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 C3orf14 57415 broad.mit.edu 37 3 62317051 62317051 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr3:62317051C>T ENST00000494481.1 + 5 543 c.229C>T c.(229-231)Cgg>Tgg p.R77W C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W|C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA Q9HBI5 CC014_HUMAN chromosome 3 open reading frame 14 77 p.R77W(1) central_nervous_system(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101) CCCACTTCCACGGCCTGAGGT 0.388000 17 102 0 0 1 0 0 PCDHB8 0 broad.mit.edu 37 5 140558380 140558380 + Missense_Mutation SNP C C G TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:140558380C>G ENST00000239444.2 + 1 1010 c.765C>G c.(763-765)gaC>gaG p.D255E NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 255 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TCTCTGAGGACAGTCCAATAA 0.468000 27 162 0 0 1 0 0 COMMD9 29099 broad.mit.edu 37 11 36296235 36296235 + Missense_Mutation SNP A A T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:36296235A>T ENST00000263401.5 - 6 560 c.544T>A c.(544-546)Tta>Ata p.L182I COMMD9_ENST00000532705.1_Missense_Mutation_p.V170D|COMMD9_ENST00000452374.2_Missense_Mutation_p.L140I NM_014186.3 NP_054905.2 Q9P000 COMD9_HUMAN COMM domain containing 9 182 COMM. kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 5 all_lung(20;0.211) all_hematologic(20;0.107) AGGCCATCTAACATGGTGTCC 0.562000 4 141 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165962517 165962517 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr4:165962517G>A ENST00000512596.1 + 3 1509 c.1293G>A c.(1291-1293)atG>atA p.M431I TRIM60_ENST00000508504.1_Missense_Mutation_p.M431I|TRIM60_ENST00000341062.5_Missense_Mutation_p.M431I NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 431 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TTTATAATATGAATGATAGGT 0.373000 6 89 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4674486 4674486 + Missense_Mutation SNP G G A rs148787592 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:4674486G>A ENST00000396952.5 + 2 1380 c.730G>A c.(730-732)Gtc>Atc p.V244I OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V243I(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCACTTGCGTCTCTCATGT 0.498000 13 75 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589802 156589802 + Nonsense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:156589802G>A ENST00000302938.4 - 2 1569 c.1474C>T c.(1474-1476)Cga>Tga p.R492* NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 492 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGCCATGTCGCTTGCCCCTT 0.512000 16 109 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 4 35 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160098496 160098496 + Missense_Mutation SNP A A G TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:160098496A>G ENST00000361216.3 + 9 1161 c.1072A>G c.(1072-1074)Aac>Gac p.N358D ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 358 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity 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) CCTGGTGAAGAACCTGGAGGC 0.587000 4 131 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30938764 30938764 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr8:30938764G>A ENST00000298139.5 + 9 1470 c.1221G>A c.(1219-1221)caG>caA p.Q407Q NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 407 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTTGGAACAGCAGTCTCAGG 0.338000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 6 78 0 0 1 0 0 CLN5 1203 broad.mit.edu 37 13 77570092 77570092 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr13:77570092C>T ENST00000377453.3 + 3 1834 c.542C>T c.(541-543)aCa>aTa p.T181I CLN5_ENST00000485938.1_3'UTR NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 132 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) AAGAACTACACAATGGAATGG 0.423000 11 172 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr15:79059041T>C ENST00000388820.4 - 19 3422 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 5 49 0 0 1 0 0 TPM1 7168 broad.mit.edu 37 15 63362113 63362113 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr15:63362113G>A ENST00000334895.5 + 8 919 c.709G>A c.(709-711)Gaa>Aaa p.E237K TPM1_ENST00000559397.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000317516.7_Missense_Mutation_p.E237K|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000357980.4_Intron NM_001018008.1 NP_001018008.1 P09493 TPM1_HUMAN tropomyosin 1 (alpha) 273 cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle endometrium(1)|large_intestine(1)|lung(2) 4 CCTCACTAATGAACTAAAGCT 0.458000 6 91 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185947027 185947027 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:185947027G>A ENST00000271588.4 + 16 2709 c.2480G>A c.(2479-2481)cGa>cAa p.R827Q HMCN1_ENST00000367492.2_Missense_Mutation_p.R827Q|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 827 Ig-like C2-type 5. 