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 OR5K4 403278 broad.mit.edu 37 3 98072851 98072851 + Missense_Mutation SNP G G A rs139874815 byFrequency TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:98072851G>A ENST00000354924.2 + 1 154 c.154G>A c.(154-156)Gag>Aag p.E52K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 AATTTATGTAGAGCGTCGTCT 0.463000 17 227 0 0 0.028581 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39140536 39140536 + Missense_Mutation SNP A A T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr9:39140536A>T ENST00000297668.6 - 12 1929 c.1856T>A c.(1855-1857)cTt>cAt p.L619H CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L531H|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L526H|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L619H|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L619H NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 619 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GCAGTACACAAGAAATGGTCC 0.438000 6 61 0 0 0.029380 0 0 RBM47 54502 broad.mit.edu 37 4 40440107 40440107 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr4:40440107C>G ENST00000319592.4 - 4 1513 c.804G>C c.(802-804)caG>caC p.Q268H RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.Q268H|RBM47_ENST00000381795.6_Missense_Mutation_p.Q268H|RBM47_ENST00000514014.1_Missense_Mutation_p.Q230H|RBM47_ENST00000381793.2_Missense_Mutation_p.Q268H A0AV96 RBM47_HUMAN RNA binding motif protein 47 268 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CGGGGTTGAACTGGCCGAAGC 0.592000 5 75 0 0 0.021553 0 0 ATG4A 115201 broad.mit.edu 37 X 107381181 107381181 + Missense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:107381181G>A ENST00000372232.3 + 8 854 c.695G>A c.(694-696)gGc>gAc p.G232D ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 232 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity p.G232D(2) endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 CTTCGCCTGGGCATAAACCAA 0.522000 4 130 0 0 0.014758 0 0 NANOS3 342977 broad.mit.edu 37 19 13988290 13988290 + Silent SNP G G T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr19:13988290G>T ENST00000397555.2 + 2 171 c.171G>T c.(169-171)ctG>ctT p.L57L NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000339133.5_Silent_p.L76L NM_001098622.2 NP_001092092.1 P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) 57 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCGAACGCCTGTGCTCTTTCT 0.657000 7 31 0.00307968 0.00326823 0.003080 1 0 WSB1 26118 broad.mit.edu 37 17 25639344 25639344 + Missense_Mutation SNP G G T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr17:25639344G>T ENST00000262394.2 + 9 1531 c.1215G>T c.(1213-1215)caG>caT p.Q405H WSB1_ENST00000348811.2_Missense_Mutation_p.Q259H NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 405 SOCS box. intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AAGAAGTTCAGGAGCTGCCGA 0.478000 24 339 6.07407e-21 6.64951e-21 0.034045 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 58 0 0 0.014758 0 0 MUC5B 727897 broad.mit.edu 37 11 1264737 1264737 + Silent SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:1264737G>A ENST00000447027.1 + 31 6694 c.6636G>A c.(6634-6636)acG>acA p.T2212T MUC5B_ENST00000529681.1_Silent_p.T2209T|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2209 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCCCCACACGGTGCGCACAG 0.662000 18 46 0 0 0.016522 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72013863 72013863 + Missense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:72013863G>A ENST00000378743.3 - 26 5250 c.4892C>T c.(4891-4893)tCa>tTa p.S1631L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1631 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AATAGGACATGATTCCAATAA 0.353000 13 29 0 0 0.013537 0 0 GRIP1 23426 broad.mit.edu 37 12 66786136 66786136 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:66786136C>G ENST00000359742.4 - 19 2656 c.2416G>C c.(2416-2418)Gtg>Ctg p.V806L GRIP1_ENST00000398016.3_Missense_Mutation_p.V754L|GRIP1_ENST00000286445.7_Missense_Mutation_p.V806L Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 806 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 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) CATGAATCCACAGCACTGTCC 0.547000 17 164 0 0 0.006122 0 0 OTOGL 283310 broad.mit.edu 37 12 80750654 80750654 + Missense_Mutation SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:80750654A>C ENST00000458043.2 + 48 5958 c.5952A>C c.(5950-5952)caA>caC p.Q1984H OTOGL_ENST00000547103.1_Missense_Mutation_p.Q1972H|OTOGL_ENST00000546620.1_Missense_Mutation_p.Q3H NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCATGATTCAAGTTCGACAGG 0.348000 5 39 0 0 0.021553 0 0 HNRNPU 3192 broad.mit.edu 37 1 245018852 245018852 + Silent SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:245018852G>A ENST00000444376.2 - 12 2403 c.2169C>T c.