566 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.N566S(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCTGCAGAATGGCTCCGCG 0.701000 14 79 0 0 0.008871 0 0 IRX1 79192 broad.mit.edu 37 5 3601123 3601123 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:3601123C>G ENST00000302006.3 + 4 1464 c.1412C>G c.(1411-1413)cCg>cGg p.P471R NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 471 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P471R(1) biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GAGGGAACGCCGCGGATCCTA 0.652000 19 55 0 0 0.014323 0 0 TEKT4 150483 broad.mit.edu 37 2 95539718 95539718 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:95539718G>C ENST00000295201.4 + 3 715 c.578G>C c.(577-579)cGg>cCg p.R193P AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 193 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.R193P(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 AGACTGAACCGGGAGCACAAG 0.667000 5 72 0 0 0.001168 0 0 LIMS1 3987 broad.mit.edu 37 2 109276117 109276117 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:109276117C>T ENST00000393310.1 + 2 220 c.53C>T c.(52-54)gCg>gTg p.A18V LIMS1_ENST00000338045.3_Missense_Mutation_p.A18V|LIMS1_ENST00000393314.2_Missense_Mutation_p.A80V|LIMS1_ENST00000409441.1_Missense_Mutation_p.A55V|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000544547.1_Missense_Mutation_p.A30V|LIMS1_ENST00000410093.1_Missense_Mutation_p.A22V|LIMS1_ENST00000542845.1_Missense_Mutation_p.A80V|LIMS1_ENST00000332345.6_Missense_Mutation_p.A18V NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 18 LIM zinc-binding 1. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding p.A18V(2)|p.A80V(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 GGCGGCTTTGCGCCCGCTGAG 0.572000 4 139 0 0 0.009096 0 0 FRMD3 257019 broad.mit.edu 37 9 85958123 85958123 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:85958123C>A ENST00000304195.3 - 5 660 c.454G>T c.(454-456)Ggt>Tgt p.G152C FRMD3_ENST00000376438.1_Missense_Mutation_p.G152C NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 152 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding p.G152C(1)|p.G48C(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 ATACAGGCACCCAGGTAGGCA 0.498000 20 35 7.41877e-09 8.70237e-09 0.012319 1 0 CHST1 8534 broad.mit.edu 37 11 45671388 45671388 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:45671388G>A ENST00000308064.2 - 4 1756 c.1086C>T c.(1084-1086)ttC>ttT p.F362F NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 362 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity p.F362F(1) breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) AGGAGAGGCGGAAGCGCCACT 0.662000 15 57 0 0 0.002450 0 0 LMBR1L 55716 broad.mit.edu 37 12 49497572 49497572 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:49497572T>C ENST00000267102.8 - 6 802 c.460A>G c.(460-462)Aca>Gca p.T154A LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Missense_Mutation_p.T154A|LMBR1L_ENST00000395141.4_Missense_Mutation_p.T149A NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 154 endocytosis integral to membrane|plasma membrane receptor activity p.T149A(1)|p.T154A(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ATCACCACTGTCTCATAGACC 0.552000 65 95 0 0 0.014410 0 0 LRRC6 23639 broad.mit.edu 37 8 133637538 133637538 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:133637538C>T ENST00000519595.1 - 6 914 c.816G>A c.(814-816)cgG>cgA p.R272R LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.R272R|LRRC6_ENST00000250173.1_Silent_p.R272R Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 272 cytoplasm p.R272R(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCTGTTTCTTCCGTTGTTTTT 0.358000 13 40 0 0 0.001855 0 0 AKAP13 11214 broad.mit.edu 37 15 86205617 86205617 + Splice_Site SNP A A C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:86205617A>C ENST00000361243.2 + 12 4826 c.e12-1 RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000394518.2_Intron|AKAP13_ENST00000560579.1_Intron NM_006738.4 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGTCATCCCCAGTATGAGCTG 0.453000 12 216 0 0 0.013537 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75926293 75926293 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:75926293G>T ENST00000262207.4 + 5 1050 c.582G>T c.(580-582)caG>caT p.Q194H CRISPLD1_ENST00000517786.1_Intron|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.Q6H NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 194 extracellular region p.Q194H(1) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) TCTGGGGGCAGATATGGCCCA 0.393000 62 84 6.2918e-36 9.56927e-36 0.014410 1 0 AQP1 358 broad.mit.edu 37 7 30963182 30963182 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:30963182G>A ENST00000311813.4 + 4 803 c.748G>A c.(748-750)Gtg>Atg p.V250M AQP1_ENST00000441328.2_Missense_Mutation_p.V167M|AQP1_ENST00000409899.1_Missense_Mutation_p.V135M|AQP1_ENST00000409611.1_Missense_Mutation_p.V199M|AQP1_ENST00000434909.2_Missense_Mutation_p.V310M|AQP1_ENST00000509504.1_Missense_Mutation_p.V427M|AQP1_ENST00000482461.1_3'UTR NM_198098.2 NP_932766.1 aquaporin 1 p.V250M(1)|p.V167M(1) kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) CAGCGGCCAGGTGGAGGAGTA 0.617000 22 35 0 0 0.012319 0 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 56 0 0 0.001168 0 0 SLAIN2 57606 broad.mit.edu 37 4 48384770 48384770 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:48384770C>T ENST00000264313.6 + 5 1466 c.1048C>T c.(1048-1050)Cct>Tct p.P350S SLAIN2_ENST00000512093.1_Missense_Mutation_p.P157S NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 350 centrosome p.P350S(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 ACGCAATTCACCTCGACCGTC 0.453000 4 54 0 0 0.000602 0 0 GRM5 2915 broad.mit.edu 37 11 88583183 88583183 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:88583183A>T ENST00000418177.2 - 3 1169 c.802T>A c.(802-804)Ttg>Atg p.L268M GRM5_ENST00000393297.1_Missense_Mutation_p.L268M|GRM5_ENST00000305432.5_Missense_Mutation_p.L268M|GRM5_ENST00000455756.2_Missense_Mutation_p.L268M|GRM5_ENST00000305447.4_Missense_Mutation_p.L268M P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 268 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.L268M(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GCCTTGGGCAAGTGACTTGTG 0.552000 33 31 0 0 0.003271 0 0 TNRC6C 57690 broad.mit.edu 37 17 76087626 76087626 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:76087626C>G ENST00000335749.4 + 14 4468 c.3899C>G c.(3898-3900)cCc>cGc p.P1300R TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1303R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1300R|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1303R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1300R|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1303R NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1303 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding p.P1300R(1)|p.P1303R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGGACGCACCCCAACTCCATG 0.587000 7 20 0 0 0.004482 0 0 MON2 23041 broad.mit.edu 37 12 62928628 62928628 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:62928628G>T ENST00000393630.3 + 13 2028 c.1637G>T c.(1636-1638)aGt>aTt p.S546I MON2_ENST00000552738.1_Missense_Mutation_p.S546I|MON2_ENST00000552115.1_Missense_Mutation_p.S546I|MON2_ENST00000393632.2_Missense_Mutation_p.S546I|MON2_ENST00000546600.1_Missense_Mutation_p.S546I|MON2_ENST00000393629.2_Missense_Mutation_p.S546I|MON2_ENST00000280379.6_Missense_Mutation_p.S546I NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 546 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding p.S546I(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CTTTAAGTTAGTAGGGCTGTT 0.328000 19 74 2.94398e-08 3.39364e-08 0.007413 1 0 EPHA5 2044 broad.mit.edu 37 4 66218804 66218804 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:66218804C>A ENST00000273854.3 - 13 2854 c.2254G>T c.(2254-2256)Gtg>Ttg p.V752L EPHA5_ENST00000432638.2_Missense_Mutation_p.V589L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V730L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V753L NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 752 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.V752L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TACTCTGTCACGATCATCACT 0.343000 TSP Lung(17;0.13) 15 18 6.72482e-11 8.30225e-11 0.003163 1 0 TRAK2 66008 broad.mit.edu 37 2 202260067 202260067 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:202260067C>A ENST00000332624.3 - 8 1298 c.870G>T c.(868-870)caG>caT p.Q290H TRAK2_ENST00000430254.1_Missense_Mutation_p.Q290H NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 290 early endosome|plasma membrane GABA receptor binding p.Q290H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 GGTCTACAATCTGTGACAAAA 0.388000 16 132 7.81268e-19 1.09652e-18 0.004990 1 0 DUSP26 78986 broad.mit.edu 37 8 33449609 33449609 + Silent SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:33449609T>C ENST00000256261.4 - 4 1075 c.558A>G c.(556-558)cgA>cgG p.R186R DUSP26_ENST00000523956.1_Silent_p.R186R NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 186 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R186R(1) NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) GGATGATGCCTCGGTGGTCTT 0.642000 13 32 0 0 0.004007 0 0 HPCAL4 51440 broad.mit.edu 37 1 40148229 40148229 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:40148229C>T ENST00000372844.3 - 4 946 c.555G>A c.(553-555)ctG>ctA p.L185L NM_016257.2 NP_057341.1 Q9UM19 HPCL4_HUMAN hippocalcin like 4 185 central nervous system development intracellular calcium ion binding p.L185L(1) breast(1)|central_nervous_system(1)|lung(5)|stomach(1) 8 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGTCACACTGCAGCAGCAACA 0.557000 36 72 0 0 0.003755 0 0 C1orf116 79098 broad.mit.edu 37 1 207195331 207195331 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:207195331A>G ENST00000359470.5 - 4 2027 c.1778T>C c.(1777-1779)cTg>cCg p.L593P C1orf116_ENST00000461135.2_Missense_Mutation_p.L347P NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 593 cytoplasm|plasma membrane receptor activity p.L593P(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) CAGCTTCTTCAGGGCCTCCCT 0.562000 72 77 0 0 0.014410 0 0 OR5P2 120065 broad.mit.edu 37 11 7818148 7818148 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:7818148C>A ENST00000329434.2 - 1 372 c.342G>T c.(340-342)atG>atT p.M114I RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M114I(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGTCATAGGCCATGGCAGCCA 0.483000 29 100 1.16021e-09 1.38947e-09 0.007291 1 0 APLF 200558 broad.mit.edu 37 2 68804987 68804987 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:68804987G>T ENST00000303795.4 + 10 1540 c.1369G>T c.