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 ATCAAATGGCGAAGATTAGAC 0.378000 13 91 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27852702 27852702 + Missense_Mutation SNP C C A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr21:27852702C>A ENST00000299340.4 - 3 566 c.223G>T c.(223-225)Ggg>Tgg p.G75W AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Missense_Mutation_p.G75W|AP001597.1_ENST00000414486.1_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 75 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GCAATGACCCCCATGATAAAT 0.463000 7 147 2.52707e-12 2.8678e-12 1 1 0 ROS1 6098 broad.mit.edu 37 6 117686238 117686238 + Nonsense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr6:117686238G>A ENST00000368508.3 - 20 3301 c.3103C>T c.(3103-3105)Cga>Tga p.R1035* GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.R1030* NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1035 Fibronectin type-III 4. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.R1035*(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) TCAGGTGCTCGAAGTGACAGA 0.378000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 81 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37169185 37169185 + Missense_Mutation SNP T T C TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:37169185T>C ENST00000274258.7 - 34 7168 c.3581A>G c.(3580-3582)cAt>cGt p.H1194R C5orf42_ENST00000508244.1_Missense_Mutation_p.H2314R|C5orf42_ENST00000425232.2_Missense_Mutation_p.H2314R E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2314 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CAAGTTCACATGATTAGGAAT 0.373000 11 92 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31473999 31473999 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr6:31473999C>T ENST00000252229.6 + 3 484 c.405C>T c.(403-405)taC>taT p.Y135Y MICB_ENST00000399150.3_Intron|MICB_ENST00000538442.1_Silent_p.Y103Y NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 135 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 ATTTCTACTACGATGGGGAGC 0.552000 4 46 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57934557 57934557 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chrX:57934557C>T ENST00000358697.4 - 1 2510 c.2298G>A c.(2296-2298)caG>caA p.Q766Q NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 766 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 TTTCTCCCTCCTGTCCAAAGA 0.468000 4 121 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40934551 40934551 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:40934551G>A ENST00000313164.9 + 4 622 c.263G>A c.(262-264)cGt>cAt p.R88H NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 88 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TGTGGAGAGCGTTTCAGGTGC 0.423000 27 170 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147491350 147491350 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:147491350G>A ENST00000359874.3 + 19 1785 c.1712G>A c.(1711-1713)cGt>cAt p.R571H SPINK5_ENST00000398454.1_Missense_Mutation_p.R571H|SPINK5_ENST00000256084.7_Missense_Mutation_p.R571H NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 571 Kazal-like 9. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGAATATCGTCATTATGTG 0.433000 17 79 0 0 1 0 0 DUS2L 0 broad.mit.edu 37 16 68100526 68100526 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr16:68100526G>A ENST00000565263.1 + 10 1035 c.541G>A c.(541-543)Gca>Aca p.A181T DUS2L_ENST00000358896.6_Missense_Mutation_p.A181T|DUS2L_ENST00000432752.1_Missense_Mutation_p.A146T NM_017803.3 NP_060273.1 Q9NX74 DUS2L_HUMAN 181 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) TGCTGCCATCGCAGTTCATGG 0.517000 5 227 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976395 38976395 + Silent SNP G G T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr19:38976395G>T ENST00000355481.4 + 34 5231 c.5100G>T c.(5098-5100)gcG>gcT p.A1700A RYR1_ENST00000360985.3_Silent_p.A1700A|RYR1_ENST00000359596.3_Silent_p.A1700A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1700 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGGAGGACGCGCACCTGCCAG 0.652000 5 126 0.0293803 0.0299739 1 1 0 GRIN2B 2904 broad.mit.edu 37 12 13906702 13906702 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr12:13906702G>A ENST00000279593.3 - 3 768 c.559C>T c.(559-561)Cgc>Tgc p.R187C NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 187 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R187C(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGGTGCTGCGGATCTTGTTT 0.473000 8 124 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120282 38120282 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr22:38120282C>T ENST00000406386.3 + 7 1974 c.1719C>T c.(1717-1719)gaC>gaT p.D573D RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 573 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCACACGAGACAACCCCAGAA 0.587000 5 249 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533746 55533746 + Missense_Mutation SNP G G T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr8:55533746G>T ENST00000220676.1 + 2 368 c.220G>T c.