(2167-2169)ggC>ggT p.G723G HNRNPU_ENST00000283179.9_Silent_p.G742G NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 742 Gly-rich.|RNA-binding RGG-box. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TTCCTCCACCGCCACCACCTC 0.502000 5 91 0 0 0.021553 0 0 INHBC 3626 broad.mit.edu 37 12 57828826 57828826 + Missense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:57828826G>A ENST00000309668.2 + 1 284 c.157G>A c.(157-159)Gac>Aac p.D53N INHBC_ENST00000550133.1_Missense_Mutation_p.D53N NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 53 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 AAGCATCTTGGACAAGCTGCA 0.632000 34 56 0 0 0.021022 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64589985 64589985 + Missense_Mutation SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:64589985T>C ENST00000498707.1 - 24 3839 c.3497A>G c.(3496-3498)cAt>cGt p.H1166R ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H1138R NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1166 TSP type-1 6. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGGGGGAGGATGACATGATGG 0.473000 29 628 0 0 0.017118 0 0 NUP214 8021 broad.mit.edu 37 9 134038526 134038526 + Missense_Mutation SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr9:134038526T>C ENST00000359428.5 + 19 2833 c.2689T>C c.(2689-2691)Tcc>Ccc p.S897P RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S887P|NUP214_ENST00000451030.1_Missense_Mutation_p.S898P|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 897 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GTGGAGCCTGTCCTCGGCTGT 0.488000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 65 0 0 0.014758 0 0 SERPINI1 5274 broad.mit.edu 37 3 167507139 167507139 + Missense_Mutation SNP T T G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:167507139T>G ENST00000295777.5 + 2 654 c.223T>G c.(223-225)Tca>Gca p.S75A SERPINI1_ENST00000446050.2_Missense_Mutation_p.S75A NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 75 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 AATCCGCCACTCAATGGGATA 0.383000 8 29 0 0 0.006214 0 0 PIGR 5284 broad.mit.edu 37 1 207110861 207110861 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:207110861G>C ENST00000356495.4 - 4 807 c.624C>G c.(622-624)aaC>aaG p.N208K NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 208 Ig-like V-type 2. NQ -> DE (in Ref. 6; AA sequence and 7; AA sequence). extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCTGAGTTGGTTGATGACAA 0.483000 4 51 0 0 0.009096 0 0 MYO5C 55930 broad.mit.edu 37 15 52567822 52567822 + Silent SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr15:52567822G>A ENST00000261839.7 - 5 704 c.543C>T c.(541-543)gtC>gtT p.V181V MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Silent_p.V124V NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 181 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CCGATTTGCTGACGGTGGCAA 0.542000 7 95 0 0 0.029380 0 0 PCSK5 5125 broad.mit.edu 37 9 78907175 78907175 + Missense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr9:78907175G>A ENST00000545128.1 + 25 3707 c.3169G>A c.(3169-3171)Gct>Act p.A1057T NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 757 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TACATCTTGCGCTATGGGGTA 0.363000 10 100 0 0 0.020292 0 0 NIPBL 25836 broad.mit.edu 37 5 36962278 36962278 + Missense_Mutation SNP A A G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr5:36962278A>G ENST00000282516.8 + 6 1011 c.512A>G c.(511-513)aAt>aGt p.N171S NIPBL_ENST00000448238.2_Missense_Mutation_p.N171S|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 171 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CCACAGCAAAATAGCCCAGTG 0.433000 8 176 0 0 0.004482 0 0 HNF4G 3174 broad.mit.edu 37 8 76465282 76465282 + Silent SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr8:76465282A>C ENST00000396423.2 + 5 589 c.465A>C c.(463-465)tcA>tcC p.S155S HNF4G_ENST00000354370.1_Silent_p.S118S NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 118 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ACTAGATCTCAGTCTCAAGCC 0.353000 3 19 0 0 0.004672 0 0 UGT1A4 54657 broad.mit.edu 37 2 234627881 234627881 + Missense_Mutation SNP A A G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr2:234627881A>G ENST00000373409.3 + 1 458 c.415A>G c.(415-417)Agg>Ggg p.R139G UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) GGCCCTGATCAGGCACCTGAA 0.453000 4 191 0 0 0.014758 0 0 LRRN4 164312 broad.mit.edu 37 20 6022584 6022584 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr20:6022584G>C ENST00000378858.4 - 5 1531 c.1307C>G c.(1306-1308)tCt>tGt p.S436C NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 436 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 ACCTGCTACAGAGTTGGTCGT 0.637000 6 72 0 0 0.029380 0 0 VGF 7425 broad.mit.edu 37 7 100807585 100807585 + Silent SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:100807585C>G ENST00000249330.2 - 2 779 c.540G>C c.