(1369-1371)Ggg>Tgg p.G457W APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 457 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding p.G457W(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 TGATAATGTTGGGCAACCCAA 0.413000 27 56 8.24728e-16 1.12976e-15 0.004656 1 0 NARG2 79664 broad.mit.edu 37 15 60740324 60740324 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:60740324C>A ENST00000261520.4 - 11 2374 c.2140G>T c.(2140-2142)Gac>Tac p.D714Y NARG2_ENST00000439632.1_Missense_Mutation_p.D577Y NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 714 nucleus p.D714Y(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TCAACATAGTCCTGAAGTTCA 0.343000 20 32 3.99206e-14 5.25271e-14 0.007413 1 0 DDI2 84301 broad.mit.edu 37 1 15953187 15953187 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:15953187C>T ENST00000480945.1 + 2 333 c.162C>T c.(160-162)ctC>ctT p.L54L NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 54 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity p.L54L(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AAAGACCTCTCACAGACAACC 0.458000 4 132 0 0 0.000602 0 0 STK32B 55351 broad.mit.edu 37 4 5461853 5461853 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:5461853C>T ENST00000282908.5 + 9 1229 c.807C>T c.(805-807)agC>agT p.S269S STK32B_ENST00000510398.1_Silent_p.S222S|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.S192S NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 269 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.S269S(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 ATCCTGAGAGCCGCGTGTCCA 0.567000 OREG0016061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 56 0 0 0.007413 0 0 RANBP3 8498 broad.mit.edu 37 19 5917862 5917862 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:5917862C>T ENST00000340578.6 - 16 1660 c.1603G>A c.(1603-1605)Gag>Aag p.E535K RANBP3_ENST00000591092.1_Missense_Mutation_p.E462K|RANBP3_ENST00000439268.2_Missense_Mutation_p.E530K|RANBP3_ENST00000541471.1_Missense_Mutation_p.E407K|RANBP3_ENST00000034275.8_Missense_Mutation_p.E467K NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 535 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding p.E535K(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 TCGTCCTCCTCGTTGGATGGG 0.682000 8 40 0 0 0.003080 0 0 CHST12 55501 broad.mit.edu 37 7 2472309 2472309 + Missense_Mutation SNP T T G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:2472309T>G ENST00000258711.6 + 2 170 c.35T>G c.(34-36)gTg>gGg p.V12G NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 12 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding p.V12G(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGTGGCTGGTGCTGGGGTCG 0.662000 9 68 0 0 0.006122 0 0 GEM 2669 broad.mit.edu 37 8 95262661 95262661 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:95262661C>A ENST00000297596.2 - 5 1032 c.768G>T c.(766-768)caG>caT p.Q256H GEM_ENST00000396194.2_Missense_Mutation_p.Q256H NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 256 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding p.Q256H(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) CCTTCCTTTTCTGGTAGGCCA 0.552000 5 68 0.000602214 0.000640654 0.000602 1 0 PTGER2 5732 broad.mit.edu 37 14 52781431 52781431 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:52781431G>T ENST00000245457.5 + 1 319 c.165G>T c.(163-165)ggG>ggT p.G55G PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 55 integral to plasma membrane prostaglandin E receptor activity p.G55G(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) GGGACGTGGGGTGCAGCGCCG 0.692000 4 21 1.23904e-05 1.3729e-05 0.000602 1 0 FBN2 2201 broad.mit.edu 37 5 127704944 127704944 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:127704944C>T ENST00000508053.1 - 22 3153 c.2179G>A c.(2179-2181)Gaa>Aaa p.E727K FBN2_ENST00000262464.4_Missense_Mutation_p.E727K|FBN2_ENST00000508989.1_Missense_Mutation_p.E694K|FBN2_ENST00000511489.1_5'UTR P35556 FBN2_HUMAN fibrillin 2 727 TB 3. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E727K(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CAGCAGCATTCGGACTTGGTC 0.478000 31 67 0 0 0.010818 0 0 C11orf45 219833 broad.mit.edu 37 11 128774402 128774402 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:128774402C>T ENST00000310799.3 - 2 253 c.60G>A c.(58-60)acG>acA p.T20T C11orf45_ENST00000524878.1_Silent_p.T20T|KCNJ5_ENST00000529694.1_Intron|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000530168.1_5'UTR NM_001256088.1|NM_145013.2 NP_001243017.1|NP_659450.1 Q8TAV5 CK045_HUMAN chromosome 11 open reading frame 45 20 extracellular region p.T20T(1) endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2) 7 all_hematologic(175;0.0641) Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195) tggcagcgtgcgtccagggcg 0.587000 9 64 0 0 0.004482 0 0 DCHS1 8642 broad.mit.edu 37 11 6661991 6661991 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:6661991C>A ENST00000299441.3 - 2 1265 c.854G>T c.(853-855)gGt>gTt p.G285V NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 285 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G285V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCATTGACACCAGCATCGGC 0.607000 29 27 5.60225e-13 7.29935e-13 0.009535 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899608 112899608 + Nonsense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:112899608C>G ENST00000374530.3 + 8 1964 c.1784C>G c.(1783-1785)tCa>tGa p.S595* AKAP2_ENST00000259318.7_Nonsense_Mutation_p.S364*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.S595*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.S453*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.S595*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.S595*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.S453* NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 364 enzyme binding p.S595*(1)|p.S453*(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TCAGTCAACTCAGACAAGCCA 0.592000 28 20 0 0 0.005443 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958272 143958272 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:143958272G>T ENST00000292427.4 - 4 657 c.625C>A c.(625-627)Ctg>Atg p.L209M CYP11B1_ENST00000377675.3_Missense_Mutation_p.L280M|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L209M NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 209 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.L209M(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) ACCAGGCCCAGCCGCTCTCCA 0.622000 Familial Hyperaldosteronism type I 11 46 0.00010058 0.000109326 0.013537 1 0 PCDHB5 26167 broad.mit.edu 37 5 140515983 140515983 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:140515983G>T ENST00000231134.5 + 1 1184 c.967G>T c.(967-969)Ggt>Tgt p.G323C NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 323 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.G323C(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCACAGATGGTGGGGGCCT 0.478000 31 147 2.2171e-23 3.23664e-23 0.009535 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107446536 107446536 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:107446536G>C ENST00000409382.3 - 5 1914 c.1304C>G c.(1303-1305)tCt>tGt p.S435C ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S435C|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S435C NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 435 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.S435C(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GAAACCAGAAGATGGTGGGTT 0.363000 91 143 0 0 0.014410 0 0 FAM194A 131831 broad.mit.edu 37 3 150384584 150384584 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:150384584G>T ENST00000295910.6 - 13 1770 c.1718C>A c.(1717-1719)aCc>aAc p.T573N FAM194A_ENST00000491361.1_Missense_Mutation_p.T427N NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 573 p.T573N(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CTTCACTTTGGTTCCAACACT 0.328000 17 51 4.7546e-09 5.61015e-09 0.004007 1 0 OLIG3 167826 broad.mit.edu 37 6 137814807 137814807 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:137814807C>T ENST00000367734.2 - 1 724 c.501G>A c.(499-501)tcG>tcA p.S167S NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.S167S(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GGTGGCCGGCCGAGTGGCCCA 0.692000 3 20 0 0 0.004672 0 0 ZNF608 57507 broad.mit.edu 37 5 123980150 123980150 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:123980150G>C ENST00000306315.5 - 5 4345 c.3910C>G c.(3910-3912)Caa>Gaa p.Q1304E ZNF608_ENST00000504926.1_Missense_Mutation_p.Q877E NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1304 intracellular zinc ion binding p.Q1304E(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TCCATTGATTGAGAATCAGGA 0.483000 46 197 0 0 0.011902 0 0 CC2D1A 54862 broad.mit.edu 37 19 14040911 14040911 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:14040911C>T ENST00000318003.7 + 27 2972 c.2731C>T c.(2731-2733)Cgg>Tgg p.R911W CC2D1A_ENST00000589606.1_Missense_Mutation_p.R910W NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 911 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity p.R911W(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CCAGCTGGAGCGGCAGCTGCA 0.687000 4 22 0 0 0.000602 0 0 IMP4 92856 broad.mit.edu 37 2 131102212 131102212 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:131102212G>T ENST00000259239.3 + 3 831 c.123G>T c.(121-123)ctG>ctT p.L41L IMP4_ENST00000409935.1_Silent_p.L41L NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 41 Arg-rich. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding p.L41L(1) central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) AAAACCGCCTGATTCCCACTG 0.537000 40 53 2.35958e-20 3.37084e-20 0.009718 1 0 GBA2 57704 broad.mit.edu 37 9 35738882 35738882 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:35738882C>T ENST00000378094.4 - 12 2327 c.1814G>A c.(1813-1815)cGc>cAc p.R605H GBA2_ENST00000378103.3_Missense_Mutation_p.R605H|GBA2_ENST00000545786.1_Missense_Mutation_p.R611H|GBA2_ENST00000467252.1_5'UTR Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 605 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity p.R605H(1) NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGCATTGACGCGGAGCCATGG 0.498000 5 67 0 0 0.000602 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076490 57076490 + Missense_Mutation SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:57076490T>A ENST00000532437.1 - 5 4006 c.3695A>T c.(3694-3696)aAt>aTt p.N1232I TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.N1232I Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1232 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.N1232I(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GCTCTTCACATTAACATCAGA 0.582000 38 199 0 0 0.006999 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938383 2938383 + Nonsense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:2938383C>T ENST00000378404.2 + 1 338 c.133C>T c.