(220-222)Gtg>Ttg p.V74L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 74 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTCCAGGAAGGTGCCCCTCCC 0.597000 11 169 9.05144e-12 1.01577e-11 1 1 0 MAGI2 9863 broad.mit.edu 37 7 77885614 77885614 + Missense_Mutation SNP G G T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr7:77885614G>T ENST00000354212.4 - 10 1946 c.1693C>A c.(1693-1695)Ccg>Acg p.P565T MAGI2_ENST00000536571.1_Missense_Mutation_p.P397T|MAGI2_ENST00000522391.1_Missense_Mutation_p.P565T|MAGI2_ENST00000535697.1_Missense_Mutation_p.P402T|MAGI2_ENST00000419488.1_Missense_Mutation_p.P565T NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 565 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GAATGAGGCGGCCGATCTGTT 0.507000 7 98 1.06961e-07 1.16162e-07 1 1 0 GRIN2B 2904 broad.mit.edu 37 12 13716623 13716623 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr12:13716623C>T ENST00000279593.3 - 13 3758 c.3549G>A c.(3547-3549)acG>acA p.T1183T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1183 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTTTGTCGCCCGTCCCGTGCT 0.617000 7 150 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13206053 13206053 + Nonsense_Mutation SNP C C A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr9:13206053C>A ENST00000319217.7 - 11 1583 c.1336G>T c.(1336-1338)Gag>Tag p.E446* MPDZ_ENST00000536827.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.E446*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.E446* NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 446 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CGCAATACCTCTACTGCTTGC 0.393000 3 31 1 1 1 1 0 ATP6AP1L 92270 broad.mit.edu 37 5 81613927 81613927 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:81613927G>A ENST00000380167.4 + 10 1808 c.483G>A c.(481-483)ctG>ctA p.L161L ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.L161L Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 161 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 TCCTGCTGCTGGTGTTGGCCT 0.557000 5 70 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28981588 28981588 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr8:28981588C>T ENST00000524189.1 - 27 3343 c.3305G>A c.(3304-3306)cGt>cAt p.R1102H CTD-2647L4.1_ENST00000523661.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1102 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GTACTCCTGACGTTTTGTTAA 0.343000 5 39 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 4 98 0.00909568 0.00937412 1 1 0 PTPN1 5770 broad.mit.edu 37 20 49195082 49195082 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr20:49195082G>A ENST00000371621.3 + 6 792 c.618G>A c.(616-618)ccG>ccA p.P206P PTPN1_ENST00000541713.1_Silent_p.P133P NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 206 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) CACTCAGCCCGGAGCACGGGC 0.557000 4 118 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76073206 76073206 + RNA SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr15:76073206G>A ENST00000395215.3 + 0 495 CCGACACTTCGAAGGTGGGAA 0.502000 5 101 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101709135 101709135 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:101709135C>T ENST00000506729.1 - 13 2252 c.2081G>A c.(2080-2082)cGt>cAt p.R694H SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R632H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R694H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R441H Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 694 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CTCATTTAGACGACGTTTGTA 0.323000 12 120 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7520913 7520913 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:7520913C>T ENST00000338316.4 + 3 560 c.471C>T c.(469-471)gaC>gaT p.D157D NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 157 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.D157D(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ACATGCGAGACGCCATCATTG 0.547000 6 87 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64367294 64367294 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:64367294G>A ENST00000377574.1 + 7 1964 c.1217G>A c.(1216-1218)cGc>cAc p.R406H SLC22A12_ENST00000473690.1_Missense_Mutation_p.R185H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R298H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R298H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R372H NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 406 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CTGGGCCGCCGCCCCACGCTG 0.642000 4 90 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75017918 75017918 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr14:75017918G>A ENST00000261978.4 - 7 1921 c.1535C>T c.