(538-540)acG>acC p.T180T VGF_ENST00000445482.2_Silent_p.T180T NM_003378.3 NP_003369.2 O15240 VGF_HUMAN VGF nerve growth factor inducible 180 response to cAMP extracellular space|transport vesicle growth factor activity cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 9 Lung NSC(181;0.168)|all_lung(186;0.215) CTGCTGCCGCCGTCTCCTGCT 0.667000 3 53 0 0 0.009096 0 0 ZNF22 7570 broad.mit.edu 37 10 45498982 45498982 + Missense_Mutation SNP A A G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:45498982A>G ENST00000298299.3 + 2 759 c.166A>G c.(166-168)Aaa>Gaa p.K56E CEP164P1_ENST00000456938.2_RNA NM_006963.4 NP_008894.2 P17026 ZNF22_HUMAN zinc finger protein 22 56 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) CAAACCCTATAAATGTACTGA 0.433000 9 55 0 0 0.006214 0 0 SLC17A6 57084 broad.mit.edu 37 11 22381014 22381014 + Missense_Mutation SNP G G T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:22381014G>T ENST00000263160.3 + 4 951 c.514G>T c.(514-516)Gca>Tca p.A172S NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 172 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 AATTCCATCAGCAGCCAGAGT 0.398000 7 59 0.00307968 0.00326823 0.003080 1 0 U66061.31 0 broad.mit.edu 37 7 142423696 142423696 + RNA SNP T T G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:142423696T>G ENST00000506718.1 + 0 704 ATCCACAGTGTTGCACAGCCA 0.527000 3 28 0 0 0.004672 0 0 PEX7 5191 broad.mit.edu 37 6 137219309 137219309 + Missense_Mutation SNP T T A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:137219309T>A ENST00000318471.4 + 9 914 c.833T>A c.(832-834)cTt>cAt p.L278H PEX7_ENST00000541292.1_3'UTR NM_000288.3 NP_000279.1 O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 278 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) CCTGACTCTCTTCTTGAAACA 0.338000 4 52 0 0 0.014758 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102312676 102312676 + RNA SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr15:102312676T>C ENST00000561463.1 + 0 14044 AGGAGGTCCATAAGGCCACTC 0.562000 5 57 0 0 0.021553 0 0 NOL4 8715 broad.mit.edu 37 18 31537451 31537451 + Missense_Mutation SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr18:31537451A>C ENST00000261592.5 - 8 1564 c.1267T>G c.(1267-1269)Ttg>Gtg p.L423V NOL4_ENST00000538587.1_Missense_Mutation_p.L349V|NOL4_ENST00000535384.1_Missense_Mutation_p.L138V|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000269185.4_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 423 nucleolus RNA binding p.L423L(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ATTCGGTCCAAGTTTTCATCT 0.493000 7 26 0 0 0.029380 0 0 MTRR 4552 broad.mit.edu 37 5 7873569 7873569 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr5:7873569G>C ENST00000264668.2 + 3 324 c.294G>C c.(292-294)aaG>aaC p.K98N MTRR_ENST00000440940.2_Missense_Mutation_p.K71N|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Intron NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 98 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CAGCCCGCAAGTTTGTTAAGG 0.463000 4 89 0 0 0.009096 0 0 AKAP6 9472 broad.mit.edu 37 14 33292622 33292622 + Missense_Mutation SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr14:33292622A>C ENST00000280979.4 + 13 5773 c.5603A>C c.(5602-5604)cAt>cCt p.H1868P AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1868 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AATTCATCTCATACCCATGAG 0.358000 4 30 0 0 0.009096 0 0 SNHG14 104472715 broad.mit.edu 37 15 25492431 25492431 + RNA SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr15:25492431C>G ENST00000453082.2 + 0 2892 NR_003343.1 CTGCACTGAGCTGTGGTGAGC 0.592000 11 106 0 0 0.008291 0 0 OR4M1 441670 broad.mit.edu 37 14 20248923 20248923 + Missense_Mutation SNP T T A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr14:20248923T>A ENST00000315957.4 + 1 523 c.442T>A c.(442-444)Tcc>Acc p.S148T NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGTGGCTCTCTCCTGGATGGG 0.502000 12 185 0 0 0.013537 0 0 USP44 84101 broad.mit.edu 37 12 95926931 95926931 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:95926931G>C ENST00000258499.3 - 2 1390 c.1102C>G c.(1102-1104)Ctt>Gtt p.L368V USP44_ENST00000537435.2_Missense_Mutation_p.L368V|USP44_ENST00000393091.2_Missense_Mutation_p.L368V|USP44_ENST00000552440.1_Missense_Mutation_p.L368V NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 368 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 GGCTGAATAAGTTCCATCTTT 0.418000 5 79 0 0 0.014758 0 0 CCNB3 85417 broad.mit.edu 37 X 50094673 50094673 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:50094673G>C ENST00000376042.1 + 13 4457 c.4159G>C c.(4159-4161)Gat>Cat p.D1387H CCNB3_ENST00000376038.1_Missense_Mutation_p.D283H|CCNB3_ENST00000348603.2_Missense_Mutation_p.D283H|CCNB3_ENST00000276014.7_Missense_Mutation_p.D1387H Q8WWL7 CCNB3_HUMAN cyclin B3 1387 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TTTGAACTGTGATTGTGAGGC 0.458000 4 22 0 0 0.014758 0 0 TFEB 7942 broad.mit.edu 37 6 41652468 41652468 + Missense_Mutation SNP C C T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:41652468C>T ENST00000230323.4 - 10 1601 c.1300G>A c.