(133-135)Cag>Tag p.Q45* NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 45 cytoplasm|cytoskeleton p.Q45*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCTGAAATTCCAGGCTCCCTC 0.597000 4 28 0 0 0.009096 0 0 TOLLIP 54472 broad.mit.edu 37 11 1316878 1316878 + Silent SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:1316878T>C ENST00000317204.6 - 2 303 c.180A>G c.(178-180)gtA>gtG p.V60V TOLLIP_ENST00000527938.1_Silent_p.V60V|TOLLIP_ENST00000527886.1_5'UTR|TOLLIP_ENST00000542915.1_Intron|TOLLIP_ENST00000525159.1_Silent_p.V60V|TOLLIP_ENST00000263646.7_Silent_p.V32V NM_019009.3 NP_061882.2 Q9H0E2 TOLIP_HUMAN toll interacting protein 60 C2. cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding p.V60V(1) large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) GGCCCACCTGTACCACCGTGA 0.667000 25 54 0 0 0.003954 0 0 CLSTN3 9746 broad.mit.edu 37 12 7303151 7303151 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:7303151A>G ENST00000537408.1 + 14 2831 c.2293A>G c.(2293-2295)Atc>Gtc p.I765V CLSTN3_ENST00000266546.6_Missense_Mutation_p.I753V Q9BQT9 CSTN3_HUMAN calsyntenin 3 753 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.I753V(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GGTGGAGAGCATCACTGTGTA 0.612000 24 40 0 0 0.003954 0 0 MYT1L 23040 broad.mit.edu 37 2 1915812 1915812 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:1915812G>A ENST00000399161.2 - 12 2436 c.1689C>T c.(1687-1689)agC>agT p.S563S MYT1L_ENST00000428368.2_Silent_p.S561S NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 563 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S563S(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGTTCCTGTTGCTGTTGACAT 0.622000 8 34 0 0 0.003080 0 0 LAMB1 3912 broad.mit.edu 37 7 107591767 107591767 + Splice_Site SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:107591767A>G ENST00000393561.1 - 22 3551 c.3366_splice c.e22-1 p.F1123_splice LAMB1_ENST00000222399.6_Splice_Site_p.F1099_splice P07942 LAMB1_HUMAN laminin, beta 1 1099 Laminin EGF-like 12. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.F1099L(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCCCCGTGAACTGCGGCCAG 0.567000 6 32 0 0 0.001168 0 0 RGPD3 653489 broad.mit.edu 37 2 107041547 107041547 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:107041547C>G ENST00000409886.3 - 20 2963 c.2876G>C c.(2875-2877)cGt>cCt p.R959P RGPD3_ENST00000304514.7_Missense_Mutation_p.R959P NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 959 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 AATCACACCACGGCCCTTCTT 0.413000 6 429 0 0 0.001168 0 0 DOC2A 8448 broad.mit.edu 37 16 30021433 30021433 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:30021433G>T ENST00000350119.4 - 2 301 c.111C>A c.(109-111)ccC>ccA p.P37P DOC2A_ENST00000564944.1_Silent_p.P37P|DOC2A_ENST00000564979.1_Silent_p.P37P NM_003586.2 NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 37 Interaction with UNC13D and DYNLT1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity p.P37P(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 CTGGTCCCCGGGGGAAGTAGT 0.716000 23 36 1.50039e-11 1.86965e-11 0.012319 1 0 CPED1 79974 broad.mit.edu 37 7 120655845 120655845 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:120655845G>A ENST00000310396.5 + 3 843 c.376G>A c.(376-378)Gtt>Att p.V126I CPED1_ENST00000450913.2_Missense_Mutation_p.V126I|CPED1_ENST00000340646.5_Missense_Mutation_p.V126I|CPED1_ENST00000495036.1_3'UTR NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 p.V126I(1) TGGCTATACGGTTGTCATCGC 0.498000 7 29 0 0 0.001984 0 0 MUC17 140453 broad.mit.edu 37 7 100684160 100684160 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:100684160C>T ENST00000306151.4 + 3 9527 c.9463C>T c.(9463-9465)Cca>Tca p.P3155S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3155 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.478000 6 605 0 0 0.001984 0 0 LOC645166 645166 broad.mit.edu 37 1 148932821 148932821 + RNA SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:148932821C>T ENST00000539543.1 + 0 77 NR_027355.1 CCCGCCAGGCCTCCATAGAGC 0.602000 9 180 0 0 0.004007 0 0 KRT74 121391 broad.mit.edu 37 12 52962032 52962032 + Nonsense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:52962032G>A ENST00000549343.1 - 8 1356 c.1318C>T c.(1318-1320)Cag>Tag p.Q440* KRT74_ENST00000305620.2_Nonsense_Mutation_p.Q426* Q7RTS7 K2C74_HUMAN keratin 74 426 Coil 2.|Rod. keratin filament structural molecule activity p.Q426*(1) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) ATGAGCTCCTGGTACTCGCGC 0.642000 26 63 0 0 0.003954 0 0 ALMS1 7840 broad.mit.edu 37 2 73677420 73677420 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:73677420A>T ENST00000264448.6 + 8 3874 c.3763A>T c.(3763-3765)Aat>Tat p.N1255Y ALMS1_ENST00000409009.1_Missense_Mutation_p.N1213Y|ALMS1_ENST00000377715.1_Missense_Mutation_p.N1255Y NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1255 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.N1255Y(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTTGCCAGATAATCATCCAAC 0.473000 50 143 0 0 0.014410 0 0 CPXM1 56265 broad.mit.edu 37 20 2778833 2778833 + Silent SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr20:2778833C>A ENST00000380605.2 - 4 619 c.555G>T c.(553-555)tcG>tcT p.S185S NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 185 F5/8 type C. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding p.S185S(1) endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TGATAACACCCGAGAAGCGGG 0.617000 5 88 0.000602214 0.000640654 0.000602 1 0 TTN 7273 broad.mit.edu 37 2 179603970 179603970 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:179603970C>G ENST00000589042.1 - 48 14214 c.13990G>C c.(13990-13992)Gac>Cac p.D4664H TTN_ENST00000359218.5_Missense_Mutation_p.D4426H|TTN_ENST00000591111.1_Missense_Mutation_p.D4347H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D4301H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D4493H|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4347 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D4426H(1) 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) TTTACTTTGTCGATGACTAGC 0.378000 4 37 0 0 0.000602 0 0 ZAN 7455 broad.mit.edu 37 7 100395402 100395402 + RNA SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:100395402A>G ENST00000542585.1 + 0 8697 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AAATAAATTTATATAtttatt 0.453000 8 19 0 0 0.004482 0 0 CDH8 1006 broad.mit.edu 37 16 61689618 61689618 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:61689618G>T ENST00000577390.1 - 11 2616 c.1662C>A c.(1660-1662)tcC>tcA p.S554S CDH8_ENST00000299345.6_Silent_p.S554S|CDH8_ENST00000577730.1_Silent_p.S554S NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 554 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S554S(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AAATACTGAGGGAATTATCTG 0.343000 9 37 0.00448238 0.00469359 0.004482 1 0 MAGEB4 4115 broad.mit.edu 37 X 30260394 30260394 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:30260394G>A ENST00000378982.2 + 1 338 c.142G>A c.(142-144)Gat>Aat p.D48N NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 48 p.D48N(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 TGTTTTGAGGGATACTGCCTC 0.562000 17 9 0 0 0.004007 0 0 AK5 26289 broad.mit.edu 37 1 77759535 77759535 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:77759535A>G ENST00000344720.5 + 3 1253 c.227A>G c.(226-228)cAt>cGt p.H76R AK5_ENST00000354567.2_Missense_Mutation_p.H102R|AK5_ENST00000317704.4_Intron NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 102 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity p.H102R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 CCTCCAATCCATCAATTCTCC 0.413000 3 85 0 0 0.009096 0 0 F13A1 2162 broad.mit.edu 37 6 6266993 6266993 + Silent SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:6266993G>C ENST00000264870.3 - 4 634 c.369C>G c.(367-369)gtC>gtG p.V123V NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 123 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.V123V(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GTAACTCTGAGACTATAGGCA 0.483000 10 122 0 0 0.006214 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25749241 25749241 + RNA SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:25749241G>A ENST00000586223.1 + 0 1142 NR_033892.1 TGAACATTCAGGAAATCAAGA 0.498000 25 25 0 0 0.004656 0 0 OR51I2 390064 broad.mit.edu 37 11 5475230 5475230 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:5475230C>A ENST00000341449.2 + 1 593 c.512C>A c.(511-513)tCc>tAc p.S171Y HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S171Y(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCTGCAGATCCAATGTTCTT 0.463000 62 63 2.53126e-37 3.86452e-37 0.014410 1 0 ARHGEF25 115557 broad.mit.edu 37 12 58006846 58006846 + Silent SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:58006846C>G ENST00000286494.4 + 2 691 c.231C>G c.(229-231)ggC>ggG p.G77G ARHGEF25_ENST00000333972.7_Silent_p.G116G|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 77 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity p.G77G(1)|p.G116G(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 CCGTCAGTGGCCTGAGGAGAT 0.627000 15 33 0 0 0.002450 0 0 OR8J1 219477 broad.mit.edu 37 11 56128574 56128574 + Silent SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:56128574T>A ENST00000303039.3 + 1 884 c.852T>A c.(850-852)ccT>ccA p.P284P NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P284P(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TGGTAATTCCTATGCTGAATC 0.393000 44 54 0 0 0.009718 0 0 MPPED1 758 broad.mit.edu 37 22 43870629 43870629 + Nonsense_Mutation SNP C C G rs139800936 by1000genomes TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr22:43870629C>G ENST00000417669.1 + 4 864 c.420C>G c.(418-420)taC>taG p.Y140* MPPED1_ENST00000414469.2_Nonsense_Mutation_p.Y34*|MPPED1_ENST00000443721.1_Nonsense_Mutation_p.Y140*|MPPED1_ENST00000538182.1_Nonsense_Mutation_p.Y173*|MPPED1_ENST00000542779.1_Nonsense_Mutation_p.Y140*|MPPED1_ENST00000439548.1_5'UTR O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 140 hydrolase activity p.Y140*(1) endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GCCTGCCCTACGAGTACAAGA 0.582000 60 31 0 0 0.014410 0 0 CUL3 8452 broad.mit.edu 37 2 225362561 225362561 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:225362561T>C ENST00000264414.4 - 12 1954 c.1616A>G c.