(1534-1536)cCg>cTg p.P512L LTBP2_ENST00000556690.1_Missense_Mutation_p.P512L|LTBP2_ENST00000557425.1_5'UTR NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 512 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CAGCCAGGGCGGGGGTCTGGT 0.706000 5 40 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 147 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27382881 27382881 + Missense_Mutation SNP C C T rs76549048 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr8:27382881C>T ENST00000521400.1 + 12 1491 c.1061C>T c.(1060-1062)gCg>gTg p.A354V EPHX2_ENST00000518379.1_Missense_Mutation_p.A322V|EPHX2_ENST00000517536.1_Missense_Mutation_p.A171V|EPHX2_ENST00000380476.3_Missense_Mutation_p.A301V|EPHX2_ENST00000521780.1_Missense_Mutation_p.A288V NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 354 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity p.A354V(1) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) TTCTGTAGGGCGGTGGCCAGT 0.463000 9 128 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137803725 137803725 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:137803725G>A ENST00000239938.4 + 2 1859 c.1587G>A c.(1585-1587)tcG>tcA p.S529S NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 529 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAGGGCTTTCGGACATGACAG 0.512000 17 128 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61765935 61765935 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr17:61765935C>T ENST00000361357.3 + 10 1170 c.852C>T c.(850-852)gaC>gaT p.D284D MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000579585.1_Silent_p.D284D|MAP3K3_ENST00000361733.3_Silent_p.D253D|MAP3K3_ENST00000584573.1_Silent_p.D280D|MAP3K3_ENST00000577395.1_Silent_p.D249D NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 253 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 GCTTCCCTGACAACAGACAGG 0.537000 10 70 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63957831 63957831 + Missense_Mutation SNP T T C TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr10:63957831T>C ENST00000373789.3 - 12 1762 c.1666A>G c.(1666-1668)Atg>Gtg p.M556V RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 556 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GGAGCAGCCATTGGTTTCTGT 0.428000 15 75 0 0 1 0 0 C15orf54 400360 broad.mit.edu 37 15 39544388 39544388 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr15:39544388G>A ENST00000318578.3 + 2 420 c.52G>A c.(52-54)Gct>Act p.A18T C15orf54_ENST00000561223.1_Missense_Mutation_p.A18T|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 18 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) ACCCCAGAGGGCTGAGCCGCA 0.468000 18 306 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107732214 107732214 + Missense_Mutation SNP G G A rs143703672 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr7:107732214G>A ENST00000388781.3 - 14 1641 c.1558C>T c.(1558-1560)Ccc>Tcc p.P520S LAMB4_ENST00000388780.3_Missense_Mutation_p.P520S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P520S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P520S NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 520 Laminin EGF-like 5; truncated. cell adhesion basement membrane 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 CCATTCTTGGGTGAGCACCTG 0.493000 8 110 0 0 1 0 0 FAM169B 283777 broad.mit.edu 37 15 99023868 99023868 + Missense_Mutation SNP G G A rs141122936 by1000genomes TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr15:99023868G>A ENST00000558256.1 - 4 394 c.145C>T c.(145-147)Cgt>Tgt p.R49C FAM169B_ENST00000332908.4_Missense_Mutation_p.R49C NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B 49 large_intestine(3)|lung(3)|urinary_tract(1) 7 GCCGCTCCACGTCTCCACAGG 0.473000 9 131 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959421 10959421 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr12:10959421G>A ENST00000240615.2 - 1 471 c.159C>T c.(157-159)atC>atT p.I53I NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 53 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 AAATTCTGGCGATAACTAAAT 0.328000 19 137 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43826262 43826262 + Silent SNP C C A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:43826262C>A ENST00000372462.1 + 6 1049 c.846C>A c.(844-846)tcC>tcA p.S282S CDC20_ENST00000310955.6_Silent_p.S282S|CDC20_ENST00000478882.1_3'UTR Q12834 CDC20_HUMAN cell division cycle 20 282 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATATCCTGTCCAGGTCAGTGG 0.512000 6 108 2.7689e-08 3.03977e-08 1 1 0 IL16 3603 broad.mit.edu 37 15 81592440 81592440 + Missense_Mutation SNP C C G TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr15:81592440C>G ENST00000394660.2 + 14 3133 c.2773C>G c.(2773-2775)Cca>Gca p.P925A IL16_ENST00000394652.2_Missense_Mutation_p.P224A|IL16_ENST00000302987.4_Missense_Mutation_p.P925A NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 925 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GTCCCCTCCCCCAGGGCGGCA 0.642000 11 70 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30651808 30651808 + Missense_Mutation SNP T T G TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr7:30651808T>G ENST00000389266.3 + 8 1219 c.978T>G c.