(1300-1302)Gac>Aac p.D434N TFEB_ENST00000420312.1_Missense_Mutation_p.D349N|TFEB_ENST00000358871.2_Missense_Mutation_p.D448N|TFEB_ENST00000403298.4_Missense_Mutation_p.D434N|TFEB_ENST00000373033.1_Missense_Mutation_p.D434N NM_001271945.1|NM_007162.2 NP_001258874.1|NP_009093.1 P19484 TFEB_HUMAN transcription factor EB 434 EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) AGCATGAGGTCCAGATCCTTC 0.677000 T ALPHA renal (childhood epithelioid) 5 71 0 0 0.014758 0 0 CFHR4 10877 broad.mit.edu 37 1 196884213 196884213 + Silent SNP T T A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:196884213T>A ENST00000367416.2 + 9 1619 c.1482T>A c.(1480-1482)ggT>ggA p.G494G CFHR4_ENST00000367418.1_Silent_p.G248G|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Silent_p.G248G NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AACTTCAGGGTTCTAATTATG 0.398000 9 165 0 0 0.004482 0 0 ELTD1 64123 broad.mit.edu 37 1 79383605 79383605 + Missense_Mutation SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:79383605T>C ENST00000370742.3 - 11 1655 c.1592A>G c.(1591-1593)aAg>aGg p.K531R NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 531 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATAAAAATTCTTGTGCAAAAA 0.393000 10 102 0 0 0.006214 0 0 ADCY8 114 broad.mit.edu 37 8 131916183 131916183 + Silent SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr8:131916183G>A ENST00000286355.5 - 7 3838 c.1746C>T c.(1744-1746)atC>atT p.I582I ADCY8_ENST00000377928.3_Silent_p.I582I NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 582 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGTAAGTTTCGATATTATGCT 0.478000 HNSCC(32;0.087) 11 122 0 0 0.013537 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411551 32411551 + Missense_Mutation SNP C C T rs58547911 TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:32411551C>T ENST00000395388.2 + 4 738 c.629C>T c.(628-630)cCt>cTt p.P210L HLA-DRA_ENST00000374982.5_Missense_Mutation_p.P185L NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 210 Connecting peptide. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity p.P210H(1) NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 GCTCCAAGCCCTCTCCCAGAG 0.488000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 12 163 0 0 0.020292 0 0 OR2J2 26707 broad.mit.edu 37 6 29141880 29141880 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:29141880C>G ENST00000377167.2 + 1 570 c.468C>G c.(466-468)atC>atG p.I156M NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 GTTTTACTATCTCAGCACTTC 0.458000 15 219 0 0 0.006122 0 0 LMAN2L 81562 broad.mit.edu 37 2 97377656 97377656 + Missense_Mutation SNP C C T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr2:97377656C>T ENST00000264963.4 - 5 636 c.614G>A c.(613-615)cGc>cAc p.R205H LMAN2L_ENST00000426463.2_Missense_Mutation_p.R71H|LMAN2L_ENST00000537039.1_Missense_Mutation_p.R67H|LMAN2L_ENST00000534882.1_Missense_Mutation_p.R60H|LMAN2L_ENST00000377079.4_Missense_Mutation_p.R216H NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 205 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 ATGAAGATTGCGGACAATGGC 0.562000 4 69 0 0 0.014758 0 0 C16orf58 64755 broad.mit.edu 37 16 31504903 31504903 + Missense_Mutation SNP C C T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr16:31504903C>T ENST00000430477.2 - 7 874 c.553G>A c.(553-555)Ggg>Agg p.G185R C16orf58_ENST00000327237.2_Intron|C16orf58_ENST00000570164.1_Intron|C16orf58_ENST00000567994.1_Intron Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 0 Y -> C (in dbSNP:rs17855405). integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 ACACAGGACCCGAGACCAGGG 0.617000 3 41 0 0 0.004672 0 0 TMEM88 92162 broad.mit.edu 37 17 7758463 7758463 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr17:7758463G>C ENST00000301599.6 + 1 81 c.71G>C c.(70-72)tGt>tCt p.C24S TMEM88_ENST00000574668.1_Missense_Mutation_p.C24S NM_203411.1 NP_981956.1 Q6PEY1 TMM88_HUMAN transmembrane protein 88 24 integral to membrane lung(1) 1 all_cancers(10;0.00528)|Prostate(122;0.202) CCCCTGGACTGTTGGGCCTGC 0.672000 5 21 0 0 0.021553 0 0 MB21D2 151963 broad.mit.edu 37 3 192517116 192517116 + Missense_Mutation SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:192517116A>C ENST00000392452.2 - 2 855 c.535T>G c.(535-537)Ttc>Gtc p.F179V NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 179 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GTAGGTGAGAAGAAGTAGTTG 0.463000 4 71 0 0 0.009096 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471766 61471766 + Missense_Mutation SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr18:61471766A>C ENST00000398019.2 + 8 1365 c.1040A>C c.