(1615-1617)tAc>tGc p.Y539C CUL3_ENST00000409777.1_Missense_Mutation_p.Y515C|CUL3_ENST00000344951.4_Missense_Mutation_p.Y473C|CUL3_ENST00000409096.1_Missense_Mutation_p.Y515C NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 539 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding p.Y539C(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTTGGCTAAGTAGAACCTTCA 0.363000 13 51 0 0 0.002450 0 0 BTF3 689 broad.mit.edu 37 5 72798404 72798404 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:72798404A>G ENST00000380591.3 + 3 512 c.293A>G c.(292-294)aAc>aGc p.N98S BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.N54S NM_001037637.1 NP_001032726.1 P20290 BTF3_HUMAN basic transcription factor 3 98 NAC-A/B. Missing (in Ref. 2; AAA58398). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding p.N98S(1) endometrium(1)|large_intestine(2)|lung(2) 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) TTAGGGGTAAACAATATCTCT 0.363000 10 25 0 0 0.006214 0 0 NEB 4703 broad.mit.edu 37 2 152521927 152521927 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:152521927G>T ENST00000397345.3 - 42 5360 c.5158C>A c.(5158-5160)Ccc>Acc p.P1720T NEB_ENST00000409198.1_Missense_Mutation_p.P1720T|NEB_ENST00000427231.2_Missense_Mutation_p.P1720T|NEB_ENST00000603639.1_Missense_Mutation_p.P1720T|NEB_ENST00000172853.10_Missense_Mutation_p.P1720T|NEB_ENST00000604864.1_Missense_Mutation_p.P1720T NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1720 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.P1720T(2) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGCTTCTCGGGGTGCTGGCGA 0.502000 20 22 7.45023e-12 9.49073e-12 0.010504 1 0 KIAA0754 643314 broad.mit.edu 37 1 39876924 39876924 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:39876924G>T ENST00000530275.1 + 1 774 c.579G>T c.(577-579)atG>atT p.M193I MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 193 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GATGGATTATGATGGAGGCTG 0.458000 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 57 2.42023e-17 3.3498e-17 0.003271 1 0 SGCA 6442 broad.mit.edu 37 17 48244787 48244787 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:48244787G>A ENST00000262018.3 + 2 132 c.96G>A c.(94-96)gtG>gtA p.V32V SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000344627.6_Silent_p.V32V|SGCA_ENST00000543315.1_Silent_p.V32V|SGCA_ENST00000513942.1_Intron NM_000023.2 NP_000014.1 Q16586 SGCA_HUMAN sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 32 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding p.V32V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 ACCCACTTGTGGGCCGTGTCT 0.647000 19 64 0 0 0.010504 0 0 ROBO4 54538 broad.mit.edu 37 11 124763789 124763789 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:124763789G>A ENST00000306534.3 - 9 1956 c.1471C>T c.(1471-1473)Cgc>Tgc p.R491C ROBO4_ENST00000533054.1_Missense_Mutation_p.R346C NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 491 angiogenesis|cell differentiation integral to membrane receptor activity p.R491C(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CGGCGCCGGCGGTGGATACAC 0.647000 3 21 0 0 0.004672 0 0 CCNH 902 broad.mit.edu 37 5 86703889 86703889 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:86703889T>C ENST00000508855.1 - 3 259 c.207A>G c.(205-207)atA>atG p.I69M CCNH_ENST00000513499.1_Intron|CCNH_ENST00000504878.1_Missense_Mutation_p.I69M|CCNH_ENST00000256897.4_Missense_Mutation_p.I143M P51946 CCNH_HUMAN cyclin H 143 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding p.I143M(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) CATATTCCAGTATCTGTTCAA 0.413000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 15 50 0 0 0.002450 0 0 BTNL8 79908 broad.mit.edu 37 5 180335652 180335652 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:180335652C>G ENST00000231229.4 + 2 350 c.116C>G c.(115-117)tCc>tGc p.S39C BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.S39C|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.S39C NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 39 Ig-like V-type 1. integral to membrane p.S39C(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCATTCTCCTGTTTCCTG 0.552000 26 68 0 0 0.005443 0 0 HLA-C 3107 broad.mit.edu 37 6 31239513 31239513 + Missense_Mutation SNP C C T rs41548913 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:31239513C>T ENST00000383329.3 - 2 220 c.206G>A c.(205-207)gGg>gAg p.G69E HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 69 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex p.G69E(5) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CCGCGGCTCCCCTCTCGGACT 0.697000 4 70 0 0 0.008291 0 0 SEMA4A 64218 broad.mit.edu 37 1 156126240 156126240 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:156126240A>G ENST00000368285.3 + 3 442 c.175A>G c.(175-177)Aag>Gag p.K59E SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.K59E|SEMA4A_ENST00000355014.2_Missense_Mutation_p.K59E|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000487358.1_3'UTR NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 59 Sema. axon guidance integral to membrane|plasma membrane receptor activity p.K59E(1) breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CTTCCACCAGAAGGGCCTCCA 0.537000 38 46 0 0 0.008740 0 0 FOLH1 2346 broad.mit.edu 37 11 49170214 49170214 + Silent SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:49170214C>A ENST00000340334.7 - 19 2363 c.1995G>T c.(1993-1995)ggG>ggT p.G665G FOLH1_ENST00000256999.2_Silent_p.G680G|FOLH1_ENST00000533034.1_Intron|FOLH1_ENST00000356696.3_Intron|FOLH1_ENST00000343844.4_Silent_p.G372G NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 680 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.G680G(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGTCTGGTAACCCTAATGGAT 0.284000 10 39 7.48243e-07 8.40722e-07 0.006214 1 0 ODC1 4953 broad.mit.edu 37 2 10583844 10583844 + Missense_Mutation SNP C C T rs116522452 by1000genomes TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:10583844C>T ENST00000234111.4 - 6 1078 c.568G>A c.(568-570)Gat>Aat p.D190N ODC1_ENST00000405333.1_Missense_Mutation_p.D190N NM_002539.1 NP_002530.1 P11926 DCOR_HUMAN ornithine decarboxylase 1 190 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding p.D190N(1) NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) CCAACAACATCGATATTTAGC 0.448000 36 133 0 0 0.004878 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552078 178552078 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:178552078G>C ENST00000251582.7 - 19 2955 c.2854C>G c.(2854-2856)Cgc>Ggc p.R952G NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 952 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R952G(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGCACGGAGCGGGTGGTGTTG 0.697000 13 87 0 0 0.003163 0 0 RGL2 5863 broad.mit.edu 37 6 33264242 33264242 + Splice_Site SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:33264242C>A ENST00000497454.1 - 5 915 c.e5-1 PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_Splice_Site|RGL2_ENST00000444031.2_Splice_Site NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity p.?(1) breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GGCTTCCAGCCTGAGGGGGAG 0.517000 47 52 4.18559e-23 6.08813e-23 0.014410 1 0 SYDE2 84144 broad.mit.edu 37 1 85634849 85634849 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:85634849C>G ENST00000341460.5 - 5 2780 c.2731G>C c.(2731-2733)Gag>Cag p.E911Q NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 911 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity p.E911Q(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) AATACAGCCTCATAAAGCTGC 0.403000 53 111 0 0 0.014410 0 0 PTPRN2 5799 broad.mit.edu 37 7 158334236 158334236 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:158334236C>A ENST00000404321.2 - 1 62 c.63G>T c.(61-63)atG>atT p.M21I PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389418.4_Intron|PTPRN2_ENST00000409483.1_Intron Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 0 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCACACAGAACATCTTCATAG 0.517000 41 56 3.61848e-18 5.05269e-18 0.007835 1 0 KIF6 221458 broad.mit.edu 37 6 39513450 39513450 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:39513450A>T ENST00000287152.7 - 11 1290 c.1196T>A c.(1195-1197)aTa>aAa p.I399K KIF6_ENST00000538893.1_Missense_Mutation_p.I399K|KIF6_ENST00000373215.3_Missense_Mutation_p.I399K|KIF6_ENST00000373213.4_Missense_Mutation_p.I238K|KIF6_ENST00000373216.3_Missense_Mutation_p.I399K NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 399 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.I399K(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 AAAGGATGTTATTAGTTTTTC 0.338000 5 78 0 0 0.001168 0 0 SLC39A4 55630 broad.mit.edu 37 8 145642092 145642092 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:145642092G>T ENST00000301305.3 - 1 187 c.82C>A c.(82-84)Ctg>Atg p.L28M NM_130849.2 NP_570901.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 28 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity p.L28M(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) AGGCTCAGCAGACCAGCAGGC 0.677000 3 27 0.00909568 0.00942558 0.009096 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900057 112900057 + Nonsense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:112900057C>T ENST00000374530.3 + 8 2413 c.2233C>T c.(2233-2235)Cag>Tag p.Q745* AKAP2_ENST00000259318.7_Nonsense_Mutation_p.Q514*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.Q745*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.Q603*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.Q745*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.Q745*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.Q603* NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 514 enzyme binding p.Q745*(1)|p.Q603*(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CAATGCCCTCCAGGAAAATTC 0.512000 47 37 0 0 0.010771 0 0 OR5T2 219464 broad.mit.edu 37 11 55999849 55999849 + Missense_Mutation SNP T T G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:55999849T>G ENST00000313264.4 - 1 888 c.813A>C c.(811-813)gaA>gaC p.E271D NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E271D(1) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TTCTCCTCCCTTCAGCAGAAT 0.438000 40 71 0 0 0.010771 0 0 CSMD1 64478 broad.mit.edu 37 8 2949101 2949101 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:2949101A>T ENST00000602557.1 - 49 7780 c.7225T>A c.(7225-7227)Tta>Ata p.L2409I CSMD1_ENST00000602723.1_Missense_Mutation_p.L2409I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2409I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2408I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2408I|CSMD1_ENST00000520002.1_Missense_Mutation_p.L2409I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2409 CUB 14. integral to membrane p.L2137I(1)|p.L2408I(1) 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) CGGAGATATAACTGATTACTC 0.378000 6 42 0 0 0.001168 0 0 CD209 30835 broad.mit.edu 37 19 7810548 7810548 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:7810548C>G ENST00000315599.7 - 4 626 c.604G>C c.