(976-978)atT>atG p.I326M NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 326 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) CTGCCCAGATTGGAAATTCTT 0.423000 9 84 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46060562 46060562 + Silent SNP A A G TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr4:46060562A>G ENST00000295452.4 - 6 870 c.703T>C c.(703-705)Tta>Cta p.L235L NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 235 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AACTGATATAATCTCCAGTAT 0.348000 10 69 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324212 62324212 + Missense_Mutation SNP G G A rs143317975 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr20:62324212G>A ENST00000318100.4 + 29 3534 c.2707G>A c.(2707-2709)Gtg>Atg p.V903M RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 903 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CATGGTGGCCGTGAAGCAGGA 0.642000 4 131 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131761728 131761728 + Missense_Mutation SNP G G T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr10:131761728G>T ENST00000368648.3 - 2 266 c.194C>A c.(193-195)tCc>tAc p.S65Y EBF3_ENST00000355311.5_Missense_Mutation_p.S65Y NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 65 Interaction with DNA (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GAAGAAATTGGATTTCCGGAG 0.612000 8 59 0.000673444 0.000708519 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102300094 102300094 + RNA SNP G G T rs28459357 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr15:102300094G>T ENST00000561463.1 + 0 8140 GACACTCATGGAGGAGTCGGC 0.582000 3 13 0.00024832 0.000266812 1 1 0 KLHL8 57563 broad.mit.edu 37 4 88091688 88091688 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr4:88091688C>T ENST00000273963.5 - 7 1629 c.1288G>A c.(1288-1290)Gtg>Atg p.V430M KLHL8_ENST00000545252.1_Missense_Mutation_p.V79M|KLHL8_ENST00000498875.2_Missense_Mutation_p.V354M|KLHL8_ENST00000512111.1_Missense_Mutation_p.V430M|KLHL8_ENST00000425278.2_Missense_Mutation_p.V247M NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 430 breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TATCTCTCCACATCATTGAAG 0.428000 10 128 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409693 59409693 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr8:59409693G>A ENST00000301645.3 - 3 515 c.378C>T c.(376-378)aaC>aaT p.N126N NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 126 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TGAAAGTGTCGTTTATGTTTT 0.443000 Neonatal Giant Cell Hepatitis 6 87 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10077032 10077032 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr4:10077032G>A ENST00000382452.2 - 15 2073 c.1791C>T c.(1789-1791)gcC>gcT p.A597A WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Silent_p.A457A|WDR1_ENST00000499869.2_Silent_p.A597A|WDR1_ENST00000382451.2_Silent_p.A457A NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 597 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCTTGACAGAGGCATCATGGG 0.567000 7 53 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201020210 201020210 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:201020210C>T ENST00000362061.3 - 33 4241 c.4015G>A c.(4015-4017)Gac>Aac p.D1339N CACNA1S_ENST00000367338.3_Missense_Mutation_p.D1320N NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1339 Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GACTCTGGGTCACACAGCTTC 0.547000 6 118 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908744 140908744 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:140908744C>T ENST00000253811.6 - 21 2916 c.2776G>A c.(2776-2778)Gtg>Atg p.V926M DIAPH1_ENST00000389054.3_Missense_Mutation_p.V922M|DIAPH1_ENST00000389057.5_Missense_Mutation_p.V916M|DIAPH1_ENST00000518047.1_Missense_Mutation_p.V913M|DIAPH1_ENST00000398557.4_Missense_Mutation_p.V925M|DIAPH1_ENST00000398562.2_Missense_Mutation_p.V901M|DIAPH1_ENST00000398566.3_Missense_Mutation_p.V917M|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000520569.1_Missense_Mutation_p.V868M O60610 DIAP1_HUMAN diaphanous-related formin 1 925 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACCACCACGCCAAACTGC 0.512000 16 135 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36045932 36045932 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr19:36045932C>T ENST00000262623.3 - 16 2401 c.2373G>A c.(2371-2373)ttG>ttA p.L791L NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 791 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding 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) TGTTCTTGGTCAATGTGTAGG 0.572000 6 104 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587486 55587486 + Silent SNP T T A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:55587486T>A ENST00000333976.4 + 1 401 c.381T>A c.