(1039-1041)aAg>aCg p.K347T SERPINB7_ENST00000336429.2_Missense_Mutation_p.K347T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.K347T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.K330T NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 347 Reactive bond (By similarity). regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATTGTAGAAAAGCAACTCCCT 0.453000 7 28 0 0 0.029380 0 0 WDR43 23160 broad.mit.edu 37 2 29152468 29152468 + Silent SNP A A T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr2:29152468A>T ENST00000407426.3 + 11 1385 c.1329A>T c.(1327-1329)ggA>ggT p.G443G NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 443 nucleolus breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) AACGTCTGGGAGCAATGGATA 0.363000 5 27 0 0 0.014758 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64139008 64139008 + Nonsense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:64139008G>A ENST00000295902.6 - 6 1222 c.637C>T c.(637-639)Cga>Tga p.R213* PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R269* NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 213 LIM zinc-binding 2. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TGCCAGTGTCGCCCCTCAGCT 0.498000 15 153 0 0 0.006122 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377313 18377313 + Missense_Mutation SNP A A G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr19:18377313A>G ENST00000392413.3 - 3 1252 c.1037T>C c.(1036-1038)gTc>gCc p.V346A KIAA1683_ENST00000600359.2_Missense_Mutation_p.V300A|KIAA1683_ENST00000600328.2_Missense_Mutation_p.V346A NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 346 Thr-rich. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GGTCACGGAGACCACTGGATA 0.557000 7 81 0 0 0.003080 0 0 PGK2 5232 broad.mit.edu 37 6 49754266 49754266 + Missense_Mutation SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:49754266A>C ENST00000304801.3 - 1 787 c.635T>G c.(634-636)cTt>cGt p.L212R NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 212 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GGCTCCACCAAGTATAGCCAG 0.423000 6 98 0 0 0.021553 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 59 0 0 0.014758 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529328 5529328 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:5529328C>G ENST00000311659.4 - 2 1608 c.1461G>C c.(1459-1461)agG>agC p.R487S HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 487 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCATCTGGCCTCAGAGATC 0.572000 17 78 0 0 0.033300 0 0 TRIM22 10346 broad.mit.edu 37 11 5717766 5717766 + Missense_Mutation SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:5717766A>C ENST00000379965.3 + 2 581 c.304A>C c.(304-306)Aaa>Caa p.K102Q TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 102 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GCACCATGGAAAAAAACTCCA 0.478000 8 58 0 0 0.003080 0 0 MYH15 22989 broad.mit.edu 37 3 108158593 108158593 + Missense_Mutation SNP T T G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:108158593T>G ENST00000273353.3 - 25 3182 c.3126A>C c.(3124-3126)caA>caC p.Q1042H NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1042 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCTCATCAACTTGCTGTTCCA 0.443000 12 111 0 0 0.020292 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632186 156632186 + Missense_Mutation SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr4:156632186T>C ENST00000296518.7 + 6 1078 c.869T>C c.(868-870)tTc>tCc p.F290S GUCY1A3_ENST00000511108.1_Missense_Mutation_p.F290S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.F290S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.F290S|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.F32S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.F290S|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.F290S Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 290 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CCATTCCATTTCATGTTTGAC 0.443000 3 54 0 0 0.004672 0 0 FAM19A4 151647 broad.mit.edu 37 3 68802155 68802155 + Missense_Mutation SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:68802155T>C ENST00000295569.7 - 4 637 c.145A>G c.(145-147)Aag>Gag p.K49E NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 49 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) GTCCCTTGCTTGATTTGGTGG 0.493000 4 44 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179600395 179600395 + Missense_Mutation SNP T T G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr2:179600395T>G ENST00000589042.1 - 50 15002 c.14778A>C c.(14776-14778)caA>caC p.Q4926H TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q3682H|TTN_ENST00000591111.1_Missense_Mutation_p.Q4609H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4609 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGGGAGTTTTTGCCCATCTT 0.418000 3 42 0 0 0.004672 0 0 MASTL 84930 broad.mit.edu 37 10 27454438 27454438 + Missense_Mutation SNP A A G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:27454438A>G ENST00000375946.4 + 6 1384 c.781A>G c.