(604-606)Gca>Cca p.A202P CD209_ENST00000301357.8_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.A178P|CD209_ENST00000315591.8_Missense_Mutation_p.A178P|CD209_ENST00000601256.1_Missense_Mutation_p.A178P|CD209_ENST00000601951.1_Missense_Mutation_p.A178P|CD209_ENST00000204801.8_Missense_Mutation_p.A158P|CD209_ENST00000354397.6_Missense_Mutation_p.A202P|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000394161.5_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 202 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.A202P(2) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCACCCACTGCAGCCTTCAGC 0.557000 57 98 0 0 0.014410 0 0 CLCNKA 1187 broad.mit.edu 37 1 16358738 16358738 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:16358738G>T ENST00000375692.1 + 18 1925 c.1797G>T c.(1795-1797)ctG>ctT p.L599L CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Silent_p.L599L|CLCNKA_ENST00000439316.2_Silent_p.L556L|CLCNKA_ENST00000420078.1_Silent_p.L599L P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 599 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.L599L(1) breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GGGCCCAGCTGGTGCAGGCCC 0.642000 8 55 0.000157383 0.000170144 0.003080 1 0 ATP13A4 84239 broad.mit.edu 37 3 193210950 193210950 + Splice_Site SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:193210950C>A ENST00000342695.4 - 4 704 c.e4-1 ATP13A4_ENST00000392443.3_Splice_Site|ATP13A4_ENST00000295548.3_Splice_Site NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.?(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TGCATCTCACCTGCAAAAGAA 0.358000 18 40 6.94344e-10 8.39087e-10 0.006122 1 0 ZNF350 59348 broad.mit.edu 37 19 52468138 52468138 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:52468138T>C ENST00000243644.4 - 5 1795 c.1568A>G c.(1567-1569)tAt>tGt p.Y523C HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 523 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding p.Y523C(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) AAATAAGACATAATTGATCAC 0.413000 13 55 0 0 0.013537 0 0 ZNF318 24149 broad.mit.edu 37 6 43323188 43323188 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:43323188G>A ENST00000361428.2 - 4 1961 c.1884C>T c.(1882-1884)tcC>tcT p.S628S ZNF318_ENST00000318149.3_Silent_p.S628S NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 628 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding p.S628S(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GGTCAGCTGAGGAGCGTAATG 0.522000 106 95 0 0 0.014410 0 0 CSMD3 114788 broad.mit.edu 37 8 113256788 113256788 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:113256788G>T ENST00000297405.5 - 65 10481 c.10237C>A c.(10237-10239)Cag>Aag p.Q3413K CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3343K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3244K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3373K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3413 Sushi 28. integral to membrane|plasma membrane p.Q3413K(1)|p.Q3373K(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTTTCTGGCTGTTTACAGCTG 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 34 0.000219431 0.000236584 0.002450 1 0 RYR3 6263 broad.mit.edu 37 15 34140553 34140553 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr15:34140553T>C ENST00000389232.4 + 94 13629 c.13559T>C c.(13558-13560)cTa>cCa p.L4520P RYR3_ENST00000415757.3_Missense_Mutation_p.L4515P|RYR3_ENST00000559917.1_3'UTR NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4520 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.L4519P(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTTGATGGCCTATATATCACC 0.502000 3 77 0 0 0.004672 0 0 NETO1 81832 broad.mit.edu 37 18 70526210 70526210 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr18:70526210G>A ENST00000327305.6 - 4 977 c.320C>T c.(319-321)cCt>cTt p.P107L NETO1_ENST00000583169.1_Missense_Mutation_p.P107L|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.P106L|NETO1_ENST00000299430.2_Missense_Mutation_p.P106L NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 107 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.P106L(1)|p.P107L(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AAAGCCAAAAGGTCCATCTCG 0.378000 22 67 0 0 0.010504 0 0 RARS2 57038 broad.mit.edu 37 6 88229941 88229941 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:88229941C>G ENST00000369536.5 - 13 1114 c.1069G>C c.(1069-1071)Gta>Cta p.V357L NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 357 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding p.V357L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATTTGGAATACTTGCTGAAAA 0.343000 9 163 0 0 0.008291 0 0 MUC17 140453 broad.mit.edu 37 7 100685025 100685025 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:100685025C>T ENST00000306151.4 + 3 10392 c.10328C>T c.(10327-10329)gCt>gTt p.A3443V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3443 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A3443V(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTACAATCGCTGAAGGTACC 0.507000 96 416 0 0 0.014410 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52991905 52991905 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:52991905C>T ENST00000371544.3 - 2 310 c.48G>A c.(46-48)aaG>aaA p.K16K ZCCHC11_ENST00000355809.4_Silent_p.K16K|ZCCHC11_ENST00000257177.4_Silent_p.K16K NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 16 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding p.K16K(1) NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AAATAACATTCTTCTTTGGTT 0.303000 13 32 0 0 0.001855 0 0 KLHL38 340359 broad.mit.edu 37 8 124658213 124658213 + Nonsense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:124658213A>T ENST00000325995.7 - 3 1535 c.1512T>A c.(1510-1512)tgT>tgA p.C504* CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 504 C -> Y (in dbSNP:rs11779866). p.C504*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TCATGTCCGCACATTTGACAA 0.512000 6 80 0 0 0.001168 0 0 KDM1A 23028 broad.mit.edu 37 1 23409697 23409697 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:23409697G>A ENST00000400181.4 + 21 2575 c.2471G>A c.(2470-2472)gGa>gAa p.G824E KDM1A_ENST00000356634.3_Missense_Mutation_p.G800E|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.G824E NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 800 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding p.G824E(1)|p.G800E(1) breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TTCTTTGCGGGAGAACATACG 0.473000 8 70 0 0 0.004482 0 0 ALDOA 226 broad.mit.edu 37 16 30080144 30080144 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:30080144G>C ENST00000566897.1 + 8 1537 c.385G>C c.(385-387)Gat>Cat p.D129H ALDOA_ENST00000395248.1_Missense_Mutation_p.D183H|ALDOA_ENST00000563060.2_Missense_Mutation_p.D129H|ALDOA_ENST00000412304.2_Missense_Mutation_p.D129H|ALDOA_ENST00000564595.2_Missense_Mutation_p.D183H|ALDOA_ENST00000569798.1_Missense_Mutation_p.D129H|ALDOA_ENST00000569545.1_Missense_Mutation_p.D129H|ALDOA_ENST00000338110.5_Missense_Mutation_p.D129H|ALDOA_ENST00000564546.1_Missense_Mutation_p.D129H|ALDOA_ENST00000395240.3_Missense_Mutation_p.D129H P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 129 D -> G (in GSD12; thermolabile). 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 p.D129H(1) breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 CTTAGGGTTGGATGGGCTGTC 0.597000 OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 87 0 0 0.002450 0 0 C7 730 broad.mit.edu 37 5 40976868 40976868 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:40976868G>T ENST00000313164.9 + 16 2450 c.2091G>T c.(2089-2091)caG>caT p.Q697H C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 697 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.Q697H(1) Ovarian(839;0.0112) CGTTAACACAGGCAGTGCCTA 0.428000 3 29 6.4e-05 6.97548e-05 0.004672 1 0 GPBP1L1 60313 broad.mit.edu 37 1 46120260 46120260 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:46120260C>A ENST00000355105.3 - 6 1792 c.432G>T c.(430-432)aaG>aaT p.K144N GPBP1L1_ENST00000290795.3_Missense_Mutation_p.K144N NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.K144N(1) GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) TGTCTTCTTTCTTTTCTTCCC 0.438000 19 98 2.94398e-08 3.39364e-08 0.007413 1 0 C1orf141 400757 broad.mit.edu 37 1 67592863 67592863 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:67592863C>A ENST00000371007.2 - 3 170 c.61G>T c.(61-63)Gcc>Tcc p.A21S C1orf141_ENST00000544837.1_Missense_Mutation_p.A21S|C1orf141_ENST00000371006.1_Missense_Mutation_p.A21S NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 21 p.A21S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 GTTCTTCTGGCCAAGATTATC 0.313000 28 108 1.62565e-12 2.09086e-12 0.012213 1 0 BCL11B 64919 broad.mit.edu 37 14 99641943 99641943 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:99641943C>T ENST00000345514.2 - 3 1283 c.1017G>A c.(1015-1017)ccG>ccA p.P339P BCL11B_ENST00000357195.3_Silent_p.P410P|BCL11B_ENST00000443726.2_Silent_p.P216P NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 410 nucleus zinc ion binding p.P410P(1) NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GGGGCATGGGCGGCAGCGGCG 0.706000 T TLX3 T-ALL 4 23 0 0 0.009096 0 0 SPEM1 374768 broad.mit.edu 37 17 7324850 7324850 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:7324850C>A ENST00000323675.3 + 3 881 c.856C>A c.(856-858)Ccc>Acc p.P286T RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 286 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane p.P286T(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) CGGCTGCTACCCCCTAGCCTC 0.592000 22 18 5.26018e-13 6.87605e-13 0.012319 1 0 PALD1 27143 broad.mit.edu 37 10 72300887 72300887 + Silent SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr10:72300887G>T ENST00000263563.6 + 16 2206 c.1938G>T c.(1936-1938)cgG>cgT p.R646R NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 p.R646R(1) AGGCCCTGCGGGCCGCCCTCT 0.637000 OREG0020239 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 90 1.02687e-29 1.55586e-29 0.013114 1 0 KIF4B 285643 broad.mit.edu 37 5 154396412 154396412 + Missense_Mutation SNP A A T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:154396412A>T ENST00000435029.4 + 1 3153 c.2993A>T c.(2992-2994)cAg>cTg p.Q998L NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 998 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.Q998L(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATCCTCCTCCAGGTAGCCAGC 0.423000 34 79 0 0 0.013726 0 0 SMC1A 8243 broad.mit.edu 37 X 53409448 53409448 + Silent SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chrX:53409448C>A ENST00000322213.4 - 21 3391 c.3264G>T c.