(379-381)atT>atA p.I127I NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCGTGGCCATTTGCAACCCTC 0.463000 23 160 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567000 4567000 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:4567000G>A ENST00000360213.1 + 1 580 c.580G>A c.(580-582)Gac>Aac p.D194N NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GACATGTGGCGACAGCAGGGT 0.512000 31 181 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57873149 57873149 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr4:57873149C>T ENST00000381227.1 + 11 1798 c.1385C>T c.(1384-1386)gCc>gTc p.A462V POLR2B_ENST00000441246.2_Missense_Mutation_p.A455V|POLR2B_ENST00000314595.5_Missense_Mutation_p.A462V|POLR2B_ENST00000431623.2_Missense_Mutation_p.A387V P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 462 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) GCTCATCAAGCCAGAGCTGGA 0.378000 10 58 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106376 90106376 + Missense_Mutation SNP G G T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:90106376G>T ENST00000405460.2 + 74 15395 c.15299G>T c.(15298-15300)aGg>aTg p.R5100M GPR98_ENST00000425867.2_Missense_Mutation_p.R761M NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5100 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTAGAAATTAGGGGATTACAA 0.333000 10 122 0.000978159 0.0010185 1 1 0 TMEM151A 256472 broad.mit.edu 37 11 66063102 66063102 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:66063102G>A ENST00000327259.4 + 2 1529 c.1385G>A c.(1384-1386)gGg>gAg p.G462E NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 462 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 GGCTGCCAGGGGGATGGGCAG 0.657000 4 27 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 8 636 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15271630 15271630 + Missense_Mutation SNP G G A rs148716935 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr19:15271630G>A ENST00000263388.2 - 33 6884 c.6809C>T c.(6808-6810)aCg>aTg p.T2270M NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 2270 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TGGGCTAGGCGTGGATTCGGA 0.667000 6 109 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237729947 237729947 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:237729947G>A ENST00000366574.2 + 28 3612 c.3295G>A c.(3295-3297)Gga>Aga p.G1099R RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R|RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1099 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGTGAAGGCCGGACGGTGGTA 0.552000 5 154 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97329663 97329663 + Missense_Mutation SNP T T C TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr3:97329663T>C ENST00000389672.5 + 13 2577 c.2539T>C c.(2539-2541)Tat>Cat p.Y847H EPHA6_ENST00000502694.1_Missense_Mutation_p.Y239H|EPHA6_ENST00000442602.2_Missense_Mutation_p.Y213H|EPHA6_ENST00000514100.1_Missense_Mutation_p.Y239H NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 752 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGTGGTGGAATATATGGAGAA 0.373000 6 112 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18152414 18152414 + Silent SNP C C T rs114899155 byFrequency TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:18152414C>T ENST00000375406.1 + 3 717 c.501C>T c.(499-501)ccC>ccT p.P167P NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 167 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCCCCTTGCCCGCCAGCGGCA 0.607000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 40 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72613303 72613303 + Silent SNP T T C TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr17:72613303T>C ENST00000392619.1 - 2 458 c.423A>G c.(421-423)tcA>tcG p.S141S CD300E_ENST00000328630.3_Silent_p.S114S|CD300E_ENST00000426295.2_Silent_p.S155S NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 114 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 CGCGTGACCATGAATCCAGGA 0.547000 6 163 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179414390 179414390 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr2:179414390C>T ENST00000589042.1 - 338 92283 c.92059G>A c.(92059-92061)Ggc>Agc p.G30687S TTN_ENST00000359218.5_Missense_Mutation_p.G21747S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29046S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21622S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28119S|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21814S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29046 Ig-like 138. 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) TATTCATTGCCGTTTATTAGT 0.408000 5 84 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 346452 346452 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr12:346452G>A ENST00000343164.4 - 6 620 c.568C>T c.(568-570)Cgg>Tgg p.R190W SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 190 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TTCAAGACCCGCCGCCTGGGG 0.617000 4 86 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268144 21268144 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:21268144G>A ENST00000602326.1 - 12 1936 c.1353C>T c.