(781-783)Acg>Gcg p.T261A MASTL_ENST00000375940.4_Missense_Mutation_p.T261A|MASTL_ENST00000342386.6_Missense_Mutation_p.T261A NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 261 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAAGGACACTACGCCTTATTC 0.433000 5 57 0 0 0.021553 0 0 CMTM2 146225 broad.mit.edu 37 16 66613633 66613633 + Silent SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr16:66613633G>A ENST00000268595.2 + 1 274 c.123G>A c.(121-123)gcG>gcA p.A41A CMTM2_ENST00000379486.2_Silent_p.A41A NM_144673.2 NP_653274.1 Q8TAZ6 CKLF2_HUMAN CKLF-like MARVEL transmembrane domain containing 2 41 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) CTCAAAAGGCGGTGCAGGACC 0.622000 6 47 0 0 0.029380 0 0 OR51B6 390058 broad.mit.edu 37 11 5373366 5373366 + Missense_Mutation SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:5373366T>C ENST00000380219.1 + 1 629 c.629T>C c.(628-630)cTc>cCc p.L210P AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGGACTTTCTCATCATCTTT 0.438000 9 96 0 0 0.006214 0 0 ZNF22 7570 broad.mit.edu 37 10 45498963 45498963 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:45498963C>G ENST00000298299.3 + 2 740 c.147C>G c.(145-147)agC>agG p.S49R CEP164P1_ENST00000456938.2_RNA NM_006963.4 NP_008894.2 P17026 ZNF22_HUMAN zinc finger protein 22 49 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) TCAGAAGAAGCTTGGATGACA 0.438000 9 67 0 0 0.008291 0 0 CCR8 1237 broad.mit.edu 37 3 39374061 39374061 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:39374061C>G ENST00000326306.4 + 2 377 c.239C>G c.(238-240)tCt>tGt p.S80C CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 80 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) CTGGCCCTGTCTGACCTGCTT 0.493000 36 307 0 0 0.017118 0 0 LUM 4060 broad.mit.edu 37 12 91502123 91502123 + Silent SNP A A G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:91502123A>G ENST00000266718.4 - 2 1088 c.634T>C c.(634-636)Tta>Cta p.L212L LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 212 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TTGTTGTCTAAGTAGAGAGTT 0.413000 5 76 0 0 0.014758 0 0 RAB3IP 117177 broad.mit.edu 37 12 70178515 70178515 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:70178515G>C ENST00000550536.1 + 4 1031 c.574G>C c.(574-576)Gat>Cat p.D192H RAB3IP_ENST00000378815.6_Missense_Mutation_p.D176H|RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000551641.1_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D176H|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.D176H|RAB3IP_ENST00000362025.5_Missense_Mutation_p.D192H NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 192 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) GAAGTTAAAAGATGAAGAATG 0.323000 4 133 0 0 0.009096 0 0 BTNL8 79908 broad.mit.edu 37 5 180377319 180377319 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr5:180377319G>C ENST00000340184.4 + 8 1484 c.1278G>C c.(1276-1278)caG>caC p.Q426H BTNL8_ENST00000505126.1_Missense_Mutation_p.Q219H|BTNL8_ENST00000511704.1_Missense_Mutation_p.Q310H|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.Q301H|BTNL8_ENST00000533815.2_Missense_Mutation_p.Q242H NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 426 B30.2/SPRY. integral to membrane 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) TAAATGACCAGTCCCTTATTT 0.458000 12 80 0 0 0.016723 0 0 OBSCN 84033 broad.mit.edu 37 1 228493070 228493070 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:228493070C>G ENST00000570156.2 + 54 14587 c.14513C>G c.(14512-14514)gCc>gGc p.A4838G OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1515G|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3881 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 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) AAGACGTCGGCCACTCTCACT 0.567000 15 107 0 0 0.020292 0 0 SHARPIN 81858 broad.mit.edu 37 8 145153831 145153831 + Missense_Mutation SNP T T A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr8:145153831T>A ENST00000398712.2 - 8 1550 c.1114A>T c.(1114-1116)Agc>Tgc p.S372C NM_030974.3 NP_112236.3 Q9H0F6 SHRPN_HUMAN SHANK-associated RH domain interactor 372 negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCTGGGTGCTACACATCTCA 0.632000 5 30 0 0 0.021553 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 5 53 0 0 0.014758 0 0 TMEM74 157753 broad.mit.edu 37 8 109796516 109796516 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr8:109796516G>C ENST00000297459.3 - 2 990 c.812C>G c.(811-813)tCt>tGt p.S271C TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 271 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) GAGTTTTGCAGACTCTTTGGA 0.488000 5 43 0 0 0.014758 0 0 DCST2 127579 broad.mit.edu 37 1 155004049 155004049 + Splice_Site SNP C C T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:155004049C>T ENST00000368424.3 - 4 798 c.e4+1 DCST2_ENST00000295536.5_Splice_Site NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGTTTTCTCACGGCTGGCAAG 0.597000 19 55 0 0 0.008871 0 0 OLFM3 118427 broad.mit.edu 37 1 102270070 102270070 + Silent SNP A A G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:102270070A>G ENST00000370103.4 - 6 1314 c.1101T>C c.