(3262-3264)ctG>ctT p.L1088L NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 1088 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity p.L1088L(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 TATTGCGGGACAGGGCCTTAT 0.522000 11 9 0.000673444 0.000714529 0.008291 1 0 ATP8B1 5205 broad.mit.edu 37 18 55315736 55315736 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr18:55315736C>A ENST00000536015.1 - 28 3859 c.3740G>T c.(3739-3741)cGc>cTc p.R1247L ATP8B1_ENST00000283684.4_Missense_Mutation_p.R1247L|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1247 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R1247L(1) breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GTCCCCGGTGCGCCTGTACTC 0.607000 20 40 6.44725e-10 7.81485e-10 0.014323 1 0 AGRN 375790 broad.mit.edu 37 1 978964 978964 + Silent SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:978964C>G ENST00000379370.2 + 9 1700 c.1650C>G c.(1648-1650)acC>acG p.T550T NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 550 Kazal-like 6. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.T550T(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) AGGCCGAGACCGGGCGCTGCG 0.692000 13 40 0 0 0.002450 0 0 ATP13A4 84239 broad.mit.edu 37 3 193188773 193188773 + Missense_Mutation SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:193188773T>A ENST00000342695.4 - 9 1140 c.818A>T c.(817-819)cAa>cTa p.Q273L ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q273L|ATP13A4_ENST00000295548.3_Missense_Mutation_p.Q273L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 273 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.Q273L(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTCCAGCTCTTGAACTCCAGC 0.423000 44 137 0 0 0.014410 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38189081 38189081 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:38189081C>T ENST00000317025.8 - 5 1450 c.933G>A c.(931-933)caG>caA p.Q311Q WHSC1L1_ENST00000316985.3_Silent_p.Q311Q|WHSC1L1_ENST00000527502.1_Silent_p.Q311Q|WHSC1L1_ENST00000433384.2_Silent_p.Q311Q NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 311 PWWP 1. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding p.Q311Q(2) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGCTAAAAAACTGGACATGAT 0.403000 T NUP98 AML 10 659 0 0 0.006214 0 0 NBAS 51594 broad.mit.edu 37 2 15701345 15701345 + Silent SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:15701345G>C ENST00000281513.5 - 1 109 c.84C>G c.(82-84)gtC>gtG p.V28V NBAS_ENST00000441750.1_Silent_p.V28V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 28 p.V28V(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ACTCGGTGTTGACCAACAAGT 0.622000 6 175 0 0 0.001168 0 0 DCDC1 341019 broad.mit.edu 37 11 31327171 31327171 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:31327171T>C ENST00000597505.1 - 4 744 c.745A>G c.(745-747)Aaa>Gaa p.K249E DCDC1_ENST00000452803.1_Missense_Mutation_p.K249E P59894 DCDC1_HUMAN doublecortin domain containing 1 249 Doublecortin. intracellular signal transduction p.K249E(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CCTTTAATTTTTTTGAATGGA 0.383000 37 90 0 0 0.006230 0 0 CSMD3 114788 broad.mit.edu 37 8 113363403 113363403 + Splice_Site SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:113363403C>T ENST00000297405.5 - 40 6570 c.e40+1 CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 integral to membrane|plasma membrane p.?(4) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTTAACTTACCTAAACAAAT 0.308000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 95 0 0 0.005443 0 0 ZNF304 57343 broad.mit.edu 37 19 57868288 57868288 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:57868288G>T ENST00000391705.3 + 4 1335 c.1051G>T c.(1051-1053)Gtt>Ttt p.V351F ZNF304_ENST00000598744.1_Missense_Mutation_p.V309F|ZNF304_ENST00000443917.2_Missense_Mutation_p.V398F|ZNF304_ENST00000282286.5_Missense_Mutation_p.V351F NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V351F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CTCCCACCTTGTTCAGCACCA 0.463000 27 49 1.33986e-20 1.92095e-20 0.004656 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17698928 17698928 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:17698928C>G ENST00000399080.2 - 1 778 c.755G>C c.(754-756)aGa>aCa p.R252T NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 252 p.R252T(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCCGCTATCTCTAAAATAGCT 0.338000 12 93 0 0 0.013537 0 0 CSMD3 114788 broad.mit.edu 37 8 113323386 113323386 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:113323386C>T ENST00000297405.5 - 50 7950 c.7706G>A c.(7705-7707)tGt>tAt p.C2569Y CSMD3_ENST00000352409.3_Missense_Mutation_p.C2499Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2465Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2529Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2569 Sushi 14. integral to membrane|plasma membrane p.C2529Y(1)|p.C2569Y(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGTGTACTACAGTAGAAAGC 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 47 0 0 0.002780 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204197888 204197888 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:204197888C>T ENST00000272203.3 - 20 3169 c.2853G>A c.(2851-2853)gtG>gtA p.V951V PLEKHA6_ENST00000414478.1_Silent_p.V971V NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 951 p.V951V(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TGATCCTCTCCACCTTCTTCT 0.552000 11 87 0 0 0.013537 0 0 DCC 1630 broad.mit.edu 37 18 51025817 51025817 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr18:51025817C>A ENST00000442544.2 + 27 4664 c.4048C>A c.(4048-4050)Cta>Ata p.L1350I RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.L983I NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1350 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.L1350I(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TAATCCTTTGCTACCTCCACC 0.483000 72 109 5.94106e-25 8.80157e-25 0.014410 1 0 FAT4 79633 broad.mit.edu 37 4 126412622 126412622 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr4:126412622A>G ENST00000394329.3 + 17 14658 c.14645A>G c.(14644-14646)gAt>gGt p.D4882G FAT4_ENST00000335110.5_Missense_Mutation_p.D3123G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4882 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D4825G(1)|p.D4882G(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GATGATGAAGATAATTATGGA 0.502000 3 45 0 0 0.004672 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978639 148978639 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:148978639G>T ENST00000434415.1 + 6 1009 c.846G>T c.(844-846)gaG>gaT p.E282D ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 282 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.E282D(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) CTGAAGACGAGATGACGCCTG 0.622000 28 45 7.01153e-11 8.62958e-11 0.007291 1 0 DST 667 broad.mit.edu 37 6 56485224 56485224 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:56485224A>G ENST00000370765.6 - 23 3715 c.3608T>C c.(3607-3609)aTt>aCt p.I1203T DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1544 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.I1203T(2) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTCTCTCACAATGGTTTCAAG 0.498000 18 87 0 0 0.006122 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988167 135988167 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:135988167C>G ENST00000401392.1 - 13 2082 c.1870G>C c.(1870-1872)Ggc>Cgc p.G624R ZRANB3_ENST00000264159.6_Missense_Mutation_p.G624R|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.G624R Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 624 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding p.G89R(1)|p.G624R(1) NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CATTGCCAGCCCTCTACAGGA 0.488000 15 68 0 0 0.002450 0 0 OR2G6 391211 broad.mit.edu 37 1 248685829 248685829 + Missense_Mutation SNP C C A rs139958354 by1000genomes TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:248685829C>A ENST00000343414.4 + 1 914 c.882C>A c.(880-882)aaC>aaA p.N294K NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N294K(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCTGAGAAACAAAGATGTGA 0.443000 41 56 6.1244e-12 7.82671e-12 0.007835 1 0 PXDN 7837 broad.mit.edu 37 2 1643180 1643180 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:1643180C>T ENST00000252804.4 - 20 4017 c.3967G>A c.(3967-3969)Ggg>Agg p.G1323R NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1323 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.G1323R(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TTGAACTGCCCCCTGGTCCTA 0.483000 22 63 0 0 0.014323 0 0 STAT6 6778 broad.mit.edu 37 12 57501993 57501993 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:57501993G>A ENST00000300134.3 - 2 394 c.69C>T c.(67-69)ccC>ccT p.P23P STAT6_ENST00000538913.2_Intron|STAT6_ENST00000537215.2_Intron|STAT6_ENST00000454075.3_Silent_p.P23P|STAT6_ENST00000556155.1_Silent_p.P23P|STAT6_ENST00000543873.2_Silent_p.P23P NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 23 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.P23P(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GCAGGTGTTGGGGAAAGTCGA 0.582000 4 26 0 0 0.000602 0 0 MAST1 22983 broad.mit.edu 37 19 12979910 12979910 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:12979910G>C ENST00000251472.4 + 22 2843 c.2804G>C c.(2803-2805)aGt>aCt p.S935T NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 935 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.S935T(2) NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CCCCTTGCTAGTCCCATGTCT 0.562000 12 60 0 0 0.002450 0 0 CFAP54 144535 broad.mit.edu 37 12 97078910 97078910 + Missense_Mutation SNP A A C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:97078910A>C ENST00000524981.3 + 9 1261 c.1261A>C c.(1261-1263)Aac>Cac p.N421H Q6ZTY8 CL063_HUMAN 395 p.N395H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CAATGTCACCAACAGTCATTC 0.458000 19 42 0 0 0.007413 0 0 IQCE 23288 broad.mit.edu 37 7 2645525 2645525 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:2645525C>T ENST00000402050.2 + 20 1943 c.1759C>T c.(1759-1761)Cgc>Tgc p.R587C IQCE_ENST00000404984.1_Missense_Mutation_p.R536C|IQCE_ENST00000325979.7_Missense_Mutation_p.R522C|IQCE_ENST00000438376.2_Missense_Mutation_p.R571C NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 587 R -> H (in dbSNP:rs10950797). p.R587C(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) TCCTGTGCCCCGCGTTCCGAG 0.701000 3 23 0 0 0.004672 0 0 SI 6476 broad.mit.edu 37 3 164760926 164760926 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:164760926G>C ENST00000264382.3 - 17 1987 c.1925C>G c.(1924-1926)aCa>aGa p.T642R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 642 Isomaltase. 