(1351-1353)gcC>gcT p.A451A EIF4G3_ENST00000374937.3_Silent_p.A451A|EIF4G3_ENST00000400422.1_Silent_p.A445A|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Silent_p.A456A|EIF4G3_ENST00000536266.1_Silent_p.A49A|EIF4G3_ENST00000264211.8_Silent_p.A445A|EIF4G3_ENST00000374927.4_Silent_p.A445A NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 445 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GGACTGTGATGGCAGCACTCG 0.488000 11 201 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281299 281299 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:281299C>T ENST00000534750.1 + 4 1770 c.1565C>T c.(1564-1566)gCg>gTg p.A522V NLRP6_ENST00000312165.5_Missense_Mutation_p.A522V NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 522 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CCCAGGACCGCGGCTGGCGGC 0.677000 5 21 0 0 1 0 0 PCDHGC4 0 broad.mit.edu 37 5 140865844 140865844 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr5:140865844G>A ENST00000306593.1 + 1 1104 c.1104G>A c.(1102-1104)gtG>gtA p.V368V PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCACTGTGGTGGCACTTA 0.547000 9 77 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187698677 187698677 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr2:187698677C>T ENST00000295131.2 - 6 863 c.824G>A c.(823-825)cGt>cAt p.R275H NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 275 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CTGTACCTCACGAAATGTAAA 0.363000 13 60 0 0 1 0 0 C12orf63 0 broad.mit.edu 37 12 97082742 97082742 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr12:97082742G>A ENST00000524981.3 + 10 1416 c.1416G>A c.(1414-1416)ttG>ttA p.L472L Q6ZTY8 CL063_HUMAN 446 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 GTTGCATTTTGTCTGCGTTAC 0.274000 18 113 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51993277 51993277 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr3:51993277G>A ENST00000461554.1 - 11 999 c.668C>T c.(667-669)gCg>gTg p.A223V PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V|PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V|PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V NM_001174100.1 NP_001167571.1 P57723 PCBP4_HUMAN poly(rC) binding protein 4 223 cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAAGGGGACCGCATGGCTTGA 0.637000 3 50 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77255306 77255306 + Silent SNP A A T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr4:77255306A>T ENST00000388914.3 - 18 2831 c.2679T>A c.(2677-2679)gcT>gcA p.A893A NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 893 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TCAGTGTGTTAGCTTTTGTAG 0.393000 5 69 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276861 71276861 + Silent SNP T T C rs36179995 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:71276861T>C ENST00000398531.1 + 1 253 c.228T>C c.(226-228)tcT>tcC p.S76S KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 76 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 ACTGTGGCTCTTGTGGGGGCT 0.677000 6 351 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731352 21731352 + Silent SNP C C A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr17:21731352C>A ENST00000584755.1 + 2 1051 c.654C>A c.(652-654)ccC>ccA p.P218P UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGAGTCGACCCTGCACCTGGT 0.552000 15 84 5.26018e-13 6.03725e-13 1 1 0 ROM1 6094 broad.mit.edu 37 11 62381890 62381890 + Nonsense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:62381890C>T ENST00000278833.3 + 2 1292 c.751C>T c.(751-753)Caa>Taa p.Q251* ROM1_ENST00000534093.1_Silent_p.P41P NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 251 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 CCTCTGGGCCCAAGGGTGCCA 0.602000 19 94 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 85 0.000602214 0.000640249 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57766794 57766794 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr20:57766794C>T ENST00000371030.2 + 1 720 c.720C>T c.(718-720)ggC>ggT p.G240G NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 240 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGCACGAAGGCGCCTCGGAGA 0.687000 10 41 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 633562 633562 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr16:633562C>T ENST00000026218.5 + 10 2299 c.2211C>T c.(2209-2211)agC>agT p.S737S PIGQ_ENST00000321878.5_3'UTR NM_148920.2 NP_683721.1 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 737 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CCGTCCCCAGCGGGCCCGGGC 0.627000 4 125 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029298 219029298 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr2:219029298C>T ENST00000295683.2 - 2 757 c.637G>A c.