(1099-1101)acT>acC p.T367T OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Silent_p.T387T|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 387 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TGGGGTAGCCAGTGCTCCAGC 0.478000 11 77 0 0 0.008291 0 0 HBD 3045 broad.mit.edu 37 11 5255363 5255363 + Missense_Mutation SNP T T G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:5255363T>G ENST00000380299.3 - 2 387 c.173A>C c.(172-174)aAc>aCc p.N58T HBD_ENST00000292901.3_Missense_Mutation_p.N58T NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 58 N -> K (in Campania; dbSNP:rs35666685). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACCTTAGGGTTGCCCATAAC 0.527000 15 78 0 0 0.028581 0 0 SSX2IP 117178 broad.mit.edu 37 1 85136353 85136353 + Silent SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:85136353T>C ENST00000437941.2 - 2 460 c.108A>G c.(106-108)gaA>gaG p.E36E SSX2IP_ENST00000342203.3_Silent_p.E63E|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Silent_p.E63E|SSX2IP_ENST00000605755.1_Silent_p.E36E NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 63 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AGATACTCTGTTCAATATTAT 0.299000 8 71 0 0 0.003080 0 0 PDE1C 5137 broad.mit.edu 37 7 31793050 31793050 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:31793050C>G ENST00000396193.1 - 19 2851 c.2258G>C c.(2257-2259)aGg>aCg p.R753T PDE1C_ENST00000321453.7_Missense_Mutation_p.R693T|PDE1C_ENST00000396191.1_Missense_Mutation_p.R693T NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 693 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CATTTTGATCCTCTGATCCAG 0.448000 13 260 0 0 0.013537 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280628 73280628 + Nonsense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr4:73280628G>A ENST00000286657.4 - 4 601 c.565C>T c.(565-567)Cag>Tag p.Q189* NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 189 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCTCCATCTGTTTACCTCTT 0.368000 6 55 0 0 0.029380 0 0 PCDH15 65217 broad.mit.edu 37 10 55587280 55587280 + Nonsense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:55587280G>A ENST00000373965.2 - 33 4655 c.4261C>T c.(4261-4263)Cga>Tga p.R1421* PCDH15_ENST00000395445.1_Nonsense_Mutation_p.R1421*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.R1025*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R1416*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.R1414*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.R1343*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.R1411*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.R1374*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.R1414*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.R1414*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.R1389*|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1414 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GCCTGAATTCGTGCAGTCTTT 0.537000 HNSCC(58;0.16) 6 58 0 0 0.003080 0 0 MYLK3 91807 broad.mit.edu 37 16 46764535 46764535 + Missense_Mutation SNP T T C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr16:46764535T>C ENST00000394809.4 - 5 1653 c.1538A>G c.(1537-1539)tAc>tGc p.Y513C MYLK3_ENST00000536476.1_Missense_Mutation_p.Y172C NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 513 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCACACCTCGTAACCCGCAGA 0.612000 3 72 0 0 0.004672 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806470 6806470 + Missense_Mutation SNP C C G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:6806470C>G ENST00000307401.4 + 1 223 c.202C>G c.(202-204)Ctc>Gtc p.L68V NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCAGCTCTCTCTCATGGACCT 0.552000 4 165 0 0 0.009096 0 0 ETF1 2107 broad.mit.edu 37 5 137846839 137846839 + Missense_Mutation SNP C C T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr5:137846839C>T ENST00000499810.2 - 8 1262 c.814G>A c.(814-816)Gtt>Att p.V272I ETF1_ENST00000503014.1_Missense_Mutation_p.V291I|ETF1_ENST00000360541.5_Missense_Mutation_p.V305I P62495 ERF1_HUMAN eukaryotic translation termination factor 1 305 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTATCTTCAACGCCAAAACAG 0.388000 7 63 0 0 0.029380 0 0 CUL9 23113 broad.mit.edu 37 6 43152353 43152353 + Missense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:43152353G>A ENST00000252050.4 + 2 389 c.305G>A c.(304-306)cGa>cAa p.R102Q CUL9_ENST00000372647.2_Missense_Mutation_p.R102Q|CUL9_ENST00000354495.3_Missense_Mutation_p.R102Q NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 102 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 AGCTTTCCTCGAGATCCAGGA 0.602000 10 115 0 0 0.008291 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156710914 156710914 + Missense_Mutation SNP C C T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr4:156710914C>T ENST00000264424.8 + 5 428 c.346C>T c.