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 p.T642R(1) 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) AAGTTCTTCTGTGGTTTCAGC 0.368000 HNSCC(35;0.089) 26 28 0 0 0.005443 0 0 DGKB 1607 broad.mit.edu 37 7 14378177 14378177 + Silent SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:14378177G>C ENST00000403951.2 - 23 2507 c.2088C>G c.(2086-2088)acC>acG p.T696T DGKB_ENST00000444700.2_Silent_p.T677T|DGKB_ENST00000402815.1_Silent_p.T695T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.T696T|DGKB_ENST00000258767.5_Silent_p.T696T|DGKB_ENST00000407950.1_Silent_p.T688T|DGKB_ENST00000406247.3_Silent_p.T696T Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 696 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding p.T696T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CATCTGTGACGGTGGTCCTTT 0.393000 107 154 0 0 0.014410 0 0 ZNF431 170959 broad.mit.edu 37 19 21366254 21366254 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:21366254G>T ENST00000311048.7 + 5 1292 c.1148G>T c.(1147-1149)tGg>tTg p.W383L ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.W383F(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 GGCTTTAATTGGTCCTCAACC 0.348000 15 21 1.49906e-05 1.65186e-05 0.002450 1 0 RELN 5649 broad.mit.edu 37 7 103215998 103215998 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:103215998T>C ENST00000424685.2 - 29 4459 c.4300A>G c.(4300-4302)Act>Gct p.T1434A RELN_ENST00000428762.1_Missense_Mutation_p.T1434A|RELN_ENST00000343529.5_Missense_Mutation_p.T1434A P78509 RELN_HUMAN reelin 1434 EGF-like 3. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.T1434A(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCTTACCAGTATATCCCAGG 0.403000 35 38 0 0 0.003755 0 0 COL6A3 1293 broad.mit.edu 37 2 238277679 238277679 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:238277679C>G ENST00000295550.4 - 10 4879 c.4427G>C c.(4426-4428)gGg>gCg p.G1476A COL6A3_ENST00000347401.3_Missense_Mutation_p.G1275A|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1270A|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1276A|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1270A|COL6A3_ENST00000472056.1_Missense_Mutation_p.G869A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1476 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.G1476A(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGCACGACCCCAACTCTCAC 0.517000 5 37 0 0 0.001168 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113563456 113563456 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:113563456G>T ENST00000358160.4 + 2 626 c.134G>T c.(133-135)gGg>gTg p.G45V GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 45 integral to membrane p.G45V(1) NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 AAAAAACAGGGGCCAAATTTA 0.358000 20 86 6.33239e-15 8.55728e-15 0.010504 1 0 ALK 238 broad.mit.edu 37 2 29551313 29551313 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:29551313G>A ENST00000389048.3 - 6 2223 c.1317C>T c.(1315-1317)agC>agT p.S439S ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 439 LDL-receptor class A. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.S439S(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AAGTGAAGGAGCTCTGCAGGG 0.587000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 26 36 0 0 0.005443 0 0 HEMGN 55363 broad.mit.edu 37 9 100693073 100693073 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:100693073G>T ENST00000259456.3 - 4 747 c.604C>A c.(604-606)Cct>Act p.P202T NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 202 cell differentiation|multicellular organismal development p.P202T(1) NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) CATGTGTTAGGAGAGTTGTCT 0.383000 28 233 3.73808e-20 5.30224e-20 0.005443 1 0 OR7C1 26664 broad.mit.edu 37 19 14910285 14910285 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:14910285C>G ENST00000248073.2 - 1 738 c.664G>C c.(664-666)Gtt>Ctt p.V222L OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 222 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity p.V222L(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 ATAGAGAAAACAATTTTATAG 0.438000 5 43 0 0 0.000602 0 0 NTAN1 123803 broad.mit.edu 37 16 15141370 15141370 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:15141370G>A ENST00000287706.3 - 4 380 c.288C>T c.(286-288)acC>acT p.T96T PDXDC1_ENST00000535621.2_Intron NM_173474.2 NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 96 cytoplasm p.T96T(1) endometrium(1)|large_intestine(4)|lung(3) 8 CTTTGGTGTCGGTTCCGTCAC 0.507000 3 87 0 0 0.009096 0 0 ZNF613 79898 broad.mit.edu 37 19 52448120 52448120 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:52448120G>T ENST00000293471.6 + 6 1663 c.984G>T c.(982-984)agG>agT p.R328S ZNF613_ENST00000391794.4_Missense_Mutation_p.R292S NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R328S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) TCTCCAAAAGGTCCAGGCTCA 0.473000 20 62 0.00152264 0.00160701 0.010504 1 0 LPHN2 23266 broad.mit.edu 37 1 82408796 82408796 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:82408796G>A ENST00000370728.1 + 8 1186 c.541G>A c.(541-543)Gat>Aat p.D181N LPHN2_ENST00000319517.6_Missense_Mutation_p.D181N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D185N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D181N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D181N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D181N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D181N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D181N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.D181N O95490 LPHN2_HUMAN latrophilin 2 181 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.D181N(2) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTATCGTACCGATACTTTAAT 0.393000 29 66 0 0 0.010818 0 0 C1orf173 127254 broad.mit.edu 37 1 75038834 75038834 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:75038834C>A ENST00000326665.5 - 14 2778 c.2560G>T c.(2560-2562)Ggg>Tgg p.G854W C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 854 Glu-rich. p.G854W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTGACCCCCCTTCACCCAGC 0.527000 44 99 1.03325e-14 1.37766e-14 0.011902 1 0 SRCAP 10847 broad.mit.edu 37 16 30748760 30748760 + Missense_Mutation SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:30748760C>T ENST00000262518.4 + 34 7784 c.7399C>T c.(7399-7401)Ccc>Tcc p.P2467S SRCAP_ENST00000395059.2_Missense_Mutation_p.P2405S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2309S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2467 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.P2467S(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) tgccccagtacccatttcagc 0.567000 4 17 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7574026 7574026 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:7574026C>A ENST00000269305.4 - 10 1190 c.1001G>T c.(1000-1002)gGg>gTg p.G334V TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.G334V|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 334 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; 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.0?(8)|p.G334V(7)|p.I332fs*5(1)|p.?(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) GCGCTCACGCCCACGGATCTG 0.522000 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) 26 19 1.17739e-12 1.52413e-12 0.005443 1 0 KIF19 124602 broad.mit.edu 37 17 72351374 72351374 + Silent SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:72351374C>A ENST00000389916.4 + 20 3058 c.2920C>A c.(2920-2922)Cga>Aga p.R974R NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 974 R -> Q (in dbSNP:rs9675190). microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R974R(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 TGGTGGTTCTCGACGGGCTAC 0.667000 13 56 2.27111e-07 2.5735e-07 0.013537 1 0 SLC39A3 29985 broad.mit.edu 37 19 2732928 2732928 + Missense_Mutation SNP C C A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:2732928C>A ENST00000269740.4 - 3 1095 c.766G>T c.(766-768)Gtg>Ttg p.V256L AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.V256L NM_144564.4 NP_653165.2 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), member 3 256 integral to membrane|plasma membrane zinc ion transmembrane transporter activity p.V256L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 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)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCCCGGCACGCCCTGGGCG 0.697000 26 14 6.36457e-07 7.17135e-07 0.003954 1 0 MAD2L1BP 9587 broad.mit.edu 37 6 43607850 43607850 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:43607850C>T ENST00000451025.2 + 4 711 c.501C>T c.(499-501)ctC>ctT p.L167L MAD2L1BP_ENST00000372171.4_Silent_p.L135L NM_001003690.1 NP_001003690.1 Q15013 MD2BP_HUMAN MAD2L1 binding protein 135 mitotic cell cycle checkpoint|regulation of exit from mitosis cytoplasm|nucleus|spindle protein binding p.L135L(1) breast(1)|large_intestine(1)|lung(3) 5 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AGAGTGTCCTCAGCCACCTGG 0.562000 14 52 0 0 0.001855 0 0 FSHR 2492 broad.mit.edu 37 2 49216143 49216143 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:49216143A>G ENST00000406846.2 - 6 616 c.497T>C c.(496-498)gTg>gCg p.V166A FSHR_ENST00000304421.4_Intron|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.V166A|FSHR_ENST00000541117.1_5'UTR NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 166 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.V166A(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GCTCAGCCCCACGAAAGAATT 0.338000 Gonadal Dysgenesis, 46 XX 9 16 0 0 0.008291 0 0 WDR64 128025 broad.mit.edu 37 1 241946635 241946635 + Missense_Mutation SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:241946635T>A ENST00000366552.2 + 22 2834 c.2627T>A c.(2626-2628)gTa>gAa p.V876E WDR64_ENST00000437684.2_Missense_Mutation_p.V709E NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 876 p.V876E(1)|p.V429E(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) GTAATCTATGTAGAAGAAAAA 0.408000 8 44 0 0 0.003080 0 0 MFSD1 64747 broad.mit.edu 37 3 158527041 158527041 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr3:158527041C>T ENST00000415822.2 + 6 802 c.661C>T c.(661-663)Ctg>Ttg p.L221L MFSD1_ENST00000392813.4_Silent_p.L182L|MFSD1_ENST00000264266.8_Silent_p.L172L NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 172 transmembrane transport integral to membrane p.L172L(1)|p.L221L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) AGAATTAAACCTGGTGTTTGG 0.353000 10 55 0 0 0.008291 0 0 OR4S1 256148 broad.mit.edu 37 11 48328205 48328205 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr11:48328205G>A ENST00000319988.1 + 1 431 c.431G>A c.(430-432)gGg>gAg p.G144E NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G144E(1) endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CTGCTAGCGGGGGCCTCCTGG 0.562000 24 72 0 0 0.002780 0 0 CXCR2 3579 broad.mit.edu 37 2 219000278 219000278 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:219000278G>T ENST00000318507.2 + 3 1181 c.754G>T c.