(637-639)Gtg>Atg p.V213M NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 213 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity p.V213M(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 AACAGCGGCACGATGAAGCCA 0.522000 10 114 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38933849 38933849 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr17:38933849C>T ENST00000301656.3 - 6 1148 c.1108G>A c.(1108-1110)Gag>Aag p.E370K KRT27_ENST00000540723.1_5'UTR NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 370 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) TGCTCATACTCGAGCTTCTGG 0.547000 31 220 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31083952 31083952 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr6:31083952G>A ENST00000376288.2 - 2 1466 c.1440C>T c.(1438-1440)tcC>tcT p.S480S PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 480 cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 TGGCACCAGCGGAGGGATCAG 0.622000 9 52 0 0 1 0 0 PLEKHA1 59338 broad.mit.edu 37 10 124157455 124157455 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr10:124157455C>T ENST00000368988.1 + 3 286 c.163C>T c.(163-165)Cgt>Tgt p.R55C PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55C|PLEKHA1_ENST00000494222.1_3'UTR Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 55 PH 1. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGATCATCACGTGTTGGAGC 0.299000 16 66 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159842876 159842876 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:159842876G>A ENST00000426543.2 - 11 1635 c.1180C>T c.(1180-1182)Cgg>Tgg p.R394W CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R479W Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 479 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) ACCTGGCGCCGGAGCTCATTG 0.612000 18 68 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151265427 151265428 + Frame_Shift_Ins INS - - T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr1:151265427_151265428insT ENST00000368875.2 - 13 2967_2968 c.2387_2388insA c.(2386-2388)cctfs p.P796fs PI4KB_ENST00000271657.5_Frame_Shift_Ins_p.P796fs|PI4KB_ENST00000529142.1_Frame_Shift_Ins_p.P452fs|PI4KB_ENST00000368872.1_Frame_Shift_Ins_p.P769fs|PI4KB_ENST00000368873.1_Frame_Shift_Ins_p.P784fs|PI4KB_ENST00000368874.4_Frame_Shift_Ins_p.P769fs NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 784 S -> G (in Ref. 4; BAG57793). phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCAGCTGCAGCTGCTCCTCAGT 0.550 19 76 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910768 2910769 + RNA INS - - T rs142585959 by1000genomes TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr2:2910768_2910769insT ENST00000457478.1 - 0 594 tccaccccctctcccCAGCCCA 0.698 3 4 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 7 187 --- --- --- --- PDE12 201626 broad.mit.edu 37 3 57542756 57542757 + Frame_Shift_Ins INS - - T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr3:57542756_57542757insT ENST00000311180.8 + 1 753_754 c.650_651insT c.(649-651)tccfs p.S217fs PDE12_ENST00000487257.1_Frame_Shift_Ins_p.S217fs NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 217 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TCGTCATTGTCTCCCTCCTCAC 0.594 43 275 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 8 170 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190876218 190876219 + Frame_Shift_Ins INS - - AT TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr4:190876218_190876219insAT ENST00000226798.4 + 5 566_567 c.344_345insAT c.(343-345)atafs p.I115fs FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 115 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GGCTATGGAAAATATCTTGGTA 0.361 7 142 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407164 89407165 + RNA INS - - T rs72449667 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr11:89407164_89407165insT ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CCATCAATGACTTTTTTTTTTT 0.302 2 4 --- --- --- --- ABCC6P1 0 broad.mit.edu 37 16 18593649 18593649 + RNA DEL A A - TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr16:18593649delA ENST00000546162.2 + 0 805 NR_003569.1 ccctgtctcgaaaaaaaaaaa 0.507 4 7 --- --- --- --- RP11-345M22.1 0 broad.mit.edu 37 16 79756932 79756934 + RNA DEL TGG TGG - rs67854673 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr16:79756932_79756934delTGG ENST00000561510.1 + 0 361 atgatggtgatggtggtggtggt 0.567 3 3 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 5 4 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43259793 43259794 + Frame_Shift_Del DEL TC TC - TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf459ac-bd93-4bca-a642-fd64e9eb6783 d0e20b08-cf3b-41e9-a116-5f157de4a40b g.chr21:43259793_43259794delTC ENST00000422911.1 - 7 1021_1022 c.920_921delGA c.(919-921)afs p.R307fs PRDM15_ENST00000538201.1_Frame_Shift_Del_p.R270fs|PRDM15_ENST00000269844.3_Frame_Shift_Del_p.R636fs|PRDM15_ENST00000398548.1_Frame_Shift_Del_p.R307fs|PRDM15_ENST00000447207.2_Frame_Shift_Del_p.R270fs P57071 PRD15_HUMAN PR domain containing 15 636 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CTTTGGGTTTTCTCCCCCTTCG 0.599 17 394 --- --- --- ---