(346-348)Cgt>Tgt p.R116C GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R96C|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R116C|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.R48C|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.R48C|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R138C|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.R48C NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 116 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) CCCAGGAATGCGTGCACCTTC 0.463000 8 98 0 0 0.003080 0 0 ARRDC1 92714 broad.mit.edu 37 9 140507428 140507428 + Missense_Mutation SNP T T A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr9:140507428T>A ENST00000371421.4 + 2 263 c.199T>A c.(199-201)Ttc>Atc p.F67I ARRDC1_ENST00000491911.1_3'UTR NM_152285.2 NP_689498.1 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 67 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) GGAGGGTTACTTCAACAGTTC 0.602000 3 23 0 0 0.009096 0 0 HNRNPF 3185 broad.mit.edu 37 10 43883047 43883047 + Missense_Mutation SNP C C T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:43883047C>T ENST00000443950.2 - 3 772 c.286G>A c.(286-288)Gtg>Atg p.V96M HNRNPF_ENST00000337970.3_Missense_Mutation_p.V96M|HNRNPF_ENST00000356053.3_Missense_Mutation_p.V96M|HNRNPF_ENST00000357065.4_Missense_Mutation_p.V96M|HNRNPF_ENST00000544000.1_Missense_Mutation_p.V96M NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 96 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 TGCTTCAACACCCAATCCATC 0.498000 6 58 0 0 0.029380 0 0 PHF21A 51317 broad.mit.edu 37 11 46001496 46001496 + Missense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:46001496G>A ENST00000257821.4 - 6 798 c.175C>T c.(175-177)Cgg>Tgg p.R59W PHF21A_ENST00000323180.6_Missense_Mutation_p.R59W|PHF21A_ENST00000418153.2_Missense_Mutation_p.R59W NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 59 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 AGGTTCTTCCGTAGCTGTTCA 0.383000 4 54 0 0 0.009096 0 0 NUP205 23165 broad.mit.edu 37 7 135263592 135263592 + Missense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:135263592G>A ENST00000285968.6 + 7 997 c.971G>A c.(970-972)gGg>gAg p.G324E NUP205_ENST00000440390.2_Missense_Mutation_p.G118E NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 324 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AAACTGCCTGGGCTCCAAGCC 0.443000 5 73 0 0 0.014758 0 0 ZNF211 10520 broad.mit.edu 37 19 58153368 58153368 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr19:58153368G>C ENST00000544273.1 + 5 1877 c.1550G>C c.(1549-1551)gGa>gCa p.G517A ZNF211_ENST00000391703.3_Missense_Mutation_p.G444A|ZNF211_ENST00000347302.3_Missense_Mutation_p.G505A|ZNF211_ENST00000299871.5_Missense_Mutation_p.G570A|ZNF211_ENST00000254182.7_Missense_Mutation_p.G496A|ZNF211_ENST00000240731.4_Missense_Mutation_p.G518A|ZNF211_ENST00000541801.1_Missense_Mutation_p.G496A|ZNF211_ENST00000420680.1_Missense_Mutation_p.G509A Q13398 ZN211_HUMAN zinc finger protein 211 505 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTCACACTGGAGAAAGGCCT 0.443000 6 44 0 0 0.021553 0 0 RP5-827C21.2 0 broad.mit.edu 37 1 234492755 234492757 + RNA DEL GCC GCC - TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:234492755_234492757delGCC ENST00000425104.1 + 0 4_6 CCCCGGTTCAGCCGCCGCCGCTG 0.660 2 4 --- --- --- --- KRTAP5-1 387264 broad.mit.edu 37 11 1605880 1605882 + In_Frame_Del DEL GCC GCC - TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:1605880_1605882delGCC ENST00000382171.2 - 1 631_633 c.598_600delGGC c.(598-600)del p.G200del KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 200 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCCCCCACAGCCGGAGCCACAA 0.665 11 111 --- --- --- --- LOC101927708 101927708 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 2 4 --- --- --- --- LRRC75A-AS1 125144 broad.mit.edu 37 17 16344166 16344167 + RNA INS - - A rs149284927 TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr17:16344166_16344167insA ENST00000475953.1 + 0 483 C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA NR_027667.1 gactccatctcaaaaaaaaaaa 0.416 3 5 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 3 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 8 10 --- --- --- --- PLP1 5354 broad.mit.edu 37 X 103041638 103041639 + Frame_Shift_Ins INS - - TA TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:103041638_103041639insTA ENST00000418604.1 + 4 716_717 c.436_437insTA c.(436-438)aggfs p.R146fs PLP1_ENST00000361621.2_Intron|PLP1_ENST00000303958.2_Frame_Shift_Ins_p.R146fs NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 146 Missing (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 GGGAAAATGGCTAGGACATCCC 0.564 26 77 --- --- --- ---