(754-756)Gtc>Ttc p.V252F NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 252 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity p.V252F(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GGCCATGCGGGTCATCTTTGC 0.587000 41 175 1.8453e-21 2.66469e-21 0.010771 1 0 ASXL2 55252 broad.mit.edu 37 2 25966399 25966399 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:25966399T>C ENST00000435504.4 - 13 3100 c.2807A>G c.(2806-2808)aAt>aGt p.N936S ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.N908S|ASXL2_ENST00000404843.1_Intron Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 936 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding p.N936S(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGGGTCCATTCATGTTTAA 0.478000 111 279 0 0 0.014410 0 0 OSR1 130497 broad.mit.edu 37 2 19553013 19553013 + Missense_Mutation SNP G G C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr2:19553013G>C ENST00000536433.1 - 1 3664 c.554C>G c.(553-555)aCc>aGc p.T185S OSR1_ENST00000272223.2_Missense_Mutation_p.T185S Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 185 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding p.T185S(1) breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) GTAGGACTTGGTGAAGTGGCG 0.562000 25 129 0 0 0.003330 0 0 PSKH2 85481 broad.mit.edu 37 8 87060894 87060894 + Missense_Mutation SNP A A C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:87060894A>C ENST00000276616.2 - 3 1029 c.955T>G c.(955-957)Tgg>Ggg p.W319G NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 319 Protein kinase. ATP binding|protein serine/threonine kinase activity p.W319G(1) NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) GTGATCACCCAGGGATGGTCC 0.552000 10 93 0 0 0.001855 0 0 ATP4A 495 broad.mit.edu 37 19 36044674 36044674 + Missense_Mutation SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:36044674G>A ENST00000262623.3 - 17 2567 c.2539C>T c.(2539-2541)Cca>Tca p.P847S NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 847 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding p.P847S(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GGGTTGCGTGGACGCAGGTGC 0.607000 4 17 0 0 0.009096 0 0 TIE1 7075 broad.mit.edu 37 1 43777704 43777705 + Frame_Shift_Ins INS - - A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:43777704_43777705insA ENST00000372476.3 + 11 1611_1612 c.1532_1533insA c.(1531-1533)caafs p.Q511fs TIE1_ENST00000433781.2_Frame_Shift_Ins_p.Q156fs NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 511 Fibronectin type-III 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AACCTGAGGCCAAAGACAGGAT 0.594 42 75 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186023004 186023004 + Frame_Shift_Del DEL G G - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr1:186023004delG ENST00000271588.4 + 44 6977 c.6748delG c.(6748-6750)ggfs p.G2251fs HMCN1_ENST00000367492.2_Frame_Shift_Del_p.G2251fs NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2251 Ig-like C2-type 20. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AATTTTATCTGGGGGCAGGCA 0.423 13 60 --- --- --- --- SIMC1 375484 broad.mit.edu 37 5 175717845 175717845 + Frame_Shift_Del DEL C C - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr5:175717845delC ENST00000443967.1 + 4 1668 c.1261delC c.(1261-1263)cafs p.P421fs SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Frame_Shift_Del_p.P440fs SUMO-interacting motifs containing 1 ATCACGAACACCACAAGGTGG 0.488 7 22 --- --- --- --- COL11A2 1302 broad.mit.edu 37 6 33156836 33156836 + Frame_Shift_Del DEL C C - rs148765616 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr6:33156836delC ENST00000341947.2 - 3 589 c.362delG c.(361-363)ccfs p.R121fs COL11A2_ENST00000395194.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.R121fs NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 121 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ATACAGGAAGCGGACAGGTCG 0.617 64 81 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 7 375 --- --- --- --- COL1A2 1278 broad.mit.edu 37 7 94024394 94024394 + Frame_Shift_Del DEL A A - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:94024394delA ENST00000297268.6 + 1 522 c.51delA c.(49-51)ttfs p.L17fs NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 17 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CAGTAACCTTATGCCTAGCAA 0.522 HNSCC(75;0.22) OREG0018169 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 195 --- --- --- --- CHRM2 1129 broad.mit.edu 37 7 136699767 136699768 + Frame_Shift_Ins INS - - C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr7:136699767_136699768insC ENST00000445907.2 + 3 683_684 c.155_156insC c.(154-156)ccafs p.P52fs AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Ins_p.P52fs|CHRM2_ENST00000320658.5_Frame_Shift_Ins_p.P52fs|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Ins_p.P52fs|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Frame_Shift_Ins_p.P52fs|CHRM2_ENST00000397608.3_Frame_Shift_Ins_p.P52fs NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 52 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.R52H(3) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AAAGTCAACCGCCACCTCCAGA 0.446 60 101 --- --- --- --- SGK223 157285 broad.mit.edu 37 8 8235375 8235376 + Frame_Shift_Del DEL AG AG - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:8235375_8235376delAG ENST00000520004.1 - 3 807_808 c.543_544delCT c.(541-546)agtcfs p.SF181fs SGK223_ENST00000330777.4_Frame_Shift_Del_p.SF181fs Q86YV5 SG223_HUMAN 181 ATP binding|non-membrane spanning protein tyrosine kinase activity TCCTCCGGGAAGCTCACCGGGT 0.599 76 81 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr8:38205092delT ENST00000317025.8 - 2 1115 c.598delA c.(598-600)gcfs p.S200fs WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 200 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGCTTGTTGCTTTTTTTCCTC 0.378 T NUP98 AML 10 2432 --- --- --- --- PRUNE2 158471 broad.mit.edu 37 9 79325382 79325382 + Frame_Shift_Del DEL T T - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:79325382delT ENST00000428286.1 - 8 1931 c.731delA c.(730-732)atfs p.N244fs PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.N603fs Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 603 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTTTCCAGTATTTTTTAGCCT 0.438 17 76 --- --- --- --- ALDOB 229 broad.mit.edu 37 9 104190767 104190770 + Frame_Shift_Del DEL TTTG TTTG - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:104190767_104190770delTTTG ENST00000374855.4 - 4 484_487 c.360_363delCAAA c.(358-363)aafs p.NK120fs ALDOB_ENST00000468981.2_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 120 Missing (in HFI). fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) TGGTGGTTTCTTTGTTTGTTCCTG 0.402 35 81 --- --- --- --- GPSM1 26086 broad.mit.edu 37 9 139252515 139252515 + Frame_Shift_Del DEL G G - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr9:139252515delG ENST00000440944.1 + 14 2091 c.1871delG c.(1870-1872)cgfs p.R624fs GPSM1_ENST00000429455.1_Frame_Shift_Del_p.R115fs|GPSM1_ENST00000392944.1_Frame_Shift_Del_p.R115fs NM_001145638.1 NP_001139110.1 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 624 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GTACTGCCCCGGGGCCCTACC 0.687 9 25 --- --- --- --- SCARB1 949 broad.mit.edu 37 12 125263021 125263022 + Frame_Shift_Ins INS - - G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr12:125263021_125263022insG ENST00000339570.5 - 12 1708_1709 c.1512_1513insC c.(1510-1515)cccagcfs p.S505fs SCARB1_ENST00000261693.6_3'UTR|SCARB1_ENST00000415380.2_3'UTR|SCARB1_ENST00000376788.1_3'UTR NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 0 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) GCTCAGGCTGTGGGGCTGGGGG 0.683 6 6 --- --- --- --- EML5 161436 broad.mit.edu 37 14 89181381 89181381 + Frame_Shift_Del DEL C C - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr14:89181381delC ENST00000554922.1 - 9 1594 c.1346delG c.(1345-1347)gafs p.G449fs EML5_ENST00000380664.5_Frame_Shift_Del_p.G449fs|EML5_ENST00000352093.5_Frame_Shift_Del_p.G449fs NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 449 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ACTAAGGGATCCCAAACACTC 0.403 14 63 --- --- --- --- RPGRIP1L 23322 broad.mit.edu 37 16 53706851 53706852 + Frame_Shift_Ins INS - - T rs148808566 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr16:53706851_53706852insT ENST00000262135.4 - 8 1052_1053 c.959_960insA c.(958-960)ccgfs p.P320fs RPGRIP1L_ENST00000379925.3_Frame_Shift_Ins_p.P320fs|RPGRIP1L_ENST00000564374.1_Frame_Shift_Ins_p.P320fs|RPGRIP1L_ENST00000563746.1_Frame_Shift_Ins_p.P320fs NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 320 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ATTTTAAACGCTGCTCTTTAAG 0.361 24 38 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 3 6 --- --- --- --- SMURF2P1 0 broad.mit.edu 37 17 28999182 28999182 + RNA DEL G G - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr17:28999182delG ENST00000578265.1 + 0 377 ATAAGCCAAAGGGAAAAAAAA 0.373 27 74 --- --- --- --- KCTD1 284252 broad.mit.edu 37 18 24128325 24128327 + In_Frame_Del DEL TCC TCC - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr18:24128325_24128327delTCC ENST00000417602.1 - 1 173_175 c.174_176delGGA c.(172-177)gaa>ga p.EE62del KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 0 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) ctcctcctcttcctcctcctcct 0.724 2 4 --- --- --- --- ALKBH6 84964 broad.mit.edu 37 19 36505076 36505076 + Splice_Site DEL C C - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr19:36505076delC ENST00000378875.3 - 1 65 c.e1+1 AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_Splice_Site|ALKBH6_ENST00000486389.1_5'UTR|ALKBH6_ENST00000252984.7_Splice_Site|ALKBH6_ENST00000495116.2_Splice_Site NM_032878.3|NM_198867.1 NP_116267.3|NP_942567.1 Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 (E. coli) 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) CCAAAACTGACCGTCCACCAG 0.587 21 47 --- --- --- --- SOGA1 140710 broad.mit.edu 37 20 35467637 35467643 + Frame_Shift_Del DEL GACCACG GACCACG - rs151235047 by1000genomes TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1624af6f-05a6-474c-ba49-9754938979c6 e276abe0-5a45-458f-abe9-6ab62a4d9c36 g.chr20:35467637_35467643delGACCACG ENST00000237536.4 - 2 1230_1236 c.889_895delCGTGGTC c.(889-897)tgfs p.RGL297fs SOGA1_ENST00000279034.5_Frame_Shift_Del_p.RGL59fs|SOGA1_ENST00000357779.3_Frame_Shift_Del_p.RGL59fs NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 59 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TCCTGCTCCAGACCACGGATAAGCTCG 0.647 11 136 --- --- --- ---